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 FUT8 2530 broad.mit.edu 37 14 66096323 66096323 + Splice_Site SNP A A T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr14:66096323A>T ENST00000360689.5 + 6 2323 c.597_splice c.e6+1 p.Q199_splice FUT8_ENST00000557164.1_Splice_Site_p.Q36_splice|FUT8_ENST00000394586.2_Splice_Site_p.Q199_splice|FUT8_ENST00000358307.2_Splice_Site_p.Q70_splice|FUT8_ENST00000394585.1_Splice_Site_p.Q199_splice NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 199 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ACATATCTTCAGGTAAGAAGG 0.383000 16 30 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87645034 87645034 + Silent SNP A A G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr8:87645034A>G ENST00000320005.5 - 11 1313 c.1266T>C c.(1264-1266)ttT>ttC p.F422F NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 422 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCAAGAGTTGAAAAACAATTT 0.353000 24 20 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021463 132021463 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:132021463C>T ENST00000356920.5 + 15 2529 c.2435C>T c.(2434-2436)cCc>cTc p.P812L POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 812 Actin-like. ATP binding CCCCTGAACCCCAAGGCCAAC 0.602000 24 97 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335371 42335371 + Missense_Mutation SNP G G T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr17:42335371G>T ENST00000262418.6 - 11 1420 c.1265C>A c.(1264-1266)aCc>aAc p.T422N AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 422 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCCGCCGAAGGTGATGGCGGG 0.572000 29 27 1.56442e-22 1.74847e-22 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993967 140993967 + Silent SNP T T A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:140993967T>A ENST00000285879.4 + 4 1063 c.777T>A c.(775-777)acT>acA p.T259T MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 259 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCAGAGTACTTTTGAGGGTT 0.502000 HNSCC(15;0.026) 75 24 0 0 1 0 0 DMPK 1760 broad.mit.edu 37 19 46274858 46274858 + Missense_Mutation SNP C C A rs145245565 TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr19:46274858C>A ENST00000600757.1 - 11 2270 c.1583G>T c.(1582-1584)cGg>cTg p.R528L DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L|DMPK_ENST00000291270.4_Missense_Mutation_p.R523L|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586498.1_RNA Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 533 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) CAACTCCATCCGCTCCTGCAA 0.677000 7 21 2.0095e-06 2.12114e-06 1 1 0 GGT5 2687 broad.mit.edu 37 22 24621346 24621346 + Missense_Mutation SNP C C A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr22:24621346C>A ENST00000327365.4 - 10 1786 c.1370G>T c.(1369-1371)aGg>aTg p.R457M GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000398292.3_Missense_Mutation_p.R458M|GGT5_ENST00000418439.2_Missense_Mutation_p.R381M NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 457 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GGGCCAGCACCTTCCGGGAGC 0.617000 36 47 3.76114e-14 4.1427e-14 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186014932 186014932 + Silent SNP A A G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr1:186014932A>G ENST00000271588.4 + 41 6646 c.6417A>G c.(6415-6417)aaA>aaG p.K2139K HMCN1_ENST00000367492.2_Silent_p.K2139K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2139 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTTGGTTAAAAGACGGCCACC 0.393000 4 52 0 0 1 0 0 KLHDC3 116138 broad.mit.edu 37 6 42985952 42985952 + Missense_Mutation SNP A A G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:42985952A>G ENST00000326974.4 + 5 712 c.517A>G c.(517-519)Aag>Gag p.K173E KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 173 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TATCTGTACAAAGGTCTGCTC 0.448000 18 104 0 0 1 0 0 NYX 60506 broad.mit.edu 37 X 41333727 41333727 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:41333727G>A ENST00000342595.2 + 2 1477 c.1021G>A c.(1021-1023)Gac>Aac p.D341N NYX_ENST00000378220.1_Missense_Mutation_p.D341N NM_022567.2 NP_072089.1 Q9GZU5 NYX_HUMAN nyctalopin 341 LRRCT. response to stimulus|visual perception intracellular|proteinaceous extracellular matrix NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1) 17 GTGGTGCTGCGACTGCCGTCT 0.706000 10 17 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23410783 23410783 + Missense_Mutation SNP T T C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:23410783T>C ENST00000379361.4 + 3 2008 c.1148T>C c.(1147-1149)cTg>cCg p.L383P NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 383 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GCCATGTACCTGGTCACCTTT 0.473000 28 51 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109290 21109290 + Silent SNP C C A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr14:21109290C>A ENST00000320704.3 - 1 560 c.561G>T c.(559-561)ctG>ctT p.L187L NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CCAGGCGGAGCAGTGGGCCAC 0.567000 21 28 3.62473e-10 3.93542e-10 1 1 0 TP53 7157 broad.mit.edu 37 17 7578460 7578460 + Missense_Mutation SNP A A T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr17:7578460A>T ENST00000420246.2 - 5 602 c.470T>A c.