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 MMD 23531 broad.mit.edu 37 17 53471758 53471758 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:53471758C>A ENST00000262065.3 - 7 950 c.654G>T c.(652-654)gtG>gtT p.V218V NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated 218 cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity p.V218V(1) breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CGTAGTAATGCACTGCAGCTG 0.443000 62 18 6.2918e-36 1.21654e-35 0.048971 1 0 CLEC4F 165530 broad.mit.edu 37 2 71046978 71046978 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:71046978C>A ENST00000272367.2 - 2 183 c.107G>T c.(106-108)aGg>aTg p.R36M CLEC4F_ENST00000426626.1_Missense_Mutation_p.R36M NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 36 endocytosis integral to membrane receptor activity|sugar binding p.R36M(1) endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CTGAACGAGCCTCGGTATCTT 0.567000 18 9 3.51602e-12 4.96744e-12 0.049695 1 0 LRFN2 57497 broad.mit.edu 37 6 40399866 40399866 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:40399866C>A ENST00000338305.6 - 2 1529 c.987G>T c.(985-987)ctG>ctT p.L329L NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 329 Ig-like. cell junction|integral to membrane|postsynaptic membrane p.L329L(1) 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) AGTTCCCTACCAGGCGGTCAT 0.587000 17 18 7.81268e-19 1.31929e-18 0.033300 1 0 ARHGAP6 395 broad.mit.edu 37 X 11682515 11682515 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:11682515C>A ENST00000337414.4 - 1 1306 c.434G>T c.(433-435)gGg>gTg p.G145V ARHGAP6_ENST00000380718.1_Missense_Mutation_p.G145V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.G145V NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 145 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity p.G145V(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ACTGGCTGGCCCGGCCAGGAC 0.617000 15 0 7.93312e-07 9.59773e-07 0.020292 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433556 73433556 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:73433556G>T ENST00000263666.4 - 10 2275 c.2161C>A c.(2161-2163)Ctg>Atg p.L721M PDZRN3_ENST00000462146.2_Missense_Mutation_p.L378M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.L378M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L438M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L443M NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 721 ubiquitin-protein ligase activity|zinc ion binding p.L721M(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTGTTGTGCAGCATCCAGGAC 0.597000 14 24 0.000219431 0.00024339 0.020292 1 0 SLC9A5 6553 broad.mit.edu 37 16 67298319 67298319 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:67298319T>G ENST00000299798.11 + 13 1972 c.1907T>G c.(1906-1908)gTc>gGc p.V636G NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 636 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.V636G(1) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GACAAGGAGGTCTTCCAGCAG 0.587000 5 25 0 0 0.105934 0 0 GPR112 139378 broad.mit.edu 37 X 135485479 135485479 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:135485479G>A ENST00000394143.1 + 22 8943 c.8652G>A c.(8650-8652)ccG>ccA p.P2884P GPR112_ENST00000394141.1_Silent_p.P2679P|GPR112_ENST00000287534.4_Silent_p.P2637P|GPR112_ENST00000412101.1_Silent_p.P2679P|GPR112_ENST00000370652.1_Silent_p.P2884P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2884 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P2884P(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CAACAACTCCGTTGTAAGTAC 0.498000 7 4 0 0 0.029380 0 0 HDC 3067 broad.mit.edu 37 15 50555433 50555433 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:50555433C>A ENST00000267845.3 - 2 605 c.204_splice c.e2+1 p.G68_splice HDC_ENST00000543581.1_Splice_Site_p.G68_splice NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 68 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.G68V(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GTGTCTCACCCCAGGCATGAT 0.587000 23 100 1.10513e-12 1.57525e-12 0.069288 1 0 DNAJC10 54431 broad.mit.edu 37 2 183584886 183584886 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:183584886T>C ENST00000264065.6 + 4 772 c.357T>C c.(355-357)cgT>cgC p.R119R DNAJC10_ENST00000537515.1_Silent_p.R119R|DNAJC10_ENST00000469118.1_3'UTR NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 119 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding p.R119R(1) breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACTATTATCGTTATGATTTTG 0.323000 23 54 0 0 0.099896 0 0 RFWD3 55159 broad.mit.edu 37 16 74685929 74685929 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:74685929C>A ENST00000361070.4 - 3 707 c.610G>T c.(610-612)Gta>Tta p.V204L RFWD3_ENST00000571750.1_Missense_Mutation_p.V204L NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 204 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding p.V204L(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TCTTCAGATACAGGATTCCTA 0.488000 11 46 1.58986e-06 1.89835e-06 0.069234 1 0 SYNPO2 171024 broad.mit.edu 37 4 119979067 119979067 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:119979067G>T ENST00000307142.4 + 5 3960 c.3764G>T c.(3763-3765)aGg>aTg p.R1255M SYNPO2_ENST00000448416.2_3'UTR NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 0 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.R1255M(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCACACCCAAGGGGATGGAGA 0.403000 14 28 3.35478e-16 5.32768e-16 0.024245 1 0 LARP1 23367 broad.mit.edu 37 5 154182849 154182849 + Splice_Site SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:154182849G>A ENST00000336314.4 + 12 1902 c.e12-1 NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 protein binding|RNA binding p.?(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GACCTCTGCAGCAAGAAGTCG 0.517000 3 58 0 0 0.004672 0 0 RTTN 25914 broad.mit.edu 37 18 67684766 67684766 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:67684766C>A ENST00000255674.6 - 46 6584 c.6298G>T c.(6298-6300)Ggc>Tgc p.G2100C RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 2100 binding p.G2100C(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TCTAGACAGCCATCAAGCCTC 0.378000 17 32 4.14922e-12 5.81072e-12 0.028581 1 0 SLC45A1 50651 broad.mit.edu 37 1 8384429 8384429 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:8384429C>A ENST00000471889.1 + 2 425 c.40C>A c.(40-42)Ctc>Atc p.L14I SLC45A1_ENST00000377479.2_Missense_Mutation_p.L48I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L14I Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 14 carbohydrate transport integral to membrane symporter activity p.L14I(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGATGCCCTCTTCCCCAG 0.657000 31 45 1.39806e-14 2.13037e-14 0.037714 1 0 SETD2 29072 broad.mit.edu 37 3 47163563 47163563 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:47163563T>A ENST00000409792.3 - 3 2605 c.2563A>T c.(2563-2565)Agc>Tgc p.S855C NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 855 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.S352C(1)|p.S855C(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTACCGATGCTCTGCTTATAT 0.348000 """N, F, S, Mis""" clear cell renal carcinoma 29 45 0 0 0.108266 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47607618 47607618 + Silent SNP C C T rs146960510 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:47607618C>T ENST00000371917.4 + 21 2856 c.2856C>T c.(2854-2856)tcC>tcT p.S952S NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 952 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity p.S952S(1) breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTCGCTTCTCCCTACTCACAG 0.493000 11 37 0 0 0.080935 0 0 PAFAH2 5051 broad.mit.edu 37 1 26310565 26310565 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:26310565C>A ENST00000374282.3 - 6 603 c.424G>T c.(424-426)Gca>Tca p.A142S PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.A142S NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 142 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding p.A142S(1) NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TAGGTGGTTGCCGCTGACCGG 0.498000 31 122 4.31634e-10 5.80348e-10 0.050027 1 0 HOXA13 3209 broad.mit.edu 37 7 27238027 27238027 + Nonsense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:27238027A>C ENST00000222753.4 - 2 985 c.957T>G c.(955-957)taT>taG p.Y319* NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 319 skeletal system development nucleus sequence-specific DNA binding p.Y319*(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TCCCCCTCCTATAGGAGCTGG 0.512000 T NUP98 AML OREG0003748 type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 72 0 0 0.083992 0 0 BRD1 23774 broad.mit.edu 37 22 50192297 50192297 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:50192297G>A ENST00000216267.8 - 4 2180 c.1694C>T c.(1693-1695)aCc>aTc p.T565I BRD1_ENST00000404034.1_Missense_Mutation_p.T565I|BRD1_ENST00000404760.1_Missense_Mutation_p.T565I|BRD1_ENST00000542442.1_Missense_Mutation_p.T258I|BRD1_ENST00000457780.2_Missense_Mutation_p.T565I|BRD1_ENST00000342989.5_Missense_Mutation_p.T160I NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 565 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding p.T160I(1)|p.T565I(1) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGTCAGCGGGGTCAGCCGCAG 0.657000 5 11 0 0 0.014758 0 0 CSMD3 114788 broad.mit.edu 37 8 113347651 113347651 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:113347651C>A ENST00000297405.5 - 45 7316 c.7072G>T c.(7072-7074)Gct>Tct p.A2358S CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288S|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2358 CUB 13. integral to membrane|plasma membrane p.A2358S(1)|p.A2318S(1)|p.A2358T(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATTCCAAAGCGGTATTGCCA 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 30 7.11191e-15 1.09414e-14 0.054565 1 0 TMEM132B 114795 broad.mit.edu 37 12 126138981 126138981 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:126138981A>G ENST00000299308.3 + 9 2970 c.2962A>G c.(2962-2964)Agt>Ggt p.S988G TMEM132B_ENST00000535886.1_Missense_Mutation_p.S500G NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 988 integral to membrane p.S988G(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCTGAATGGCAGTTCCCAGAA 0.448000 18 4 0 0 0.038395 0 0 HTR1A 3350 broad.mit.edu 37 5 63256879 63256879 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:63256879C>T ENST00000323865.3 - 1 901 c.668G>A c.(667-669)cGc>cAc p.R223H RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 223 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity p.R223H(1) cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GATGCGGAAGCGCGCAGCTCG 0.567000 41 68 0 0 0.104719 0 0 MYT1 4661 broad.mit.edu 37 20 62850370 62850370 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:62850370A>T ENST00000536311.1 + 12 2398 c.2034A>T c.(2032-2034)ccA>ccT p.P678P MYT1_ENST00000328439.1_Silent_p.P651P|MYT1_ENST00000360149.4_Silent_p.P353P Q01538 MYT1_HUMAN myelin transcription factor 1 651 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P651P(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCACGAAGCCACAGGACCTCC 0.587000 10 18 0 0 0.069234 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175792 140175792 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140175792C>A ENST00000526136.1 + 1 1243 c.1243C>A c.(1243-1245)Cgc>Agc p.R415S PCDHA2_ENST00000520672.2_Missense_Mutation_p.R415S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R415S|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 p.R415S(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTGGACCGCGAGAGCGT 0.627000 71 89 3.58576e-35 6.87092e-35 0.048971 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329901 88329901 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:88329901C>A ENST00000325089.6 + 2 2477 c.2258C>A c.(2257-2259)cCc>cAc p.P753H SLITRK5_ENST00000400028.3_Missense_Mutation_p.P512H NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 753 integral to membrane p.P753H(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAATACATCCCCCACCCACTG 0.652000 12 41 4.3838e-07 5.3339e-07 0.105934 1 0 PLXNA2 5362 broad.mit.edu 37 1 208206713 208206713 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:208206713C>A ENST00000367033.3 - 28 5763 c.5006G>T c.(5005-5007)gGc>gTc p.G1669V NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1669 axon guidance integral to membrane|intracellular|plasma membrane p.G1669V(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CATCTTGCTGCCCCGGTCACC 0.602000 27 29 8.58068e-18 1.40811e-17 0.034045 1 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927849 13927849 + RNA SNP T T C rs146845913 by1000genomes TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:13927849T>C ENST00000602743.1 - 0 224 GTGTTGCTTCTCCACTTTGAG 0.552000 3 4 0 0 0.047766 0 0 CLVS1 157807 broad.mit.edu 37 8 62212569 62212569 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:62212569C>G ENST00000519846.1 + 3 655 c.183C>G c.(181-183)atC>atG p.I61M CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.I61M Q8IUQ0 CLVS1_HUMAN clavesin 1 61 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.I61M(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ACATGATCATCACCAGGCCTG 0.473000 26 60 0 0 0.091800 0 0 CCDC178 374864 broad.mit.edu 37 18 30903460 30903460 + Silent SNP G G T rs142817345 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:30903460G>T ENST00000383096.3 - 11 1199 c.1017C>A c.(1015-1017)gcC>gcA p.A339A CCDC178_ENST00000579947.1_Silent_p.A339A|CCDC178_ENST00000403303.1_Silent_p.A339A|CCDC178_ENST00000583930.1_Silent_p.A339A|CCDC178_ENST00000402325.1_Silent_p.A339A|CCDC178_ENST00000300227.8_Silent_p.A339A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Silent_p.A339A coiled-coil domain containing 178 p.A339E(2) CTTACTTGTAGGCCTCTATGG 0.284000 5 17 0.00116845 0.00125471 0.021553 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1994018 1994018 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:1994018G>T ENST00000382722.5 - 11 1550 c.1188C>A c.(1186-1188)tgC>tgA p.C396* CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.C396*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.C396*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.C312*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.C332*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.C332* NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 396 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.C396*(2) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGGCCTGGTTGCAGAGGCTTC 0.612000 29 8 1.50538e-07 1.86714e-07 0.030593 1 0 KDR 3791 broad.mit.edu 37 4 55976632 55976632 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:55976632A>G ENST00000263923.4 - 9 1488 c.1193T>C c.(1192-1194)gTc>gCc p.V398A NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 398 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.V398A(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGTAAGGATGACAGTGTAATT 0.418000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 33 30 0 0 0.086207 0 0 CELF3 11189 broad.mit.edu 37 1 151680397 151680397 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:151680397G>T ENST00000290583.4 - 6 1294 c.501C>A c.