Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample CYP4Z1 199974 broad.mit.edu 37 1 47533298 47533298 + Missense_Mutation SNP T T C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr1:47533298T>C ENST00000334194.3 + 1 139 c.136T>C c.(136-138)Ttt>Ctt p.F46L NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 46 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CCTGCACCTGTTTCCTGCACC 0.498 31 43 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158655065 158655065 + Missense_Mutation SNP T T A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr1:158655065T>A ENST00000368147.4 - 2 277 c.97A>T c.(97-99)Act>Tct p.T33S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGATACCGAGTCAACACTTCC 0.478 40 81 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109106455 109106455 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:109106455C>T ENST00000309863.6 + 18 4928 c.4214C>T c.(4213-4215)gCg>gTg p.A1405V NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1405 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TCCAAAGAGGCGGAACTCCGG 0.398 10 20 --- --- --- --- DNER 92737 broad.mit.edu 37 2 230271991 230271991 + Missense_Mutation SNP G G T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:230271991G>T ENST00000341772.4 - 10 1814 c.1680C>A c.(1678-1680)agC>agA p.S560R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 560 EGF-like 9.|Follistatin-like. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.S560S(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCAGGCCGTCGCTGTCACAGG 0.512 6 121 --- --- --- --- NBEAL2 23218 broad.mit.edu 37 3 47038461 47038461 + Silent SNP C C A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:47038461C>A ENST00000450053.3 + 18 2753 c.2574C>A c.(2572-2574)atC>atA p.I858I NBEAL2_ENST00000292309.5_Silent_p.I858I|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 858 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) AGAACAACATCTGCCTGGACC 0.622 8 27 --- --- --- --- PARP9 83666 broad.mit.edu 37 3 122274491 122274491 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:122274491C>T ENST00000462315.1 - 4 820 c.527G>A c.(526-528)gGa>gAa p.G176E PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000492382.1_Intron NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 211 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CTGCAGCTTTCCAGTACATCC 0.463 7 35 --- --- --- --- RGMB 285704 broad.mit.edu 37 5 98115306 98115306 + Missense_Mutation SNP A A C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr5:98115306A>C ENST00000308234.7 + 4 684 c.282A>C c.(280-282)caA>caC p.Q94H RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 53 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) AGCCAGCCCAATGTCGAATCC 0.468 88 108 --- --- --- --- PCDHGB7 56099 broad.mit.edu 37 5 140799248 140799248 + Missense_Mutation SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr5:140799248G>A ENST00000398594.2 + 1 1822 c.1822G>A c.(1822-1824)Gtg>Atg p.V608M PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCCTACCACGTGGTGCAGGC 0.687 4 105 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336228 141336228 + Missense_Mutation SNP G G C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr5:141336228G>C ENST00000231484.3 - 1 2399 c.1189C>G c.(1189-1191)Ctg>Gtg p.L397V NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 397 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTGGCCCAGCTCTTGGCTC 0.488 5 96 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30701886 30701886 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr8:30701886C>T ENST00000256246.2 - 1 4722 c.4648G>A c.(4648-4650)Gac>Aac p.D1550N NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1550 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GACTGCGAGTCTTTACTAACT 0.388 38 70 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52596043 52596043 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr10:52596043C>T ENST00000374001.2 - 5 534 c.395G>A c.(394-396)aGt>aAt p.S132N A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GTTGTCCACACTGGCACAAAC 0.433 31 39 --- --- --- --- CCDC70 83446 broad.mit.edu 37 13 52439722 52439722 + Missense_Mutation SNP T T C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr13:52439722T>C ENST00000242819.4 + 2 504 c.208T>C c.(208-210)Tgg>Cgg p.W70R NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 70 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GGAAGAGATGTGGACTTTCCG 0.468 32 52 --- --- --- --- STK24 8428 broad.mit.edu 37 13 99127163 99127163 + Missense_Mutation SNP G G T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr13:99127163G>T ENST00000397517.2 - 5 585 c.509C>A c.(508-510)aCa>aAa p.T170K STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 182 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTGGGTGTCTGTCAGCTGGCC 0.612 13 33 --- --- --- --- CTSG 1511 broad.mit.edu 37 14 25043658 25043658 + Silent SNP C C A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr14:25043658C>A ENST00000216336.2 - 4 423 c.387G>T c.(385-387)ctG>ctT p.L129L NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 129 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GGGCTCTAGGCAGAGCCACTG 0.627 21 107 --- --- --- --- SCG3 29106 broad.mit.edu 37 15 51975311 51975311 + Silent SNP A A G TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr15:51975311A>G ENST00000220478.3 + 3 574 c.171A>G c.(169-171)acA>acG p.T57T SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 57 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) TTAAAAAAACATATCCTCCAG 0.343 39 42 --- --- --- --- SULT4A1 25830 broad.mit.edu 37 22 44234801 44234801 + Missense_Mutation SNP T T A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr22:44234801T>A ENST00000330884.4 - 4 574 c.454A>T c.(454-456)Atg>Ttg p.M152L SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L|SULT4A1_ENST00000540422.1_Intron NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 152 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) CGGTAGCTCATGGTCCGCAGA 0.532 25 48 --- --- --- --- DOCK11 139818 broad.mit.edu 37 X 117775256 117775256 + Silent SNP T T C rs137900857 TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chrX:117775256T>C ENST00000276204.6 + 39 4322 c.4248T>C c.(4246-4248)acT>acC p.T1416T DOCK11_ENST00000276202.7_Silent_p.T1416T Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1416 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CATTTTTCACTCAGTGCTTCA 0.383 18 22 --- --- --- ---