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 DTNB 1838 broad.mit.edu 37 2 25851073 25851073 + Missense_Mutation SNP A A C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr2:25851073A>C ENST00000406818.3 - 4 578 c.329T>G c.(328-330)cTc>cGc p.L110R DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.L53R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.L110R|DTNB_ENST00000407661.3_Missense_Mutation_p.L110R|DTNB_ENST00000407038.3_Missense_Mutation_p.L110R|DTNB_ENST00000407186.1_Missense_Mutation_p.L110R|DTNB_ENST00000405222.1_Missense_Mutation_p.L110R|DTNB_ENST00000404103.3_Missense_Mutation_p.L110R NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 110 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTGAGGAGGAGGCTGATAGA 0.428000 7 26 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121028755 121028755 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:121028755G>A ENST00000392793.1 + 14 4782 c.4511G>A c.(4510-4512)cGc>cAc p.R1504H TECTA_ENST00000264037.2_Missense_Mutation_p.R1504H O75443 TECTA_HUMAN tectorin alpha 1504 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCTTCCTGCGCTTCCCAGCC 0.657000 11 20 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40430352 40430352 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr19:40430352C>T ENST00000221347.6 - 3 1598 c.1591G>A c.(1591-1593)Gtc>Atc p.V531I NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 531 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGCACAGTGACGAGGCCCACG 0.652000 16 18 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 6 803 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37836309 37836309 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr4:37836309G>A ENST00000381967.4 + 3 419 c.319G>A c.(319-321)Gcc>Acc p.A107T PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 107 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 CAGTTTTGACGCCCGAGCTCA 0.343000 3 51 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164521 151164521 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr3:151164521C>T ENST00000282466.3 - 4 3247 c.3248G>A c.(3247-3249)aGt>aAt p.S1083N NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1083 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGAGCAGCACTTGGAAAAGA 0.488000 33 79 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074846 106074846 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr10:106074846C>T ENST00000278071.2 - 3 1416 c.964G>A c.(964-966)Gac>Aac p.D322N ITPRIP_ENST00000337478.1_Missense_Mutation_p.D322N|ITPRIP_ENST00000358187.2_Missense_Mutation_p.D322N NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 322 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 AAGGCCAGGTCGAACTCGTAC 0.572000 25 61 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 5 62 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237552 56237552 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:56237552C>T ENST00000312240.2 - 1 462 c.422G>A c.(421-423)cGa>cAa p.R141Q NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AGTAATCAGTCGAATACAGAC 0.398000 43 93 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233898824 233898824 + Splice_Site SNP A A C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr2:233898824A>C ENST00000233840.3 + 2 201 c.e2-1 NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CTCCCTACTCAGTGGCAAGCT 0.637000 23 56 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50212049 50212049 + Missense_Mutation SNP C C A rs141796718 by1000genomes TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr19:50212049C>A ENST00000392518.4 + 14 1891 c.1519C>A c.(1519-1521)Ccc>Acc p.P507T CPT1C_ENST00000323446.5_Missense_Mutation_p.P507T|CPT1C_ENST00000405931.2_Missense_Mutation_p.P496T|CPT1C_ENST00000598293.1_Missense_Mutation_p.P507T|CPT1C_ENST00000354199.5_Missense_Mutation_p.P507T NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 507 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GCACCCGGACCCCACACTACC 0.592000 23 71 5.35356e-11 5.74291e-11 1 1 0 COL21A1 0 broad.mit.edu 37 6 55939043 55939043 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr6:55939043G>A ENST00000244728.5 - 20 2349 c.1952C>T c.(1951-1953)aCa>aTa p.T651I COL21A1_ENST00000370808.2_Missense_Mutation_p.T51I|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.T651I|COL21A1_ENST00000370819.1_Missense_Mutation_p.T648I NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 651 Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AGATCCCGGTGTTCCAGGCTG 0.323000 17 49 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209518 140209518 + Silent SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr5:140209518G>A ENST00000529310.1 + 1 1956 c.1842G>A c.(1840-1842)ccG>ccA p.P614P PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.P614P(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGCCCCCGGCAAGCAGCG 0.672000 26 74 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51868169 51868169 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:51868169G>A ENST00000371733.3 - 18 1916 c.1820C>T c.