(499-501)agC>agA p.S167R RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.S167R|CELF3_ENST00000470688.1_5'UTR NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 167 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding p.S167R(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 TCACCACCAGGCTGGACGAGG 0.642000 5 21 0.000602214 0.000655471 0.014758 1 0 ACACB 32 broad.mit.edu 37 12 109680290 109680290 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:109680290C>T ENST00000338432.7 + 37 5190 c.5071C>T c.(5071-5073)Ctg>Ttg p.L1691L ACACB_ENST00000377848.3_Silent_p.L1691L|ACACB_ENST00000543201.1_Silent_p.L357L|ACACB_ENST00000377854.5_Silent_p.L1621L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1691 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L1691L(1)|p.L357L(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCACGGGATGCTGATCAATAC 0.532000 3 74 0 0 0.004672 0 0 CSMD1 64478 broad.mit.edu 37 8 3265713 3265713 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:3265713C>T ENST00000602557.1 - 15 2337 c.1782G>A c.(1780-1782)ggG>ggA p.G594G CSMD1_ENST00000400186.3_Silent_p.G594G|CSMD1_ENST00000602723.1_Silent_p.G594G|CSMD1_ENST00000520002.1_Silent_p.G594G|CSMD1_ENST00000537824.1_Silent_p.G593G|CSMD1_ENST00000539096.1_Silent_p.G593G|CSMD1_ENST00000542608.1_Silent_p.G593G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 594 CUB 4. integral to membrane p.G322G(1)|p.G593G(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACAGAATAATCCCAGATGATG 0.373000 5 9 0 0 0.038147 0 0 D2HGDH 728294 broad.mit.edu 37 2 242707130 242707130 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:242707130G>T ENST00000321264.4 + 10 1521 c.1312G>T c.(1312-1314)Ggt>Tgt p.G438C D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G304C NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 438 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding p.G438C(1) breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TCCAGGAGATGGTAACCTGCA 0.692000 11 41 4.36969e-10 5.8629e-10 0.105934 1 0 DICER1 23405 broad.mit.edu 37 14 95579450 95579450 + Silent SNP T T G rs12437122 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:95579450T>G ENST00000526495.1 - 14 2310 c.2019A>C c.(2017-2019)tcA>tcC p.S673S DICER1_ENST00000343455.3_Silent_p.S673S|DICER1_ENST00000541352.1_Silent_p.S673S|DICER1_ENST00000393063.1_Silent_p.S673S|DICER1_ENST00000527414.1_Silent_p.S673S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 673 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTCGAAGAGGTGAGTTAATTG 0.363000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 6 89 0 0 0.033300 0 0 ZNF648 127665 broad.mit.edu 37 1 182027050 182027050 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:182027050G>T ENST00000339948.3 - 2 303 c.96C>A c.(94-96)aaC>aaA p.N32K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N32K(1) breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CACTCTCTAAGTTCATGCTCA 0.572000 46 51 1.03325e-14 1.582e-14 0.042209 1 0 F13A1 2162 broad.mit.edu 37 6 6318847 6318847 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:6318847G>A ENST00000264870.3 - 2 316 c.51C>T c.(49-51)ccC>ccT p.P17P NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 17 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.P17P(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TAGAGTTATTGGGTGGAACTG 0.502000 28 108 0 0 0.050027 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768253 77768253 + Silent SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:77768253T>A ENST00000521891.2 + 10 9544 c.9096T>A c.(9094-9096)atT>atA p.I3032I ZFHX4_ENST00000050961.6_Silent_p.I2987I|ZFHX4_ENST00000455469.2_Silent_p.I2987I|ZFHX4_ENST00000518282.1_Silent_p.I3006I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2987 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I3016I(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACAGCACATTTCAAAAGTGA 0.532000 HNSCC(33;0.089) 21 43 0 0 0.062417 0 0 CNBD2 140894 broad.mit.edu 37 20 34596256 34596256 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:34596256C>A ENST00000373973.3 + 9 1181 c.1008C>A c.(1006-1008)atC>atA p.I336I CNBD2_ENST00000349339.1_Silent_p.I336I|CNBD2_ENST00000538900.1_Silent_p.I336I cyclic nucleotide binding domain containing 2 p.I336I(1) AATTCCAGATCAAATCATATC 0.408000 39 96 9.73076e-26 1.77427e-25 0.092188 1 0 MXRA5 25878 broad.mit.edu 37 X 3229560 3229560 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:3229560A>T ENST00000217939.6 - 7 6838 c.6684T>A c.(6682-6684)ggT>ggA p.G2228G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2228 Ig-like C2-type 6. extracellular region p.G2228G(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTAGTCATCACCAACCTTAT 0.498000 35 9 0 0 0.074837 0 0 WDR3 10885 broad.mit.edu 37 1 118477140 118477140 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:118477140C>T ENST00000349139.4 + 3 263 c.216C>T c.(214-216)tgC>tgT p.C72C WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 72 nuclear membrane|nucleolus p.C72C(1) breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CTTGCTTATGCCCCTCCCCAG 0.428000 4 70 0 0 0.009096 0 0 NTRK3 4916 broad.mit.edu 37 15 88679745 88679745 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:88679745C>G ENST00000394480.1 - 8 1039 c.718G>C c.(718-720)Gat>Cat p.D240H NTRK3_ENST00000540489.2_Missense_Mutation_p.D240H|NTRK3_ENST00000317501.3_Missense_Mutation_p.D240H|NTRK3_ENST00000542733.2_Missense_Mutation_p.D142H|NTRK3_ENST00000357724.2_Missense_Mutation_p.D240H|NTRK3_ENST00000557856.1_Missense_Mutation_p.D240H|NTRK3_ENST00000558676.1_Missense_Mutation_p.D240H|NTRK3_ENST00000355254.2_Missense_Mutation_p.D240H|NTRK3_ENST00000360948.2_Missense_Mutation_p.D240H NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 240 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.D240H(3) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CAGTCCACATCAGGAAGGGGT 0.562000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 15 13 0 0 0.028581 0 0 LRGUK 136332 broad.mit.edu 37 7 133881855 133881855 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:133881855G>T ENST00000285928.2 + 13 1612 c.1543G>T c.(1543-1545)Gaa>Taa p.E515* NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 515 Guanylate kinase-like. ATP binding|kinase activity p.E515*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TATGGAAATAGAAGTAAGTGT 0.348000 10 39 1.58986e-06 1.89835e-06 0.069234 1 0 MAST3 23031 broad.mit.edu 37 19 18255441 18255441 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:18255441G>A ENST00000262811.5 + 22 2663 c.2663G>A c.(2662-2664)gGc>gAc p.G888D AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 888 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.G910D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 AGTGGTGGCGGCAGTGGGGGC 0.677000 3 50 0 0 0.004672 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032319 142032319 + RNA SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:142032319G>T ENST00000547918.2 + 0 172 TCCAATTTCAGGTCATAATGC 0.507000 6 8 0.00198382 0.00210554 0.029380 1 0 VASN 114990 broad.mit.edu 37 16 4431769 4431769 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:4431769C>T ENST00000304735.3 + 2 1046 c.891C>T c.(889-891)cgC>cgT p.R297R CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 297 extracellular region|integral to membrane p.R297R(1) breast(1)|lung(3)|prostate(1)|skin(1) 6 CAGCTGCCCGCAACCCCTTCA 0.692000 9 31 0 0 0.080935 0 0 ZNF416 55659 broad.mit.edu 37 19 58084849 58084849 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:58084849C>T ENST00000196489.3 - 4 645 c.423G>A c.(421-423)aaG>aaA p.K141K NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K141K(1) breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CACTATGATGCTTCTGGTCCT 0.517000 24 6 0 0 0.091800 0 0 MYO9A 4649 broad.mit.edu 37 15 72208825 72208825 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:72208825T>C ENST00000356056.5 - 19 3043 c.2571A>G c.(2569-2571)ctA>ctG p.L857L MYO9A_ENST00000444904.1_Silent_p.L838L|MYO9A_ENST00000564571.1_Silent_p.L857L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.L857L|MYO9A_ENST00000566885.1_Silent_p.L477L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 857 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.L857L(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AATTTACTTCTAGCAAGTGCT 0.338000 28 33 0 0 0.108266 0 0 TP53 7157 broad.mit.edu 37 17 7577100 7577100 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:7577100T>C ENST00000420246.2 - 8 970 c.838A>G c.(838-840)Aga>Gga p.R280G TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000269305.4_Missense_Mutation_p.R280G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCCGGTCTCTCCCAGGACAG 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 6 0 0 0.043863 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90670738 90670738 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:90670738C>T ENST00000371927.3 + 5 1348 c.390C>T c.(388-390)aaC>aaT p.N130N STAMBPL1_ENST00000371924.1_Silent_p.N130N|STAMBPL1_ENST00000371926.3_Silent_p.N130N Q96FJ0 STALP_HUMAN STAM binding protein-like 1 130 metal ion binding|metallopeptidase activity|protein binding p.N130N(2) breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) AGAAATATAACGTAGAATACC 0.269000 13 53 0 0 0.020292 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226373 50226373 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:50226373C>A ENST00000284509.6 - 15 1435 c.1294G>T c.(1294-1296)Gag>Tag p.E432* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E432* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 432 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E432*(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCCACAGGCTCTTTTTCCTGT 0.348000 13 37 5.50884e-06 6.41028e-06 0.093190 1 0 COL15A1 1306 broad.mit.edu 37 9 101748161 101748161 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:101748161A>T ENST00000375001.3 + 3 838 c.415A>T c.(415-417)Acg>Tcg p.T139S NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 139 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.T139S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCTCTACTACACGGAGCCAGG 0.612000 14 49 0 0 0.020292 0 0 TRAV25 28658 broad.mit.edu 37 14 22580379 22580379 + RNA SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:22580379C>T ENST00000390454.2 + 0 80 GAGGGAGATGCTACTCATCAC 0.428000 16 64 0 0 0.043863 0 0 MUC16 94025 broad.mit.edu 37 19 9062525 9062525 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:9062525G>A ENST00000397910.4 - 3 25124 c.24921C>T c.(24919-24921)acC>acT p.T8307T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8309 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T8307T(2)|p.T3940T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCTGTCTGTGGTTATCACCA 0.498000 10 35 0 0 0.069234 0 0 ERC1 23085 broad.mit.edu 37 12 1399138 1399138 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:1399138G>C ENST00000397203.2 + 15 3146 c.2740G>C c.(2740-2742)Gca>Cca p.A914P ERC1_ENST00000543086.3_Missense_Mutation_p.A886P|ERC1_ENST00000355446.5_Missense_Mutation_p.A914P|ERC1_ENST00000589028.1_Missense_Mutation_p.A914P|ERC1_ENST00000546231.2_Missense_Mutation_p.A918P|ERC1_ENST00000360905.4_Missense_Mutation_p.A914P Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 914 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding p.A914P(1) NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TAATCTTCGGGCAGAGAGAAG 0.428000 14 95 0 0 0.028581 0 0 BRE 9577 broad.mit.edu 37 2 28521328 28521328 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:28521328G>T ENST00000344773.2 + 11 1196 c.1058G>T c.(1057-1059)tGg>tTg p.W353L BRE_ENST00000379632.2_Missense_Mutation_p.W353L|BRE_ENST00000342045.2_Missense_Mutation_p.W353L|BRE_ENST00000379624.1_Missense_Mutation_p.W353L|BRE_ENST00000361704.2_Missense_Mutation_p.W353L NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 353 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding p.W353F(3) NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) AGCCCCAGATGGGATGGAAAT 0.443000 43 46 1.57019e-19 2.70141e-19 0.098360 1 0 PLCL1 5334 broad.mit.edu 37 2 198950857 198950857 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:198950857T>C ENST00000428675.1 + 2 3014 c.2616T>C c.(2614-2616)taT>taC p.Y872Y PLCL1_ENST00000437704.2_Silent_p.Y774Y NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 872 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.Y872Y(1)|p.Y774Y(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TTCGGGAATATACCATGCTCA 0.408000 23 10 0 0 0.083992 0 0 COL22A1 169044 broad.mit.edu 37 8 139788254 139788254 + Splice_Site SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:139788254C>G ENST00000303045.6 - 16 2205 c.e16-1 COL22A1_ENST00000435777.1_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity p.?(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTGGAGACCCTGGGGGACAA 0.507000 HNSCC(7;0.00092) 18 92 0 0 0.038395 0 0 COL11A1 1301 broad.mit.edu 37 1 103548452 103548452 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:103548452G>T ENST00000358392.2 - 2 500 c.183C>A c.(181-183)tgC>tgA p.C61* COL11A1_ENST00000512756.1_Nonsense_Mutation_p.C61*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.C61*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.C61* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 61 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.C61*(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCTGTTTGTGCAAAATCCCG 0.363000 27 51 1.50538e-07 1.86714e-07 0.030593 1 0 OR13A1 79290 broad.mit.edu 37 10 45799823 45799823 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:45799823G>A ENST00000553795.1 - 4 356 c.48C>T c.(46-48)ccC>ccT p.P16P OR13A1_ENST00000374401.2_Silent_p.P16P|OR13A1_ENST00000536058.1_Silent_p.P16P NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P16P(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TCCTTGGGCTGGGACGGGTTT 0.512000 41 44 0 0 0.111260 0 0 BRINP1 1620 broad.mit.edu 37 9 121976387 121976387 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:121976387C>A ENST00000265922.3 - 6 1193 c.732G>T c.(730-732)caG>caT p.Q244H DBC1_ENST00000373964.2_Missense_Mutation_p.Q244H NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 244 MACPF. cell cycle arrest|cell death cytoplasm protein binding p.Q244H(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TCAAGGCCGACTGGACAAACT 0.473000 6 23 0.0215528 0.0221054 0.021553 1 0 EFHC1 114327 broad.mit.edu 37 6 52343958 52343958 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:52343958G>T ENST00000371068.5 + 8 1505 c.1402G>T c.(1402-1404)Ggc>Tgc p.G468C EFHC1_ENST00000433625.2_Missense_Mutation_p.G377C|EFHC1_ENST00000538167.1_Missense_Mutation_p.G449C NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 468 DM10 3. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding p.G468C(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) CAAGTACCTTGGCAGGACTAA 0.453000 20 81 8.10497e-08 1.02311e-07 0.055883 1 0 ZIC4 84107 broad.mit.edu 37 3 147108946 147108946 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:147108946G>T ENST00000383075.3 - 4 1288 c.776C>A c.