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 ZAN 7455 broad.mit.edu 37 7 100349994 100349994 + RNA SNP C C A rs221829 TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr7:100349994C>A ENST00000542585.1 + 0 2414 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P756T(8) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCATCTCCCCAGAAAAACC 0.517000 6 152 0.000157383 0.000164647 1 1 0 DST 667 broad.mit.edu 37 6 56373517 56373517 + Nonsense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr6:56373517C>T ENST00000370754.5 - 75 18955 c.18956G>A c.(18955-18957)tGg>tAg p.W6319* DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.W6030*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*|DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727* Q03001 DYST_HUMAN dystonin 6139 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATGTTCTCCCAAATGAAAAC 0.438000 25 67 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1560431 1560431 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:1560431G>A ENST00000357210.4 + 6 977 c.761G>A c.(760-762)cGg>cAg p.R254Q MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q|MIB2_ENST00000518681.1_Intron NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 254 MIB/HERC2 2. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAGACAGGCCGGAGTGTGGCC 0.657000 4 140 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39917543 39917543 + Silent SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr22:39917543A>G ENST00000337304.2 + 1 975 c.93A>G c.(91-93)ctA>ctG p.L31L ATF4_ENST00000404241.2_Silent_p.L31L|ATF4_ENST00000396680.1_Silent_p.L31L NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 31 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) AAGAAAGCCTAGGTCTCTTAG 0.572000 32 97 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758020 77758020 + Missense_Mutation SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr17:77758020A>G ENST00000310942.4 + 5 882 c.778A>G c.(778-780)Atg>Gtg p.M260V NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 260 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGTGCACTACATGAACCGGAT 0.657000 5 108 0 0 1 0 0 IGKV1-12 0 broad.mit.edu 37 2 89339991 89339991 + RNA SNP G G C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr2:89339991G>C ENST00000480492.1 - 0 127 ATGGAGACTGGGTCATCTGGA 0.463000 51 363 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38960079 38960079 + Missense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr19:38960079C>T ENST00000355481.4 + 27 3822 c.3691C>T c.(3691-3693)Cgc>Tgc p.R1231C RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1231C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1231 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAACATGCAGCGCCCAGTCAC 0.577000 8 216 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 47000209 47000209 + Silent SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr10:47000209C>T ENST00000374314.4 + 1 2284 c.1329C>T c.(1327-1329)tcC>tcT p.S443S GPRIN2_ENST00000374317.1_Silent_p.S443S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 443 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TCATGCAGTCCCTGCGGCGCC 0.706000 3 20 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6772975 6772975 + Translation_Start_Site SNP C C A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr19:6772975C>A ENST00000539284.1 + 0 7 VAV1_ENST00000304076.2_Missense_Mutation_p.H53N|VAV1_ENST00000602142.1_Missense_Mutation_p.H53N|VAV1_ENST00000596764.1_Missense_Mutation_p.H53N P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCTGCTACCCCATGCCATCAA 0.657000 5 161 8.12818e-05 8.6362e-05 1 1 0 OR52E8 390079 broad.mit.edu 37 11 5878305 5878305 + Missense_Mutation SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr11:5878305A>G ENST00000537935.1 - 1 659 c.628T>C c.(628-630)Tct>Cct p.S210P TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACAAGAGAGATATGTTGCCA 0.478000 5 106 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140563340 140563340 + Silent SNP C C A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr5:140563340C>A ENST00000361016.2 + 1 2361 c.1206C>A c.(1204-1206)acC>acA p.T402T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 402 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTTTACACCTTGGTAACGG 0.473000 21 91 8.10497e-08 9.03505e-08 1 1 0 KLB 152831 broad.mit.edu 37 4 39448817 39448817 + Missense_Mutation SNP A A T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr4:39448817A>T ENST00000257408.4 + 4 2568 c.2471A>T c.(2470-2472)aAc>aTc p.N824I NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 824 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TGCGCGCTCAACCACTTCACC 0.657000 9 89 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55148088 55148088 + Silent SNP G G A rs140346115 by1000genomes TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr19:55148088G>A ENST00000396331.1 + 15 2148 c.1791G>A c.