(1819-1821)tCg>tTg p.S607L EPS15_ENST00000396122.4_Missense_Mutation_p.S284L|EPS15_ENST00000371730.2_Missense_Mutation_p.S473L NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 607 15 X 3 AA repeats of D-P-F. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ACCTGTCAGCGAACTTGAGTC 0.264000 T MLL ALL 8 95 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748153 143748153 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr7:143748153G>A ENST00000408906.2 + 1 693 c.659G>A c.(658-660)cGc>cAc p.R220H NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCCTACTCGCGCATCCTGGCG 0.607000 4 187 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185834881 185834881 + Silent SNP T T C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:185834881T>C ENST00000271588.4 + 4 736 c.507T>C c.(505-507)ttT>ttC p.F169F HMCN1_ENST00000367492.2_Silent_p.F169F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 169 VWFA. 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 AGGTCGTATTTGTTCTGACTG 0.338000 28 39 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272280 158272280 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr2:158272280C>T ENST00000264192.3 - 8 1110 c.989G>A c.(988-990)cGg>cAg p.R330Q CYTIP_ENST00000540637.1_Missense_Mutation_p.R224Q NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 330 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TCTGCTCTTCCGGGGCAGGGT 0.512000 25 44 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137237147 137237147 + Missense_Mutation SNP G G T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr7:137237147G>T ENST00000453654.1 - 20 1754 c.1215C>A c.(1213-1215)agC>agA p.S405R DGKI_ENST00000288490.5_Missense_Mutation_p.S705R|DGKI_ENST00000446122.1_Missense_Mutation_p.S705R|DGKI_ENST00000424189.2_Missense_Mutation_p.S705R O75912 DGKI_HUMAN diacylglycerol kinase, iota 705 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TTCTCCTCTTGCTCTTCTGTA 0.512000 6 81 0.00116845 0.00120944 1 1 0 DDI1 414301 broad.mit.edu 37 11 103908337 103908337 + Missense_Mutation SNP G G A rs114046986 by1000genomes TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:103908337G>A ENST00000302259.3 + 1 1030 c.787G>A c.(787-789)Gcc>Acc p.A263T PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 263 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGACTCGGGCGCCCAGATGAC 0.537000 50 69 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123333379 123333379 + Silent SNP C C A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr12:123333379C>A ENST00000253083.4 + 4 462 c.337C>A c.(337-339)Cgg>Agg p.R113R NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 113 ENTH. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CAGCAACATCCGGGAGATTGG 0.642000 3 57 0.150653 0.153251 1 1 0 TPR 7175 broad.mit.edu 37 1 186307346 186307346 + Missense_Mutation SNP T T C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:186307346T>C ENST00000367478.3 - 31 4477 c.4181A>G c.(4180-4182)aAc>aGc p.N1394S NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1394 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTGAATTAAGTTCTGGTTGTT 0.299000 T NTRK1 papillary thyroid 17 27 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216011338 216011338 + Silent SNP A A G TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:216011338A>G ENST00000366943.2 - 47 9752 c.9366T>C c.(9364-9366)acT>acC p.T3122T USH2A_ENST00000307340.3_Silent_p.T3122T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3122 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTACCTTGAAGTGATGCCAC 0.383000 HNSCC(13;0.011) 4 88 0 0 1 0 0 PCDHB10 0 broad.mit.edu 37 5 140574091 140574091 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr5:140574091G>A ENST00000239446.4 + 1 2150 c.1966G>A c.(1966-1968)Gcc>Acc p.A656T NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 656 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGCCACCGCCACGCTGCA 0.711000 18 69 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67003937 67003937 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr17:67003937C>T ENST00000340001.4 - 25 3609 c.3398G>A c.(3397-3399)aGa>aAa p.R1133K ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1133K NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1133 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ACTATTTTTTCTCCCATTGCG 0.313000 31 58 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24975732 24975732 + Missense_Mutation SNP T T G TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr14:24975732T>G ENST00000250378.3 - 3 317 c.288A>C c.(286-288)caA>caC p.Q96H RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 96 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) GATGACGGAATTGCTTTATAA 0.428000 38 101 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74272813 74272813 + Missense_Mutation SNP G G C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr17:74272813G>C ENST00000262765.5 - 17 4982 c.4803C>G c.