(775-777)aCt>aAt p.T259N ZIC4_ENST00000525172.2_Missense_Mutation_p.T309N|ZIC4_ENST00000491672.1_Missense_Mutation_p.T53N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.T297N|ZIC4_ENST00000484399.1_Missense_Mutation_p.T259N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T259N NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 259 nucleus DNA binding|zinc ion binding p.T259N(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CTTGTCGCTAGTGTGCACGTG 0.637000 12 22 3.07112e-06 3.63984e-06 0.080935 1 0 OR51E1 143503 broad.mit.edu 37 11 4674333 4674333 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:4674333G>T ENST00000396952.5 + 2 1227 c.577G>T c.(577-579)Gat>Tat p.D193Y OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D192Y(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGGCCTGTGATGATATCCG 0.498000 23 106 4.22769e-11 5.79384e-11 0.030593 1 0 CACNA1C 775 broad.mit.edu 37 12 2794913 2794913 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:2794913A>T ENST00000399655.1 + 44 5850 c.5585A>T c.(5584-5586)cAg>cTg p.Q1862L CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q1910L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1890L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1933L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1870L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1933L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1868L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1879L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1897L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1881L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1870L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1897L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1887L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1882L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1903L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1881L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1881L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1945 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.Q1897L(1)|p.Q1397L(1)|p.Q1903L(1)|p.Q1910L(1)|p.Q1975L(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCTCCTACCAGGATGACGAA 0.582000 31 18 0 0 0.041601 0 0 RICTOR 253260 broad.mit.edu 37 5 38963016 38963016 + Nonsense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:38963016G>A ENST00000357387.3 - 17 1558 c.1528C>T c.(1528-1530)Cag>Tag p.Q510* RICTOR_ENST00000296782.5_Nonsense_Mutation_p.Q510* NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 510 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding p.Q510*(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CGGAGATACTGATCCCGTTTC 0.363000 33 74 0 0 0.086207 0 0 C11orf52 91894 broad.mit.edu 37 11 111796798 111796798 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:111796798G>A ENST00000278601.5 + 4 343 c.247G>A c.(247-249)Gtg>Atg p.V83M HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR NM_080659.2 NP_542390.2 Q96A22 CK052_HUMAN chromosome 11 open reading frame 52 83 p.V83M(1) lung(2)|ovary(1) 3 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) TGACATTCAAGTGTGCAGCCG 0.527000 19 12 0 0 0.062417 0 0 LPA 4018 broad.mit.edu 37 6 160998325 160998325 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:160998325G>T ENST00000447678.1 - 29 4594 c.4474C>A c.(4474-4476)Cca>Aca p.P1492T LPA_ENST00000316300.5_Missense_Mutation_p.P1492T NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4000 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.P1492T(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTCTCAGGTGGTGCTGAAATT 0.433000 27 14 1.5548e-18 2.6049e-18 0.108266 1 0 ZNF449 203523 broad.mit.edu 37 X 134494750 134494750 + Silent SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:134494750A>C ENST00000339249.4 + 5 1446 c.1306A>C c.(1306-1308)Aga>Cga p.R436R NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 436 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R436R(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AAAACCTCATAGATGTCATAA 0.353000 50 16 0 0 0.048971 0 0 REG1A 5967 broad.mit.edu 37 2 79348687 79348687 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:79348687G>T ENST00000233735.1 + 3 167 c.e3-1 NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.?(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TTCTTTTTCAGGCCAAGAGGC 0.493000 55 176 1.1362e-29 2.12622e-29 0.048971 1 0 SLC36A3 285641 broad.mit.edu 37 5 150657056 150657056 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:150657056G>A ENST00000335230.3 - 10 1722 c.1311C>T c.(1309-1311)atC>atT p.I437I SLC36A3_ENST00000377713.3_Silent_p.I478I NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 437 integral to membrane p.I437I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGGCCCACGATGCTAATCA 0.522000 35 49 0 0 0.059317 0 0 LPAR6 10161 broad.mit.edu 37 13 48986493 48986493 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:48986493T>A ENST00000378434.4 - 7 1691 c.67A>T c.(67-69)Atg>Ttg p.M23L RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M23L NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 23 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4)|p.C22_M23>*(1) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 ATGCTGAACATGCACCCATAC 0.403000 26 24 0 0 0.108266 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075801 145075801 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:145075801C>G ENST00000369359.4 - 1 100 c.62G>C c.(61-63)cGc>cCc p.R21P PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21P|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R21P Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R21P(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCGGGACGCGCGACAGCAGCA 0.701000 T PDGFRB MPD 7 75 0 0 0.047766 0 0 USP43 124739 broad.mit.edu 37 17 9613391 9613391 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:9613391G>T ENST00000570827.2 + 13 2271 c.1197G>T c.(1195-1197)cgG>cgT p.R399R USP43_ENST00000285199.6_Silent_p.R710R|USP43_ENST00000570475.1_Silent_p.R705R Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 710 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R711R(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 ATCAGAAGCGGAACAGCATCC 0.542000 24 10 1.64293e-13 2.39517e-13 0.083992 1 0 OR4C46 119749 broad.mit.edu 37 11 51516152 51516152 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:51516152C>A ENST00000328188.1 + 1 871 c.871C>A c.(871-873)Cag>Aag p.Q291K NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q291K(1) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAAGAATGCCCAGATGAAAAA 0.358000 5 37 4.68919e-08 5.99018e-08 0.069234 1 0 GPR37 2861 broad.mit.edu 37 7 124404849 124404849 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:124404849T>A ENST00000303921.2 - 1 832 c.182A>T c.(181-183)aAt>aTt p.N61I NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 61 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity p.N61I(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCTTGCAGAATTTCCCGGTCC 0.687000 21 14 0 0 0.062417 0 0 LPO 4025 broad.mit.edu 37 17 56343529 56343529 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:56343529T>A ENST00000262290.4 + 11 1851 c.1535T>A c.(1534-1536)cTg>cAg p.L512Q LPO_ENST00000543544.1_Missense_Mutation_p.L453Q|LPO_ENST00000582328.1_Missense_Mutation_p.L429Q|LPO_ENST00000421678.2_Missense_Mutation_p.L429Q NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 512 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.L512Q(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 ATTGATCCTCTGGTGCGGGGC 0.527000 10 4 0 0 0.069234 0 0 EPHA4 2043 broad.mit.edu 37 2 222298988 222298988 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:222298988C>A ENST00000281821.2 - 14 2411 c.2370G>T c.(2368-2370)tgG>tgT p.W790C EPHA4_ENST00000392071.4_Missense_Mutation_p.W739C|EPHA4_ENST00000409938.1_Missense_Mutation_p.W790C|EPHA4_ENST00000409854.1_Missense_Mutation_p.W790C NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 790 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.W790C(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTGGCGCAGTCCACCGGATAG 0.448000 23 73 9.86323e-18 1.61444e-17 0.091800 1 0 OR9A4 130075 broad.mit.edu 37 7 141619191 141619191 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:141619191T>C ENST00000548136.1 + 1 575 c.516T>C c.(514-516)aaT>aaC p.N172N MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N172N(1) NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GCAAATCAAATGTGGTGAACA 0.393000 39 88 0 0 0.092188 0 0 DKKL1 27120 broad.mit.edu 37 19 49877992 49877992 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:49877992A>G ENST00000221498.2 + 5 841 c.436A>G c.(436-438)Aag>Gag p.K146E DKKL1_ENST00000594268.1_Missense_Mutation_p.K4E|AC010524.2_ENST00000599433.1_RNA NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 146 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity p.K146E(1) large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) GATGGAGGAGAAGGAGGCCCT 0.592000 37 21 0 0 0.098360 0 0 KRT1 3848 broad.mit.edu 37 12 53071971 53071971 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:53071971C>T ENST00000252244.3 - 3 901 c.843G>A c.(841-843)gaG>gaA p.E281E NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 281 Coil 1B.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.E281E(1)|p.E281D(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CAAATTCATTCTCTGCATTTG 0.403000 27 11 0 0 0.054565 0 0 KCNA5 3741 broad.mit.edu 37 12 5154280 5154280 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:5154280C>A ENST00000252321.3 + 1 1196 c.967C>A c.(967-969)Ccc>Acc p.P323T NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 323 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P323T(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CCTGGCCGACCCCTTCTTCAT 0.697000 23 105 1.22574e-08 1.59446e-08 0.069288 1 0 LPAR6 10161 broad.mit.edu 37 13 48986494 48986494 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:48986494G>T ENST00000378434.4 - 7 1690 c.66C>A c.(64-66)tgC>tgA p.C22* RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Nonsense_Mutation_p.C22* NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 22 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4)|p.C22_M23>*(1) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 TGCTGAACATGCACCCATACA 0.408000 27 24 1.77063e-15 2.77746e-15 0.108266 1 0 SPAG11A 653423 broad.mit.edu 37 8 7718286 7718286 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:7718286G>T ENST00000326625.5 + 2 227 c.174G>T c.(172-174)agG>agT p.R58S SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000454911.2_3'UTR sperm associated antigen 11A central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CCTGGAATAGGTGTTGCGTAT 0.438000 7 30 1.12685e-05 1.29477e-05 0.047766 1 0 DOCK10 55619 broad.mit.edu 37 2 225761065 225761065 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:225761065A>G ENST00000409592.3 - 4 458 c.345T>C c.(343-345)caT>caC p.H115H DOCK10_ENST00000258390.7_Silent_p.H121H|DOCK10_ENST00000474102.1_5'UTR Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 121 GTP binding p.H121H(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGTTTACCACATGCCACTGGG 0.368000 7 6 0 0 0.038147 0 0 TSC1 7248 broad.mit.edu 37 9 135781222 135781222 + Silent SNP G G A rs118203568 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:135781222G>A ENST00000298552.3 - 15 1964 c.1743C>T c.(1741-1743)ttC>ttT p.F581F TSC1_ENST00000440111.2_Silent_p.F581F|TSC1_ENST00000545250.1_Silent_p.F530F NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 581 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.F581F(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GACTGGGAGTGAAGATACTGG 0.537000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 22 0 0 0.058154 0 0 KIF1A 547 broad.mit.edu 37 2 241712631 241712631 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:241712631G>T ENST00000498729.2 - 13 1326 c.1080C>A c.(1078-1080)atC>atA p.I360I KIF1A_ENST00000320389.7_Silent_p.I360I NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 360 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.I360I(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTCCTCATTGATGACAGCAT 0.617000 12 35 0.000978159 0.00105926 0.080935 1 0 CELSR2 1952 broad.mit.edu 37 1 109813107 109813107 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:109813107G>T ENST00000271332.3 + 24 7429 c.7368G>T c.(7366-7368)tgG>tgT p.W2456C NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2456 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.W2456C(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCTTTTCCTGGGCTCTGCTGG 0.647000 15 39 8.00594e-06 9.2991e-06 0.043863 1 0 TBR1 10716 broad.mit.edu 37 2 162274207 162274207 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:162274207G>C ENST00000389554.3 + 2 1030 c.713G>C c.(712-714)aGt>aCt p.S238T NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 238 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.S238T(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCTTTTTTAAGTTTTAACATT 0.398000 60 72 0 0 0.048971 0 0 ATG4D 84971 broad.mit.edu 37 19 10657598 10657598 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:10657598C>T ENST00000309469.4 + 4 750 c.577C>T c.(577-579)Cgc>Tgc p.R193C ATG4D_ENST00000540862.1_Intron NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 193 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity p.R193C(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGGGCCTGCCCGCTGGATGCC 0.716000 20 3 0 0 0.055883 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473707 53473707 + RNA SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:53473707G>T ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA AAATTCTTTGGGATGCTGAAA 0.363000 38 3 4.65686e-17 7.50729e-17 0.064281 1 0 MYO3A 53904 broad.mit.edu 37 10 26436361 26436361 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:26436361C>T ENST00000265944.5 + 23 2674 c.2508C>T c.(2506-2508)gtC>gtT p.V836V MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 836 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.V836V(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATCAACAGGTCCTCTATAATG 0.398000 24 17 0 0 0.083992 0 0 KIAA0368 23392 broad.mit.edu 37 9 114156013 114156013 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:114156013G>T ENST00000259335.4 - 28 3457 c.3456_splice c.e28-1 p.S1153_splice KIAA0368_ENST00000338205.5_Splice_Site_p.S975_splice|KIAA0368_ENST00000374378.3_5'UTR NM_001080398.1 NP_001073867.1 KIAA0368 p.S1153Y(1) NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TTTAAGATGAGACTGAAAGAA 0.303000 5 23 0.000602214 0.000655471 0.014758 1 0 NELL1 4745 broad.mit.edu 37 11 20939797 20939797 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:20939797C>A ENST00000298925.5 + 7 910 c.757C>A c.(757-759)Cac>Aac p.H253N NELL1_ENST00000357134.5_Missense_Mutation_p.H225N|NELL1_ENST00000325319.5_Missense_Mutation_p.H168N|NELL1_ENST00000532434.1_Missense_Mutation_p.H225N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 225 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AAATCTAAATCACAGTAAGTA 0.348000 19 111 1.64293e-13 2.39517e-13 0.083992 1 0 CAMKV 79012 broad.mit.edu 37 3 49896879 49896879 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:49896879G>T ENST00000477224.1 - 11 1856 c.1378C>A c.