(469-471)gTc>gAc p.V157D TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000269305.4_Missense_Mutation_p.V157D|TP53_ENST00000359597.4_Missense_Mutation_p.V157D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 157 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGGCGCGGACGCGGGTGCC 0.617000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 49 11 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125597328 125597328 + Splice_Site SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr8:125597328C>T ENST00000518547.1 - 6 933 c.460_splice c.e6+1 p.G154_splice MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.V154_splice|MTSS1_ENST00000378017.3_Splice_Site_p.G154_splice NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 154 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TAGGAGTTACCTTTTTTTGCT 0.373000 52 90 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070591 32070591 + RNA SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr16:32070591G>A ENST00000566806.1 - 0 499 GAAGCCTGGGGCCTCAGTGAA 0.597000 14 27 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803480 142803480 + RNA SNP T T C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr1:142803480T>C ENST00000423385.1 - 0 1485 GATTTTAATATTCTGTACATT 0.343000 3 55 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748762 126748762 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr3:126748762G>A ENST00000251772.4 + 27 4916 c.4847G>A c.(4846-4848)cGc>cAc p.R1616H PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1639H Q9UIW2 PLXA1_HUMAN plexin A1 1639 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTGCGCTCGCGCACGCCCATG 0.716000 3 44 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224013 248224013 + Silent SNP T T C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr1:248224013T>C ENST00000359959.3 + 1 30 c.30T>C c.(28-30)gaT>gaC p.D10D OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CATCAACTGATTTCATCTTAT 0.388000 16 204 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3101424 3101424 + Silent SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr17:3101424C>T ENST00000381951.1 + 1 612 c.612C>T c.(610-612)ggC>ggT p.G204G NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TAGGGGTCGGCGTTTTCTCTT 0.428000 154 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179590358 179590358 + Missense_Mutation SNP G G C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:179590358G>C ENST00000589042.1 - 71 20797 c.20573C>G c.(20572-20574)tCc>tGc p.S6858C TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6541C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6541 Ig-like 50. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTCAGTTTGGAGACAAATCT 0.433000 18 35 0 0 1 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27782965 27782965 + Missense_Mutation SNP G G C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:27782965G>C ENST00000359465.4 + 1 144 c.144G>C c.(142-144)caG>caC p.Q48H NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 48 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 TGCTGAAGCAGGTCCACCCCG 0.537000 18 147 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117282521 117282521 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr11:117282521C>T ENST00000278935.3 + 32 4321 c.4174C>T c.(4174-4176)Cgg>Tgg p.R1392W CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1392 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TGAGCAGCTCCGGCTCCTACA 0.597000 7 133 0 0 1 0 0 DENND6A 201627 broad.mit.edu 37 3 57678580 57678580 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr3:57678580C>T ENST00000311128.5 - 1 236 c.166G>A c.(166-168)Gac>Aac p.D56N NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A GAGAAGCTGTCCCAGCGCAGC 0.746000 4 8 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 10 81 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 4 114 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961277 51961277 + Missense_Mutation SNP T T C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr19:51961277T>C ENST00000321424.3 - 1 431 c.365A>G c.(364-366)tAt>tGt p.Y122C SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 122 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCGAAAGAAATATGACCCCTT 0.498000 55 27 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896315 151896315 + RNA SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:151896315C>T ENST00000361201.4 - 0 415 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 ACTTCCTTGACGGGTCCCTGT 0.537000 38 46 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10352347 10352347 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr17:10352347C>T ENST00000255381.2 - 31 4309 c.4199G>A c.(4198-4200)cGt>cAt p.R1400H CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1400 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ATCCTGCAGACGCTGGGCTAG 0.463000 8 16 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958524 53958524 + RNA SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr19:53958524C>T ENST00000454407.1 + 0 1216 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TAATCAGAAGCGAAACCTAGC 0.408000 50 31 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969527 240969527 + Missense_Mutation SNP A A G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:240969527A>G ENST00000402971.2 - 1 379 c.320T>C c.