(4801-4803)caC>caG p.H1601Q NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1601 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCTTGTAAATGTGGCCATCCA 0.597000 40 67 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17446197 17446197 + Splice_Site SNP G G T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr20:17446197G>T ENST00000262545.2 + 11 1744 c.1430_splice c.e11+1 p.E477_splice PCSK2_ENST00000536609.1_Splice_Site_p.E442_splice|PCSK2_ENST00000377899.1_Splice_Site_p.E458_splice|PCSK2_ENST00000459871.1_3'UTR NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 477 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGGACCCTGAGTAAGTGGG 0.537000 11 11 0.000151284 0.000159389 1 1 0 IRF7 3665 broad.mit.edu 37 11 614247 614247 + Silent SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:614247C>T ENST00000397566.1 - 4 1054 c.645G>A c.(643-645)ggG>ggA p.G215G IRF7_ENST00000348655.6_Silent_p.G202G|IRF7_ENST00000330243.5_Silent_p.G215G|IRF7_ENST00000397570.1_Silent_p.G202G|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000397574.2_Silent_p.G202G|IRF7_ENST00000525445.1_Silent_p.G96G NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 202 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGATCTGCCCCCCATGACG 0.677000 3 13 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120859294 120859294 + Silent SNP T T C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr8:120859294T>C ENST00000313655.4 - 4 727 c.513A>G c.(511-513)caA>caG p.Q171Q NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 171 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTGCCTGAATTTGATCAAGCA 0.303000 11 37 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1821092 1821092 + Silent SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr4:1821092C>T ENST00000302787.2 - 11 2012 c.1716G>A c.(1714-1716)ctG>ctA p.L572L NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 572 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CATCCTCCTTCAGCAGCTCCA 0.527000 27 24 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702125 179702125 + Missense_Mutation SNP T T A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr2:179702125T>A ENST00000420890.2 - 23 3938 c.3821A>T c.(3820-3822)gAt>gTt p.D1274V CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D699V NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 699 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ATTGCATGCATCCGCAAAGGC 0.522000 23 38 0 0 1 0 0 NME9 347736 broad.mit.edu 37 3 138036991 138036991 + Splice_Site SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr3:138036991G>A ENST00000383180.2 - 6 437 c.201_splice c.e6+1 p.A67_splice NME9_ENST00000536478.1_Splice_Site_p.A67_splice|NME9_ENST00000484930.1_Intron|NME9_ENST00000333911.3_Splice_Site_p.A89_splice|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Splice_Site_p.A67_splice NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 89 Thioredoxin. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TGTACTTACTGCATAAAACAG 0.398000 3 40 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088188 43088188 + Missense_Mutation SNP G G T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr10:43088188G>T ENST00000359467.3 - 5 2324 c.2210C>A c.(2209-2211)gCt>gAt p.A737D ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 737 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 CTGATGTTTAGCAAGGTCTGA 0.393000 41 99 9.73076e-26 1.06318e-25 1 1 0 HPN 3249 broad.mit.edu 37 19 35540280 35540280 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr19:35540280G>A ENST00000262626.2 + 3 928 c.103G>A c.(103-105)Gca>Aca p.A35T HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.A35T NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 35 cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CATCGGGGCGGCATCCTGGGC 0.662000 4 109 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634658 178634658 + Silent SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr5:178634658G>A ENST00000251582.7 - 4 848 c.747C>T c.(745-747)caC>caT p.H249H ADAMTS2_ENST00000274609.5_Silent_p.H249H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 249 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGCTGTTGGCGTGCTCCTCTA 0.657000 6 96 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 7 56 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810901 65810901 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:65810901C>T ENST00000312006.4 - 3 654 c.373G>A c.(373-375)Gtg>Atg p.V125M GAL3ST3_ENST00000527878.1_Missense_Mutation_p.V125M NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 125 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 CTGGCCAGCACGTGCGGCGGC 0.711000 8 13 0 0 1 0 0 C2orf44 80304 broad.mit.edu 37 2 24262247 24262247 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr2:24262247G>A ENST00000295148.4 - 2 175 c.118C>T c.