(1789-1791)agG>agA p.R597R LILRB1_ENST00000324602.7_Silent_p.R599R|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.R599R|LILRB1_ENST00000396332.4_Silent_p.R598R|LILRB1_ENST00000396317.1_Silent_p.R581R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.R597R|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.R581R|LILRB1_ENST00000396327.3_Silent_p.R598R|LILRB1_ENST00000427581.2_Silent_p.R648R|LILRB1_ENST00000434867.2_Silent_p.R597R NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 597 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AAGAGGACAGGCAGATGGACA 0.607000 HNSCC(37;0.09) 3 44 0 0 1 0 0 PLAC8 51316 broad.mit.edu 37 4 84015882 84015882 + Silent SNP G G T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr4:84015882G>T ENST00000426923.2 - 4 384 c.306C>A c.(304-306)atC>atA p.I102I PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000509973.1_Silent_p.I45I|PLAC8_ENST00000411416.2_Silent_p.I102I|PLAC8_ENST00000311507.4_Silent_p.I102I|PLAC8_ENST00000505406.1_Silent_p.I102I NM_001130715.1 NP_001124187.1 Q9NZF1 PLAC8_HUMAN placenta-specific 8 102 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) TATCTCTCTTGATTTGGCAAA 0.353000 5 44 0.0215528 0.0218744 1 1 0 MAP3K10 4294 broad.mit.edu 37 19 40715127 40715127 + Splice_Site SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr19:40715127G>A ENST00000253055.3 + 6 1840 c.e6+1 NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GCCATTCGCCGTGAGTATCTC 0.552000 4 98 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023064 18023064 + Missense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr17:18023064C>T ENST00000205890.5 + 2 1288 c.950C>T c.(949-951)gCg>gTg p.A317V NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 317 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCCCCATATGCGCCCCCGTCG 0.602000 4 138 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 6 89 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6261374 6261374 + Missense_Mutation SNP T T G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr11:6261374T>G ENST00000379936.2 + 4 465 c.350T>G c.(349-351)tTg>tGg p.L117W CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 117 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTTTCTTCTTGGACCTGGCT 0.632000 97 238 0 0 1 0 0 EZH2 0 broad.mit.edu 37 7 148544345 148544345 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr7:148544345G>A ENST00000320356.2 - 2 167 c.46C>T c.(46-48)Cgg>Tgg p.R16W EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000460911.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W|EZH2_ENST00000476773.1_Missense_Mutation_p.R16W NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 16 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ACACGCTTCCGCCAACAAACT 0.388000 Mis DLBCL 5 351 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4832521 4832521 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:4832521G>A ENST00000378191.4 + 4 1480 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 367 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ATCTGTGCCCGTGTACACCGA 0.587000 5 56 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10474068 10474068 + Missense_Mutation SNP G G T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr8:10474068G>T ENST00000382483.3 - 3 862 c.639C>A c.(637-639)agC>agA p.S213R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 213 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCACAGAGGGGCTGTGCAGCA 0.632000 14 45 4.3838e-07 4.80804e-07 1 1 0 WDR60 55112 broad.mit.edu 37 7 158716310 158716310 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr7:158716310G>A ENST00000407559.3 + 17 2301 c.2143G>A c.(2143-2145)Gga>Aga p.G715R NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 715 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) ACTGTTTGCCGGAACAGCGCA 0.502000 4 159 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145109715 145109715 + Splice_Site SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr8:145109715C>T ENST00000426825.1 - 18 2592 c.2511_splice c.e18+1 p.P837_splice OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 837 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CACCCCTCACCGGTGTGATAA 0.672000 14 52 0 0 1 0 0 KCNS1 3787 broad.mit.edu 37 20 43727084 43727084 + Missense_Mutation SNP A A T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr20:43727084A>T ENST00000306117.1 - 4 725 c.329T>A c.(328-330)tTc>tAc p.F110Y KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 110 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) GCTCAGGAAGAAGCCCGGGTG 0.692000 5 13 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117307910 117307910 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr11:117307910G>A ENST00000321322.6 - 26 4829 c.4828C>T c.