(319-321)cTg>cCg p.L107P NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGTGCACACCAGGGAGCTGAA 0.617000 11 17 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 24 36 0 0 1 0 0 ABHD13 84945 broad.mit.edu 37 13 108882243 108882243 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr13:108882243C>T ENST00000375898.3 + 2 978 c.677C>T c.(676-678)gCc>gTc p.A226V NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 226 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CCACATATGGCCAGCACTTTA 0.383000 17 112 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890587 55890587 + Nonsense_Mutation SNP G G T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr11:55890587G>T ENST00000313472.3 + 1 739 c.739G>T c.(739-741)Gga>Tga p.G247* NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TCATCTCTTGGGAGTCACCAT 0.383000 29 38 7.41945e-09 7.94195e-09 1 1 0 OR4K2 390431 broad.mit.edu 37 14 20345046 20345046 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr14:20345046C>T ENST00000298642.2 + 1 656 c.620C>T c.(619-621)gCg>gTg p.A207V NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A207V(1)|p.A207E(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCATAATTGCGTTGTCCTGT 0.398000 18 202 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109773620 109773620 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr1:109773620G>A ENST00000369923.4 + 5 579 c.568G>A c.(568-570)Ggg>Agg p.G190R SARS_ENST00000234677.2_Missense_Mutation_p.G190R P49591 SYSC_HUMAN seryl-tRNA synthetase 190 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) CGTGGTGGCTGGGAGTCGAGG 0.418000 36 33 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31294434 31294434 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr15:31294434G>A ENST00000542188.1 - 27 4833 c.4520C>T c.(4519-4521)aCg>aTg p.T1507M TRPM1_ENST00000256552.6_Missense_Mutation_p.T1490M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1468 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTGCCATTCCGTCGTCAATTG 0.488000 13 136 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17653073 17653073 + Silent SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr19:17653073C>T ENST00000335393.4 + 11 1530 c.1392C>T c.(1390-1392)ctC>ctT p.L464L FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000352727.3_Silent_p.L464L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000449408.2_Silent_p.L190L NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 464 p.L464L(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 TGCAGAGCCTCGTGTTTGGGG 0.627000 64 82 0 0 1 0 0 HSH2D 84941 broad.mit.edu 37 19 16268157 16268157 + Nonsense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr19:16268157G>A ENST00000593154.2 + 8 1143 c.612G>A c.(610-612)tgG>tgA p.W204* HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*|HSH2D_ENST00000253680.6_Nonsense_Mutation_p.W204*|HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115* NM_032855.2 NP_116244.1 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 204 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 AGAAACTCTGGAGGAGCCTCA 0.562000 16 32 0 0 1 0 0 ADSL 158 broad.mit.edu 37 22 40761013 40761013 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr22:40761013G>A ENST00000216194.7 + 12 1377 c.1321G>A c.(1321-1323)Gat>Aat p.D441N ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.D455N NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 441 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 CTCCCAGTTGGATCATTTACT 0.517000 5 83 0 0 1 0 0 LAGE3 8270 broad.mit.edu 37 X 153707094 153707094 + Missense_Mutation SNP C C A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:153707094C>A ENST00000357360.4 - 1 502 c.161G>T c.(160-162)aGg>aTg p.R54M LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M NM_006014.3 NP_006005.2 Q14657 LAGE3_HUMAN L antigen family, member 3 54 protein binding lung(2) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCGTGACCCCCTGGCCGCAGA 0.721000 3 12 0.115264 0.116801 1 1 0 KRT15 3866 broad.mit.edu 37 17 39673193 39673193 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr17:39673193C>T ENST00000254043.3 - 3 4190 c.605G>A c.(604-606)cGc>cAc p.R202H KRT15_ENST00000393974.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H|KRT15_ENST00000393981.3_Missense_Mutation_p.R37H NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 202 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) AACGCCCTGGCGCAGGGCCAG 0.602000 6 58 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7669667 7669667 + Missense_Mutation SNP T T C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr11:7669667T>C ENST00000299492.4 + 18 2084 c.1696T>C c.(1696-1698)Tgg>Cgg p.W566R PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 566 SAM 1. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TGTGTGTGCATGGCTGGAGGA 0.547000 4 64 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24466846 24466846 + Silent SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr22:24466846G>A ENST00000398319.2 + 17 2713 c.2328G>A c.(2326-2328)gaG>gaA p.E776E CABIN1_ENST00000263119.5_Silent_p.E776E|CABIN1_ENST00000405822.2_Silent_p.E726E NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 776 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACTCAGGTGAGGCTGCCGCCA 0.582000 3 31 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109675033 109675033 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr12:109675033C>T ENST00000338432.7 + 34 4629 c.4510C>T c.