(118-120)Cgg>Tgg p.R40W C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 40 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTGAAGCCGCAAATCAGTT 0.507000 T ALK NSCLC 3 59 0 0 1 0 0 PDE6D 5147 broad.mit.edu 37 2 232602765 232602765 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr2:232602765G>A ENST00000287600.4 - 3 417 c.223C>T c.(223-225)Cgc>Tgc p.R75C PDE6D_ENST00000409772.1_Missense_Mutation_p.R75C NM_002601.2 NP_002592.1 O43924 PDE6D_HUMAN phosphodiesterase 6D, cGMP-specific, rod, delta 75 regulation of GTP catabolic process|response to stimulus|visual perception 3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding p.R75C(1) endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142) Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154) TGTTCCAGGCGGAATTTTTCC 0.443000 22 36 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14108213 14108213 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:14108213G>A ENST00000235372.7 + 8 4779 c.3923G>A c.(3922-3924)cGt>cAt p.R1308H PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1308 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TACCATCACCGTAACCCCATG 0.443000 4 164 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159128 18159128 + Missense_Mutation SNP C C G TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:18159128C>G ENST00000396275.2 + 3 740 c.379C>G c.(379-381)Ccc>Gcc p.P127A NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 127 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CATCCTGTGGCCCATCTGGTA 0.572000 6 138 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104118778 104118778 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr12:104118778C>T ENST00000388887.2 + 45 4913 c.4709C>T c.(4708-4710)gCc>gTc p.A1570V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1570 EGF-like 14. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGTGAATTTGCCATCTGCAAC 0.468000 4 234 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40359850 40359850 + Silent SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr6:40359850C>T ENST00000338305.6 - 3 2744 c.2202G>A c.(2200-2202)gcG>gcA p.A734A NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 734 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CGACCCCTCCCGCCGCCGCAG 0.672000 9 17 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7759621 7759621 + Missense_Mutation SNP C C T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr10:7759621C>T ENST00000358415.4 + 6 666 c.500C>T c.(499-501)aCg>aTg p.T167M ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.T156M NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 167 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AACTTCAGAACGGAAGTAAAT 0.488000 9 206 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11917051 11917051 + Missense_Mutation SNP A A G TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr19:11917051A>G ENST00000323169.5 + 3 614 c.283A>G c.(283-285)Agg>Ggg p.R95G ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 AACACATGAAAGGCCTCACAC 0.393000 31 45 0 0 1 0 0 SLC31A1 1317 broad.mit.edu 37 9 116018436 116018436 + Missense_Mutation SNP A A T TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr9:116018436A>T ENST00000374212.4 + 2 160 c.8A>T c.(7-9)cAt>cTt p.H3L CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.H3L NM_001859.3 NP_001850.1 O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 3 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 AAAATGGATCATTCCCACCAT 0.383000 21 54 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444143 5444143 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr11:5444143G>A ENST00000300778.4 + 1 803 c.713G>A c.(712-714)cGt>cAt p.R238H HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R238H(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCGACTCCGTGCCCTCAAT 0.488000 25 63 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19756730 19756730 + Missense_Mutation SNP T T C TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr19:19756730T>C ENST00000357324.6 - 24 3339 c.3313A>G c.(3313-3315)Atc>Gtc p.I1105V ATP13A1_ENST00000291503.5_Missense_Mutation_p.I987V NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 1105 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 ATGGCCATGATGTAGACGGTG 0.582000 66 128 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 3 30 0 0 1 0 0 RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 2 4 --- --- --- --- LINC00475 0 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 2 4 --- --- --- --- ALDH1A3 220 broad.mit.edu 37 15 101438349 101438350 + Frame_Shift_Ins INS - - G rs142377552 byFrequency TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 860c80f6-64b2-4089-87ee-8d64a6eba17b c9b96788-9d99-4be5-a458-9e3d2c8755ea g.chr15:101438349_101438350insG ENST00000329841.5 + 8 1374_1375 c.842_843insG c.(841-843)cggfs p.R281fs ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 281 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ACGCTGGAGCTGGGGGGGAAGA 0.569 12 48 --- --- --- ---