Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 13 52158916 52158916 + Silent SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr13:52158916G>C c.93G>C c.(91-93)gtG>gtC p.V31V BRCA 13 52158851 52158851 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr13:52158851C>G c.28C>G c.(28-30)Ctg>Gtg p.L10V BRCA 13 52325491 52325491 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr13:52325491G>A c.771G>A c.(769-771)ttG>ttA p.L257L BRCA 13 52329500 52329500 + Missense_Mutation SNP G G A TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr13:52329500G>A c.838G>A c.(838-840)Gaa>Aaa p.E280K CESC 13 52158943 52158943 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr13:52158943C>T c.120C>T c.(118-120)atC>atT p.I40I CESC 13 52293346 52293346 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr13:52293346G>C c.347G>C c.(346-348)aGa>aCa p.R116T COAD 13 52332341 52332341 + Missense_Mutation SNP G G T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:52332341G>T c.1078G>T c.(1078-1080)Gcc>Tcc p.A360S COAD 13 52332385 52332385 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:52332385C>T c.1122C>T c.(1120-1122)ttC>ttT p.F374F COAD 13 52332419 52332419 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:52332419A>G c.1156A>G c.(1156-1158)Act>Gct p.T386A COADREAD 13 52313196 52313196 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr13:52313196G>A c.610G>A c.(610-612)Gct>Act p.A204T COADREAD 13 52332341 52332341 + Missense_Mutation SNP G G T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:52332341G>T c.1078G>T c.(1078-1080)Gcc>Tcc p.A360S COADREAD 13 52332385 52332385 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:52332385C>T c.1122C>T c.(1120-1122)ttC>ttT p.F374F COADREAD 13 52332419 52332419 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:52332419A>G c.1156A>G c.(1156-1158)Act>Gct p.T386A DLBC 13 52313253 52313253 + Missense_Mutation SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr13:52313253G>A c.667G>A c.(667-669)Gtc>Atc p.V223I ESCA 13 52158844 52158845 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr13:52158844_52158845insA c.21_22insA c.(22-24)aagfs p.K8fs ESCA 13 52333896 52333896 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr13:52333896C>T c.1194C>T c.(1192-1194)gtC>gtT p.V398V GBM 13 52234797 52234797 + Missense_Mutation SNP C C G TCGA-06-2569-01A-01D-1494-08 TCGA-06-2569-10A-01D-1494-08 g.chr13:52234797C>G c.203C>G c.(202-204)cCt>cGt p.P68R GBMLGG 13 52234797 52234797 + Missense_Mutation SNP C C G TCGA-06-2569-01A-01D-1494-08 TCGA-06-2569-10A-01D-1494-08 g.chr13:52234797C>G c.203C>G c.(202-204)cCt>cGt p.P68R GBMLGG 13 52293442 52293442 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:52293442G>A c.443G>A c.(442-444)cGc>cAc p.R148H HNSC 13 52313218 52313218 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr13:52313218A>T c.632A>T c.(631-633)cAg>cTg p.Q211L KIPAN 13 52293353 52293353 + Silent SNP G G C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr13:52293353G>C c.354G>C c.(352-354)acG>acC p.T118T KIRC 13 52293353 52293353 + Silent SNP G G C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr13:52293353G>C c.354G>C c.(352-354)acG>acC p.T118T LGG 13 52293442 52293442 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:52293442G>A c.443G>A c.(442-444)cGc>cAc p.R148H LIHC 13 52301856 52301856 + Silent SNP A A G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr13:52301856A>G c.528A>G c.(526-528)tcA>tcG p.S176S LIHC 13 52301872 52301872 + Missense_Mutation SNP C C A TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr13:52301872C>A c.544C>A c.(544-546)Ctc>Atc p.L182I LUAD 13 52158888 52158888 + Missense_Mutation SNP G G T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr13:52158888G>T c.65G>T c.(64-66)gGg>gTg p.G22V LUAD 13 52234781 52234781 + Missense_Mutation SNP G G C TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr13:52234781G>C c.187G>C c.(187-189)Gta>Cta p.V63L LUAD 13 52293419 52293419 + Missense_Mutation SNP G G T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr13:52293419G>T c.420G>T c.(418-420)tgG>tgT p.W140C LUAD 13 52293449 52293449 + Silent SNP A A T TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr13:52293449A>T c.450A>T c.(448-450)ggA>ggT p.G150G LUAD 13 52325503 52325503 + Silent SNP C C T TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr13:52325503C>T c.783C>T c.(781-783)ggC>ggT p.G261G LUAD 13 52330482 52330482 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr13:52330482G>T c.948G>T c.(946-948)aaG>aaT p.K316N LUSC 13 52325496 52325496 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr13:52325496C>T c.776C>T c.(775-777)tCc>tTc p.S259F OV 13 52330520 52330520 + Missense_Mutation SNP G G A TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr13:52330520G>A c.986G>A c.(985-987)cGc>cAc p.R329H PAAD 13 52234790 52234790 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:52234790G>A c.196G>A c.(196-198)Gca>Aca p.A66T READ 13 52313196 52313196 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr13:52313196G>A c.610G>A c.(610-612)Gct>Act p.A204T SARC 13 52277758 52277758 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 g.chr13:52277758C>T c.306C>T c.(304-306)aaC>aaT p.N102N SARC 13 52332390 52332390 + Missense_Mutation SNP C C G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 g.chr13:52332390C>G c.1127C>G c.(1126-1128)gCa>gGa p.A376G SKCM 13 52313270 52313270 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr13:52313270C>T c.684C>T c.(682-684)atC>atT p.I228I SKCM 13 52313275 52313275 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:52313275G>A c.689G>A c.(688-690)gGg>gAg p.G230E SKCM 13 52329528 52329528 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr13:52329528A>C c.866A>C c.(865-867)aAg>aCg p.K289T SKCM 13 52332429 52332429 + Missense_Mutation SNP T T G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr13:52332429T>G c.1166T>G c.(1165-1167)gTt>gGt p.V389G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 13 52167520 52167520 single base substitution T C intron_variant BOCA-FR 13 52256326 52256326 single base substitution C T intron_variant BRCA-EU 13 52154383 52154383 single base substitution G T upstream_gene_variant BRCA-EU 13 52156164 52156164 single base substitution C G upstream_gene_variant BRCA-EU 13 52156609 52156609 single base substitution G A upstream_gene_variant BRCA-EU 13 52158568 52158568 single base substitution C T upstream_gene_variant BRCA-EU 13 52158715 52158715 single base substitution C A 5_prime_UTR_variant BRCA-EU 13 52158715 52158715 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 52159491 52159491 single base substitution C G intron_variant BRCA-EU 13 52159556 52159556 single base substitution G A intron_variant BRCA-EU 13 52160542 52160542 single base substitution A C intron_variant BRCA-EU 13 52160962 52160962 single base substitution G C intron_variant BRCA-EU 13 52161115 52161115 single base substitution A G intron_variant BRCA-EU 13 52161421 52161421 single base substitution A G intron_variant BRCA-EU 13 52163482 52163482 deletion of <=200bp T - intron_variant BRCA-EU 13 52165146 52165146 single base substitution A G intron_variant BRCA-EU 13 52168044 52168044 single base substitution A T intron_variant BRCA-EU 13 52168306 52168306 single base substitution C G intron_variant BRCA-EU 13 52168864 52168864 single base substitution C A intron_variant BRCA-EU 13 52170058 52170058 single base substitution C G intron_variant BRCA-EU 13 52170482 52170482 single base substitution G A intron_variant BRCA-EU 13 52170814 52170814 single base substitution A G intron_variant BRCA-EU 13 52171693 52171693 single base substitution T G intron_variant BRCA-EU 13 52175417 52175417 single base substitution A T intron_variant BRCA-EU 13 52176680 52176680 deletion of <=200bp T - intron_variant BRCA-EU 13 52181815 52181815 single base substitution A C intron_variant BRCA-EU 13 52183096 52183096 single base substitution C G intron_variant BRCA-EU 13 52185800 52185800 single base substitution C T intron_variant BRCA-EU 13 52188803 52188803 single base substitution A T intron_variant BRCA-EU 13 52188879 52188879 single base substitution G C intron_variant BRCA-EU 13 52192310 52192310 single base substitution G C intron_variant BRCA-EU 13 52192649 52192649 single base substitution G C intron_variant BRCA-EU 13 52195356 52195356 single base substitution C T intron_variant BRCA-EU 13 52197092 52197092 single base substitution C G intron_variant BRCA-EU 13 52199741 52199743 deletion of <=200bp TCC - intron_variant BRCA-EU 13 52199771 52199771 single base substitution C G intron_variant BRCA-EU 13 52200752 52200752 deletion of <=200bp A - intron_variant BRCA-EU 13 52203238 52203238 single base substitution C T intron_variant BRCA-EU 13 52204315 52204315 single base substitution C G intron_variant BRCA-EU 13 52204497 52204497 single base substitution C T intron_variant BRCA-EU 13 52206287 52206287 single base substitution G A intron_variant BRCA-EU 13 52207540 52207540 single base substitution T A intron_variant BRCA-EU 13 52209988 52209988 single base substitution A T intron_variant BRCA-EU 13 52211534 52211534 single base substitution G C intron_variant BRCA-EU 13 52212677 52212677 single base substitution G A intron_variant BRCA-EU 13 52213612 52213612 single base substitution T C intron_variant BRCA-EU 13 52213979 52213979 single base substitution G A intron_variant BRCA-EU 13 52216887 52216887 single base substitution C T intron_variant BRCA-EU 13 52217272 52217272 single base substitution G T intron_variant BRCA-EU 13 52218143 52218143 single base substitution A G intron_variant BRCA-EU 13 52218334 52218334 deletion of <=200bp A - intron_variant BRCA-EU 13 52220455 52220455 single base substitution G A intron_variant BRCA-EU 13 52221315 52221315 single base substitution C A intron_variant BRCA-EU 13 52221873 52221873 single base substitution G A intron_variant BRCA-EU 13 52224044 52224044 single base substitution T C intron_variant BRCA-EU 13 52224863 52224863 single base substitution C T intron_variant BRCA-EU 13 52225185 52225185 single base substitution T C intron_variant BRCA-EU 13 52225386 52225386 single base substitution C T intron_variant BRCA-EU 13 52227169 52227169 single base substitution C G intron_variant BRCA-EU 13 52228633 52228633 single base substitution C T intron_variant BRCA-EU 13 52228771 52228771 single base substitution G T intron_variant BRCA-EU 13 52228772 52228772 single base substitution G T intron_variant BRCA-EU 13 52230362 52230362 single base substitution C A intron_variant BRCA-EU 13 52232294 52232294 single base substitution C G intron_variant BRCA-EU 13 52234342 52234342 deletion of <=200bp T - intron_variant BRCA-EU 13 52234424 52234424 single base substitution T C intron_variant BRCA-EU 13 52234867 52234867 single base substitution C G intron_variant BRCA-EU 13 52235545 52235545 single base substitution C G intron_variant BRCA-EU 13 52236079 52236079 deletion of <=200bp T - intron_variant BRCA-EU 13 52236761 52236761 single base substitution A C intron_variant BRCA-EU 13 52236832 52236832 single base substitution C G intron_variant BRCA-EU 13 52238364 52238364 single base substitution G T intron_variant BRCA-EU 13 52239497 52239497 single base substitution C T intron_variant BRCA-EU 13 52241659 52241659 single base substitution G C intron_variant BRCA-EU 13 52241734 52241734 single base substitution C G intron_variant BRCA-EU 13 52244439 52244439 single base substitution T G intron_variant BRCA-EU 13 52245491 52245491 single base substitution C T intron_variant BRCA-EU 13 52245590 52245590 single base substitution C G intron_variant BRCA-EU 13 52247853 52247853 deletion of <=200bp T - intron_variant BRCA-EU 13 52247906 52247906 single base substitution C G intron_variant BRCA-EU 13 52251396 52251396 single base substitution G A intron_variant BRCA-EU 13 52252715 52252715 single base substitution G C intron_variant BRCA-EU 13 52255066 52255066 single base substitution G T intron_variant BRCA-EU 13 52255625 52255625 single base substitution A G intron_variant BRCA-EU 13 52257044 52257044 single base substitution C T intron_variant BRCA-EU 13 52257585 52257585 single base substitution G A intron_variant BRCA-EU 13 52259186 52259186 single base substitution A G intron_variant BRCA-EU 13 52260739 52260739 single base substitution C T intron_variant BRCA-EU 13 52260993 52260993 deletion of <=200bp T - intron_variant BRCA-EU 13 52261739 52261739 single base substitution C A intron_variant BRCA-EU 13 52263248 52263248 single base substitution G C intron_variant BRCA-EU 13 52263792 52263792 single base substitution A G intron_variant BRCA-EU 13 52263888 52263888 single base substitution C A intron_variant BRCA-EU 13 52270189 52270189 single base substitution G A intron_variant BRCA-EU 13 52273527 52273527 single base substitution C T intron_variant BRCA-EU 13 52273693 52273693 single base substitution A G intron_variant BRCA-EU 13 52274187 52274188 deletion of <=200bp AG - intron_variant BRCA-EU 13 52275074 52275074 single base substitution G A intron_variant BRCA-EU 13 52275881 52275881 single base substitution A T intron_variant BRCA-EU 13 52276164 52276164 single base substitution C G intron_variant BRCA-EU 13 52276222 52276222 single base substitution C T intron_variant BRCA-EU 13 52278380 52278380 single base substitution C T intron_variant BRCA-EU 13 52280175 52280175 single base substitution A G intron_variant BRCA-EU 13 52283459 52283459 single base substitution C T intron_variant BRCA-EU 13 52287754 52287754 single base substitution A T