(1378-1380)Cct>Act p.P460T CAMKV_ENST00000488336.1_Missense_Mutation_p.P429T|CAMKV_ENST00000466940.1_Missense_Mutation_p.P386T|CAMKV_ENST00000467248.1_Missense_Mutation_p.P385T|CAMKV_ENST00000463537.1_Silent_p.P391P|CAMKV_ENST00000296471.7_Missense_Mutation_p.P432T Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 460 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity p.P460T(1) central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCGGCTCAGGGGTGGCAGCT 0.642000 40 64 5.1965e-05 5.85522e-05 0.098360 1 0 ELOVL2 54898 broad.mit.edu 37 6 10995395 10995395 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:10995395C>A ENST00000354666.3 - 5 433 c.350G>T c.(349-351)tGg>tTg p.W117L NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 117 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.W117L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) ATAGTACCACCAAAGCACCTT 0.438000 19 26 3.8784e-16 6.14401e-16 0.062417 1 0 RELN 5649 broad.mit.edu 37 7 103322703 103322703 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103322703G>T ENST00000428762.1 - 11 1308 c.1149C>A c.(1147-1149)agC>agA p.S383R RELN_ENST00000343529.5_Missense_Mutation_p.S383R|RELN_ENST00000424685.2_Missense_Mutation_p.S383R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 383 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S383R(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGACTGACAGCTATGCTGTA 0.408000 17 58 3.99206e-14 5.98341e-14 0.043863 1 0 APOB 338 broad.mit.edu 37 2 21229598 21229598 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:21229598A>G ENST00000233242.1 - 26 10269 c.10142T>C c.(10141-10143)tTa>tCa p.L3381S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3381 LDL receptor binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.L3381S(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTGCCCTCTAATTTGTACTG 0.408000 58 61 0 0 0.048971 0 0 ADAD2 161931 broad.mit.edu 37 16 84230345 84230345 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:84230345T>G ENST00000268624.3 + 10 1958 c.1865T>G c.(1864-1866)cTg>cGg p.L622R RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.L540R|RP11-486L19.2_ENST00000569834.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 540 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding p.L622R(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CCCTACCTCCTGGCCTTGAAG 0.687000 9 53 0 0 0.047766 0 0 ACACB 32 broad.mit.edu 37 12 109680382 109680382 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:109680382G>T ENST00000338432.7 + 37 5282 c.5163G>T c.(5161-5163)ccG>ccT p.P1721P ACACB_ENST00000377848.3_Silent_p.P1721P|ACACB_ENST00000543201.1_Silent_p.P387P|ACACB_ENST00000377854.5_Silent_p.P1651P O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1721 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.P387P(1)|p.P1721P(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ATGACTTCCCGGAAATGTTCA 0.577000 34 12 4.3181e-19 7.34996e-19 0.054565 1 0 PRIM2 5558 broad.mit.edu 37 6 57398234 57398234 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:57398234C>A ENST00000607273.1 + 10 1024 c.937C>A c.(937-939)Ctg>Atg p.L313M PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 313 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding p.L313M(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TGTCCTATTTCTGAAGGGCAT 0.388000 22 96 2.32416e-17 3.77528e-17 0.069288 1 0 CDC73 79577 broad.mit.edu 37 1 193218922 193218922 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:193218922G>T ENST00000367435.3 + 16 1664 c.1480G>T c.(1480-1482)Gta>Tta p.V494L CDC73_ENST00000477868.1_3'UTR NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 494 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding p.V494L(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 GAAATGGGATGTAACAGTATT 0.373000 19 44 1.96292e-10 2.66159e-10 0.055883 1 0 AFMID 125061 broad.mit.edu 37 17 76198623 76198623 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:76198623C>T ENST00000409257.5 + 3 252 c.198C>T c.(196-198)gtC>gtT p.V66V AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Silent_p.V66V|AFMID_ENST00000588800.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 66 cytosol|nucleus arylformamidase activity p.V66V(1) autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) TGCTGCATGTCCCCTATGGAG 0.592000 12 51 0 0 0.028581 0 0 ADGRG6 57211 broad.mit.edu 37 6 142630733 142630733 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:142630733C>T ENST00000230173.6 + 2 531 c.55C>T c.(55-57)Cct>Tct p.P19S GPR126_ENST00000296932.8_Missense_Mutation_p.P19S|GPR126_ENST00000367608.2_Missense_Mutation_p.P19S|GPR126_ENST00000367609.3_Missense_Mutation_p.P19S|GPR126_ENST00000545477.1_3'UTR NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P19S(1)|p.P18S(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GAAGCCCAGTCCTCTCCTGTT 0.413000 3 4 0 0 0.004672 0 0 ARHGAP25 9938 broad.mit.edu 37 2 68962337 68962337 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:68962337C>T ENST00000295381.3 + 1 425 c.6C>T c.(4-6)tcC>tcT p.S2S ARHGAP25_ENST00000467265.1_Silent_p.S2S|ARHGAP25_ENST00000409202.3_Silent_p.S2S|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Intron NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 2 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.S2S(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GCAAAATGTCCCTAAAATTGC 0.433000 12 57 0 0 0.080935 0 0 SPTA1 6708 broad.mit.edu 37 1 158615096 158615096 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:158615096C>A ENST00000368148.3 - 29 4256 c.4076G>T c.(4075-4077)gGg>gTg p.G1359V SPTA1_ENST00000368147.3_Missense_Mutation_p.G1359V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1359 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G1359V(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCATGGTGCCCACTGTCGAT 0.502000 25 50 1.64293e-13 2.39517e-13 0.083992 1 0 LY75 4065 broad.mit.edu 37 2 160697335 160697335 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:160697335G>T ENST00000263636.4 - 25 3439 c.3412C>A c.(3412-3414)Ctg>Atg p.L1138M LY75_ENST00000553424.1_Missense_Mutation_p.L1138M|LY75_ENST00000554112.1_Missense_Mutation_p.L1138M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1138M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1138M NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.L1138M(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) ATGCTCACCAGCTGCATGTTA 0.443000 51 60 2.52991e-16 4.02771e-16 0.048971 1 0 LILRB5 10990 broad.mit.edu 37 19 54760174 54760174 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:54760174C>A ENST00000450632.1 - 4 437 c.360G>T c.(358-360)ctG>ctT p.L120L LILRB5_ENST00000449561.2_Silent_p.L129L|LILRB5_ENST00000316219.5_Silent_p.L129L|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 129 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity p.L120L(1)|p.L129L(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGACTCGGCAGGGCTAAAA 0.552000 45 10 3.70713e-34 7.08228e-34 0.048971 1 0 TRPM6 140803 broad.mit.edu 37 9 77377235 77377235 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:77377235C>A ENST00000451710.3 - 26 4589 c.4352G>T c.(4351-4353)gGa>gTa p.G1451V TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1446V|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1451V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1446V|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1451V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1451 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.G1451V(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTTTACATATCCACCTCCAGT 0.478000 27 29 8.58068e-18 1.40811e-17 0.034045 1 0 OVCH1 341350 broad.mit.edu 37 12 29617627 29617627 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:29617627C>T ENST00000318184.5 - 18 1937 c.1938G>A c.(1936-1938)agG>agA p.R646R OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 646 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.R646R(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGTGTTTGGCCCTTCTCACCT 0.403000 72 24 0 0 0.048971 0 0 KRT23 25984 broad.mit.edu 37 17 39092632 39092632 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:39092632G>T ENST00000209718.3 - 2 648 c.224C>A c.(223-225)aCc>aAc p.T75N KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 75 Coil 1A.|Rod. intermediate filament structural molecule activity p.T75N(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) ATTCTGCATGGTGGCCTTCCC 0.617000 77 24 4.18771e-30 7.906e-30 0.048971 1 0 GPBP1L1 60313 broad.mit.edu 37 1 46120390 46120390 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:46120390C>A ENST00000355105.3 - 6 1662 c.302G>T c.(301-303)cGa>cTa p.R101L GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R101L NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R101L(1) GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) ATCATGACCTCGGGAAGAGCT 0.552000 9 19 0.0581538 0.0588899 0.058154 1 0 SPDEF 25803 broad.mit.edu 37 6 34512074 34512074 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:34512074C>A ENST00000374037.3 - 2 573 c.159G>T c.(157-159)caG>caT p.Q53H SPDEF_ENST00000544425.1_Missense_Mutation_p.Q53H NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 53 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q53H(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CGGACAGGCCCTGCTCGGGCG 0.682000 16 16 2.4624e-09 3.24935e-09 0.049695 1 0 MKRN3 7681 broad.mit.edu 37 15 23812161 23812161 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:23812161C>A ENST00000314520.3 + 1 1708 c.1232C>A c.(1231-1233)cCa>cAa p.P411Q MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 411 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.P411Q(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGTAACTGCCCATTTGGAGAC 0.522000 9 43 0.0581538 0.0588899 0.058154 1 0 XXYLT1 152002 broad.mit.edu 37 3 194991426 194991426 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:194991426G>T ENST00000310380.6 - 1 470 c.362C>A c.(361-363)gCg>gAg p.A121E NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 121 integral to membrane transferase activity, transferring glycosyl groups p.A121E(1) TGAGCGCAGCGCGACGCGGGC 0.682000 7 17 3.09899e-07 3.79226e-07 0.047766 1 0 HOXA6 3203 broad.mit.edu 37 7 27185361 27185361 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:27185361G>C ENST00000222728.3 - 2 642 c.618C>G c.(616-618)cgC>cgG p.R206R HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 206 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R206R(1) central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 ACTTCATGCGGCGGTTCTGGA 0.602000 43 118 0 0 0.111260 0 0 TSSC2 650368 broad.mit.edu 37 11 3424847 3424847 + RNA SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:3424847G>T ENST00000529482.1 + 0 845 ACTCTTGATGGACACAACCTT 0.453000 50 32 6.176e-18 1.024e-17 0.048971 1 0 PTTG2 10744 broad.mit.edu 37 4 37962455 37962455 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:37962455C>G ENST00000504686.1 + 1 400 c.400C>G c.(400-402)Cgc>Ggc p.R134G TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron NM_006607.2 NP_006598.2 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 134 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding p.R134G(1) breast(1)|endometrium(1)|lung(4)|skin(1) 7 GCCTGAAGAGCGCCAGATTGC 0.483000 19 55 0 0 0.043863 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898788 48898788 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:48898788C>T ENST00000394754.1 + 10 3524 c.3410C>T c.(3409-3411)aCg>aTg p.T1137M STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1137M|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T399M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1137M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1090M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1137M|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T433M NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1090 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.T82M(2)|p.T1137M(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTGTTTGACACGGATAATGTT 0.343000 46 74 0 0 0.048971 0 0 LAMB4 22798 broad.mit.edu 37 7 107696229 107696229 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:107696229A>G ENST00000388781.3 - 25 3686 c.3603T>C c.(3601-3603)gcT>gcC p.A1201A LAMB4_ENST00000388780.3_Silent_p.A1201A|LAMB4_ENST00000205386.4_Silent_p.A1201A NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1201 Domain II. cell adhesion basement membrane p.A1201A(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTTCCATGTTAGCAGCCAGTC 0.458000 13 43 0 0 0.020292 0 0 MARCH11 441061 broad.mit.edu 37 5 16177991 16177991 + Splice_Site SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:16177991C>T ENST00000332432.8 - 2 737 c.e2-1 MARCH11_ENST00000505509.1_Splice_Site NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding p.?(1) NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 ACAACTCACCCTAAAAAGAAA 0.428000 5 15 0 0 0.014758 0 0 S1PR3 1903 broad.mit.edu 37 9 91616117 91616117 + Translation_Start_Site SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:91616117T>A ENST00000375846.3 + 1 4697 c.2T>A c.(1-3)aTg>aAg p.M1K S1PR3_ENST00000358157.2_Start_Codon_SNP_p.M1K Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 1 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity p.M1K(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 TGCCAAGTGATGGCAACTGCC 0.607000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 53 0 0 0.055883 0 0 TDRD5 163589 broad.mit.edu 37 1 179561783 179561783 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:179561783G>T ENST00000444136.1 + 2 283 c.33G>T c.(31-33)ctG>ctT p.L11L TDRD5_ENST00000367614.1_Silent_p.L11L|TDRD5_ENST00000294848.8_Silent_p.L11L NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 11 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.L11L(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGGAATGTCTGCGGAAGGAAA 0.468000 32 50 7.16026e-08 9.07439e-08 0.050027 1 0 LGALS2 3957 broad.mit.edu 37 22 37966684 37966684 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:37966684A>T ENST00000215886.4 - 3 322 c.148T>A c.(148-150)Ttc>Atc p.F50I NM_006498.2 NP_006489.1 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 50 Galectin. p.F50I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) GATTCGCTGAAGCGAGGGTTG 0.552000 45 51 0 0 0.048971 0 0 VWA8 23078 broad.mit.edu 37 13 42142415 42142415 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:42142415C>A ENST00000379310.3 - 45 5704 c.5636G>T c.(5635-5637)cGg>cTg p.R1879L NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 p.R1879L(1) AACGAAAGACCGACCAGCTGG 0.502000 10 29 1.08611e-07 1.35763e-07 0.080935 1 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927856 13927856 + RNA SNP T T C rs148981647 by1000genomes TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:13927856T>C ENST00000602743.1 - 0 224 TTCTCCACTTTGAGAGGTTGC 0.542000 3 4 0 0 0.047766 0 0 PIWIL3 440822 broad.mit.edu 37 22 25123945 25123945 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:25123945C>T ENST00000332271.5 - 16 2424 c.2008G>A c.