(4828-4830)Cgc>Tgc p.R1610C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1550 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCCCTCATGCGCAGCTCGTAC 0.647000 4 198 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39448818 39448818 + Silent SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr4:39448818C>T ENST00000257408.4 + 4 2569 c.2472C>T c.(2470-2472)aaC>aaT p.N824N NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 824 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GCGCGCTCAACCACTTCACCA 0.652000 10 89 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696688 47696688 + Missense_Mutation SNP T T C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr17:47696688T>C ENST00000393331.3 - 6 730 c.260A>G c.(259-261)tAc>tGc p.Y87C SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 87 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.Y87C(2)|p.Y87S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAGTAACAGGTAAAGTGACAG 0.403000 Prostate(2;0.17) 20 60 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20442593 20442593 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr16:20442593G>A ENST00000331849.4 + 10 1405 c.1258G>A c.(1258-1260)Gcc>Acc p.A420T NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 420 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GGGGAATGTTGCCGTCCGTAT 0.512000 9 162 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166698 100166698 + Splice_Site SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr12:100166698A>G ENST00000547776.2 - 8 1128 c.e8+1 ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CGCCTTACTTACTACACTCTG 0.433000 7 47 0 0 1 0 0 DNM1P34 0 broad.mit.edu 37 15 75594029 75594029 + RNA SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr15:75594029A>G ENST00000567292.1 - 0 540 TCTTGTCCCCATGCAAGTACA 0.577000 8 7 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47889325 47889325 + Missense_Mutation SNP T T C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr3:47889325T>C ENST00000446256.2 + 15 2620 c.2048T>C c.(2047-2049)gTt>gCt p.V683A DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A|DHX30_ENST00000445061.1_Missense_Mutation_p.V722A NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 722 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAGCCTCCAGTTGGGGTGCGC 0.527000 4 63 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152469436 152469436 + Nonsense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr6:152469436C>T ENST00000367255.5 - 137 25321 c.24720G>A c.(24718-24720)tgG>tgA p.W8240* SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8240 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCGGTCGTGCCAGTGCAGGT 0.617000 HNSCC(10;0.0054) 9 86 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40843951 40843951 + Missense_Mutation SNP G G T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr17:40843951G>T ENST00000264638.4 + 16 2689 c.2472G>T c.(2470-2472)gaG>gaT p.E824D CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 824 Laminin G-like 3. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TCTTCCTAGAGAATATGGGGG 0.607000 6 370 8.12818e-05 8.6362e-05 1 1 0 MAZ 4150 broad.mit.edu 37 16 29820948 29820948 + Missense_Mutation SNP T T A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr16:29820948T>A ENST00000219782.6 + 5 1473 c.1367T>A c.(1366-1368)cTg>cAg p.L456Q MAZ_ENST00000568544.1_Intron|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000322945.6_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Intron NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 194 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 CTGTGCAAGCTGTGCAGCGTG 0.711000 13 35 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968222 64968222 + Silent SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr10:64968222A>G ENST00000399262.2 - 10 3425 c.3207T>C c.(3205-3207)gaT>gaC p.D1069D JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000402544.1_Silent_p.D850D|JMJD1C_ENST00000542921.1_Silent_p.D887D NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1069 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AGCGTTCTACATCCATATCTT 0.388000 70 167 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117033092 117033092 + Missense_Mutation SNP C C T rs151170440 TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chrX:117033092C>T ENST00000371876.1 - 6 4015 c.1594G>A c.(1594-1596)Gct>Act p.A532T KLHL13_ENST00000262820.3_Missense_Mutation_p.A583T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T Q9P2N7 KLH13_HUMAN kelch-like family member 13 583 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCGAAGACAGCGACCCCAACA 0.413000 4 117 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181726120 181726120 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:181726120G>A ENST00000526775.1 + 29 4295 c.4130G>A c.