intron_variant BRCA-EU 13 52288037 52288037 single base substitution A C intron_variant BRCA-EU 13 52290098 52290098 deletion of <=200bp A - intron_variant BRCA-EU 13 52291426 52291426 single base substitution G T intron_variant BRCA-EU 13 52294967 52294967 insertion of <=200bp - T intron_variant BRCA-EU 13 52295006 52295006 single base substitution C T intron_variant BRCA-EU 13 52295999 52295999 single base substitution C G intron_variant BRCA-EU 13 52298608 52298608 single base substitution C T intron_variant BRCA-EU 13 52302151 52302151 single base substitution G A intron_variant BRCA-EU 13 52302168 52302168 single base substitution C G intron_variant BRCA-EU 13 52302825 52302825 single base substitution G C intron_variant BRCA-EU 13 52302960 52302960 single base substitution G A intron_variant BRCA-EU 13 52303382 52303382 insertion of <=200bp - A intron_variant BRCA-EU 13 52305040 52305040 single base substitution G A intron_variant BRCA-EU 13 52306412 52306412 single base substitution G A intron_variant BRCA-EU 13 52306474 52306474 single base substitution C T intron_variant BRCA-EU 13 52308276 52308276 single base substitution C G intron_variant BRCA-EU 13 52308523 52308523 single base substitution A G intron_variant BRCA-EU 13 52308523 52308523 single base substitution A G upstream_gene_variant BRCA-EU 13 52310854 52310854 single base substitution C G intron_variant BRCA-EU 13 52310854 52310854 single base substitution C G upstream_gene_variant BRCA-EU 13 52311215 52311215 single base substitution C G intron_variant BRCA-EU 13 52311215 52311215 single base substitution C G upstream_gene_variant BRCA-EU 13 52312398 52312398 single base substitution A C intron_variant BRCA-EU 13 52312398 52312398 single base substitution A C upstream_gene_variant BRCA-EU 13 52314382 52314382 single base substitution C G intron_variant BRCA-EU 13 52314397 52314397 single base substitution G A intron_variant BRCA-EU 13 52318604 52318604 single base substitution G C intron_variant BRCA-EU 13 52320048 52320048 single base substitution T C intron_variant BRCA-EU 13 52320186 52320186 single base substitution C T intron_variant BRCA-EU 13 52323696 52323696 single base substitution T C intron_variant BRCA-EU 13 52333087 52333087 single base substitution G C intron_variant BRCA-EU 13 52333766 52333766 single base substitution T G intron_variant BRCA-EU 13 52335779 52335779 single base substitution A C 3_prime_UTR_variant BRCA-EU 13 52338285 52338285 single base substitution C G downstream_gene_variant BRCA-FR 13 52160542 52160542 single base substitution A C intron_variant BRCA-FR 13 52160962 52160962 single base substitution G C intron_variant BRCA-FR 13 52168306 52168306 single base substitution C G intron_variant BRCA-FR 13 52168864 52168864 single base substitution C A intron_variant BRCA-FR 13 52170058 52170058 single base substitution C G intron_variant BRCA-FR 13 52181815 52181815 single base substitution A C intron_variant BRCA-FR 13 52192649 52192649 single base substitution G C intron_variant BRCA-FR 13 52205112 52205112 single base substitution C T intron_variant BRCA-FR 13 52216887 52216887 single base substitution C T intron_variant BRCA-FR 13 52224517 52224517 single base substitution C G intron_variant BRCA-FR 13 52225624 52225624 single base substitution G C intron_variant BRCA-FR 13 52226357 52226357 single base substitution T G intron_variant BRCA-FR 13 52239372 52239372 single base substitution C T intron_variant BRCA-FR 13 52244439 52244439 single base substitution T G intron_variant BRCA-FR 13 52257044 52257044 single base substitution C T intron_variant BRCA-FR 13 52260994 52260994 single base substitution T C intron_variant BRCA-FR 13 52278339 52278339 single base substitution A T intron_variant BRCA-FR 13 52290774 52290774 single base substitution A G intron_variant BRCA-FR 13 52290931 52290931 single base substitution T A intron_variant BRCA-FR 13 52295006 52295006 single base substitution C T intron_variant BRCA-FR 13 52302960 52302960 single base substitution G A intron_variant BRCA-FR 13 52311215 52311215 single base substitution C G intron_variant BRCA-FR 13 52311215 52311215 single base substitution C G upstream_gene_variant BRCA-FR 13 52330220 52330220 single base substitution C A downstream_gene_variant BRCA-FR 13 52330220 52330220 single base substitution C A intron_variant BRCA-FR 13 52333087 52333087 single base substitution G C intron_variant BRCA-FR 13 52338285 52338285 single base substitution C G downstream_gene_variant BRCA-KR 13 52293310 52293310 single base substitution G T intron_variant BRCA-UK 13 52154383 52154383 single base substitution G T upstream_gene_variant BRCA-UK 13 52230213 52230213 single base substitution C G intron_variant BRCA-UK 13 52230762 52230762 single base substitution C T intron_variant BRCA-UK 13 52231096 52231096 single base substitution C G intron_variant BRCA-UK 13 52231615 52231615 single base substitution C T intron_variant BRCA-UK 13 52231656 52231656 single base substitution C T intron_variant BRCA-UK 13 52234587 52234587 single base substitution C T intron_variant BRCA-UK 13 52333766 52333766 single base substitution T G intron_variant BRCA-US 13 52158851 52158851 single base substitution C G missense_variant L10V 28C>G BRCA-US 13 52325491 52325491 single base substitution G A exon_variant BRCA-US 13 52325491 52325491 single base substitution G A synonymous_variant L257L 771G>A BRCA-US 13 52329500 52329500 single base substitution G A downstream_gene_variant BRCA-US 13 52329500 52329500 single base substitution G A missense_variant E280K 838G>A BTCA-JP 13 52158828 52158828 single base substitution C T missense_variant A2V 5C>T BTCA-JP 13 52249412 52249412 single base substitution A T intron_variant BTCA-JP 13 52277775 52277775 single base substitution A C missense_variant K108T 323A>C BTCA-JP 13 52301725 52301725 single base substitution C T intron_variant BTCA-JP 13 52329488 52329488 single base substitution G C downstream_gene_variant BTCA-JP 13 52329488 52329488 single base substitution G C splice_region_variant BTCA-JP 13 52330560 52330560 single base substitution G A downstream_gene_variant BTCA-JP 13 52330560 52330560 single base substitution G A synonymous_variant R342R 1026G>A CESC-US 13 52158943 52158943 single base substitution C T synonymous_variant I40I 120C>T CESC-US 13 52293346 52293346 single base substitution G C missense_variant R116T 347G>C CLLE-ES 13 52162771 52162771 single base substitution C G intron_variant CLLE-ES 13 52179126 52179126 deletion of <=200bp T - intron_variant CLLE-ES 13 52196920 52196920 single base substitution T A intron_variant CLLE-ES 13 52199254 52199254 single base substitution A G intron_variant CLLE-ES 13 52204717 52204717 single base substitution T C intron_variant CLLE-ES 13 52240568 52240568 single base substitution A C intron_variant CLLE-ES 13 52244102 52244102 single base substitution T C intron_variant CLLE-ES 13 52248384 52248384 single base substitution G A intron_variant CLLE-ES 13 52263874 52263874 single base substitution G T intron_variant CLLE-ES 13 52270040 52270040 single base substitution T C intron_variant CLLE-ES 13 52277613 52277613 single base substitution A G intron_variant CLLE-ES 13 52281064 52281064 single base substitution G A intron_variant CLLE-ES 13 52308090 52308090 single base substitution A G intron_variant CLLE-ES 13 52308493 52308493 deletion of <=200bp T - intron_variant CLLE-ES 13 52308493 52308493 deletion of <=200bp T - upstream_gene_variant CLLE-ES 13 52324969 52324969 single base substitution G T intron_variant COAD-US 13 52332341 52332341 single base substitution G T missense_variant A360S 1078G>T COAD-US 13 52332385 52332385 single base substitution C T synonymous_variant F374F 1122C>T COCA-CN 13 52155679 52155679 single base substitution T G upstream_gene_variant COCA-CN 13 52195289 52195289 single base substitution G A intron_variant COCA-CN 13 52224161 52224161 single base substitution C T intron_variant COCA-CN 13 52234656 52234656 single base substitution T G intron_variant COCA-CN 13 52249138 52249138 single base substitution G A intron_variant COCA-CN 13 52270118 52270118 single base substitution G C intron_variant COCA-CN 13 52293315 52293315 single base substitution C A intron_variant COCA-CN 13 52293329 52293329 single base substitution T G splice_region_variant COCA-CN 13 52293407 52293407 single base substitution G T missense_variant K136N 408G>T COCA-CN 13 52313059 52313059 single base substitution T C intron_variant COCA-CN 13 52313059 52313059 single base substitution T C upstream_gene_variant COCA-CN 13 52325499 52325499 single base substitution G A exon_variant COCA-CN 13 52325499 52325499 single base substitution G A missense_variant C260Y 779G>A COCA-CN 13 52332162 52332162 single base substitution T G downstream_gene_variant COCA-CN 13 52332162 52332162 single base substitution T G intron_variant COCA-CN 13 52332329 52332329 single base substitution C T missense_variant R356C 1066C>T EOPC-DE 13 52165634 52165634 single base substitution G A intron_variant EOPC-DE 13 52194522 52194522 single base substitution G A intron_variant EOPC-DE 13 52243463 52243463 single base substitution T C intron_variant ESAD-UK 13 52153939 52153939 single base substitution G T upstream_gene_variant ESAD-UK 13 52154890 52154890 single base substitution A T upstream_gene_variant ESAD-UK 13 52160134 52160134 single base substitution A G intron_variant ESAD-UK 13 52161269 52161269 single base substitution A G intron_variant ESAD-UK 13 52163504 52163504 deletion of <=200bp T - intron_variant ESAD-UK 13 52163741 52163741 single base substitution T C intron_variant ESAD-UK 13 52165106 52165106 single base substitution T G intron_variant ESAD-UK 13 52165164 52165164 single base substitution C G intron_variant ESAD-UK 13 52165965 52165965 single base substitution C A intron_variant ESAD-UK 13 52166482 52166482 single base substitution G A intron_variant ESAD-UK 13 52168752 52168752 single base substitution C T intron_variant ESAD-UK 13 52170032 52170032 insertion of <=200bp - T intron_variant ESAD-UK 13 52174879 52174882 deletion of <=200bp AAGA - intron_variant ESAD-UK 13 52174944 52174944 single base substitution C T intron_variant ESAD-UK 13 52178370 52178370 single base substitution C G intron_variant ESAD-UK 13 52180100 52180100 single base substitution G A intron_variant ESAD-UK 13 52182797 52182797 single base substitution A G intron_variant ESAD-UK 13 52184423 52184423 single base substitution C T intron_variant ESAD-UK 13 52185407 52185407 single base substitution C G intron_variant ESAD-UK 13 52185567 52185567 single base substitution G A intron_variant ESAD-UK 13 52193973 52193973 single base substitution T G intron_variant ESAD-UK 13 52194040 52194040 single base substitution C T intron_variant ESAD-UK 13 52197655 52197655 single base substitution T A intron_variant ESAD-UK 13 52197940 52197940 single base substitution C A intron_variant ESAD-UK 13 52199323 52199323 single base substitution C T intron_variant ESAD-UK 13 52199440 52199440 single base substitution A C intron_variant ESAD-UK 13 52200503 52200503 single base substitution A C intron_variant ESAD-UK 13 52201683 52201683 single base substitution G T intron_variant ESAD-UK 13 52202837 52202837 single base substitution G T intron_variant ESAD-UK 13 52202838 52202838 single base substitution A G intron_variant ESAD-UK 13 52203217 52203217 single base substitution G A intron_variant ESAD-UK 13 52204272 52204272 single base substitution G A intron_variant ESAD-UK 13 52205878 52205878 single base substitution T A intron_variant ESAD-UK 13 52207116 52207116 deletion of <=200bp T - intron_variant ESAD-UK 13 52209026 52209026 single base substitution A G intron_variant ESAD-UK 13 52209734 52209734 single base substitution C T intron_variant ESAD-UK 13 52210068 52210068 single base substitution A G intron_variant ESAD-UK 13 52210355 52210355 single base substitution C T intron_variant ESAD-UK 13 52210822 52210822 single base substitution T G intron_variant ESAD-UK 13 52215091 52215091 single base substitution G A intron_variant ESAD-UK 13 52217207 52217207 single base substitution T A intron_variant ESAD-UK 13 52221223 52221223 single base substitution C G intron_variant ESAD-UK 13 52221318 52221318 single base substitution C G intron_variant ESAD-UK 13 52222578 52222578 single base substitution T G intron_variant ESAD-UK 13 52222639 52222639 single base substitution C T intron_variant ESAD-UK 13 52230785 52230785 single base substitution A T intron_variant ESAD-UK 13 52231132 52231132 single base substitution C G intron_variant ESAD-UK 13 52231876 52231876 single base substitution C A intron_variant ESAD-UK 13 52231900 52231900 single base substitution T G intron_variant ESAD-UK 13 52232613 52232613 single base substitution G T intron_variant ESAD-UK 13 52232624 52232624 single base substitution G A intron_variant ESAD-UK 13 52234578 52234578 single base substitution C T intron_variant ESAD-UK 13 52236762 52236762 single base substitution G C intron_variant ESAD-UK 13 52238638 52238638 single base substitution A G intron_variant ESAD-UK 13 52240101 52240101 single base substitution C T intron_variant ESAD-UK 13 52240413 52240413 single base substitution G A intron_variant ESAD-UK 13 52242470 52242470 single base substitution C G intron_variant ESAD-UK 13 52243534 52243535 deletion of <=200bp CT - intron_variant ESAD-UK 13 52244146 52244146 single base substitution G A intron_variant ESAD-UK 13 52245463 52245463 single base substitution C T intron_variant ESAD-UK 13 52247452 