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 pox qox pox_cutoff isArtifactMode oxoGCut FCRL6 343413 broad.mit.edu 37 1 159778167 159778167 + Silent SNP T T C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr1:159778167T>C ENST00000321935.6 + 4 359 c.273T>C c.(271-273)tcT>tcC p.S91S FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000368106.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S Q6DN72 FCRL6_HUMAN Fc receptor-like 6 84 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) ACAGCTGCTCTGGGCAGGTGA 0.498000 9 34 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665168 157665168 + Missense_Mutation SNP G G T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr1:157665168G>T ENST00000368184.3 - 8 1653 c.1362C>A c.(1360-1362)gaC>gaA p.D454E FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 454 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CCAGGCCATTGTCTGCATCAC 0.532000 5 84 0.184627 0.184627 1 1 0 FANCM 57697 broad.mit.edu 37 14 45650703 45650703 + Silent SNP A A G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr14:45650703A>G ENST00000267430.5 + 15 4378 c.4293A>G c.(4291-4293)aaA>aaG p.K1431K FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Silent_p.K1405K NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1431 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AAAGAGCAAAAGGAAATGTTT 0.308000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 40 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 45 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125359671 125359671 + Translation_Start_Site SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr11:125359671C>T ENST00000278919.3 - 2 237 c.3G>A c.(1-3)atG>atA p.M1I FEZ1_ENST00000366139.3_Start_Codon_SNP_p.M1I|FEZ1_ENST00000524435.1_Start_Codon_SNP_p.M1I NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 1 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) GTGGGGCCTCCATTCTTGCTC 0.478000 10 21 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129759353 129759353 + Missense_Mutation SNP C C G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chrX:129759353C>G ENST00000338144.3 - 16 2185 c.1768G>C c.(1768-1770)Gga>Cga p.G590R ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370935.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370927.1_Missense_Mutation_p.G590R NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 590 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GCTCCAACTCCAGTCATTTCC 0.483000 4 65 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 56 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23299928 23299928 + RNA SNP C C T rs142794095 by1000genomes TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr15:23299928C>T ENST00000560464.1 - 0 4359 GCAAGCCGGACGCATTCCCGG 0.572000 3 7 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688981 55688981 + Silent SNP G G C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr12:55688981G>C ENST00000358433.2 - 1 35 c.36C>G c.(34-36)ctC>ctG p.L12L NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCAATCCTAGGAGAATGAACT 0.333000 6 29 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156421292 156421292 + Missense_Mutation SNP G G A TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr3:156421292G>A ENST00000461166.1 + 5 1915 c.1327G>A c.(1327-1329)Gtc>Atc p.V443I TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 443 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CCCAGATGGGGTCACTTCAGC 0.448000 3 39 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109315808 109315808 + Missense_Mutation SNP C C G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr6:109315808C>G ENST00000436639.2 - 6 1722 c.977G>C c.(976-978)aGt>aCt p.S326T SESN1_ENST00000356644.7_Missense_Mutation_p.S267T|SESN1_ENST00000302071.2_Missense_Mutation_p.S201T NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 267 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) GAAAGAATCACTTACCTGAAG 0.343000 4 22 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66479502 66479502 + Missense_Mutation SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr7:66479502C>T ENST00000359626.5 + 5 688 c.524C>T c.(523-525)gCg>gTg p.A175V NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 175 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ATGAGATATGCGGTATTTGGC 0.423000 4 144 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54559863 54559863 + Silent SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr17:54559863C>T ENST00000566473.2 + 17 2247 c.2247C>T c.(2245-2247)ctC>ctT p.L749L ANKFN1_ENST00000318698.2_Silent_p.L749L Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 749 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TTCTTAACCTCCCTCTTCAGA 0.438000 21 60 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44248901 44248901 + Silent SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr17:44248901C>T ENST00000262419.6 - 2 1079 c.609G>A c.(607-609)ggG>ggA p.G203G KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G203G|KANSL1_ENST00000574590.1_Silent_p.G203G|KANSL1_ENST00000572904.1_Silent_p.G203G|KANSL1_ENST00000432791.1_Silent_p.G203G NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 203 MLL1 complex protein binding TGGTCATACCCCCCTTCAAGT 0.453000 22 80 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50483807 50483807 + Missense_Mutation SNP G G A TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr22:50483807G>A ENST00000266182.6 - 6 519 c.520C>T c.(520-522)Cgc>Tgc p.R174C TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GCCATGGTGCGCCGGAAGTCT 0.657000 3 25 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 9 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49418672 49418672 + Missense_Mutation SNP A A C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr12:49418672A>C ENST00000301067.7 - 49 15841 c.15842T>G c.(15841-15843)cTg>cGg p.L5281R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GAAGAGTCGCAGCATGTCAGC 0.557000 3 12 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 30 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64594255 64594255 + Frame_Shift_Del DEL C C - TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr11:64594255delC ENST00000342711.5 - 35 4400 c.4401delG c.(4399-4401)gafs p.E1467fs NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1467 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CTCGGCCCTTCTCTTCGGGAG 0.672 2 4 --- --- --- ---