(2008-2010)Gtt>Att p.V670I PIWIL3_ENST00000527701.1_Missense_Mutation_p.V552I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V552I NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 670 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding p.V670I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTACTTGCAACAAATCCTGCT 0.343000 21 27 0 0 0.062417 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48134736 48134736 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:48134736T>A ENST00000405493.2 - 20 2094 c.1885A>T c.(1885-1887)Acg>Tcg p.T629S RAPGEF3_ENST00000449771.2_Missense_Mutation_p.T671S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.T671S|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.T629S|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.T580S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.T629S NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 629 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity p.T629S(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TCGTGGTCCGTCAGCTGGCCT 0.682000 9 10 0 0 0.058154 0 0 ULK4 54986 broad.mit.edu 37 3 41504603 41504603 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:41504603G>C ENST00000301831.4 - 33 3830 c.3368C>G c.(3367-3369)tCc>tGc p.S1123C NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 1123 ATP binding|protein serine/threonine kinase activity p.S1123C(1)|p.S275C(1) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TACAATACCGGAGGTATAGGT 0.453000 30 62 0 0 0.041601 0 0 CACNG8 59283 broad.mit.edu 37 19 54485474 54485474 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:54485474G>C ENST00000270458.2 + 4 752 c.649G>C c.(649-651)Gag>Cag p.E217Q NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 217 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.E217Q(1) kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CATCCTGGCCGAGGTGATAGG 0.672000 17 1 0 0 0.033300 0 0 DVL3 1857 broad.mit.edu 37 3 183888495 183888495 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:183888495C>T ENST00000313143.3 + 15 2351 c.2103C>T c.(2101-2103)ttC>ttT p.F701F DVL3_ENST00000431765.1_Silent_p.F684F|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 701 PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199). canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity p.F701F(1) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GACAGTCCTTCCGCATGGCCA 0.701000 11 6 0 0 0.093190 0 0 LEPR 3953 broad.mit.edu 37 1 66102113 66102113 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:66102113G>T ENST00000349533.6 + 20 3098 c.2913G>T c.(2911-2913)gaG>gaT p.E971D LEPR_ENST00000406510.3_Missense_Mutation_p.E38D NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 971 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity p.E971D(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGGGTACTGAGGTAACCTATG 0.438000 22 170 2.27731e-05 2.58877e-05 0.062417 1 0 API5 8539 broad.mit.edu 37 11 43348161 43348161 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:43348161G>T ENST00000378852.3 + 7 980 c.855_splice c.e7+1 p.E285_splice API5_ENST00000531273.1_Splice_Site_p.E285_splice|API5_ENST00000420461.2_Splice_Site_p.E231_splice|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Splice_Site_p.E285_splice|API5_ENST00000455725.2_Splice_Site_p.E274_splice NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 285 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding p.E285D(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 TACAGTTGGAGGTAAGCAAAA 0.388000 26 82 9.39395e-14 1.38848e-13 0.030593 1 0 RAET1K 646024 broad.mit.edu 37 6 150322629 150322629 + RNA SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:150322629C>A ENST00000533735.1 - 0 247 NR_024045.1 TTTGTTCTTCCCAGGTTTTTG 0.438000 22 9 1.55795e-14 2.35718e-14 0.062417 1 0 PPP1R21 129285 broad.mit.edu 37 2 48688331 48688331 + Silent SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:48688331C>G ENST00000294952.8 + 7 811 c.654C>G c.(652-654)tcC>tcG p.S218S PPP1R21_ENST00000449090.2_Silent_p.S218S|PPP1R21_ENST00000281394.4_Silent_p.S218S NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 218 p.S218S(2) endometrium(2)|kidney(4)|lung(9) 15 TAGAGGAATCCTTATCAATCA 0.308000 18 29 0 0 0.043863 0 0 TMC1 117531 broad.mit.edu 37 9 75357402 75357402 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:75357402G>T ENST00000297784.5 + 10 1036 c.496G>T c.(496-498)Gcg>Tcg p.A166S TMC1_ENST00000396237.3_Missense_Mutation_p.A166S|TMC1_ENST00000340019.3_Missense_Mutation_p.A166S NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 166 Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane p.A166S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CTTCAAAGCTGCGTGTGTCCC 0.368000 15 21 1.15088e-07 1.43579e-07 0.028581 1 0 SERPINA3 12 broad.mit.edu 37 14 95088785 95088785 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:95088785A>G ENST00000553947.1 + 7 1988 c.1100A>G c.(1099-1101)gAc>gGc p.D367G SERPINA3_ENST00000467132.1_Missense_Mutation_p.D342G|SERPINA3_ENST00000482740.1_Missense_Mutation_p.D124G|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D342G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.D342G P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 342 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.D342G(1) NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGCAAGGCTGACCTGTCAGGG 0.507000 72 6 0 0 0.048971 0 0 CFHR4 10877 broad.mit.edu 37 1 196887425 196887425 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:196887425A>T ENST00000367416.2 + 10 1760 c.1623A>T c.(1621-1623)acA>acT p.T541T CFHR4_ENST00000367418.1_Silent_p.T295T|CFHR4_ENST00000251424.4_Silent_p.T295T|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.T295T(1)|p.T541T(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ATGCAAAAACAGGGGATACCA 0.313000 29 38 0 0 0.030593 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890583 15890583 + RNA SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:15890583G>T ENST00000587443.2 - 0 214 NR_033864.1 TACTGAAGGCGGCGGCAGTTG 0.612000 16 4 1.77063e-15 2.77746e-15 0.108266 1 0 IGLV3-16 28799 broad.mit.edu 37 22 23090224 23090224 + RNA SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:23090224C>T ENST00000390311.2 + 0 201 TTATTGGTACCAGCAGAAGCC 0.537000 9 42 0 0 0.058154 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963787 148963787 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:148963787G>T ENST00000434415.1 + 2 549 c.386G>T c.(385-387)cGg>cTg p.R129L NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 129 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.R129L(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) TGGATCTTGCGGCTGCCCCCG 0.672000 26 88 4.87955e-14 7.27952e-14 0.108266 1 0 TMEM82 388595 broad.mit.edu 37 1 16070900 16070900 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:16070900G>T ENST00000375782.1 + 4 720 c.582G>T c.(580-582)ctG>ctT p.L194L TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 194 Leu-rich. integral to membrane p.L194L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGGCCTGCTGGCCCATGCAC 0.701000 4 3 0.00909568 0.00940426 0.009096 1 0 SLA 6503 broad.mit.edu 37 8 134050794 134050794 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:134050794G>T ENST00000338087.5 - 9 1625 c.806C>A c.(805-807)tCa>tAa p.S269* SLA_ENST00000517648.1_Nonsense_Mutation_p.S242*|SLA_ENST00000427060.2_Nonsense_Mutation_p.S309*|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.S286*|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Nonsense_Mutation_p.S161* NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 269 SLA C-terminal. endosome SH3/SH2 adaptor activity p.S309*(1)|p.S269*(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) AGGTGGTGATGAGAAGAATGA 0.468000 62 155 3.86002e-21 6.80554e-21 0.048971 1 0 AHCY 191 broad.mit.edu 37 20 32878141 32878141 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:32878141C>T ENST00000538132.1 - 8 1271 c.885G>A c.(883-885)ccG>ccA p.P295P AHCY_ENST00000217426.2_Silent_p.P323P NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 323 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding p.P323P(1) endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TTCTCACCTGCGGCTTGATGT 0.567000 35 53 0 0 0.098360 0 0 WT1 7490 broad.mit.edu 37 11 32414272 32414272 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:32414272C>A ENST00000332351.3 - 8 1563 c.1279G>T c.(1279-1281)Gac>Tac p.D427Y WT1_ENST00000379079.2_Missense_Mutation_p.D215Y|WT1_ENST00000448076.3_Missense_Mutation_p.D427Y|WT1_ENST00000530998.1_Missense_Mutation_p.D198Y NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 359 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.D215Y(1)|p.D359Y(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CGTTCACAGTCCTTGAAGTCA 0.443000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 8 46 0.00307968 0.00325247 0.038147 1 0 CCDC87 55231 broad.mit.edu 37 11 66359007 66359007 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:66359007C>A ENST00000333861.3 - 1 1547 c.1480G>T c.(1480-1482)Gtc>Ttc p.V494F NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 494 p.V494F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TCCTTGTAGACCTCCCTGGTA 0.488000 84 76 1.02218e-41 2.01291e-41 0.048971 1 0 COL11A1 1301 broad.mit.edu 37 1 103491782 103491782 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:103491782G>C ENST00000370096.3 - 6 1199 c.887C>G c.(886-888)gCa>gGa p.A296G COL11A1_ENST00000512756.1_Missense_Mutation_p.A296G|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron NM_001854.3 NP_001845.3 P12107 COBA1_HUMAN collagen, type XI, alpha 1 296 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.A296G(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCCGTCTGTGCTATTGTCTC 0.443000 16 37 0 0 0.028581 0 0 SP140 11262 broad.mit.edu 37 2 231090583 231090583 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:231090583G>T ENST00000392045.3 + 1 138 c.24G>T c.(22-24)ggG>ggT p.G8G SP140_ENST00000373645.3_Silent_p.G8G|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000417495.3_Silent_p.G8G|SP140_ENST00000343805.6_Silent_p.G8G|SP140_ENST00000420434.3_Silent_p.G8G|SP140_ENST00000486687.2_Silent_p.G8G NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 8 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G8G(2) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCCAGCAGGGGCAGATGGCAA 0.547000 15 10 4.7546e-09 6.22279e-09 0.028581 1 0 CHEK2P2 646096 broad.mit.edu 37 15 20488833 20488833 + RNA SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:20488833G>C ENST00000555186.1 + 0 316 NR_038836.1 CTTGGCTCCTGAAGTTCTTGT 0.418000 16 109 0 0 0.024245 0 0 C1orf87 127795 broad.mit.edu 37 1 60538214 60538214 + Silent SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:60538214T>A ENST00000371201.3 - 2 209 c.102A>T c.(100-102)ccA>ccT p.P34P C1orf87_ENST00000450089.2_Silent_p.P34P NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 34 calcium ion binding p.P34P(1) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTTACATCTTTGGCTTCTCCA 0.363000 20 176 0 0 0.055883 0 0 OR6C2 341416 broad.mit.edu 37 12 55846340 55846340 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:55846340G>T ENST00000322678.1 + 1 343 c.343G>T c.(343-345)Gcc>Tcc p.A115S RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A115S(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TCTCTTGGCAGCCATGTCCTA 0.413000 94 37 8.47766e-36 1.63425e-35 0.048971 1 0 AGAP3 116988 broad.mit.edu 37 7 150839674 150839674 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:150839674G>C ENST00000397238.2 + 16 2226 c.2226G>C c.(2224-2226)tgG>tgC p.W742C AGAP3_ENST00000463381.1_Missense_Mutation_p.W411C NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 706 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding p.W742C(1) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACAGCGTCTGGGAGGGGGCCT 0.662000 13 16 0 0 0.105934 0 0 GABRB1 2560 broad.mit.edu 37 4 47405585 47405585 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:47405585C>A ENST00000295454.3 + 7 984 c.692C>A c.(691-693)cCa>cAa p.P231Q GABRB1_ENST00000538619.1_Missense_Mutation_p.P161Q NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 231 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.P231Q(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGAGCGTATCCACGACTGTCA 0.413000 35 28 1.30998e-17 2.13875e-17 0.080422 1 0 SLC9C2 284525 broad.mit.edu 37 1 173476059 173476059 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:173476059A>C ENST00000367714.3 - 25 3583 c.3161T>G c.(3160-3162)gTa>gGa p.V1054G SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 1054 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity p.V1054G(1) AGTATCAATTACACTGCCATA 0.338000 24 55 0 0 0.091800 0 0 POLA1 5422 broad.mit.edu 37 X 24767091 24767091 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:24767091G>A ENST00000379068.3 + 26 2989 c.2946G>A c.(2944-2946)gtG>gtA p.V982V POLA1_ENST00000379059.3_Silent_p.V976V P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 976 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding p.V976V(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) CTGCCTTGGTGACATACAAAG 0.408000 27 9 0 0 0.034045 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762522 92762522 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:92762522G>A ENST00000318238.4 - 5 3979 c.2763C>T c.(2761-2763)ctC>ctT p.L921L SAMD9L_ENST00000437805.1_Silent_p.L921L|SAMD9L_ENST00000411955.1_Silent_p.L921L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 921 p.L921L(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGAAGGAAATGAGTTGTGCTT 0.358000 17 20 0 0 0.043863 0 0 FREM2 341640 broad.mit.edu 37 13 39430390 39430390 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:39430390G>T ENST00000280481.7 + 12 7269 c.7053G>T c.(7051-7053)atG>atT p.M2351I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2351 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.M2351I(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TAGCAGAGATGCAGGTAAGTA 0.398000 8 33 0.00448238 0.00471055 0.047766 1 0 AHSG 197 broad.mit.edu 37 3 186333533 186333533 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:186333533G>T ENST00000411641.2 + 2 492 c.273G>T c.(271-273)gtG>gtT p.V91V AHSG_ENST00000273784.5_Silent_p.V91V P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 91 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding p.V91V(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCTGCCATGTGCTGGACCCCA 0.567000 20 19 1.50039e-11 2.0695e-11 0.062417 1 0 WDR54 84058 broad.mit.edu 37 2 74652753 74652753 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:74652753T>C ENST00000348227.4 + 10 1018 c.930T>C c.(928-930)ttT>ttC p.F310F WDR54_ENST00000409791.1_Intron NM_032118.2 NP_115494.1 Q9H977 WDR54_HUMAN WD repeat domain 54 310 p.F310F(1) breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 GTGCTCGATTTTGTGATTCCT 0.577000 45 98 0 0 0.048971 0 0 HES3 390992 broad.mit.edu 37 1 6305549 6305549 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:6305549C>A ENST00000377898.3 + 4 608 c.543C>A c.