52247452 single base substitution A C intron_variant ESAD-UK 13 52247764 52247764 single base substitution A G intron_variant ESAD-UK 13 52248790 52248797 deletion of <=200bp CTCCTGTT - intron_variant ESAD-UK 13 52250119 52250119 single base substitution G A intron_variant ESAD-UK 13 52254187 52254187 single base substitution A G intron_variant ESAD-UK 13 52254824 52254824 single base substitution A C intron_variant ESAD-UK 13 52255700 52255700 single base substitution T A intron_variant ESAD-UK 13 52255702 52255702 single base substitution A T intron_variant ESAD-UK 13 52257390 52257390 single base substitution T C intron_variant ESAD-UK 13 52259196 52259196 single base substitution C G intron_variant ESAD-UK 13 52261743 52261743 single base substitution A T intron_variant ESAD-UK 13 52263408 52263408 single base substitution G A intron_variant ESAD-UK 13 52263793 52263793 single base substitution T G intron_variant ESAD-UK 13 52264333 52264333 insertion of <=200bp - T intron_variant ESAD-UK 13 52264335 52264335 single base substitution T A intron_variant ESAD-UK 13 52267263 52267263 single base substitution G C intron_variant ESAD-UK 13 52268287 52268287 single base substitution T C intron_variant ESAD-UK 13 52270240 52270240 single base substitution G T intron_variant ESAD-UK 13 52271649 52271649 single base substitution G A intron_variant ESAD-UK 13 52272581 52272581 single base substitution T G intron_variant ESAD-UK 13 52274606 52274606 single base substitution T C intron_variant ESAD-UK 13 52281960 52281960 single base substitution G A intron_variant ESAD-UK 13 52282224 52282224 single base substitution G T intron_variant ESAD-UK 13 52282650 52282650 single base substitution C A intron_variant ESAD-UK 13 52283403 52283403 single base substitution C T intron_variant ESAD-UK 13 52286582 52286582 deletion of <=200bp A - intron_variant ESAD-UK 13 52286711 52286711 single base substitution C T intron_variant ESAD-UK 13 52288933 52288933 single base substitution C T intron_variant ESAD-UK 13 52289810 52289810 single base substitution G C intron_variant ESAD-UK 13 52290262 52290262 single base substitution G A intron_variant ESAD-UK 13 52291427 52291427 single base substitution T G intron_variant ESAD-UK 13 52293129 52293129 single base substitution T G intron_variant ESAD-UK 13 52295319 52295319 single base substitution G A intron_variant ESAD-UK 13 52298508 52298508 single base substitution A C intron_variant ESAD-UK 13 52299255 52299255 single base substitution T G intron_variant ESAD-UK 13 52301018 52301018 single base substitution C G intron_variant ESAD-UK 13 52301617 52301623 deletion of <=200bp TTTAAGT - intron_variant ESAD-UK 13 52302693 52302694 deletion of <=200bp GA - intron_variant ESAD-UK 13 52304966 52304966 single base substitution G A intron_variant ESAD-UK 13 52307452 52307452 single base substitution C T intron_variant ESAD-UK 13 52310080 52310081 deletion of <=200bp CT - intron_variant ESAD-UK 13 52310080 52310081 deletion of <=200bp CT - upstream_gene_variant ESAD-UK 13 52312504 52312504 single base substitution G C intron_variant ESAD-UK 13 52312504 52312504 single base substitution G C upstream_gene_variant ESAD-UK 13 52312803 52312803 single base substitution T A intron_variant ESAD-UK 13 52312803 52312803 single base substitution T A upstream_gene_variant ESAD-UK 13 52313398 52313398 single base substitution A C intron_variant ESAD-UK 13 52313530 52313530 single base substitution C A intron_variant ESAD-UK 13 52316620 52316620 single base substitution C A intron_variant ESAD-UK 13 52318476 52318476 single base substitution G A intron_variant ESAD-UK 13 52326622 52326622 deletion of <=200bp T - intron_variant ESAD-UK 13 52327569 52327569 single base substitution T A downstream_gene_variant ESAD-UK 13 52327569 52327569 single base substitution T A intron_variant ESAD-UK 13 52327740 52327740 deletion of <=200bp T - downstream_gene_variant ESAD-UK 13 52327740 52327740 deletion of <=200bp T - intron_variant ESAD-UK 13 52333105 52333105 single base substitution C T intron_variant ESAD-UK 13 52334362 52334362 single base substitution A G 3_prime_UTR_variant ESAD-UK 13 52335106 52335106 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 52337982 52337982 single base substitution A G downstream_gene_variant ESAD-UK 13 52339992 52339992 single base substitution C G downstream_gene_variant ESAD-UK 13 52340441 52340441 single base substitution G A downstream_gene_variant ESAD-UK 13 52340814 52340814 single base substitution G A downstream_gene_variant GBM-US 13 52234797 52234797 single base substitution C G missense_variant P68R 203C>G KIRC-US 13 52293353 52293353 single base substitution G C synonymous_variant T118T 354G>C LAML-KR 13 52245938 52245938 single base substitution G T intron_variant LAML-KR 13 52260913 52260913 single base substitution T C intron_variant LAML-KR 13 52269782 52269782 single base substitution C T intron_variant LAML-KR 13 52269814 52269814 single base substitution T C intron_variant LAML-KR 13 52325415 52325415 single base substitution A C intron_variant LICA-FR 13 52166542 52166542 single base substitution C T intron_variant LICA-FR 13 52195914 52195914 single base substitution A G intron_variant LICA-FR 13 52219847 52219847 single base substitution G T intron_variant LICA-FR 13 52221902 52221902 deletion of <=200bp A - intron_variant LICA-FR 13 52230190 52230190 deletion of <=200bp T - intron_variant LICA-FR 13 52251517 52251517 single base substitution T A intron_variant LICA-FR 13 52322228 52322228 single base substitution T C intron_variant LICA-FR 13 52323583 52323583 single base substitution A G intron_variant LICA-FR 13 52328302 52328302 single base substitution A G downstream_gene_variant LICA-FR 13 52328302 52328302 single base substitution A G intron_variant LIHC-US 13 52301872 52301872 single base substitution C A missense_variant L182I 544C>A LINC-JP 13 52160794 52160794 single base substitution G T intron_variant LINC-JP 13 52161745 52161745 single base substitution A T intron_variant LINC-JP 13 52168546 52168546 single base substitution G T intron_variant LINC-JP 13 52172080 52172080 single base substitution G T intron_variant LINC-JP 13 52239773 52239773 insertion of <=200bp - AT intron_variant LINC-JP 13 52243717 52243717 single base substitution A C intron_variant LINC-JP 13 52251626 52251626 single base substitution C A intron_variant LINC-JP 13 52266807 52266807 single base substitution T G intron_variant LINC-JP 13 52290255 52290255 single base substitution A G intron_variant LINC-JP 13 52303844 52303844 single base substitution A T intron_variant LINC-JP 13 52308682 52308682 single base substitution A T intron_variant LINC-JP 13 52308682 52308682 single base substitution A T upstream_gene_variant LIRI-JP 13 52157315 52157315 single base substitution T C upstream_gene_variant LIRI-JP 13 52164673 52164673 single base substitution G A intron_variant LIRI-JP 13 52166987 52166987 single base substitution G T intron_variant LIRI-JP 13 52170339 52170339 single base substitution C G intron_variant LIRI-JP 13 52171513 52171513 single base substitution A G intron_variant LIRI-JP 13 52171703 52171703 single base substitution G T intron_variant LIRI-JP 13 52177265 52177265 single base substitution C T intron_variant LIRI-JP 13 52179127 52179127 single base substitution C T intron_variant LIRI-JP 13 52179444 52179444 single base substitution A G intron_variant LIRI-JP 13 52183990 52183990 single base substitution A G intron_variant LIRI-JP 13 52190208 52190208 single base substitution C T intron_variant LIRI-JP 13 52190854 52190854 single base substitution G C intron_variant LIRI-JP 13 52192821 52192821 single base substitution T A intron_variant LIRI-JP 13 52195338 52195338 single base substitution A G intron_variant LIRI-JP 13 52195676 52195676 single base substitution C T intron_variant LIRI-JP 13 52195858 52195858 single base substitution C G intron_variant LIRI-JP 13 52197693 52197693 single base substitution A G intron_variant LIRI-JP 13 52199634 52199634 single base substitution T C intron_variant LIRI-JP 13 52200364 52200364 single base substitution G A intron_variant LIRI-JP 13 52200538 52200538 single base substitution A T intron_variant LIRI-JP 13 52201198 52201198 single base substitution G A intron_variant LIRI-JP 13 52201199 52201199 single base substitution G T intron_variant LIRI-JP 13 52203567 52203567 single base substitution C T intron_variant LIRI-JP 13 52204643 52204643 single base substitution C G intron_variant LIRI-JP 13 52205293 52205293 single base substitution C T intron_variant LIRI-JP 13 52205586 52205586 single base substitution A T intron_variant LIRI-JP 13 52207720 52207720 single base substitution A G intron_variant LIRI-JP 13 52209697 52209697 single base substitution C G intron_variant LIRI-JP 13 52210253 52210253 single base substitution A T intron_variant LIRI-JP 13 52210840 52210840 single base substitution G T intron_variant LIRI-JP 13 52211127 52211127 single base substitution A G intron_variant LIRI-JP 13 52213751 52213751 single base substitution T A intron_variant LIRI-JP 13 52214017 52214017 single base substitution T C intron_variant LIRI-JP 13 52216039 52216039 single base substitution G A intron_variant LIRI-JP 13 52217231 52217231 single base substitution A G intron_variant LIRI-JP 13 52217467 52217467 single base substitution G A intron_variant LIRI-JP 13 52217827 52217827 single base substitution A G intron_variant LIRI-JP 13 52219242 52219242 single base substitution C G intron_variant LIRI-JP 13 52223370 52223370 single base substitution G C intron_variant LIRI-JP 13 52227885 52227885 single base substitution C G intron_variant LIRI-JP 13 52228948 52228948 single base substitution C G intron_variant LIRI-JP 13 52233904 52233904 single base substitution A G intron_variant LIRI-JP 13 52235932 52235932 single base substitution C G intron_variant LIRI-JP 13 52237807 52237807 single base substitution A T intron_variant LIRI-JP 13 52238692 52238692 single base substitution A G intron_variant LIRI-JP 13 52240761 52240761 single base substitution C A intron_variant LIRI-JP 13 52240901 52240901 single base substitution G T intron_variant LIRI-JP 13 52244263 52244263 single base substitution C T intron_variant LIRI-JP 13 52246607 52246607 single base substitution G A intron_variant LIRI-JP 13 52248318 52248318 single base substitution A G intron_variant LIRI-JP 13 52248810 52248810 single base substitution C A intron_variant LIRI-JP 13 52252199 52252199 single base substitution A G intron_variant LIRI-JP 13 52254105 52254105 single base substitution C T intron_variant LIRI-JP 13 52254689 52254689 single base substitution C G intron_variant LIRI-JP 13 52254713 52254728 deletion of <=200bp ATATTGTATCTACTGT - intron_variant LIRI-JP 13 52257716 52257716 single base substitution A G intron_variant LIRI-JP 13 52258427 52258427 single base substitution T A intron_variant LIRI-JP 13 52260233 52260233 single base substitution A T intron_variant LIRI-JP 13 52260255 52260255 insertion of <=200bp - T intron_variant LIRI-JP 13 52261150 52261150 single base substitution T G intron_variant LIRI-JP 13 52263193 52263193 single base substitution A G intron_variant LIRI-JP 13 52264622 52264622 single base substitution A G intron_variant LIRI-JP 13 52272231 52272231 single base substitution A T intron_variant LIRI-JP 13 52272943 52272943 single base substitution T G intron_variant LIRI-JP 13 52273616 52273616 single base substitution A G intron_variant LIRI-JP 13 52274264 52274264 single base substitution G C intron_variant LIRI-JP 13 52274267 52274267 single base substitution T A intron_variant LIRI-JP 13 52280450 52280450 single base substitution T C intron_variant LIRI-JP 13 52282614 52282614 single base substitution C T intron_variant LIRI-JP 13 52282879 52282879 single base substitution G A intron_variant LIRI-JP 13 52283880 52283880 single base substitution G A intron_variant LIRI-JP 13 52286127 52286127 single base substitution G A intron_variant LIRI-JP 13 52289142 52289142 single base substitution A C intron_variant LIRI-JP 13 52289861 52289861 single base substitution A T intron_variant LIRI-JP 13 52293512 52293512 single base substitution A T intron_variant LIRI-JP 13 52295545 52295545 single base substitution C T intron_variant LIRI-JP 13 52295738 52295738 single base substitution A T intron_variant LIRI-JP 13 52295765 52295765 single base substitution C A intron_variant LIRI-JP 13 52295806 52295806 single base substitution T A intron_variant LIRI-JP 13 52298684 52298684 single base substitution T G intron_variant LIRI-JP 13 52302002 52302002 single base substitution T C intron_variant LIRI-JP 13 52307720 52307720 single base substitution G A intron_variant LIRI-JP 13 52310176 52310176 single base substitution T C intron_variant LIRI-JP 13 52310176 52310176 single base substitution T C upstream_gene_variant LIRI-JP 13 52310841 52310841 single base substitution C G intron_variant LIRI-JP 13 52310841 52310841 single base substitution C G upstream_gene_variant LIRI-JP 13 52313321 52313321 single base substitution C T intron_variant LIRI-JP 13 52316608 52316609 deletion of <=200bp TA - intron_variant LIRI-JP 13 52318426 52318426 single base substitution T A intron_variant LIRI-JP 13 52322669 52322669 single base substitution G T intron_variant LIRI-JP 13 52323305 52323305 single base substitution A G intron_variant LIRI-JP 13 52324793 52324793 single base substitution T C intron_variant LIRI-JP 13 52327171 52327171 single base substitution A G exon_variant LIRI-JP 13 52327171 