(4510-4512)Cgg>Tgg p.R1504W ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1504 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGAACTTAACCGGATGCGTAA 0.542000 31 62 0 0 1 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124846 26124846 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:26124846G>A ENST00000602637.1 + 1 416 c.386G>A c.(385-387)gGc>gAc p.G129D HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D Q93077 H2A1C_HUMAN histone cluster 1, H2ac 129 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 AAGGCCAAGGGCAAGTGATTT 0.542000 17 38 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206628528 206628528 + Silent SNP C C G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:206628528C>G ENST00000360409.3 + 13 2966 c.2175C>G c.(2173-2175)ggC>ggG p.G725G NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000357118.4_Silent_p.G725G|NRP2_ENST00000272849.3_Silent_p.G725G|NRP2_ENST00000540841.1_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000357785.5_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 725 MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCACGGGCGGCCGCGGGGTGG 0.692000 OREG0015155 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 58 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955415 102955415 + Missense_Mutation SNP G G C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:102955415G>C ENST00000311734.2 + 3 519 c.180G>C c.(178-180)caG>caC p.Q60H IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H|IL1RL1_ENST00000404917.2_Intron Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 60 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TTCCCACTCAGGAAAGAAATC 0.393000 50 118 0 0 1 0 0 PELI3 246330 broad.mit.edu 37 11 66243323 66243323 + Silent SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr11:66243323C>T ENST00000349459.6 + 7 1307 c.1023C>T c.(1021-1023)gtC>gtT p.V341V PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000320740.7_Silent_p.V365V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 365 cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 GCGGGCACGTCCATGGCTACC 0.711000 12 12 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219922332 219922332 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr2:219922332C>T ENST00000295731.5 - 2 399 c.400G>A c.(400-402)Gac>Aac p.D134N NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 134 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGTCCTCGTCCCAGCCCTCG 0.627000 14 17 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938452 38938452 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr3:38938452G>A ENST00000450244.1 - 14 2485 c.2287C>T c.(2287-2289)Cgc>Tgc p.R763C SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 763 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAGAGGATGCGGAATACCACT 0.473000 4 25 0 0 1 0 0 ZNF621 285268 broad.mit.edu 37 3 40574112 40574112 + Missense_Mutation SNP T T G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr3:40574112T>G ENST00000339296.5 + 5 1303 c.851T>G c.(850-852)aTt>aGt p.I284S ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) CATCAGAGAATTCATACTGGG 0.433000 10 23 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34029798 34029798 + Translation_Start_Site SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:34029798C>T ENST00000545715.1 - 0 297 GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000374181.3_Silent_p.V248V|GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000538487.1_Silent_p.V248V|GRM4_ENST00000544773.1_Silent_p.V79V Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGGCGATGCACACGCCCCCTG 0.642000 15 28 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28206168 28206168 + Silent SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr1:28206168C>T ENST00000373921.3 + 3 253 c.249C>T c.(247-249)ccC>ccT p.P83P THEMIS2_ENST00000373925.1_Silent_p.P83P|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.P83P NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 ACTTCACCCCCCTCAACACCC 0.617000 4 22 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129189971 129189971 + Silent SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:129189971C>T ENST00000540052.1 + 12 5040 c.4996C>T c.(4996-4998)Ctg>Ttg p.L1666L BCORL1_ENST00000218147.7_Silent_p.L1666L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000359304.2_Silent_p.L1536L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1666 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CAGTCAGCTGCTGACCCCTGC 0.617000 53 88 0 0 1 0 0 TAAR9 134860 broad.mit.edu 37 6 132860099 132860099 + RNA SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:132860099C>T ENST00000434551.1 + 0 671 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TTTTTGGTGGCCAAGCATCAG 0.433000 18 48 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75157237 75157237 + Missense_Mutation SNP A A G rs149108334 TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr8:75157237A>G ENST00000342232.4 - 4 1472 c.1432T>C c.