(4129-4131)cGc>cAc p.R1377H CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1396H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1396 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CGCAGCAACCGCATGGAGATG 0.488000 26 92 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1624784 1624784 + Splice_Site SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr8:1624784G>A ENST00000421627.2 + 8 2182 c.2048_splice c.e8+1 p.R683_splice NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 762 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GATGAGAAGCGGTAACTCAGC 0.582000 3 26 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156828373 156828373 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:156828373G>A ENST00000368195.3 - 1 437 c.41C>T c.(40-42)cCt>cTt p.P14L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 14 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GAAGATCACAGGCAGGCATGC 0.632000 17 77 0 0 1 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514330 58514330 + Silent SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr20:58514330C>T ENST00000370996.3 - 1 1022 c.657G>A c.(655-657)gcG>gcA p.A219A FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 219 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) ACCGCGCCACCGCCTCGTGGG 0.687000 11 72 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141049577 141049577 + Missense_Mutation SNP C C G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr5:141049577C>G ENST00000239440.4 - 15 2226 c.2161G>C c.(2161-2163)Gaa>Caa p.E721Q ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 721 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGGCTGTTTTCCGATGCAAAC 0.587000 8 95 0 0 1 0 0 GFI1 2672 broad.mit.edu 37 1 92944268 92944268 + Silent SNP T T G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:92944268T>G ENST00000370332.1 - 6 1285 c.967A>C c.(967-969)Agg>Cgg p.R323R GFI1_ENST00000294702.5_Silent_p.R323R|GFI1_ENST00000427103.1_Silent_p.R323R NM_001127215.1 NP_001120687.1 Q99684 GFI1_HUMAN growth factor independent 1 transcription repressor 323 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) GTGGATGACCTCTTGAAGCTC 0.517000 23 85 0 0 1 0 0 ALKBH4 54784 broad.mit.edu 37 7 102100103 102100103 + Missense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr7:102100103C>T ENST00000292566.3 - 2 308 c.269G>A c.(268-270)cGg>cAg p.R90Q NM_017621.3 NP_060091.1 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 (E. coli) 90 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 GTCCATGAGCCGCACCAACTC 0.627000 47 180 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85279651 85279651 + Missense_Mutation SNP C C G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:85279651C>G ENST00000440886.1 - 2 978 c.940G>C c.(940-942)Gag>Cag p.E314Q LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 314 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 TCTGGGTTCTCCTGAGAGAAG 0.547000 28 82 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34824457 34824457 + Missense_Mutation SNP A A C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr5:34824457A>C ENST00000265109.3 + 15 2797 c.2510A>C c.(2509-2511)aAt>aCt p.N837T RAI14_ENST00000506376.1_Missense_Mutation_p.N829T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 837 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) GAAAAGGAAAATATTCAGACT 0.383000 31 97 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 113 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41029534 41029534 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr19:41029534G>A ENST00000352632.3 + 17 3931 c.3845G>A c.(3844-3846)cGg>cAg p.R1282Q SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1282 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGTGACCCGGCTGCTGGAG 0.657000 4 80 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406449 38406449 + Missense_Mutation SNP G G T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr10:38406449G>T ENST00000351773.3 + 8 1200 c.370G>T c.(370-372)Ggg>Tgg p.G124W ZNF37A_ENST00000361085.4_Missense_Mutation_p.G124W NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 124 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TAATAAAAATGGGAACAGCTT 0.333000 13 170 0.0135373 0.0139475 1 1 0 LAMC1 3915 broad.mit.edu 37 1 183085994 183085994 + Missense_Mutation SNP C C G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:183085994C>G ENST00000258341.4 + 8 1777 c.1520C>G c.(1519-1521)gCt>gGt p.A507G NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 507 axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTACAAACGCTGTTGGCTAC 0.403000 15 101 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 28 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82836888 82836888 + Missense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr5:82836888C>T ENST00000265077.3 + 8 8631 c.8066C>T c.