52327171 single base substitution A G intron_variant LIRI-JP 13 52327507 52327507 single base substitution T C downstream_gene_variant LIRI-JP 13 52327507 52327507 single base substitution T C intron_variant LIRI-JP 13 52327584 52327584 single base substitution T C downstream_gene_variant LIRI-JP 13 52327584 52327584 single base substitution T C intron_variant LIRI-JP 13 52333674 52333674 single base substitution A C intron_variant LIRI-JP 13 52334624 52334624 single base substitution C A 3_prime_UTR_variant LIRI-JP 13 52335348 52335348 single base substitution A G 3_prime_UTR_variant LIRI-JP 13 52335871 52335871 single base substitution C T 3_prime_UTR_variant LIRI-JP 13 52338309 52338309 single base substitution A G downstream_gene_variant LIRI-JP 13 52339026 52339026 single base substitution A G downstream_gene_variant LIRI-JP 13 52340484 52340484 single base substitution C T downstream_gene_variant LIRI-JP 13 52340682 52340682 single base substitution T C downstream_gene_variant LUSC-KR 13 52154488 52154488 single base substitution A G upstream_gene_variant LUSC-KR 13 52164645 52164645 single base substitution C T intron_variant LUSC-KR 13 52167361 52167361 single base substitution A T intron_variant LUSC-KR 13 52167864 52167864 single base substitution A G intron_variant LUSC-KR 13 52172173 52172173 single base substitution C T intron_variant LUSC-KR 13 52172288 52172288 single base substitution G T intron_variant LUSC-KR 13 52172399 52172399 single base substitution G A intron_variant LUSC-KR 13 52173064 52173064 single base substitution G T intron_variant LUSC-KR 13 52173334 52173334 single base substitution C T intron_variant LUSC-KR 13 52176695 52176695 single base substitution A G intron_variant LUSC-KR 13 52179859 52179859 single base substitution G A intron_variant LUSC-KR 13 52202790 52202790 single base substitution G C intron_variant LUSC-KR 13 52229447 52229447 single base substitution A T intron_variant LUSC-KR 13 52230242 52230242 single base substitution G C intron_variant LUSC-KR 13 52230957 52230957 single base substitution G C intron_variant LUSC-KR 13 52235322 52235322 single base substitution G T intron_variant LUSC-KR 13 52236904 52236904 single base substitution G A intron_variant LUSC-KR 13 52238666 52238666 single base substitution A C intron_variant LUSC-KR 13 52245984 52245984 single base substitution A G intron_variant LUSC-KR 13 52268768 52268768 single base substitution A G intron_variant LUSC-KR 13 52280261 52280261 single base substitution A T intron_variant LUSC-KR 13 52289471 52289471 single base substitution C T intron_variant LUSC-KR 13 52289596 52289596 single base substitution C G intron_variant LUSC-KR 13 52293850 52293850 single base substitution A G intron_variant LUSC-KR 13 52329697 52329697 single base substitution G T downstream_gene_variant LUSC-KR 13 52329697 52329697 single base substitution G T intron_variant LUSC-KR 13 52334619 52334619 single base substitution C T 3_prime_UTR_variant LUSC-KR 13 52335452 52335452 single base substitution C A 3_prime_UTR_variant LUSC-US 13 52325496 52325496 single base substitution C T exon_variant LUSC-US 13 52325496 52325496 single base substitution C T missense_variant S259F 776C>T MALY-DE 13 52176912 52176912 single base substitution A T intron_variant MALY-DE 13 52189784 52189784 single base substitution T A intron_variant MALY-DE 13 52190055 52190055 single base substitution T G intron_variant MALY-DE 13 52192330 52192332 deletion of <=200bp CTT - intron_variant MALY-DE 13 52193341 52193341 single base substitution T C intron_variant MALY-DE 13 52198272 52198272 single base substitution C T intron_variant MALY-DE 13 52201354 52201354 single base substitution A T intron_variant MALY-DE 13 52203504 52203504 single base substitution T C intron_variant MALY-DE 13 52216452 52216452 insertion of <=200bp - CTTG intron_variant MALY-DE 13 52218314 52218314 single base substitution T A intron_variant MALY-DE 13 52219797 52219797 single base substitution T C intron_variant MALY-DE 13 52237327 52237327 single base substitution T C intron_variant MALY-DE 13 52242325 52242325 single base substitution C G intron_variant MALY-DE 13 52245714 52245714 single base substitution A T intron_variant MALY-DE 13 52247645 52247645 single base substitution G A intron_variant MALY-DE 13 52249562 52249562 single base substitution C T intron_variant MALY-DE 13 52250264 52250264 single base substitution A C intron_variant MALY-DE 13 52251245 52251245 single base substitution C T intron_variant MALY-DE 13 52252362 52252362 single base substitution G C intron_variant MALY-DE 13 52271611 52271611 single base substitution A G intron_variant MALY-DE 13 52275147 52275147 single base substitution G C intron_variant MALY-DE 13 52278691 52278691 single base substitution A C intron_variant MALY-DE 13 52281184 52281184 single base substitution G A intron_variant MALY-DE 13 52282587 52282587 single base substitution C A intron_variant MALY-DE 13 52289145 52289165 deletion of <=200bp TGCTGCAAAAGATTTAAAAAA - intron_variant MALY-DE 13 52292595 52292595 single base substitution A C intron_variant MALY-DE 13 52303931 52303931 single base substitution A C intron_variant MALY-DE 13 52308831 52308831 single base substitution G T intron_variant MALY-DE 13 52308831 52308831 single base substitution G T upstream_gene_variant MALY-DE 13 52315369 52315369 single base substitution T A intron_variant MALY-DE 13 52328008 52328008 single base substitution G T downstream_gene_variant MALY-DE 13 52328008 52328008 single base substitution G T intron_variant MALY-DE 13 52331350 52331350 single base substitution C T downstream_gene_variant MALY-DE 13 52331350 52331350 single base substitution C T intron_variant MALY-DE 13 52338768 52338768 single base substitution C A downstream_gene_variant MELA-AU 13 52153797 52153797 single base substitution G A upstream_gene_variant MELA-AU 13 52153855 52153855 single base substitution G A upstream_gene_variant MELA-AU 13 52153973 52153973 single base substitution G A upstream_gene_variant MELA-AU 13 52154362 52154362 single base substitution C T upstream_gene_variant MELA-AU 13 52154478 52154478 single base substitution G A upstream_gene_variant MELA-AU 13 52154728 52154728 single base substitution G A upstream_gene_variant MELA-AU 13 52154847 52154847 single base substitution G A upstream_gene_variant MELA-AU 13 52154966 52154966 single base substitution A G upstream_gene_variant MELA-AU 13 52155196 52155196 single base substitution C T upstream_gene_variant MELA-AU 13 52155206 52155206 single base substitution G A upstream_gene_variant MELA-AU 13 52156055 52156055 single base substitution G A upstream_gene_variant MELA-AU 13 52156073 52156073 single base substitution G A upstream_gene_variant MELA-AU 13 52156504 52156504 single base substitution C T upstream_gene_variant MELA-AU 13 52156596 52156596 single base substitution C T upstream_gene_variant MELA-AU 13 52156769 52156769 single base substitution G A upstream_gene_variant MELA-AU 13 52156968 52156968 single base substitution G A upstream_gene_variant MELA-AU 13 52157064 52157064 single base substitution G A upstream_gene_variant MELA-AU 13 52157209 52157209 single base substitution G A upstream_gene_variant MELA-AU 13 52157984 52157984 single base substitution G A upstream_gene_variant MELA-AU 13 52158146 52158147 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 52158147 52158147 single base substitution C T upstream_gene_variant MELA-AU 13 52158223 52158223 single base substitution G A upstream_gene_variant MELA-AU 13 52158229 52158229 single base substitution C T upstream_gene_variant MELA-AU 13 52158503 52158503 single base substitution G A upstream_gene_variant MELA-AU 13 52158530 52158530 single base substitution G A upstream_gene_variant MELA-AU 13 52158577 52158577 single base substitution G A upstream_gene_variant MELA-AU 13 52158988 52158988 single base substitution G A intron_variant MELA-AU 13 52160386 52160386 single base substitution C T intron_variant MELA-AU 13 52161178 52161178 single base substitution C T intron_variant MELA-AU 13 52161952 52161952 single base substitution C T intron_variant MELA-AU 13 52163439 52163439 single base substitution A T intron_variant MELA-AU 13 52163506 52163506 single base substitution T C intron_variant MELA-AU 13 52164036 52164036 single base substitution C T intron_variant MELA-AU 13 52164845 52164845 single base substitution G A intron_variant MELA-AU 13 52166503 52166503 single base substitution G A intron_variant MELA-AU 13 52168409 52168409 single base substitution C T intron_variant MELA-AU 13 52168536 52168536 single base substitution C T intron_variant MELA-AU 13 52168835 52168835 single base substitution C T intron_variant MELA-AU 13 52168915 52168915 single base substitution G A intron_variant MELA-AU 13 52168976 52168976 single base substitution T C intron_variant MELA-AU 13 52169449 52169449 deletion of <=200bp T - intron_variant MELA-AU 13 52169478 52169479 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52170521 52170521 single base substitution C T intron_variant MELA-AU 13 52170580 52170580 single base substitution G A intron_variant MELA-AU 13 52171023 52171023 single base substitution G A intron_variant MELA-AU 13 52172727 52172727 single base substitution C T intron_variant MELA-AU 13 52172934 52172934 single base substitution A G intron_variant MELA-AU 13 52173085 52173085 single base substitution A G intron_variant MELA-AU 13 52173462 52173462 single base substitution C T intron_variant MELA-AU 13 52174244 52174244 single base substitution C T intron_variant MELA-AU 13 52175403 52175403 single base substitution G A intron_variant MELA-AU 13 52175404 52175404 single base substitution G A intron_variant MELA-AU 13 52175453 52175453 single base substitution A T intron_variant MELA-AU 13 52175793 52175793 single base substitution C T intron_variant MELA-AU 13 52177788 52177788 single base substitution G A intron_variant MELA-AU 13 52177853 52177853 single base substitution G A intron_variant MELA-AU 13 52178273 52178273 single base substitution C T intron_variant MELA-AU 13 52178936 52178936 single base substitution G A intron_variant MELA-AU 13 52179076 52179076 single base substitution C T intron_variant MELA-AU 13 52179699 52179699 single base substitution A G intron_variant MELA-AU 13 52180862 52180862 single base substitution C T intron_variant MELA-AU 13 52181038 52181038 single base substitution G A intron_variant MELA-AU 13 52181477 52181477 single base substitution C T intron_variant MELA-AU 13 52181851 52181851 single base substitution C T intron_variant MELA-AU 13 52182385 52182385 single base substitution G A intron_variant MELA-AU 13 52182442 52182442 single base substitution C T intron_variant MELA-AU 13 52182639 52182639 single base substitution G A intron_variant MELA-AU 13 52184391 52184391 deletion of <=200bp G - intron_variant MELA-AU 13 52184738 52184738 single base substitution C T intron_variant MELA-AU 13 52186642 52186642 single base substitution T C intron_variant MELA-AU 13 52186993 52186993 single base substitution T A intron_variant MELA-AU 13 52187425 52187425 single base substitution C T intron_variant MELA-AU 13 52187428 52187428 single base substitution C T intron_variant MELA-AU 13 52187955 52187955 single base substitution C T intron_variant MELA-AU 13 52188276 52188276 single base substitution C T intron_variant MELA-AU 13 52188661 52188661 single base substitution T G intron_variant MELA-AU 13 52189301 52189301 single base substitution T C intron_variant MELA-AU 13 52190341 52190341 single base substitution C T intron_variant MELA-AU 13 52191675 52191675 single base substitution C T intron_variant MELA-AU 13 52191739 52191739 single base substitution T C intron_variant MELA-AU 13 52193178 52193178 single base substitution C T intron_variant MELA-AU 13 52193482 52193482 single base substitution C T intron_variant MELA-AU 13 52193709 52193709 single base substitution G C intron_variant MELA-AU 13 52194120 52194120 single base substitution G A intron_variant MELA-AU 13 52194399 52194399 single base substitution C T intron_variant MELA-AU 13 52194626 52194626 single base substitution C T intron_variant MELA-AU 13 52195823 52195823 single base substitution T A intron_variant MELA-AU 13 52195866 52195866 single base substitution T C intron_variant MELA-AU 13 52196064 52196064 single base substitution C T intron_variant MELA-AU 13 52196516 52196516 single base substitution G A intron_variant MELA-AU 13 52196714 52196714 single base substitution C T intron_variant MELA-AU 13 52197033 52197033 single base substitution A G intron_variant MELA-AU 13 52197539 52197539 single base substitution C T intron_variant MELA-AU 13 52198593 52198593 single base substitution C T intron_variant MELA-AU 13 52198744 52198744 single base substitution T C intron_variant MELA-AU 13 52198834 52198834 single base substitution G A intron_variant MELA-AU 13 52198848 52198848 single base substitution C T intron_variant MELA-AU 13 52199316 52199316 single base substitution A T intron_variant MELA-AU 13 52199342 52199342 single base substitution T G intron_variant MELA-AU 13 52199724 52199724 single base substitution T C intron_variant MELA-AU 13 52200826 52200826 single base substitution C T intron_variant MELA-AU 13 52200901 52200901 single base substitution C T intron_variant MELA-AU 13 52201498 52201498 single base substitution C T intron_variant MELA-AU 13 52201885 52201885 single base substitution G A intron_variant MELA-AU 13 52202170 52202170 single