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 KCNH8 131096 broad.mit.edu 37 3 19492678 19492678 + Missense_Mutation SNP C C G TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr3:19492678C>G ENST00000328405.2 + 10 1873 c.1607C>G c.(1606-1608)tCt>tGt p.S536C KCNH8_ENST00000537696.1_3'UTR NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 536 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GAACTGCGTTCTGACATCACT 0.438 7 152 --- --- --- --- PRDM9 56979 broad.mit.edu 37 5 23526964 23526964 + Silent SNP T T C TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr5:23526964T>C ENST00000296682.3 + 11 1949 c.1767T>C c.(1765-1767)ttT>ttC p.F589F NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 589 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGCGGGGCTTTAGCTGGCAGT 0.602 HNSCC(3;0.000094) 4 93 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 89938713 89938713 + Missense_Mutation SNP G G A TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr5:89938713G>A ENST00000405460.2 + 13 2504 c.2408G>A c.(2407-2409)gGg>gAg p.G803E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 803 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CGATCAAGGGGGTCCCTTGTT 0.408 5 99 --- --- --- --- HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 7 68 --- --- --- --- FAM134C 162427 broad.mit.edu 37 17 40734812 40734812 + Missense_Mutation SNP T T C TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr17:40734812T>C ENST00000309428.5 - 8 882 c.823A>G c.(823-825)Act>Gct p.T275A FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 275 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) CTGGCAACAGTAGAATCGTCC 0.468 8 123 --- --- --- --- SLC16A3 9123 broad.mit.edu 37 17 80194039 80194039 + Missense_Mutation SNP A A G TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr17:80194039A>G ENST00000581287.1 + 1 2477 c.155A>G c.(154-156)gAg>gGg p.E52G SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 52 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) CTCATACAGGAGTTTGGGATC 0.622 4 108 --- --- --- --- MAST1 22983 broad.mit.edu 37 19 12977541 12977541 + Missense_Mutation SNP C C T TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr19:12977541C>T ENST00000251472.4 + 18 2143 c.2104C>T c.(2104-2106)Cgc>Tgc p.R702C NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 702 AGC-kinase C-terminal. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGTGGAAATCCGCCAGTTCTC 0.622 4 33 --- --- --- --- CACNG7 59284 broad.mit.edu 37 19 54444804 54444804 + Missense_Mutation SNP C C A TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr19:54444804C>A ENST00000391767.1 + 5 717 c.505C>A c.(505-507)Cag>Aag p.Q169K CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 169 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CAGCTCTGAGCAGTATTTTCA 0.547 7 103 --- --- --- --- UBASH3A 53347 broad.mit.edu 37 21 43838616 43838616 + Missense_Mutation SNP A A T TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr21:43838616A>T ENST00000319294.6 + 7 975 c.944A>T c.(943-945)gAg>gTg p.E315V UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 315 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GAAGCCAGCGAGGGCTGGGTG 0.592 7 86 --- --- --- --- BCL6 604 broad.mit.edu 37 3 187446240 187446240 + Frame_Shift_Del DEL G G - TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr3:187446240delG ENST00000406870.2 - 6 1814 c.1448delC c.(1447-1449)ccafs p.P483fs BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 483 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGCATGCTGTGGGGACTGAGA 0.617 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 2 4 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43173002 43173002 + Splice_Site DEL T T - TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr6:43173002delT ENST00000252050.4 + 24 4718 c.4634delT c.(4633-4635)atg>ag p.M1545fs CUL9_ENST00000372647.2_Splice_Site_p.M1545fs|CUL9_ENST00000354495.3_Splice_Site_p.M1435fs NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1545 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TGCCCCCAGATGAGTGAGCAG 0.572 16 238 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23906843 23906852 + Frame_Shift_Del DEL AAGGTCACTA AAGGTCACTA - TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eafb824c-0e84-48ec-886f-8c499ac06f94 0fe4914b-4eed-4620-bd08-4a854ee94df6 g.chr13:23906843_23906852delAAGGTCACTA ENST00000382298.3 - 10 11751_11760 c.11163_11172delTAGTGACCTT c.(11161-11172)ggtagtgaccttfs p.GSDL3721fs SACS_ENST00000382292.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3721 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTTGTGGACCAAGGTCACTACCTTCTTGTT 0.386 7 94 --- --- --- ---