(8065-8067)aCg>aTg p.T2689M VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2689 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTACTTCCCACGGCAACATCC 0.438000 23 112 0 0 1 0 0 LIME1 54923 broad.mit.edu 37 20 62370021 62370021 + Missense_Mutation SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr20:62370021A>G ENST00000309546.3 + 6 743 c.656A>G c.(655-657)gAc>gGc p.D219G ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR NM_017806.2 NP_060276.2 Lck interacting transmembrane adaptor 1 kidney(1)|large_intestine(1)|liver(1) 3 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GACCCGCTGGACCCCAAGGGC 0.667000 10 45 0 0 1 0 0 KLHDC9 126823 broad.mit.edu 37 1 161069967 161069967 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:161069967G>A ENST00000368011.4 + 4 1145 c.1003G>A c.(1003-1005)Gat>Aat p.D335N KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR NM_152366.4 NP_689579.3 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 335 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TTTTGGTGAGGATGGCAGGAC 0.502000 43 124 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51613289 51613289 + Missense_Mutation SNP A A G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr6:51613289A>G ENST00000371117.3 - 58 9400 c.9125T>C c.(9124-9126)aTt>aCt p.I3042T PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3042 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCCAAACACAATATTGTCATT 0.498000 26 79 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455304 70455304 + Missense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr4:70455304C>T ENST00000503640.1 - 6 1425 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 457 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GAAGACTGCTCGATCCAGGGG 0.448000 4 165 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511506 242511506 + Silent SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr1:242511506G>A ENST00000427495.1 - 2 167 c.42C>T c.(40-42)tgC>tgT p.C14C PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000536534.1_Silent_p.C76C NM_001195811.1|NM_001195812.1 NP_001182740.1|NP_001182741.1 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 76 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TGGCAAAGCAGCACACCAGGG 0.453000 4 89 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56471131 56471131 + Missense_Mutation SNP C C G TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr6:56471131C>G ENST00000370754.5 - 39 8195 c.8196G>C c.(8194-8196)tgG>tgC p.W2732C DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.W2554C|DST_ENST00000361203.3_Missense_Mutation_p.W2554C|DST_ENST00000446842.2_Missense_Mutation_p.W2228C|DST_ENST00000370769.4_Missense_Mutation_p.W2554C|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2554 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCTTCCTCTCCAACTGCCAC 0.368000 6 26 0 0 1 0 0 AC018737.1 0 broad.mit.edu 37 2 122466739 122466739 + RNA DEL G G - rs6733674 by1000genomes TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr2:122466739delG ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgtttttttttt 0.458 3 6 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187505689 187505689 + Frame_Shift_Del DEL A A - TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr2:187505689delA ENST00000261023.3 + 11 1225 c.951delA c.(949-951)ggfs p.G317fs ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 317 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACATTAATGGAGATGAGTAAG 0.289 2 4 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 138 --- --- --- --- HMGB3P22 0 broad.mit.edu 37 5 179121146 179121152 + RNA DEL AAAAAAA AAAAAAA - rs10553251 TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr5:179121146_179121152delAAAAAAA ENST00000442010.2 + 0 253 actccgtctcaaaaaaaaaaaaaaaaa 0.483 2 4 --- --- --- --- CRTC1 23373 broad.mit.edu 37 19 18864349 18864349 + Frame_Shift_Del DEL C C - TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr19:18864349delC ENST00000338797.6 + 7 651 c.626delC c.(625-627)tafs p.S209fs CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S193fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 193 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 GAGACCACATCAGAGGCAGAC 0.453 102 349 --- --- --- --- CACNA1I 8911 broad.mit.edu 37 22 40042647 40042647 + Frame_Shift_Del DEL A A - TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cea7ce0-744e-4962-ac48-f1944c48e13f 600ca654-1eb6-4434-bba1-210e230b973a g.chr22:40042647delA ENST00000336649.4 + 10 1223 c.1223delA c.(1222-1224)ggfs p.E408fs CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000402142.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 408 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AAGCAACGGGAGCACCGGCTG 0.612 2 4 --- --- --- ---