base substitution C T intron_variant MELA-AU 13 52202450 52202450 single base substitution C G intron_variant MELA-AU 13 52202472 52202472 single base substitution G T intron_variant MELA-AU 13 52202832 52202832 single base substitution T G intron_variant MELA-AU 13 52203266 52203266 single base substitution C T intron_variant MELA-AU 13 52203280 52203280 single base substitution C T intron_variant MELA-AU 13 52203648 52203648 single base substitution A G intron_variant MELA-AU 13 52204764 52204764 single base substitution G A intron_variant MELA-AU 13 52204956 52204956 single base substitution C T intron_variant MELA-AU 13 52205593 52205593 single base substitution C T intron_variant MELA-AU 13 52206090 52206090 single base substitution G A intron_variant MELA-AU 13 52206383 52206383 single base substitution C T intron_variant MELA-AU 13 52206455 52206455 single base substitution C T intron_variant MELA-AU 13 52207366 52207366 single base substitution C G intron_variant MELA-AU 13 52207892 52207893 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52207898 52207898 single base substitution G T intron_variant MELA-AU 13 52208381 52208381 deletion of <=200bp C - intron_variant MELA-AU 13 52210052 52210052 single base substitution C T intron_variant MELA-AU 13 52210102 52210102 single base substitution C G intron_variant MELA-AU 13 52210176 52210176 single base substitution C T intron_variant MELA-AU 13 52210915 52210915 single base substitution A C intron_variant MELA-AU 13 52210916 52210917 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 52210970 52210970 single base substitution C T intron_variant MELA-AU 13 52211433 52211433 single base substitution C T intron_variant MELA-AU 13 52211839 52211839 single base substitution A T intron_variant MELA-AU 13 52212259 52212259 single base substitution G A intron_variant MELA-AU 13 52212757 52212758 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52213995 52213995 single base substitution C T intron_variant MELA-AU 13 52214774 52214774 single base substitution C T intron_variant MELA-AU 13 52214991 52214991 single base substitution C A intron_variant MELA-AU 13 52215422 52215422 single base substitution C T intron_variant MELA-AU 13 52215989 52215989 single base substitution A T intron_variant MELA-AU 13 52216516 52216516 single base substitution C T intron_variant MELA-AU 13 52217157 52217157 single base substitution A T intron_variant MELA-AU 13 52217440 52217440 single base substitution A T intron_variant MELA-AU 13 52218628 52218629 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 13 52219266 52219266 single base substitution C T intron_variant MELA-AU 13 52220641 52220641 single base substitution C T intron_variant MELA-AU 13 52221479 52221479 single base substitution C T intron_variant MELA-AU 13 52221864 52221864 single base substitution C T intron_variant MELA-AU 13 52222635 52222635 single base substitution C T intron_variant MELA-AU 13 52222737 52222737 single base substitution C T intron_variant MELA-AU 13 52223721 52223721 single base substitution C T intron_variant MELA-AU 13 52224522 52224522 single base substitution C T intron_variant MELA-AU 13 52225138 52225138 single base substitution C T intron_variant MELA-AU 13 52225549 52225550 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52225703 52225703 single base substitution C T intron_variant MELA-AU 13 52225730 52225730 single base substitution C T intron_variant MELA-AU 13 52226052 52226052 single base substitution C T intron_variant MELA-AU 13 52226505 52226505 single base substitution C T intron_variant MELA-AU 13 52226707 52226707 single base substitution C T intron_variant MELA-AU 13 52226980 52226980 single base substitution C T intron_variant MELA-AU 13 52227298 52227298 single base substitution C T intron_variant MELA-AU 13 52227553 52227553 single base substitution C T intron_variant MELA-AU 13 52227653 52227653 single base substitution C T intron_variant MELA-AU 13 52227751 52227751 single base substitution C T intron_variant MELA-AU 13 52227792 52227792 single base substitution T C intron_variant MELA-AU 13 52227820 52227820 single base substitution T G intron_variant MELA-AU 13 52228251 52228251 single base substitution C T intron_variant MELA-AU 13 52228358 52228358 single base substitution C T intron_variant MELA-AU 13 52228443 52228443 single base substitution C T intron_variant MELA-AU 13 52228448 52228448 single base substitution C T intron_variant MELA-AU 13 52228697 52228697 single base substitution C T intron_variant MELA-AU 13 52228698 52228698 single base substitution C T intron_variant MELA-AU 13 52229283 52229283 single base substitution C T intron_variant MELA-AU 13 52229312 52229312 single base substitution C T intron_variant MELA-AU 13 52230570 52230570 single base substitution C T intron_variant MELA-AU 13 52231071 52231071 single base substitution C T intron_variant MELA-AU 13 52231315 52231315 single base substitution T C intron_variant MELA-AU 13 52231936 52231936 single base substitution C T intron_variant MELA-AU 13 52232160 52232160 single base substitution C T intron_variant MELA-AU 13 52233058 52233058 single base substitution T C intron_variant MELA-AU 13 52233349 52233349 single base substitution C T intron_variant MELA-AU 13 52233384 52233384 single base substitution C T intron_variant MELA-AU 13 52234587 52234587 single base substitution C T intron_variant MELA-AU 13 52234830 52234830 single base substitution C T intron_variant MELA-AU 13 52234929 52234929 single base substitution C T intron_variant MELA-AU 13 52235070 52235070 deletion of <=200bp T - intron_variant MELA-AU 13 52235326 52235326 single base substitution C T intron_variant MELA-AU 13 52235484 52235484 single base substitution C T intron_variant MELA-AU 13 52236042 52236042 single base substitution G A intron_variant MELA-AU 13 52236205 52236205 single base substitution C T intron_variant MELA-AU 13 52236507 52236507 single base substitution C T intron_variant MELA-AU 13 52236960 52236960 single base substitution C T intron_variant MELA-AU 13 52236969 52236969 single base substitution A T intron_variant MELA-AU 13 52237305 52237305 single base substitution C T intron_variant MELA-AU 13 52237567 52237567 single base substitution C T intron_variant MELA-AU 13 52238134 52238134 single base substitution C T intron_variant MELA-AU 13 52238167 52238167 single base substitution G A intron_variant MELA-AU 13 52238286 52238286 single base substitution G T intron_variant MELA-AU 13 52240021 52240021 single base substitution C T intron_variant MELA-AU 13 52240112 52240112 single base substitution C T intron_variant MELA-AU 13 52240351 52240351 single base substitution C T intron_variant MELA-AU 13 52242250 52242250 single base substitution C T intron_variant MELA-AU 13 52242633 52242633 single base substitution C T intron_variant MELA-AU 13 52243036 52243036 single base substitution A G intron_variant MELA-AU 13 52243280 52243280 single base substitution C T intron_variant MELA-AU 13 52243488 52243488 single base substitution A T intron_variant MELA-AU 13 52243784 52243784 single base substitution C T intron_variant MELA-AU 13 52244125 52244125 single base substitution C T intron_variant MELA-AU 13 52244525 52244525 single base substitution T A intron_variant MELA-AU 13 52244955 52244955 single base substitution C T intron_variant MELA-AU 13 52245332 52245332 single base substitution C T intron_variant MELA-AU 13 52245435 52245436 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52245485 52245485 single base substitution C T intron_variant MELA-AU 13 52245491 52245491 single base substitution C T intron_variant MELA-AU 13 52247300 52247300 single base substitution T C intron_variant MELA-AU 13 52248000 52248000 single base substitution T G intron_variant MELA-AU 13 52248300 52248300 single base substitution T C intron_variant MELA-AU 13 52248303 52248304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52250834 52250835 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52251447 52251447 single base substitution G A intron_variant MELA-AU 13 52251745 52251745 single base substitution C T intron_variant MELA-AU 13 52252066 52252066 single base substitution C T intron_variant MELA-AU 13 52252962 52252962 single base substitution C T intron_variant MELA-AU 13 52253680 52253680 single base substitution A G intron_variant MELA-AU 13 52254095 52254095 single base substitution C T intron_variant MELA-AU 13 52254170 52254170 single base substitution C T intron_variant MELA-AU 13 52254222 52254222 single base substitution G T intron_variant MELA-AU 13 52254584 52254584 single base substitution C T intron_variant MELA-AU 13 52254628 52254628 single base substitution C T intron_variant MELA-AU 13 52254813 52254813 single base substitution G A intron_variant MELA-AU 13 52255075 52255075 single base substitution G A intron_variant MELA-AU 13 52255420 52255421 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 13 52256678 52256678 single base substitution G A intron_variant MELA-AU 13 52257154 52257154 single base substitution G A intron_variant MELA-AU 13 52257396 52257396 single base substitution A G intron_variant MELA-AU 13 52257625 52257625 single base substitution C T intron_variant MELA-AU 13 52258382 52258382 single base substitution G A intron_variant MELA-AU 13 52258665 52258665 single base substitution C T intron_variant MELA-AU 13 52259648 52259654 deletion of <=200bp CTATAGT - intron_variant MELA-AU 13 52260127 52260127 single base substitution C T intron_variant MELA-AU 13 52260347 52260347 single base substitution C T intron_variant MELA-AU 13 52261420 52261420 single base substitution C T intron_variant MELA-AU 13 52261786 52261786 single base substitution C T intron_variant MELA-AU 13 52262330 52262330 single base substitution C T intron_variant MELA-AU 13 52262644 52262644 deletion of <=200bp A - intron_variant MELA-AU 13 52262678 52262678 single base substitution T G intron_variant MELA-AU 13 52263463 52263463 single base substitution C T intron_variant MELA-AU 13 52264334 52264334 single base substitution T A intron_variant MELA-AU 13 52264437 52264437 single base substitution C T intron_variant MELA-AU 13 52265000 52265000 single base substitution C T intron_variant MELA-AU 13 52265266 52265266 single base substitution C T intron_variant MELA-AU 13 52265300 52265300 single base substitution G A intron_variant MELA-AU 13 52266294 52266294 single base substitution C T intron_variant MELA-AU 13 52267043 52267043 single base substitution C T intron_variant MELA-AU 13 52267085 52267085 single base substitution C T intron_variant MELA-AU 13 52267253 52267253 single base substitution C T intron_variant MELA-AU 13 52267329 52267329 single base substitution C T intron_variant MELA-AU 13 52268997 52268997 single base substitution C T intron_variant MELA-AU 13 52269043 52269043 single base substitution C T intron_variant MELA-AU 13 52269075 52269075 single base substitution C T intron_variant MELA-AU 13 52269196 52269196 single base substitution G A intron_variant MELA-AU 13 52269348 52269348 single base substitution C T intron_variant MELA-AU 13 52271438 52271438 single base substitution A T intron_variant MELA-AU 13 52271834 52271834 single base substitution C G intron_variant MELA-AU 13 52271959 52271959 single base substitution T C intron_variant MELA-AU 13 52272583 52272583 single base substitution C T intron_variant MELA-AU 13 52272933 52272933 single base substitution G T intron_variant MELA-AU 13 52273346 52273346 single base substitution G A intron_variant MELA-AU 13 52274681 52274681 single base substitution C T intron_variant MELA-AU 13 52274695 52274695 single base substitution G A intron_variant MELA-AU 13 52274771 52274771 single base substitution A G intron_variant MELA-AU 13 52275632 52275632 single base substitution G A intron_variant MELA-AU 13 52275805 52275805 single base substitution A T intron_variant MELA-AU 13 52276093 52276093 single base substitution C T intron_variant MELA-AU 13 52276571 52276571 single base substitution G C intron_variant MELA-AU 13 52276826 52276827 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 13 52278310 52278310 single base substitution C T intron_variant MELA-AU 13 52279588 52279588 insertion of <=200bp - T intron_variant MELA-AU 13 52279668 52279668 single base substitution C T intron_variant MELA-AU 13 52279887 52279887 single base substitution T A intron_variant MELA-AU 13 52280186 52280186 single base substitution C T intron_variant MELA-AU 13 52280694 52280694 single base substitution C T intron_variant MELA-AU 13 52280995 52280995 single base substitution T G intron_variant MELA-AU 13 52282068 52282068 single base substitution A G intron_variant MELA-AU 13 52282125 52282125 single base substitution C T intron_variant MELA-AU 13 52282172 52282173 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52283884 52283884 single base substitution C T intron_variant MELA-AU 13 52283981 52283981 single base substitution C T intron_variant MELA-AU 13 52284015 52284015 single base substitution C T intron_variant MELA-AU 13 52285086 52285119 deletion of <=200bp TATGGAACCAAAAAAGAGCCCGCATTGCCAAGAC - intron_variant MELA-AU 13 52285277 52285277 single base substitution C T intron_variant MELA-AU 13 52285394 52285394 single base substitution C T intron_variant MELA-AU 13 52285394 52285395 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52285657 52285657 single base substitution G A intron_variant MELA-AU 13 52285878 52285878 single base substitution T C intron_variant MELA-AU 