(1432-1434)Tcc>Ccc p.S478P NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 478 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTTGGGGAGGAAGCAGGAGAG 0.537000 4 88 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168281192 168281192 + Missense_Mutation SNP G G A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:168281192G>A ENST00000366806.2 + 6 1034 c.892G>A c.(892-894)Gcc>Acc p.A298T MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 298 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTACTGCATCGCCCGGGTAAG 0.383000 T MLL AL 10 102 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107303781 107303781 + Missense_Mutation SNP G G T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr7:107303781G>T ENST00000265715.3 + 3 429 c.205G>T c.(205-207)Gtg>Ttg p.V69L NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 69 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 AAAGACTCTTGTGCCCATCTT 0.468000 Pendred syndrome 4 114 0.150653 0.150653 1 1 0 PMS2 5395 broad.mit.edu 37 7 6045657 6045657 + Missense_Mutation SNP T T G TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr7:6045657T>G ENST00000265849.7 - 2 134 c.29A>C c.(28-30)gAa>gCa p.E10A PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 10 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTTAGCAGGTTCTGTACTAGA 0.388000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 17 139 0 0 1 0 0 OAZ1 4946 broad.mit.edu 37 19 2273072 2273072 + Missense_Mutation SNP T T C TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr19:2273072T>C ENST00000583542.3 + 6 755 c.676T>C c.(676-678)Ttc>Ctc p.F226L OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Missense_Mutation_p.F218L|OAZ1_ENST00000582888.3_Missense_Mutation_p.F216L P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 218 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) L-Ornithine(DB00129) GGCCTACACGTTCGAGAGAGA 0.637000 5 5 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 5 39 0.014758 0.0151569 1 1 0 KIAA0020 9933 broad.mit.edu 37 9 2829902 2829902 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr9:2829902C>T ENST00000397885.2 - 8 930 c.724G>A c.(724-726)Gtg>Atg p.V242M KIAA0020_ENST00000469168.1_5'UTR NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 242 PUM-HD. endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) ATCTTCCTCACGTGGCCTTTA 0.448000 29 99 0 0 1 0 0 FECH 2235 broad.mit.edu 37 18 55238765 55238765 + Missense_Mutation SNP C C T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr18:55238765C>T ENST00000262093.5 - 4 473 c.322G>A c.(322-324)Gca>Aca p.A108T FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.A114T NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 108 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) ATGAATGGTGCCAGCTTACTA 0.423000 5 63 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92538511 92538511 + Missense_Mutation SNP A A T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr11:92538511A>T ENST00000298047.6 + 10 9106 c.9089A>T c.(9088-9090)gAt>gTt p.D3030V FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3030 Cadherin 28. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCAGTGTGTGATCAGGTGAGA 0.423000 TCGA Ovarian(4;0.039) 5 9 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 3 5 --- --- --- --- CCNG2 901 broad.mit.edu 37 4 78080651 78080652 + Frame_Shift_Ins INS - - A TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr4:78080651_78080652insA ENST00000316355.5 + 3 626_627 c.270_271insA c.(268-273)cttgaafs p.E91fs CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.E91fs NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 91 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TCTTGGCTCTTATGAAGGTATT 0.356 13 73 --- --- --- --- COL11A2 1302 broad.mit.edu 37 6 33159977 33159979 + In_Frame_Del DEL AGG AGG - TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr6:33159977_33159979delAGG ENST00000341947.2 - 1 266_268 c.39_41delCCT c.(37-42)cta>ct p.LL13del COL11A2_ENST00000357486.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374713.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000395197.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374714.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374712.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374708.4_In_Frame_Del_p.LL13del|COL11A2_ENST00000361917.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000395194.1_In_Frame_Del_p.LL13del NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 13 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACCAGAGGTAGGAGGAGGAGGA 0.675 3 6 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 4 7 --- --- --- --- LINC00599 0 broad.mit.edu 37 8 9760970 9760973 + RNA DEL GAGA GAGA - TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr8:9760970_9760973delGAGA ENST00000385275.1 - 0 9_12 NR_029668.1 TGTGAACACGGAGAGAGAGGCCTT 0.520 8 10 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 5 3 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920172 76920173 + Frame_Shift_Ins INS - - T TCGA-QH-A6X9-01A-12D-A32B-08 TCGA-QH-A6X9-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06e076ce-a099-496a-a118-34a496ecf085 2cf52792-dfc5-4836-b7e4-f695939350bb g.chrX:76920172_76920173insT ENST00000373344.5 - 11 4118_4119 c.3904_3905insA c.(3904-3906)aacfs p.N1302fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTTCCAGTTCTTTTTTTCCCT 0.376 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 45 29 --- --- --- ---