(541-543)ccC>ccA p.P181P NM_001024598.3 NP_001019769.1 Q5TGS1 HES3_HUMAN hes family bHLH transcription factor 3 181 transcription, DNA-dependent nucleus DNA binding p.P181P(1) lung(2)|skin(1) 3 Ovarian(185;0.0634) all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241) GGGGAAGCCCCGGGGATGACC 0.697000 5 5 8.12818e-05 9.09447e-05 0.029380 1 0 SV2B 9899 broad.mit.edu 37 15 91769503 91769503 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:91769503T>C ENST00000394232.1 + 2 480 c.10T>C c.(10-12)Tac>Cac p.Y4H SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.Y4H NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 4 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.Y4H(1) NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) AATGGATGACTACAAGTATCA 0.488000 10 11 0 0 0.080935 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 28 0 0 0.009096 0 0 RELN 5649 broad.mit.edu 37 7 103292171 103292171 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103292171G>C ENST00000428762.1 - 15 1988 c.1829C>G c.(1828-1830)cCt>cGt p.P610R RELN_ENST00000343529.5_Missense_Mutation_p.P610R|RELN_ENST00000424685.2_Missense_Mutation_p.P610R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 610 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.P610R(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACAGATCTCAGGTAAGCATTC 0.473000 6 34 0 0 0.021553 0 0 TBX22 50945 broad.mit.edu 37 X 79282284 79282284 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:79282284C>G ENST00000442340.1 + 6 845 c.355C>G c.(355-357)Cag>Gag p.Q119E TBX22_ENST00000373294.5_Missense_Mutation_p.Q239E|TBX22_ENST00000373296.3_Missense_Mutation_p.Q239E|TBX22_ENST00000373291.1_Missense_Mutation_p.Q119E NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 239 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q239E(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTCCCAGATTCAGTCCTTGCC 0.448000 32 5 0 0 0.045705 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40265983 40265983 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:40265983G>A ENST00000559624.1 + 11 1901 c.1851G>A c.(1849-1851)taG>taA p.*617* EIF2AK4_ENST00000263791.5_Intron|EIF2AK4_ENST00000382727.2_Intron Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 0 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GTCCCCTTTAGAGCTCCTTCT 0.433000 44 38 0 0 0.045515 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937482 82937482 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:82937482C>A ENST00000274341.4 - 5 1748 c.898G>T c.(898-900)Gga>Tga p.G300* NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 300 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.G300*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CGGTCATATCCGAGAATTTTC 0.557000 69 106 2.17656e-39 4.24694e-39 0.048971 1 0 UPP2 151531 broad.mit.edu 37 2 158978086 158978086 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:158978086C>A ENST00000605860.1 + 8 837 c.791C>A c.(790-792)cCa>cAa p.P264Q UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.P207Q|UPP2_ENST00000409859.4_Missense_Mutation_p.P264Q O95045 UPP2_HUMAN uridine phosphorylase 2 207 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity p.P207Q(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 CCCAACTTCCCAACCCTCGTT 0.393000 15 65 6.31663e-08 8.03706e-08 0.024245 1 0 RAB9BP1 9366 broad.mit.edu 37 5 104435192 104435192 + RNA SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:104435192A>C ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA GAAAATCATCACTTTTTAAAG 0.343000 12 15 0 0 0.028581 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554470 140554470 + Missense_Mutation SNP C C A rs17844475 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140554470C>A ENST00000231137.3 + 1 2228 c.2054C>A c.(2053-2055)aCc>aAc p.T685N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 685 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T685N(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTCGCTCACCGTCTACCTG 0.711000 46 120 8.00217e-19 1.34773e-18 0.048971 1 0 HDX 139324 broad.mit.edu 37 X 83591885 83591885 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:83591885T>C ENST00000297977.5 - 7 1775 c.1664A>G c.(1663-1665)gAg>gGg p.E555G HDX_ENST00000373177.2_Missense_Mutation_p.E555G|HDX_ENST00000506585.2_Missense_Mutation_p.E497G NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 555 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E555G(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTCATTGGGCTCTTCTACAGA 0.323000 16 1 0 0 0.038395 0 0 OR9I1 219954 broad.mit.edu 37 11 57886584 57886584 + Silent SNP C C T rs144479851 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:57886584C>T ENST00000302610.1 - 1 332 c.333G>A c.(331-333)gaG>gaA p.E111E OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E111E(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GCAGAAAGCACTCTGTGCCTG 0.557000 6 30 0 0 0.021553 0 0 POLG 5428 broad.mit.edu 37 15 89867077 89867077 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:89867077C>A ENST00000268124.5 - 12 2459 c.2126G>T c.(2125-2127)cGa>cTa p.R709L POLG_ENST00000442287.2_Missense_Mutation_p.R709L NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 709 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding p.R709L(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CACTGCAGCTCGCAAGTTCTC 0.567000 DNA polymerases (catalytic subunits) 6 34 2.0095e-06 2.38605e-06 0.029380 1 0 ZNF81 347344 broad.mit.edu 37 X 47775357 47775357 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:47775357G>T ENST00000376954.1 + 6 1680 c.1312G>T c.(1312-1314)Gga>Tga p.G438* ZNF81_ENST00000338637.7_Nonsense_Mutation_p.G438* P51508 ZNF81_HUMAN zinc finger protein 81 438 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G438*(1) breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) AATTCATACAGGAGAGAGGTC 0.433000 28 5 4.87955e-14 7.27952e-14 0.108266 1 0 MFSD7 84179 broad.mit.edu 37 4 680325 680325 + Missense_Mutation SNP G G A rs139449222 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:680325G>A ENST00000322224.4 - 2 603 c.290C>T c.(289-291)gCg>gTg p.A97V MFSD7_ENST00000404286.2_Missense_Mutation_p.A97V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A75V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A33V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A97V|MFSD7_ENST00000513740.1_5'UTR Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 97 transmembrane transport integral to membrane p.A97V(1) cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 ACTCACCGCCGCACGGAGCCC 0.662000 20 31 0 0 0.055883 0 0 TMCO4 255104 broad.mit.edu 37 1 20009804 20009804 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:20009804T>A ENST00000294543.6 - 16 1875 c.1634A>T c.(1633-1635)cAg>cTg p.Q545L TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q505L|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q545L NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 545 integral to membrane p.Q545L(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGCTGCTGCCTGGCGAGGCTC 0.662000 28 26 0 0 0.041601 0 0 ALPK2 115701 broad.mit.edu 37 18 56247074 56247074 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:56247074G>T ENST00000361673.3 - 4 1147 c.934C>A c.(934-936)Cca>Aca p.P312T NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 312 ATP binding|protein serine/threonine kinase activity p.P312T(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GTTATCTCTGGGCAAAGTTCA 0.478000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 51 1.67942e-08 2.16699e-08 0.038395 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37454033 37454033 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:37454033C>A ENST00000374660.1 + 18 1945 c.1846C>A c.(1846-1848)Cca>Aca p.P616T ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P616T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P616T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 672 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P616T(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGAGATACTCCCATCAGAATC 0.294000 30 14 1.07637e-12 1.54111e-12 0.074837 1 0 GPR112 139378 broad.mit.edu 37 X 135485469 135485469 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:135485469C>A ENST00000394143.1 + 22 8933 c.8642C>A c.(8641-8643)cCa>cAa p.P2881Q GPR112_ENST00000394141.1_Missense_Mutation_p.P2676Q|GPR112_ENST00000287534.4_Missense_Mutation_p.P2634Q|GPR112_ENST00000412101.1_Missense_Mutation_p.P2676Q|GPR112_ENST00000370652.1_Missense_Mutation_p.P2881Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2881 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P2881Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACTCTGAGCCCAACAACTCCG 0.488000 8 5 0.00307968 0.00325247 0.038147 1 0 UNC5A 90249 broad.mit.edu 37 5 176297470 176297470 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:176297470G>A ENST00000329542.4 + 6 1095 c.821G>A c.(820-822)gGa>gAa p.G274E UNC5A_ENST00000261961.3_Missense_Mutation_p.G234E NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 274 TSP type-1. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane p.G274E(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCGCAACGGAGGGGAGGAG 0.642000 15 50 0 0 0.028581 0 0 AGRN 375790 broad.mit.edu 37 1 986125 986125 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:986125C>A ENST00000379370.2 + 30 5211 c.5161C>A c.(5161-5163)Ctg>Atg p.L1721M NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1721 Laminin G-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.L1721M(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCCAGTCACCCTGGGAGCCTG 0.711000 3 6 0.00909568 0.00940426 0.009096 1 0 MUC16 94025 broad.mit.edu 37 19 9011493 9011493 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:9011493G>T ENST00000397910.4 - 36 38943 c.38738_splice c.e36-1 p.P12914_splice NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12916 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P66T(1)|p.P12914T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTTCTCAGGCCTGGGGAAG 0.522000 54 23 6.60958e-23 1.1816e-22 0.048971 1 0 SIX1 6495 broad.mit.edu 37 14 61113223 61113223 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:61113223C>A ENST00000247182.6 - 2 905 c.633G>T c.(631-633)ccG>ccT p.P211P SIX1_ENST00000554986.1_Silent_p.P38P NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 211 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.P211P(1) breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) TGGACATGAGCGGCTTGCCCC 0.527000 70 12 4.05715e-38 7.89232e-38 0.048971 1 0 SCN10A 6336 broad.mit.edu 37 3 38739735 38739735 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:38739735G>T ENST00000449082.2 - 27 4975 c.4976C>A c.(4975-4977)aCg>aAg p.T1659K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1659 sensory perception voltage-gated sodium channel complex p.T1659K(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCGGCCGACGTGGTAATCTG 0.597000 35 44 3.2961e-07 4.02577e-07 0.074837 1 0 HAS1 3036 broad.mit.edu 37 19 52222568 52222568 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:52222568G>T ENST00000540069.2 - 2 650 c.590C>A c.(589-591)gCg>gAg p.A197E HAS1_ENST00000222115.1_Missense_Mutation_p.A198E|HAS1_ENST00000601714.1_Missense_Mutation_p.A205E|HAS1_ENST00000594621.1_Missense_Mutation_p.A52E Q92839 HAS1_HUMAN hyaluronan synthase 1 198 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding p.A198E(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCTCACCAGCGCCTCCACTGC 0.711000 10 4 4.68919e-08 5.99018e-08 0.069234 1 0 MSMO1 6307 broad.mit.edu 37 4 166254679 166254679 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:166254679G>C ENST00000261507.6 + 2 330 c.157G>C c.(157-159)Gga>Cga p.G53R MSMO1_ENST00000504317.1_Missense_Mutation_p.G53R|MSMO1_ENST00000393766.2_Intron NM_006745.4 NP_006736.1 Q15800 ERG25_HUMAN methylsterol monooxygenase 1 53 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding p.G53R(1) NADH(DB00157) TGCAACATGGGGATCCCTTAT 0.299000 14 39 0 0 0.020292 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12248921 12248921 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:12248921A>T ENST00000376259.3 + 2 236 c.147A>T c.(145-147)acA>acT p.T49T TNFRSF1B_ENST00000536782.1_Silent_p.T49T|TNFRSF1B_ENST00000492361.1_Intron NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 49 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity p.T49T(1) central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) ATGACCAGACAGCTCAGATGT 0.632000 12 30 0 0 0.080935 0 0 CTCFL 140690 broad.mit.edu 37 20 56094399 56094399 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:56094399C>T ENST00000426658.2 - 3 1450 c.789G>A c.(787-789)atG>atA p.M263I CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000433949.2_Missense_Mutation_p.M263I|CTCFL_ENST00000429804.2_Missense_Mutation_p.M263I|CTCFL_ENST00000423479.2_Missense_Mutation_p.M263I|CTCFL_ENST00000243914.3_Missense_Mutation_p.M263I|CTCFL_ENST00000371196.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422869.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422109.2_Missense_Mutation_p.M263I|CTCFL_ENST00000432255.2_Missense_Mutation_p.M263I|CTCFL_ENST00000539382.1_Missense_Mutation_p.M58I|CTCFL_ENST00000502686.2_Start_Codon_SNP_p.M1I Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 263 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.M263I(1) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AAGAGGTGAACATGCAGACAT 0.398000 16 80 0 0 0.043863 0 0 C1orf116 79098 broad.mit.edu 37 1 207195647 207195647 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:207195647C>A ENST00000359470.5 - 4 1711 c.1462G>T c.(1462-1464)Ggc>Tgc p.G488C C1orf116_ENST00000461135.2_Missense_Mutation_p.G242C NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 488 cytoplasm|plasma membrane receptor activity p.G488C(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) AGTCCCACGCCTGAGCGCTCC 0.567000 3 10 0.00909568 0.00940426 0.009096 1 0 THSD7B 80731 broad.mit.edu 37 2 137988681 137988681 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:137988681C>A ENST00000409968.1 + 8 1969 c.1791C>A c.(1789-1791)ccC>ccA p.P597P THSD7B_ENST00000272643.3_Silent_p.P597P|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.P566P thrombospondin, type I, domain containing 7B p.P597P(1)|p.P566P(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGAAATTCCCTGCCGAATGG 0.483000 9 22 4.68919e-08 5.99018e-08 0.069234 1 0 OR6C75 390323 broad.mit.edu 37 12 55759343 55759343 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:55759343G>T ENST00000343399.3 + 1 449 c.449G>T c.(448-450)gGg>gTg p.G150V NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G150V(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TGGCTTGCAGGGTTTCTGATC 0.453000 30 5 1.50538e-07 1.86714e-07 0.030593 1 0 KCNC1 3746 broad.mit.edu 37 11 17794031 17794031 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:17794031C>T ENST00000379472.3 + 2 1420 c.1390C>T c.(1390-1392)Ccg>Tcg p.P464S KCNC1_ENST00000265969.6_Missense_Mutation_p.P464S NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 464 voltage-gated potassium channel complex voltage-gated potassium channel activity p.P464S(2) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TCCGCGGCCACCGCAGCTGGG 0.473000 14 55 0 0 0.024245 0 0 GLCCI1 113263 broad.mit.edu 37 7 8062173 8062173 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:8062173T>A ENST00000223145.5 + 3 1227 c.670T>A c.