13 52286465 52286465 single base substitution G A intron_variant MELA-AU 13 52286877 52286878 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 52287382 52287382 single base substitution C T intron_variant MELA-AU 13 52287661 52287661 single base substitution C T intron_variant MELA-AU 13 52289971 52289971 single base substitution C T intron_variant MELA-AU 13 52290123 52290123 single base substitution C T intron_variant MELA-AU 13 52291459 52291459 single base substitution A T intron_variant MELA-AU 13 52291736 52291736 single base substitution C T intron_variant MELA-AU 13 52292109 52292109 single base substitution G C intron_variant MELA-AU 13 52292238 52292238 single base substitution C G intron_variant MELA-AU 13 52292566 52292566 single base substitution T C intron_variant MELA-AU 13 52292577 52292577 single base substitution G A intron_variant MELA-AU 13 52293624 52293624 single base substitution C T intron_variant MELA-AU 13 52293766 52293766 single base substitution A G intron_variant MELA-AU 13 52294315 52294315 single base substitution C T intron_variant MELA-AU 13 52297091 52297091 single base substitution C T intron_variant MELA-AU 13 52297287 52297287 single base substitution C T intron_variant MELA-AU 13 52298484 52298484 single base substitution C T intron_variant MELA-AU 13 52299502 52299502 single base substitution C T intron_variant MELA-AU 13 52300247 52300247 single base substitution C T intron_variant MELA-AU 13 52300416 52300416 single base substitution C T intron_variant MELA-AU 13 52300569 52300569 single base substitution T A intron_variant MELA-AU 13 52300988 52300988 single base substitution G A intron_variant MELA-AU 13 52301457 52301458 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 52301975 52301975 single base substitution C T intron_variant MELA-AU 13 52302002 52302002 single base substitution T A intron_variant MELA-AU 13 52303081 52303081 single base substitution C T intron_variant MELA-AU 13 52303564 52303564 single base substitution C T intron_variant MELA-AU 13 52303678 52303678 single base substitution C T intron_variant MELA-AU 13 52304504 52304504 single base substitution C T intron_variant MELA-AU 13 52306150 52306150 single base substitution C T intron_variant MELA-AU 13 52307947 52307947 single base substitution G A intron_variant MELA-AU 13 52308232 52308232 single base substitution G A intron_variant MELA-AU 13 52309311 52309311 single base substitution C T intron_variant MELA-AU 13 52309311 52309311 single base substitution C T upstream_gene_variant MELA-AU 13 52311886 52311886 single base substitution C T intron_variant MELA-AU 13 52311886 52311886 single base substitution C T upstream_gene_variant MELA-AU 13 52312368 52312369 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 13 52312368 52312369 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 13 52312775 52312775 single base substitution C T intron_variant MELA-AU 13 52312775 52312775 single base substitution C T upstream_gene_variant MELA-AU 13 52312886 52312886 single base substitution C T intron_variant MELA-AU 13 52312886 52312886 single base substitution C T upstream_gene_variant MELA-AU 13 52313154 52313154 single base substitution G A intron_variant MELA-AU 13 52313154 52313154 single base substitution G A upstream_gene_variant MELA-AU 13 52313501 52313501 single base substitution C T intron_variant MELA-AU 13 52313729 52313729 single base substitution C T intron_variant MELA-AU 13 52314518 52314518 single base substitution C A intron_variant MELA-AU 13 52315520 52315520 single base substitution C T intron_variant MELA-AU 13 52315673 52315673 single base substitution C T intron_variant MELA-AU 13 52317281 52317281 single base substitution G A intron_variant MELA-AU 13 52317687 52317687 single base substitution C T intron_variant MELA-AU 13 52318186 52318186 single base substitution C T intron_variant MELA-AU 13 52319756 52319756 single base substitution C T intron_variant MELA-AU 13 52319848 52319848 single base substitution A G intron_variant MELA-AU 13 52320143 52320143 single base substitution C T intron_variant MELA-AU 13 52321427 52321427 single base substitution C T intron_variant MELA-AU 13 52321865 52321865 single base substitution C T intron_variant MELA-AU 13 52322459 52322459 single base substitution C T intron_variant MELA-AU 13 52323015 52323015 single base substitution C T intron_variant MELA-AU 13 52323570 52323570 single base substitution C T intron_variant MELA-AU 13 52323941 52323941 single base substitution C T intron_variant MELA-AU 13 52324744 52324744 single base substitution C T intron_variant MELA-AU 13 52326261 52326261 single base substitution C T intron_variant MELA-AU 13 52326921 52326921 single base substitution G A intron_variant MELA-AU 13 52327016 52327016 single base substitution C T exon_variant MELA-AU 13 52327016 52327016 single base substitution C T intron_variant MELA-AU 13 52327833 52327833 single base substitution C T downstream_gene_variant MELA-AU 13 52327833 52327833 single base substitution C T intron_variant MELA-AU 13 52328393 52328393 single base substitution C T downstream_gene_variant MELA-AU 13 52328393 52328393 single base substitution C T intron_variant MELA-AU 13 52328403 52328403 single base substitution G A downstream_gene_variant MELA-AU 13 52328403 52328403 single base substitution G A intron_variant MELA-AU 13 52328548 52328548 single base substitution T A downstream_gene_variant MELA-AU 13 52328548 52328548 single base substitution T A intron_variant MELA-AU 13 52328846 52328846 single base substitution C T downstream_gene_variant MELA-AU 13 52328846 52328846 single base substitution C T intron_variant MELA-AU 13 52329722 52329722 single base substitution C T downstream_gene_variant MELA-AU 13 52329722 52329722 single base substitution C T intron_variant MELA-AU 13 52329809 52329809 single base substitution A C downstream_gene_variant MELA-AU 13 52329809 52329809 single base substitution A C intron_variant MELA-AU 13 52329826 52329826 single base substitution A G downstream_gene_variant MELA-AU 13 52329826 52329826 single base substitution A G intron_variant MELA-AU 13 52330004 52330004 single base substitution C T downstream_gene_variant MELA-AU 13 52330004 52330004 single base substitution C T intron_variant MELA-AU 13 52330859 52330859 single base substitution C T downstream_gene_variant MELA-AU 13 52330859 52330859 single base substitution C T intron_variant MELA-AU 13 52331163 52331163 single base substitution C T downstream_gene_variant MELA-AU 13 52331163 52331163 single base substitution C T intron_variant MELA-AU 13 52331667 52331667 single base substitution G A downstream_gene_variant MELA-AU 13 52331667 52331667 single base substitution G A intron_variant MELA-AU 13 52331766 52331766 single base substitution C T downstream_gene_variant MELA-AU 13 52331766 52331766 single base substitution C T intron_variant MELA-AU 13 52332270 52332270 single base substitution C T intron_variant MELA-AU 13 52332320 52332320 single base substitution C T splice_region_variant MELA-AU 13 52332739 52332739 single base substitution C T intron_variant MELA-AU 13 52333588 52333588 single base substitution G A intron_variant MELA-AU 13 52333967 52333967 single base substitution C T 3_prime_UTR_variant MELA-AU 13 52334407 52334407 single base substitution C T 3_prime_UTR_variant MELA-AU 13 52335011 52335011 single base substitution C T 3_prime_UTR_variant MELA-AU 13 52335018 52335018 single base substitution T C 3_prime_UTR_variant MELA-AU 13 52335317 52335317 single base substitution T C 3_prime_UTR_variant MELA-AU 13 52335655 52335655 single base substitution C T 3_prime_UTR_variant MELA-AU 13 52336277 52336277 single base substitution C T downstream_gene_variant MELA-AU 13 52336556 52336556 single base substitution C T downstream_gene_variant MELA-AU 13 52336566 52336566 single base substitution G A downstream_gene_variant MELA-AU 13 52338659 52338660 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 13 52339433 52339433 single base substitution C T downstream_gene_variant MELA-AU 13 52340838 52340838 single base substitution T C downstream_gene_variant MELA-AU 13 52340841 52340841 single base substitution A T downstream_gene_variant ORCA-IN 13 52164060 52164060 single base substitution T G intron_variant ORCA-IN 13 52216416 52216420 deletion of <=200bp TTTTA - intron_variant ORCA-IN 13 52244624 52244625 multiple base substitution (>=2bp and <=200bp) TG CA intron_variant ORCA-IN 13 52244670 52244670 single base substitution C G intron_variant ORCA-IN 13 52271847 52271847 single base substitution C T intron_variant ORCA-IN 13 52282607 52282607 single base substitution C T intron_variant ORCA-IN 13 52315650 52315650 single base substitution G C intron_variant ORCA-IN 13 52331869 52331869 single base substitution C G downstream_gene_variant ORCA-IN 13 52331869 52331869 single base substitution C G intron_variant OV-AU 13 52154943 52154943 single base substitution C T upstream_gene_variant OV-AU 13 52156449 52156449 single base substitution A T upstream_gene_variant OV-AU 13 52158462 52158462 single base substitution C T upstream_gene_variant OV-AU 13 52163432 52163432 single base substitution C T intron_variant OV-AU 13 52172392 52172392 single base substitution G T intron_variant OV-AU 13 52186739 52186739 single base substitution C T intron_variant OV-AU 13 52191316 52191316 single base substitution C G intron_variant OV-AU 13 52191436 52191436 single base substitution C G intron_variant OV-AU 13 52195271 52195271 single base substitution A T intron_variant OV-AU 13 52203222 52203222 single base substitution C T intron_variant OV-AU 13 52207367 52207367 single base substitution T A intron_variant OV-AU 13 52214716 52214716 single base substitution G C intron_variant OV-AU 13 52214792 52214792 single base substitution C G intron_variant OV-AU 13 52218164 52218164 single base substitution T C intron_variant OV-AU 13 52218594 52218594 single base substitution A G intron_variant OV-AU 13 52226192 52226192 single base substitution T C intron_variant OV-AU 13 52228431 52228431 single base substitution C A intron_variant OV-AU 13 52241641 52241641 single base substitution T C intron_variant OV-AU 13 52242132 52242132 single base substitution G T intron_variant OV-AU 13 52253068 52253068 single base substitution C G intron_variant OV-AU 13 52263075 52263075 single base substitution T G intron_variant OV-AU 13 52271134 52271134 single base substitution G T intron_variant OV-AU 13 52276666 52276666 single base substitution G T intron_variant OV-AU 13 52278945 52278945 single base substitution A T intron_variant OV-AU 13 52285272 52285272 single base substitution A C intron_variant OV-AU 13 52291683 52291683 single base substitution C T intron_variant OV-AU 13 52294718 52294718 single base substitution G C intron_variant OV-AU 13 52299083 52299083 single base substitution C A intron_variant OV-AU 13 52301184 52301184 single base substitution T A intron_variant OV-AU 13 52310338 52310338 single base substitution G A intron_variant OV-AU 13 52310338 52310338 single base substitution G A upstream_gene_variant OV-AU 13 52314731 52314731 single base substitution T G intron_variant OV-AU 13 52317139 52317139 single base substitution A G intron_variant OV-AU 13 52317598 52317598 single base substitution C A intron_variant OV-AU 13 52336671 52336671 single base substitution A G downstream_gene_variant PACA-AU 13 52154405 52154405 single base substitution C T upstream_gene_variant PACA-AU 13 52163109 52163109 single base substitution C T intron_variant PACA-AU 13 52167552 52167552 single base substitution C A intron_variant PACA-AU 13 52176053 52176053 single base substitution C T intron_variant PACA-AU 13 52178912 52178913 deletion of <=200bp AG - intron_variant PACA-AU 13 52184391 52184391 deletion of <=200bp G - intron_variant PACA-AU 13 52196193 52196193 single base substitution C T intron_variant PACA-AU 13 52202141 52202141 single base substitution C T intron_variant PACA-AU 13 52207341 52207341 single base substitution C G intron_variant PACA-AU 13 52207786 52207786 deletion of <=200bp T - intron_variant PACA-AU 13 52225306 52225306 single base substitution C T intron_variant PACA-AU 13 52233043 52233043 single base substitution T C intron_variant PACA-AU 13 52244670 52244670 single base substitution C G intron_variant PACA-AU 13 52254761 52254761 single base substitution G T intron_variant PACA-AU 13 52256131 52256131 single base substitution G A intron_variant PACA-AU 13 52259770 52259770 single base substitution A G intron_variant PACA-AU 13 52263133 52263133 single base substitution G A intron_variant PACA-AU 13 52263359 52263359 deletion of <=200bp G - intron_variant PACA-AU 13 52271248 52271248 single base substitution C T intron_variant PACA-AU 13 52274464 52274464 single base substitution A G intron_variant PACA-AU 13 52276662 52276662 single base substitution A G intron_variant PACA-AU 13 52286614 52286614 single base substitution A G intron_variant PACA-AU 13 52292064 52292064 single base substitution C T intron_variant PACA-AU 13 52296333 52296333 single base substitution T G intron_variant PACA-AU 13 52298595 52298595 single base substitution G A intron_variant PACA-AU 13 52299976 52299976 single base substitution T C intron_variant PACA-AU 13 52301097 52301097 single base substitution C G intron_variant PACA-AU 13 52302801 52302801 single base substitution G T intron_variant PACA-AU 13 52304256 52304256 single base substitution A G intron_variant PACA-AU 13 52304387 52304387 single