(670-672)Tgg>Agg p.W224R GLCCI1_ENST00000474269.1_3'UTR NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 224 p.W224M(1) endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTCTGCGTCATGGGGGAGTGC 0.358000 16 11 0 0 0.055883 0 0 CACNA1E 777 broad.mit.edu 37 1 181765960 181765960 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:181765960C>A ENST00000526775.1 + 45 6344 c.6179C>A c.(6178-6180)cCc>cAc p.P2060H CACNA1E_ENST00000357570.5_Missense_Mutation_p.P2073H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P2079H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P2103H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1686H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P2011H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2122H NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2122 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.P2079H(1)|p.P2122H(1) 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 TCCAGGTCACCCAGTGAGGGC 0.587000 6 4 0.00116845 0.00125471 0.021553 1 0 ANKZF1 55139 broad.mit.edu 37 2 220098104 220098104 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:220098104A>T ENST00000323348.5 + 7 942 c.768A>T c.(766-768)tcA>tcT p.S256S ANKZF1_ENST00000410034.3_Silent_p.S256S|ANKZF1_ENST00000409849.1_Silent_p.S46S NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 256 intracellular zinc ion binding p.S256S(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGGCCATCACACTCTGCTG 0.522000 11 23 0 0 0.080935 0 0 CD6 923 broad.mit.edu 37 11 60776153 60776153 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:60776153G>T ENST00000313421.7 + 4 803 c.617G>T c.(616-618)tGg>tTg p.W206L CD6_ENST00000352009.5_Missense_Mutation_p.W206L|CD6_ENST00000346437.4_Missense_Mutation_p.W206L|CD6_ENST00000344028.5_Missense_Mutation_p.W206L|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.W206L NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 206 SRCR 2. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity p.W206L(2) endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GGCTGCGGCTGGGCAGTCCAG 0.682000 6 5 0.0381472 0.0388143 0.038147 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 8 48 0 0 0.038147 0 0 OR4M2 390538 broad.mit.edu 37 15 22369185 22369185 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:22369185G>T ENST00000332663.2 + 1 708 c.610G>T c.(610-612)Ggt>Tgt p.G204C RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G204C(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGTAGTAGTGGTCTGATCTC 0.468000 51 178 1.47633e-17 2.40419e-17 0.048971 1 0 TGM7 116179 broad.mit.edu 37 15 43572139 43572139 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:43572139C>T ENST00000452443.2 - 10 1366 c.1362G>A c.(1360-1362)gaG>gaA p.E454E NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 454 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.E454E(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CAGCTCTCTCCTCAGGGGATC 0.567000 13 31 0 0 0.024245 0 0 AGRN 375790 broad.mit.edu 37 1 981168 981168 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:981168G>A ENST00000379370.2 + 15 2642 c.2592G>A c.(2590-2592)ggG>ggA p.G864G NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 864 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.G864G(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGATGACGGGGCTGTGCTCGT 0.667000 20 37 0 0 0.091800 0 0 PIK3C3 5289 broad.mit.edu 37 18 39537583 39537583 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:39537583G>T ENST00000262039.4 + 2 203 c.117G>T c.(115-117)ctG>ctT p.L39L PIK3C3_ENST00000590220.1_Intron|PIK3C3_ENST00000398870.3_Intron|PIK3C3_ENST00000586545.1_Silent_p.L39L NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 39 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding p.L39L(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 AAGCTGTCCTGGAAGACCCAA 0.403000 TSP Lung(28;0.18) 11 19 2.80697e-09 3.69643e-09 0.080935 1 0 VWCE 220001 broad.mit.edu 37 11 61040724 61040724 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:61040724C>A ENST00000335613.5 - 13 2032 c.1646G>T c.(1645-1647)cGg>cTg p.R549L VWCE_ENST00000535710.1_Missense_Mutation_p.R14L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 549 VWFC 3. extracellular region calcium ion binding p.R549L(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGGGCCCAGCCGCCACTCTTC 0.657000 7 28 5.18039e-06 6.03907e-06 0.038147 1 0 ADH1C 126 broad.mit.edu 37 4 100268269 100268269 + RNA SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:100268269C>A ENST00000515683.1 - 0 504 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TAACCACATGCTCATCTGAAC 0.468000 30 91 6.07407e-21 1.06504e-20 0.034045 1 0 AK5 26289 broad.mit.edu 37 1 77806104 77806104 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:77806104C>A ENST00000344720.5 + 6 1690 c.664C>A c.(664-666)Cag>Aag p.Q222K AK5_ENST00000354567.2_Missense_Mutation_p.Q248K NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 248 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity p.Q248K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 TTGTGCTAATCAGAGACTCAA 0.453000 135 31 2.73285e-76 5.48282e-76 0.048971 1 0 SOX14 8403 broad.mit.edu 37 3 137484280 137484280 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:137484280C>A ENST00000306087.1 + 1 702 c.654C>A c.(652-654)taC>taA p.Y218* NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 218 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding p.Y218*(1) large_intestine(2)|lung(12) 14 CCGTCGCCTACATCCTCTTCC 0.652000 15 18 7.93312e-07 9.59773e-07 0.020292 1 0 OPLAH 26873 broad.mit.edu 37 8 145113021 145113021 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:145113021C>T ENST00000426825.1 - 8 1061 c.980G>A c.(979-981)gGg>gAg p.G327E OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 327 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding p.G327E(1) 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) CTCGAATTCCCCAGCATAGCG 0.682000 24 76 0 0 0.091800 0 0 CCDC127 133957 broad.mit.edu 37 5 205950 205950 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:205950C>A ENST00000296824.3 - 3 377 c.245G>T c.(244-246)cGg>cTg p.R82L NM_145265.2 NP_660308.1 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 82 p.R82L(1) breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 all cancers(22;0.0236)|Lung(60;0.113) GACAGCACGCCGATTTTCTGA 0.478000 31 26 5.91797e-21 1.04052e-20 0.050027 1 0 CDX4 1046 broad.mit.edu 37 X 72667443 72667443 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:72667443T>C ENST00000373514.2 + 1 354 c.354T>C c.(352-354)ccT>ccC p.P118P NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 118 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P118P(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) ACTTGGGCCCTGTGGGCGGTG 0.662000 8 3 0 0 0.069234 0 0 MPP3 4356 broad.mit.edu 37 17 41909256 41909256 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:41909256C>G ENST00000398393.1 - 1 354 c.94G>C c.(94-96)Gac>Cac p.D32H MPP3_ENST00000398389.4_Missense_Mutation_p.D7H Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 7 L27 1. signal transduction cell surface|integral to plasma membrane guanylate kinase activity p.D7H(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TTACCAGAGTCCTCCGATAGC 0.617000 10 5 0 0 0.058154 0 0 SHOX2 6474 broad.mit.edu 37 3 157820574 157820574 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:157820574C>A ENST00000490689.2 - 2 1594 c.61G>T c.(61-63)Gaa>Taa p.E21* SHOX2_ENST00000425436.3_Nonsense_Mutation_p.E150*|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.E150*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.E174*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.E21*|SHOX2_ENST00000554685.1_5'UTR O60902 SHOX2_HUMAN short stature homeobox 2 150 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E21*(1)|p.E174*(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTGAGTTGTTCCAGGGTGAAA 0.572000 32 34 8.16721e-17 1.31003e-16 0.045705 1 0 FAM135A 57579 broad.mit.edu 37 6 71195938 71195938 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:71195938A>G ENST00000370479.3 + 10 1281 c.763A>G c.(763-765)Aac>Gac p.N255D FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000418814.2_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.N255D Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 273 p.N255D(1) breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 ACAGAAAGACAACCATCTAGG 0.348000 6 20 0 0 0.021553 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19756051 19756051 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr21:19756051C>A ENST00000284885.3 - 4 422 c.389G>T c.(388-390)tGg>tTg p.W130L NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 130 SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.W130L(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ATCTGACACCCACTGGGCAAA 0.388000 6 7 0.0381472 0.0388143 0.038147 1 0 ZNF716 441234 broad.mit.edu 37 7 57522863 57522863 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:57522863C>A ENST00000420713.1 + 3 363 c.251C>A c.(250-252)gCc>gAc p.A84D NM_001159279.1 NP_001152751.1 zinc finger protein 716 p.A84D(2) breast(1)|kidney(1)|lung(20)|ovary(2) 24 GAGATGGTAGCCAAACACCCA 0.438000 16 50 4.14922e-12 5.81072e-12 0.028581 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86568131 86568131 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:86568131T>C ENST00000450689.2 - 7 1178 c.993A>G c.(991-993)caA>caG p.Q331Q KIAA1324L_ENST00000297222.6_Silent_p.Q91Q|KIAA1324L_ENST00000416314.1_Silent_p.Q164Q|KIAA1324L_ENST00000444627.1_Silent_p.Q331Q NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 331 integral to membrane p.Q331Q(1)|p.Q91Q(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TACCTGAAAATTGAGAGTCGT 0.378000 23 69 0 0 0.091800 0 0 FOLR3 2352 broad.mit.edu 37 11 71850763 71850763 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:71850763G>A ENST00000445078.2 + 5 817 c.746G>A c.(745-747)tGc>tAc p.C249Y FOLR3_ENST00000442948.2_Missense_Mutation_p.C208Y|FOLR3_ENST00000456237.1_Missense_Mutation_p.C251Y P41439 FOLR3_HUMAN folate receptor 3 (gamma) 207 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity p.C251Y(1) large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) AGCGGCCGCTGCATCCAGATG 0.592000 30 14 0 0 0.059317 0 0 SMARCC1 6599 broad.mit.edu 37 3 47703910 47703910 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:47703910G>A ENST00000254480.5 - 20 2191 c.2072C>T c.(2071-2073)tCa>tTa p.S691L SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 691 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity p.S691L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TGGATTTCCTGACTGACTGAA 0.512000 23 30 0 0 0.069288 0 0 OSBPL7 114881 broad.mit.edu 37 17 45893993 45893993 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:45893993G>A ENST00000007414.3 - 10 1055 c.864C>T c.(862-864)acC>acT p.T288T OSBPL7_ENST00000392507.3_Silent_p.T288T NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 288 lipid transport lipid binding p.T288T(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GCAGCCCACGGGTGCCCGAGG 0.662000 21 4 0 0 0.069288 0 0 CCDC83 220047 broad.mit.edu 37 11 85593700 85593700 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:85593700C>A ENST00000280245.4 + 4 837 c.325C>A c.(325-327)Cag>Aag p.Q109K CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.Q66K|CCDC83_ENST00000342404.3_Missense_Mutation_p.Q109K NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 109 p.Q109K(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TGAAAGAGACCAGGAAAAAAA 0.358000 8 45 0.0581538 0.0588899 0.058154 1 0 TECRL 253017 broad.mit.edu 37 4 65147209 65147209 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:65147209G>C ENST00000381210.3 - 10 1011 c.901C>G c.(901-903)Cct>Gct p.P301A TECRL_ENST00000507440.1_Missense_Mutation_p.P301A NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 301 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.P301A(1) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GTGTAGTTAGGACATGAAACC 0.318000 9 32 0 0 0.069234 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46102028 46102028 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr21:46102028G>A ENST00000391617.1 - 1 50 c.11C>T c.(10-12)aCc>aTc p.T4I TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 4 keratin filament p.T4I(1) kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGAGCAGCTGGTGTGGCACAT 0.662000 13 8 0 0 0.028581 0 0 MARCO 8685 broad.mit.edu 37 2 119726804 119726804 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:119726804C>A ENST00000327097.4 + 2 301 c.166C>A c.(166-168)Ctc>Atc p.L56I MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 56 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.L56I(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CCTGATCCTGCTCACCGCTGG 0.602000 16 46 1.3612e-06 1.63754e-06 0.024245 1 0 ASXL3 80816 broad.mit.edu 37 18 31324221 31324221 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:31324221C>A ENST00000269197.5 + 12 4409 c.4409C>A c.(4408-4410)cCg>cAg p.P1470Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.P1470Q(2) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CGATCAATTCCGTGTAAAGTC 0.517000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 28 1.55795e-14 2.35718e-14 0.062417 1 0 PTPRT 11122 broad.mit.edu 37 20 41101018 41101018 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:41101018G>T ENST00000373198.3 - 8 1573 c.1338C>A c.(1336-1338)caC>caA p.H446Q PTPRT_ENST00000373193.3_Missense_Mutation_p.H446Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.H446Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.H446Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.H446Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.H446Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.H446Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 446 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.H446Q(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCAGGGTGTAGTGGGAGGAGG 0.617000 5 39 0.0215528 0.0221054 0.021553 1 0 KIAA1199 57214 broad.mit.edu 37 15 81188358 81188358 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:81188358G>T ENST00000394685.3 + 12 1787 c.1368G>T c.(1366-1368)gtG>gtT p.V456V KIAA1199_ENST00000356249.5_Silent_p.V456V|KIAA1199_ENST00000220244.3_Silent_p.V456V Q8WUJ3 K1199_HUMAN KIAA1199 456 p.V456V(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AGTTCCAGGTGCTTCCCTGCA 0.473000 24 48 4.26978e-12 5.9535e-12 0.083992 1 0 AP4E1 23431 broad.mit.edu 37 15 51201079 51201079 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:51201079G>T ENST00000261842.5 + 1 210 c.104G>T c.(103-105)aGg>aTg p.R35M AP4E1_ENST00000560508.1_5'UTR NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 35 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity p.R35M(1) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTCTCCTCGAGGCTGGGCAGC 0.701000 11 4 1.08611e-07 1.35763e-07 0.080935 1 0 COL6A3 1293 broad.mit.edu 37 2 238280799 238280799 + Missense_Mutation SNP G G C rs113247852 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:238280799G>C ENST00000295550.4 - 9 4313 c.3861C>G c.