base substitution C T intron_variant PACA-AU 13 52309932 52309932 single base substitution G A intron_variant PACA-AU 13 52309932 52309932 single base substitution G A upstream_gene_variant PACA-AU 13 52311114 52311114 single base substitution G A intron_variant PACA-AU 13 52311114 52311114 single base substitution G A upstream_gene_variant PACA-AU 13 52318142 52318142 deletion of <=200bp G - intron_variant PACA-AU 13 52319756 52319756 single base substitution C T intron_variant PACA-AU 13 52322372 52322372 single base substitution G A intron_variant PACA-AU 13 52322762 52322762 single base substitution C T intron_variant PACA-AU 13 52323764 52323764 single base substitution A C intron_variant PACA-AU 13 52326929 52326929 single base substitution T C intron_variant PACA-AU 13 52329456 52329456 single base substitution C T downstream_gene_variant PACA-AU 13 52329456 52329456 single base substitution C T intron_variant PACA-AU 13 52332351 52332351 single base substitution A G missense_variant H363R 1088A>G PACA-CA 13 52154276 52154276 single base substitution C A upstream_gene_variant PACA-CA 13 52155163 52155163 single base substitution G T upstream_gene_variant PACA-CA 13 52156900 52156900 single base substitution C T upstream_gene_variant PACA-CA 13 52157906 52157906 single base substitution A G upstream_gene_variant PACA-CA 13 52158628 52158628 single base substitution G A upstream_gene_variant PACA-CA 13 52161191 52161191 single base substitution T C intron_variant PACA-CA 13 52162288 52162288 single base substitution T G intron_variant PACA-CA 13 52168785 52168798 deletion of <=200bp TCTCTCTGTCCAGG - intron_variant PACA-CA 13 52170066 52170066 single base substitution C T intron_variant PACA-CA 13 52175267 52175267 single base substitution C T intron_variant PACA-CA 13 52176516 52176516 single base substitution C T intron_variant PACA-CA 13 52178145 52178145 single base substitution A C intron_variant PACA-CA 13 52183737 52183737 insertion of <=200bp - C intron_variant PACA-CA 13 52184561 52184561 single base substitution T C intron_variant PACA-CA 13 52184978 52184978 single base substitution C A intron_variant PACA-CA 13 52185479 52185479 single base substitution G A intron_variant PACA-CA 13 52186004 52186004 single base substitution C T intron_variant PACA-CA 13 52191322 52191322 single base substitution A G intron_variant PACA-CA 13 52194172 52194172 single base substitution C G intron_variant PACA-CA 13 52197470 52197470 single base substitution G A intron_variant PACA-CA 13 52197991 52197991 single base substitution A T intron_variant PACA-CA 13 52200276 52200276 single base substitution A G intron_variant PACA-CA 13 52204530 52204530 single base substitution C T intron_variant PACA-CA 13 52212794 52212794 single base substitution G C intron_variant PACA-CA 13 52212990 52212990 single base substitution A G intron_variant PACA-CA 13 52215610 52215610 single base substitution C G intron_variant PACA-CA 13 52218880 52218880 single base substitution A G intron_variant PACA-CA 13 52219460 52219460 single base substitution C G intron_variant PACA-CA 13 52226058 52226058 single base substitution G A intron_variant PACA-CA 13 52227375 52227375 single base substitution G A intron_variant PACA-CA 13 52228044 52228044 single base substitution G A intron_variant PACA-CA 13 52230050 52230050 single base substitution T C intron_variant PACA-CA 13 52230733 52230733 single base substitution G A intron_variant PACA-CA 13 52241257 52241257 single base substitution T C intron_variant PACA-CA 13 52263652 52263652 single base substitution G T intron_variant PACA-CA 13 52264145 52264145 single base substitution G T intron_variant PACA-CA 13 52265275 52265275 single base substitution T A intron_variant PACA-CA 13 52270071 52270071 single base substitution C A intron_variant PACA-CA 13 52270472 52270472 single base substitution A T intron_variant PACA-CA 13 52272712 52272712 single base substitution C G intron_variant PACA-CA 13 52273530 52273530 single base substitution G C intron_variant PACA-CA 13 52273829 52273829 single base substitution A G intron_variant PACA-CA 13 52275300 52275300 single base substitution G A intron_variant PACA-CA 13 52279819 52279819 single base substitution G C intron_variant PACA-CA 13 52280589 52280589 single base substitution T C intron_variant PACA-CA 13 52285284 52285284 single base substitution A G intron_variant PACA-CA 13 52287746 52287746 single base substitution C T intron_variant PACA-CA 13 52288415 52288415 insertion of <=200bp - T intron_variant PACA-CA 13 52293681 52293681 single base substitution C A intron_variant PACA-CA 13 52297602 52297602 deletion of <=200bp T - intron_variant PACA-CA 13 52299924 52299924 single base substitution G T intron_variant PACA-CA 13 52300839 52300839 single base substitution C T intron_variant PACA-CA 13 52302969 52302969 single base substitution C T intron_variant PACA-CA 13 52306508 52306508 single base substitution G A intron_variant PACA-CA 13 52310583 52310583 single base substitution C T intron_variant PACA-CA 13 52310583 52310583 single base substitution C T upstream_gene_variant PACA-CA 13 52313733 52313733 single base substitution A G intron_variant PACA-CA 13 52320594 52320594 single base substitution T G intron_variant PACA-CA 13 52320666 52320666 single base substitution G A intron_variant PACA-CA 13 52327051 52327051 single base substitution G C exon_variant PACA-CA 13 52327051 52327051 single base substitution G C intron_variant PACA-CA 13 52327363 52327363 single base substitution C T downstream_gene_variant PACA-CA 13 52327363 52327363 single base substitution C T intron_variant PACA-CA 13 52327714 52327714 single base substitution C G downstream_gene_variant PACA-CA 13 52327714 52327714 single base substitution C G intron_variant PACA-CA 13 52328672 52328672 single base substitution C T downstream_gene_variant PACA-CA 13 52328672 52328672 single base substitution C T intron_variant PACA-CA 13 52330207 52330207 single base substitution C A downstream_gene_variant PACA-CA 13 52330207 52330207 single base substitution C A intron_variant PACA-CA 13 52336305 52336305 single base substitution G A downstream_gene_variant PACA-CA 13 52338907 52338907 single base substitution C A downstream_gene_variant PACA-CA 13 52340353 52340353 single base substitution G A downstream_gene_variant PAEN-AU 13 52169797 52169797 single base substitution T A intron_variant PAEN-IT 13 52205753 52205753 single base substitution C T intron_variant PAEN-IT 13 52205791 52205791 single base substitution A G intron_variant PAEN-IT 13 52221488 52221488 single base substitution C A intron_variant PAEN-IT 13 52238780 52238780 single base substitution C G intron_variant PBCA-DE 13 52164899 52164899 insertion of <=200bp - A intron_variant PBCA-DE 13 52166589 52166589 insertion of <=200bp - CCT intron_variant PBCA-DE 13 52172393 52172393 single base substitution G T intron_variant PBCA-DE 13 52178975 52178977 deletion of <=200bp TGA - intron_variant PBCA-DE 13 52182834 52182834 insertion of <=200bp - ATGCCCTG intron_variant PBCA-DE 13 52185562 52185562 single base substitution T C intron_variant PBCA-DE 13 52189489 52189489 insertion of <=200bp - A intron_variant PBCA-DE 13 52196785 52196788 deletion of <=200bp ATTT - intron_variant PBCA-DE 13 52208497 52208497 single base substitution G C intron_variant PBCA-DE 13 52218297 52218297 single base substitution C A intron_variant PBCA-DE 13 52229540 52229540 single base substitution G T intron_variant PBCA-DE 13 52229584 52229585 deletion of <=200bp GT - intron_variant PBCA-DE 13 52236092 52236092 insertion of <=200bp - T intron_variant PBCA-DE 13 52240848 52240849 deletion of <=200bp AC - intron_variant PBCA-DE 13 52270372 52270372 single base substitution G A intron_variant PBCA-DE 13 52274235 52274235 deletion of <=200bp A - intron_variant PBCA-DE 13 52274466 52274466 single base substitution T C intron_variant PBCA-DE 13 52307947 52307947 single base substitution G T intron_variant PBCA-DE 13 52323652 52323652 single base substitution G T intron_variant PRAD-CA 13 52157480 52157480 single base substitution C T upstream_gene_variant PRAD-CA 13 52172451 52172451 single base substitution C T intron_variant PRAD-CA 13 52240067 52240067 single base substitution C T intron_variant PRAD-CA 13 52244629 52244629 single base substitution A G intron_variant PRAD-CA 13 52276222 52276222 single base substitution C T intron_variant PRAD-CA 13 52278825 52278825 single base substitution C T intron_variant PRAD-UK 13 52175952 52175952 single base substitution T G intron_variant PRAD-UK 13 52185822 52185822 single base substitution C T intron_variant PRAD-UK 13 52203280 52203280 single base substitution C T intron_variant PRAD-UK 13 52204562 52204562 single base substitution A T intron_variant PRAD-UK 13 52210061 52210061 single base substitution T C intron_variant PRAD-UK 13 52218071 52218071 single base substitution A C intron_variant PRAD-UK 13 52231043 52231043 single base substitution G T intron_variant PRAD-UK 13 52246316 52246316 single base substitution G T intron_variant PRAD-UK 13 52252239 52252239 insertion of <=200bp - T intron_variant PRAD-UK 13 52290594 52290594 single base substitution C T intron_variant PRAD-UK 13 52333787 52333787 insertion of <=200bp - A intron_variant PRAD-UK 13 52338817 52338817 single base substitution T A downstream_gene_variant READ-US 13 52332385 52332385 single base substitution C T synonymous_variant F374F 1122C>T RECA-EU 13 52159674 52159674 single base substitution G C intron_variant RECA-EU 13 52162172 52162172 single base substitution T A intron_variant RECA-EU 13 52174245 52174245 single base substitution T A intron_variant RECA-EU 13 52185286 52185286 single base substitution T A intron_variant RECA-EU 13 52196202 52196202 single base substitution A G intron_variant RECA-EU 13 52199856 52199856 single base substitution C A intron_variant RECA-EU 13 52212491 52212491 single base substitution A G intron_variant RECA-EU 13 52215359 52215359 single base substitution C T intron_variant RECA-EU 13 52216264 52216264 single base substitution T C intron_variant RECA-EU 13 52220865 52220865 single base substitution A T intron_variant RECA-EU 13 52250009 52250009 single base substitution A T intron_variant RECA-EU 13 52258597 52258597 single base substitution C A intron_variant RECA-EU 13 52275255 52275255 single base substitution A T intron_variant RECA-EU 13 52278813 52278813 single base substitution C G intron_variant RECA-EU 13 52297385 52297385 single base substitution A T intron_variant RECA-EU 13 52297386 52297386 single base substitution C T intron_variant RECA-EU 13 52299642 52299642 single base substitution A T intron_variant RECA-EU 13 52311006 52311006 single base substitution A T intron_variant RECA-EU 13 52311006 52311006 single base substitution A T upstream_gene_variant RECA-EU 13 52335604 52335604 single base substitution C A 3_prime_UTR_variant SKCA-BR 13 52158593 52158593 single base substitution C T upstream_gene_variant SKCA-BR 13 52162633 52162633 single base substitution T C intron_variant SKCA-BR 13 52167096 52167096 single base substitution G A intron_variant SKCA-BR 13 52170939 52170939 single base substitution C T intron_variant SKCA-BR 13 52172681 52172681 single base substitution C T intron_variant SKCA-BR 13 52175498 52175498 single base substitution T C intron_variant SKCA-BR 13 52176421 52176421 single base substitution C T intron_variant SKCA-BR 13 52179994 52179994 single base substitution G A intron_variant SKCA-BR 13 52184390 52184391 deletion of <=200bp TG - intron_variant SKCA-BR 13 52187399 52187399 single base substitution C T intron_variant SKCA-BR 13 52187829 52187829 single base substitution C T intron_variant SKCA-BR 13 52192452 52192452 single base substitution C T intron_variant SKCA-BR 13 52193579 52193583 deletion of <=200bp AAAAC - intron_variant SKCA-BR 13 52197945 52197945 single base substitution C T intron_variant SKCA-BR 13 52200134 52200134 single base substitution C T intron_variant SKCA-BR 13 52201203 52201203 single base substitution C T intron_variant SKCA-BR 13 52203953 52203953 single base substitution C T intron_variant SKCA-BR 13 52206135 52206135 single base substitution C T intron_variant SKCA-BR 13 52210752 52210752 single base substitution G A intron_variant SKCA-BR 13 52223349 52223349 single base substitution C T intron_variant SKCA-BR 13 52224405 52224405 single base substitution C T intron_variant SKCA-BR 13 52225078 52225078 single base substitution G A intron_variant SKCA-BR 13 52226676 52226676 single base substitution T G intron_variant SKCA-BR 13 52231172 52231172 single base substitution C T intron_variant SKCA-BR 13 52232368 52232368 single base substitution C T intron_variant SKCA-BR 13 52232411 52232411 single base substitution C T intron_variant SKCA-BR 13 52233573 52233573 single base substitution C T intron_variant SKCA-BR 13 52236088 52236088 single base substitution C T intron_variant SKCA-BR 13 52238925 52238925 single base substitution C T intron_variant SKCA-BR 13 52239151 52239151 single base substitution G A intron_variant SKCA-BR 13 52241379 52241379 single base substitution T G intron_variant SKCA-BR 13 52241392 52241392 single base substitution G T intron_variant SKCA-BR 13 52244221 52244221 single base substitution C T intron_variant SKCA-BR 13 52244627 52244627 single base substitution A G intron_variant SKCA-BR 13 52246340 52246340 single base substitution C T intron_variant SKCA-BR 13 52247706 52247706 single base substitution C T intron_variant SKCA-BR 13 52252224 52252224 single base substitution C T intron_variant SKCA-BR 13 52254599 52254599 single base substitution G A intron_variant SKCA-BR 13 52255098 52255098 single base substitution C T intron_variant SKCA-BR 13 52255425 52255425 single base substitution T A intron_variant SKCA-BR 13 52255617 52255617 single base substitution A C intron_variant SKCA-BR 13 52256192 52256192 single base substitution C G intron_variant SKCA-BR 13 52256893 52256893 single base substitution C T intron_variant SKCA-BR 13 52260398 52260398 single base substitution C G intron_variant SKCA-BR 13 52269433 52269433 single base substitution C T intron_variant SKCA-BR 13 52270224 52270224 single base substitution C G intron_variant SKCA-BR 13 52273631 52273631 single base substitution C T intron_variant SKCA-BR 13 52284221 52284221 single base substitution C T intron_variant SKCA-BR 13 52290309 52290309 single base substitution G A intron_variant SKCA-BR 13 52293359 52293359 single base substitution C T synonymous_variant I120I 360C>T SKCA-BR 13 52293641 52293641 single base substitution T C intron_variant SKCA-BR 13 52295078 52295078 insertion of <=200bp - TTC intron_variant SKCA-BR 13 52295078 52295082 deletion of <=200bp TTCTC - intron_variant SKCA-BR 13 52296556 52296556 single base substitution T C intron_variant SKCA-BR 13 52298367 52298368 deletion of <=200bp CT - intron_variant SKCA-BR 13 52299339 52299339 single base substitution C T intron_variant SKCA-BR 13 52303124 52303124 single base substitution C T intron_variant SKCA-BR 13 52304061 52304061 single base substitution G C intron_variant SKCA-BR 13 52309262 52309262 single base substitution C T intron_variant SKCA-BR 13 52309262 52309262 single base substitution C T upstream_gene_variant SKCA-BR 13 52313800 52313800 single base substitution C T intron_variant SKCA-BR 13 52320103 52320103 single base substitution C T intron_variant SKCA-BR 13 52320115 52320115 single base substitution T C intron_variant SKCA-BR 13 52320119 52320119 single base substitution T C intron_variant SKCA-BR 13 52324673 52324673 insertion of <=200bp - CA intron_variant SKCA-BR 13 52325601 52325601 single base substitution C T intron_variant SKCA-BR 13 52338481 52338481 single base substitution A G downstream_gene_variant SKCA-BR 13 52339513 52339513 single base substitution G A downstream_gene_variant SKCM-US 13 52313270 52313270 single base substitution C T synonymous_variant I228I 684C>T SKCM-US 13 52313270 52313270 single base substitution C T upstream_gene_variant SKCM-US 13 52313275 52313275 single base substitution G A missense_variant G230E 689G>A SKCM-US 13 52313275 52313275 single base substitution G A upstream_gene_variant SKCM-US 13 52329528 52329528 single base substitution A C downstream_gene_variant SKCM-US 13 52329528 52329528 single base substitution A C missense_variant K289T 866A>C SKCM-US 13 52332429 52332429 single base substitution T G missense_variant V389G 1166T>G STAD-US 13 52277737 52277737 single base substitution T C synonymous_variant F95F 285T>C STAD-US 13 52325544 52325544 single base substitution G T exon_variant STAD-US 13 52325544 52325544 single base substitution G T missense_variant R275M 824G>T STAD-US 13 52330495 52330495 single base substitution G A downstream_gene_variant STAD-US 13 52330495 52330495 single base substitution G A missense_variant V321I 961G>A STAD-US 13 52332350 52332350 single base substitution C T missense_variant H363Y 1087C>T THCA-US 13 52301855 52301855 single base substitution C T missense_variant S176L 527C>T UCEC-US 13 52234739 52234739 single base substitution C T missense_variant R49C 145C>T UCEC-US 13 52234781 52234781 single base substitution G A missense_variant V63I 187G>A UCEC-US 13 52293459 52293459 single base substitution A G missense_variant T154A 460A>G UCEC-US 13 52301862 52301862 single base substitution A C missense_variant Q178H 534A>C UCEC-US 13 52313269 52313269 single base substitution T C missense_variant I228T 683T>C UCEC-US 13 52313269 52313269 single base substitution T C upstream_gene_variant UCEC-US 13 52325482 52325482 single base substitution G A exon_variant UCEC-US 13 52325482 52325482 single base substitution G A synonymous_variant T254T 762G>A UCEC-US 13 52325537 52325537 single base substitution G A exon_variant UCEC-US 13 52325537 52325537 single base substitution G A missense_variant V273M 817G>A UCEC-US 13 52330513 52330513 single base substitution T C downstream_gene_variant UCEC-US 13 52330513 52330513 single base substitution T C missense_variant S327P 979T>C UCEC-US 13 52332385 52332385 single base substitution C T synonymous_variant F374F 1122C>T UCEC-US 13 52332409 52332409 single base substitution G T synonymous_variant L382L 1146G>T UCEC-US 13 52333897 52333897 single base substitution G A missense_variant V399M 1195G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D7-A4YY-01 COSM4048016 c.285T>C p.F95F Substitution - coding silent 13:51703601-51703601 + TCGA-BP-4782-01 COSM469504 c.354G>C p.T118T Substitution - coding silent 13:51719217-51719217 + C135 COSM4617471 c.112G>A p.G38S Substitution - Missense 13:51584799-51584799 + TCGA-EE-A29D-06 COSM3469240 c.689G>A p.G230E Substitution - Missense 13:51739139-51739139 + TCGA-F5-6814-01 COSM947976 c.1122C>T p.F374F Substitution - coding silent 13:51758249-51758249 + SW1463 COSM1942986 c.842G>T p.W281L Substitution - Missense 13:51755368-51755368 + TCGA-A8-A095-01 COSM432484 c.838G>A p.E280K Substitution - Missense 13:51755364-51755364 + T3262 COSM4740808 c.517G>A p.G173S Substitution - Missense 13:51727709-51727709 + LC_S18 COSM1188718 c.810C>A p.N270K Substitution - Missense 13:51751394-51751394 + BRC11 COSM5027777 c.571C>T p.L191L Substitution - coding silent 13:51727763-51727763 + TCGA-AG-A02X-01 COSM290717 c.610G>A p.A204T Substitution - Missense 13:51739060-51739060 + 61 COSM5739960 c.122G>A p.S41N Substitution - Missense 13:51584809-51584809 + TCGA-EM-A3FQ-06 COSM3369100 c.527C>T p.S176L Substitution - Missense 13:51727719-51727719 + TCGA-A6-6653-01 COSM1367415 c.1078G>T p.A360S Substitution - Missense 13:51758205-51758205 + Pat_16_B COSM5842627 c.397G>A p.G133R Substitution - Missense 13:51719260-51719260 + TCGA-A6-5665-01 COSM5089816 c.831+9C>T p.? Unknown 13:51751424-51751424 + TCGA-B5-A11Y-01 COSM947968 c.187G>A p.V63I Substitution - Missense 13:51660645-51660645 + 8014573 COSM3384869 c.1088A>G p.H363R Substitution - Missense 13:51758215-51758215 + PTC-28C COSM4147733 c.888G>T p.W296C Substitution - Missense 13:51755414-51755414 + TCGA-A5-A0GH-01 COSM947975 c.979T>C p.S327P Substitution - Missense 13:51756377-51756377 + T2568 COSM4740809 c.1067G>A p.R356H Substitution - Missense 13:51758194-51758194 + C086 COSM947967 c.145C>T p.R49C Substitution - Missense 13:51660603-51660603 + TCGA-AX-A0J0-01 COSM947967 c.145C>T p.R49C Substitution - Missense 13:51660603-51660603 + ESO-051 COSM1270362 c.312G>A p.M104I Substitution - Missense 13:51703628-51703628 + Gp2D COSM4627209 c.132G>A p.E44E Substitution - coding silent 13:51584819-51584819 + TCGA-BS-A0UF-01 COSM947971 c.534A>C p.Q178H Substitution - Missense 13:51727726-51727726 + sysucc-1163T COSM432485 c.1066C>T p.R356C Substitution - Missense 13:51758193-51758193 + TCGA-BH-A18P-01 COSM432483 c.771G>A p.L257L Substitution - coding silent 13:51751355-51751355 + LUAD-B00915 COSM332632 c.394A>G p.T132A Substitution - Missense 13:51719257-51719257 + 587350 COSM1232514 c.634C>T p.R212W Substitution - Missense 13:51739084-51739084 + TCGA-AD-5900-01 COSM5128480 c.26C>A p.P9H Substitution - Missense 13:51584713-51584713 + BD175T COSM5507869 c.5C>T p.A2V Substitution - Missense 13:51584692-51584692 + TCGA-D9-A6EC-06 COSM4401006 c.866A>C p.K289T Substitution - Missense 13:51755392-51755392 + LAU50_2 COSM235567 c.156A>G p.L52L Substitution - coding silent 13:51660614-51660614 + TCGA-18-3409-01 COSM696433 c.776C>T p.S259F Substitution - Missense 13:51751360-51751360 + TCGA-EE-A2MJ-06 COSM3469239 c.684C>T p.I228I Substitution - coding silent 13:51739134-51739134 + TCGA-FS-A4F0-06 COSM3469241 c.1166T>G p.V389G Substitution - Missense 13:51758293-51758293 + TCGA-DD-A3A7-01 COSM4916177 c.544C>A p.L182I Substitution - Missense 13:51727736-51727736 + YUKIL COSM1706786 c.715C>T p.Q239* Substitution - Nonsense 13:51739165-51739165 + TCGA-AA-A010-01 COSM286491 c.1156A>G p.T386A Substitution - Missense 13:51758283-51758283 + TCGA-06-2569-01 COSM3399414 c.203C>G p.P68R Substitution - Missense 13:51660661-51660661 + Gp5D COSM1942988 c.938A>G p.H313R Substitution - Missense 13:51756336-51756336 + TCGA-CG-4440-01 COSM4048018 c.961G>A p.V321I Substitution - Missense 13:51756359-51756359 + HCT15 COSM1942979 c.565T>A p.C189S Substitution - Missense 13:51727757-51727757 + CH-60-T2 COSM5651283 c.975C>T p.C325C Substitution - coding silent 13:51756373-51756373 + CRC-06T COSM5456397 c.408G>T p.K136N Substitution - Missense 13:51719271-51719271 + LS513 COSM1942975 c.280G>T p.E94* Substitution - Nonsense 13:51703596-51703596 + TCGA-BS-A0UF-01 COSM947977 c.1146G>T p.L382L Substitution - coding silent 13:51758273-51758273 + 12-P4072 COSM4575973 c.1065A>G p.E355E Substitution - coding silent 13:51758192-51758192 + Patient_1 COSM5414095 c.425G>A p.C142Y Substitution - Missense 13:51719288-51719288 + LAU50_1 COSM235567 c.156A>G p.L52L Substitution - coding silent 13:51660614-51660614 + S02242 COSM5677126 c.574G>T p.V192F Substitution - Missense 13:51727766-51727766 + TCGA-HU-A4GQ-01 COSM4048017 c.824G>T p.R275M Substitution - Missense 13:51751408-51751408 + TCGA-BS-A0UV-01 COSM947976 c.1122C>T p.F374F Substitution - coding silent 13:51758249-51758249 + TCGA-CD-A4MJ-01 COSM4048019 c.1087C>T p.H363Y Substitution - Missense 13:51758214-51758214 + CSCC-15-T COSM4571577 c.494T>C p.V165A Substitution - Missense 13:51727686-51727686 + TCGA-AA-3841-01 COSM5112858 c.486-1G>C p.? Unknown 13:51727677-51727677 + TCGA-BS-A0UM-01 COSM947974 c.817G>A p.V273M Substitution - Missense 13:51751401-51751401 + Pat_59_B COSM5842628 c.824G>A p.R275K Substitution - Missense 13:51751408-51751408 + TCGA-BS-A0UF-01 COSM947970 c.460A>G p.T154A Substitution - Missense 13:51719323-51719323 + TCGA-A5-A0GW-01 COSM947973 c.762G>A p.T254T Substitution - coding silent 13:51751346-51751346 + DLD1 COSM4622845 c.1162A>G p.K388E Substitution - Missense 13:51758289-51758289 + TCGA-A5-A0GP-01 COSM947976 c.1122C>T p.F374F Substitution - coding silent 13:51758249-51758249 + BD49T COSM5498108 c.1026G>A p.R342R Substitution - coding silent 13:51756424-51756424 + T578 COSM3469239 c.684C>T p.I228I Substitution - coding silent 13:51739134-51739134 + 01-P1216 COSM4575972 c.502C>T p.R168W Substitution - Missense 13:51727694-51727694 + TCGA-B5-A0K0-01 COSM947969 c.336G>A p.A112A Substitution - coding silent 13:51719199-51719199 + TCGA-BH-A0B6-01 COSM3813979 c.28C>G p.L10V Substitution - Missense 13:51584715-51584715 + TCGA-29-1693-01 COSM1322847 c.986G>A p.R329H Substitution - Missense 13:51756384-51756384 + CHEWS001 COSM4575971 c.94A>C p.I32L Substitution - Missense 13:51584781-51584781 + TCGA-AG-3906-01 COSM5070100 c.985C>T p.R329C Substitution - Missense 13:51756383-51756383 + Gp2D COSM1942988 c.938A>G p.H313R Substitution - Missense 13:51756336-51756336 + RK308_C01 COSM3744029 c.725+10C>T p.? Unknown 13:51739185-51739185 + 07_16582 COSM1645121 c.628G>T p.V210F Substitution - Missense 13:51739078-51739078 + BD185T COSM5501127 c.832-6G>C p.? Unknown 13:51755352-51755352 + TCGA-UC-A7PF-01 COSM4829968 c.347G>C p.R116T Substitution - Missense 13:51719210-51719210 + WSU-HN30 COSM4600483 c.865A>G p.K289E Substitution - Missense 13:51755391-51755391 + TCGA-D1-A163-01 COSM947978 c.1195G>A p.V399M Substitution - Missense 13:51759761-51759761 + TCGA-AA-3510-01 COSM947976 c.1122C>T p.F374F Substitution - coding silent 13:51758249-51758249 + HCC2998 COSM1942967 c.23A>C p.K8T Substitution - Missense 13:51584710-51584710 + TCGA-B5-A11N-01 COSM947976 c.1122C>T p.F374F Substitution - coding silent 13:51758249-51758249 + HN_62860 COSM128478 c.672C>T p.I224I Substitution - coding silent 13:51739122-51739122 + CRC-25T COSM5453155 c.779G>A p.C260Y Substitution - Missense 13:51751363-51751363 + TCGA-B5-A11E-01 COSM947972 c.683T>C p.I228T Substitution - Missense 13:51739133-51739133 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.208546;Hs.208550 13q14.3 610418

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.934-27A>G 13 52330441 STAD A T Missense p.Q211L c.632A>T 13 52313218 HNSC A T Synonymous p.G150G c.450A>T 13 52293449 LUAD CC TT Missense p.P70L c.208_209delinsTT 13 52249308 CM C G IntronicSNV . c.137+3811C>G 13 52162771 CLL C G Missense p.P68R c.203C>G 13 52234797 GBM C T Synonymous p.F374F c.1122C>T 13 52332385 UCEC C T Synonymous p.I224I c.672C>T 13 52313258 HNSC C T Synonymous p.I228I c.684C>T 13 52313270 CM C T Synonymous p.L126L c.376C>T 13 52293375 CM C T Synonymous p.L191L c.571C>T 13 52301899 BRCA - CTT IntronicInsertion . c.485+1601_485+1603dupTCT 13 52295085 CLL G A IntronicSNV . c.137+31712G>A 13 52190672 CLL G A Missense p.A204T c.610G>A 13 52313196 COREAD G A Missense p.E280K c.838G>A 13 52329500 BRCA G A Missense p.M104I c.312G>A 13 52277764 ESCA G A Missense p.V273M c.817G>A 13 52325537 UCEC G A Missense p.V321I c.961G>A 13 52330495 STAD G A Missense p.V399M c.1195G>A 13 52333897 UCEC G A Missense p.V63I c.187G>A 13 52234781 UCEC G A Synonymous p.T254T c.762G>A 13 52325482 UCEC G C Synonymous p.T118T c.354G>C 13 52293353 RCCC G T Missense p.G22V c.65G>T 13 52158888 LUAD G T Missense p.W140C c.420G>T 13 52293419 LUAD T C IntronicSNV . c.206-5204T>C 13 52244102 CLL T C Missense p.S327P c.979T>C 13 52330513 UCEC