(3859-3861)aaC>aaG p.N1287K COL6A3_ENST00000392003.2_Missense_Mutation_p.N880K|COL6A3_ENST00000347401.3_Missense_Mutation_p.N1086K|COL6A3_ENST00000346358.4_Missense_Mutation_p.N1087K|COL6A3_ENST00000392004.3_Missense_Mutation_p.N1081K|COL6A3_ENST00000472056.1_Missense_Mutation_p.N680K|COL6A3_ENST00000409809.1_Missense_Mutation_p.N1081K|COL6A3_ENST00000353578.4_Missense_Mutation_p.N1081K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1287 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.N1081K(1)|p.N1287K(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGGAATGGGCGTTCAGCAGGA 0.602000 25 23 0 0 0.108266 0 0 HINFP 25988 broad.mit.edu 37 11 119005060 119005060 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:119005060A>T ENST00000350777.2 + 10 1469 c.1406A>T c.(1405-1407)cAg>cTg p.Q469L NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 469 Interaction with NPAT. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding p.Q469L(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GTGGTGAATCAGACCAATGCC 0.597000 OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 21 0 0 0.034045 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627409 140627409 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140627409C>A ENST00000231173.3 + 1 2263 c.2263C>A c.(2263-2265)Ctg>Atg p.L755M NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 755 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L755M(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGGTGTGTCTGACGGGAGG 0.522000 83 119 1.68136e-41 3.30083e-41 0.048971 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432001 117432001 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:117432001G>T ENST00000160373.3 - 4 1340 c.1249C>A c.(1249-1251)Cct>Act p.P417T NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 417 Pro-rich. p.P417T(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GAGTTCTGAGGAGCTATGCCT 0.527000 55 61 1.48341e-19 2.5659e-19 0.048971 1 0 RELN 5649 broad.mit.edu 37 7 103234901 103234901 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103234901G>T ENST00000428762.1 - 26 3737 c.3578C>A c.(3577-3579)cCt>cAt p.P1193H RELN_ENST00000343529.5_Missense_Mutation_p.P1193H|RELN_ENST00000424685.2_Missense_Mutation_p.P1193H NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1193 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.P1193N(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCTGGTGCAAGGGGTCTTGGC 0.483000 32 117 2.47316e-13 3.58104e-13 0.059317 1 0 TLR7 51284 broad.mit.edu 37 X 12904999 12904999 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:12904999C>A ENST00000380659.3 + 3 1511 c.1372C>A c.(1372-1374)Cag>Aag p.Q458K NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 458 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.Q458K(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTATGAACCCCAGGTCCTGGA 0.368000 68 14 7.75977e-34 1.47805e-33 0.048971 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907292 164907292 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:164907292G>T ENST00000475390.1 - 2 1770 c.1327C>A c.(1327-1329)Cgt>Agt p.R443S SLITRK3_ENST00000241274.3_Missense_Mutation_p.R443S O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 443 integral to membrane p.R443S(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TAGGAAATACGATTGTTCCCC 0.408000 HNSCC(40;0.11) 21 31 2.37509e-13 3.44685e-13 0.055883 1 0 CSRP2BP 57325 broad.mit.edu 37 20 18143374 18143374 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:18143374C>T ENST00000278816.2 + 7 2106 c.1456C>T c.(1456-1458)Ccg>Tcg p.P486S CSRP2BP_ENST00000377681.2_Missense_Mutation_p.P485S|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.P486S|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P358S Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 486 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity p.P486S(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TGCCATGACTCCGGAAGCTCG 0.502000 19 55 0 0 0.049695 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18776906 18776906 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:18776906G>T ENST00000380548.4 + 19 3018 c.2679G>T c.(2677-2679)acG>acT p.T893T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 893 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.T893T(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TCCCCAAGACGGCGGTGGTGC 0.682000 37 4 9.62906e-15 1.47784e-14 0.086207 1 0 BRE 9577 broad.mit.edu 37 2 28521329 28521329 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:28521329G>T ENST00000344773.2 + 11 1197 c.1059G>T c.(1057-1059)tgG>tgT p.W353C BRE_ENST00000379632.2_Missense_Mutation_p.W353C|BRE_ENST00000342045.2_Missense_Mutation_p.W353C|BRE_ENST00000379624.1_Missense_Mutation_p.W353C|BRE_ENST00000361704.2_Missense_Mutation_p.W353C NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 353 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding p.W353F(3) NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) GCCCCAGATGGGATGGAAATG 0.438000 43 46 1.57019e-19 2.70141e-19 0.098360 1 0 OR10G9 219870 broad.mit.edu 37 11 123894507 123894507 + Missense_Mutation SNP C C T rs148745928 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:123894507C>T ENST00000375024.1 + 1 788 c.788C>T c.(787-789)tCc>tTc p.S263F NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S263F(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGACCAGGCTCCAGGGACGTC 0.517000 11 126 0 0 0.020292 0 0 ABCC12 94160 broad.mit.edu 37 16 48145573 48145573 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:48145573C>A ENST00000311303.3 - 15 2470 c.2124_splice c.e15-1 p.D709_splice ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Splice_Site_p.D709_splice NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 709 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D709Y(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGTTCAGGATCCTGGAGACAA 0.507000 47 130 1.23713e-20 2.16328e-20 0.048971 1 0 MIRLET7A2 406882 broad.mit.edu 37 11 122017300 122017300 + RNA SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:122017300C>G ENST00000362105.1 - 0 1 NR_029477.1 CTACCTCAACCTGGGAGCATG 0.413000 17 61 0 0 0.043863 0 0 LRP1B 53353 broad.mit.edu 37 2 141458109 141458109 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:141458109C>A ENST00000389484.3 - 41 7480 c.6509G>T c.(6508-6510)tGt>tTt p.C2170F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2170 EGF-like 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.C2170F(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCATGGGCACAAGCACAAGT 0.403000 TSP Lung(27;0.18) 27 71 3.65163e-15 5.6587e-15 0.030593 1 0 CAPG 822 broad.mit.edu 37 2 85628374 85628374 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:85628374C>T ENST00000263867.4 - 5 679 c.430G>A c.(430-432)Ggg>Agg p.G144R CAPG_ENST00000409670.1_Missense_Mutation_p.G144R|CAPG_ENST00000409724.1_Missense_Mutation_p.G144R|CAPG_ENST00000409921.1_Missense_Mutation_p.G144R|CAPG_ENST00000483659.1_5'UTR NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 144 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding p.G144R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 TTCTTCTTCCCCTTCACCTGG 0.597000 20 58 0 0 0.069288 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750841 140750841 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140750841C>A ENST00000576222.1 + 1 1011 c.880C>A c.(880-882)Ctg>Atg p.L294M PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGTTCAAGCTGGACAGTAA 0.448000 52 73 9.59835e-30 1.80145e-29 0.048971 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37451731 37451731 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:37451731C>A ENST00000374660.1 + 17 1888 c.1789C>A c.(1789-1791)Cca>Aca p.P597T ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P597T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P597T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 653 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P597T(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAGTCTGTCCCAAATAAAGC 0.313000 42 17 6.21074e-16 9.81451e-16 0.042209 1 0 QSOX2 169714 broad.mit.edu 37 9 139107123 139107123 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:139107123T>C ENST00000358701.5 - 10 1274 c.1237A>G c.(1237-1239)Ata>Gta p.I413V NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 413 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity p.I413V(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) ACCCACTTTATGTGATTAGTA 0.393000 16 9 0 0 0.033300 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299759 125299759 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:125299759C>A ENST00000538699.1 - 2 229 c.149G>T c.(148-150)aGg>aTg p.R50M DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R50M NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 50 p.R50M(2) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GTGCACCAGCCTGCGACGCGT 0.726000 20 3 6.33239e-15 9.76561e-15 0.055883 1 0 NHLRC3 387921 broad.mit.edu 37 13 39621177 39621177 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:39621177G>T ENST00000379600.3 + 6 1001 c.678_splice c.e6-1 p.V227_splice NHLRC3_ENST00000379599.2_Splice_Site_p.V160_splice|NHLRC3_ENST00000470258.1_Splice_Site_p.V30_splice NM_001012754.2 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 227 extracellular region p.V227L(1) breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) TGTTTCTCAGGTGTGGGTTGC 0.358000 21 12 7.41877e-09 9.67009e-09 0.062417 1 0 MUC6 4588 broad.mit.edu 37 11 1018123 1018123 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:1018123G>T ENST00000421673.2 - 31 4728 c.4678C>A c.(4678-4680)Cac>Aac p.H1560N NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1560 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent p.H1560N(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGTTGGTGTGGGCCACAGGG 0.582000 9 174 1.99824e-07 2.46411e-07 0.033300 1 0 AGTPBP1 23287 broad.mit.edu 37 9 88292465 88292465 + Nonsense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:88292465T>A ENST00000357081.3 - 6 466 c.322A>T c.(322-324)Aaa>Taa p.K108* AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.K108*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.K50*|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.K108*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.K160*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.K50* Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 108 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.K108*(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GAACCACCTTTGGTGACTAAG 0.299000 16 42 0 0 0.038395 0 0 SLC24A5 283652 broad.mit.edu 37 15 48413249 48413249 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:48413249C>T ENST00000482911.2 + 1 49 c.8C>T c.(7-9)aCa>aTa p.T3I SLC24A5_ENST00000449382.2_Missense_Mutation_p.T3I|SLC24A5_ENST00000341459.3_Missense_Mutation_p.T3I Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 3 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.T3I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GAAATGCAGACAAAAGGGGGC 0.562000 3 26 0 0 0.004672 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26157085 26157085 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:26157085A>G ENST00000304218.3 + 1 527 c.467A>G c.(466-468)aAg>aGg p.K156R NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 156 nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.K156R(1) NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AAGACCCCAAAGAAGGCGAAG 0.627000 5 6 0 0 0.014758 0 0 ZNF484 83744 broad.mit.edu 37 9 95609812 95609812 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:95609812C>A ENST00000395505.2 - 3 1241 c.1149G>T c.(1147-1149)aaG>aaT p.K383N ZNF484_ENST00000375495.3_Missense_Mutation_p.K419N|ZNF484_ENST00000395506.3_Missense_Mutation_p.K421N|ZNF484_ENST00000332591.6_Missense_Mutation_p.K383N|ANKRD19P_ENST00000473204.1_RNA NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K419N(1) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GGATAAAGGCCTTCCCACATT 0.358000 26 35 1.1804e-14 1.80299e-14 0.091800 1 0 ATP9A 10079 broad.mit.edu 37 20 50310572 50310572 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:50310572C>A ENST00000338821.5 - 7 881 c.617G>T c.(616-618)tGc>tTc p.C206F ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 206 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.C206F(1) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCTCTGCGTGCAGGCCACGGG 0.632000 34 15 3.77016e-25 6.81611e-25 0.045515 1 0 NOX5 79400 broad.mit.edu 37 15 69327796 69327796 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:69327796G>T ENST00000260364.5 + 7 1205 c.904G>T c.(904-906)Gtg>Ttg p.V302L NOX5_ENST00000455873.3_Missense_Mutation_p.V285L|NOX5_ENST00000388866.3_Missense_Mutation_p.V320L|NOX5_ENST00000448182.3_Missense_Mutation_p.V274L|NOX5_ENST00000530406.2_Missense_Mutation_p.V292L Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 320 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity p.V302L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TATGGGCTACGTGGTAGTGGG 0.612000 20 19 1.2644e-06 1.52683e-06 0.055883 1 0 ASCC3 10973 broad.mit.edu 37 6 101214441 101214441 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:101214441C>A ENST00000369162.2 - 10 2081 c.1737_splice c.e10+1 p.Q579_splice ASCC3_ENST00000522650.1_Splice_Site_p.Q579_splice NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 579 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.Q579H(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AACAACATACCTGAGTTCGTA 0.308000 33 36 4.4194e-11 6.04363e-11 0.054565 1 0 TMPRSS11E 28983 broad.mit.edu 37 4 69340476 69340476 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:69340476C>A ENST00000305363.4 + 6 590 c.526C>A c.(526-528)Cat>Aat p.H176N NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 176 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.H176N(1) endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CTATCTAAACCATTGTAAGtt 0.338000 31 106 6.00712e-18 9.98587e-18 0.050027 1 0 LVRN 206338 broad.mit.edu 37 5 115361800 115361800 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:115361800A>G ENST00000357872.4 + 20 3082 c.2958A>G c.(2956-2958)ctA>ctG p.L986L CTD-2287O16.3_ENST00000600981.3_Intron NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 986 proteolysis integral to membrane metallopeptidase activity|zinc ion binding p.L986L(1) CTGCGTGGCTAAGGAGAAACA 0.403000 21 21 0 0 0.069288 0 0 OGG1 4968 broad.mit.edu 37 3 9807579 9807579 + Silent SNP C C T rs150915328 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:9807579C>T ENST00000302036.7 + 7 1378 c.1035C>T c.(1033-1035)atC>atT p.I345I OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000349503.5_Silent_p.I278I|CAMK1_ENST00000256460.3_Intron NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 335 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding p.?(1)|p.I345I(1) kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) GCCCCCCTATCGGGAGAGGGG 0.582000 Base excision repair (BER), DNA glycosylases 17 26 0 0 0.028581 0 0 COL14A1 7373 broad.mit.edu 37 8 121228707 121228707 + Missense_Mutation SNP C C G rs150549316 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:121228707C>G ENST00000297848.3 + 14 1985 c.1715C>G c.(1714-1716)gCa>gGa p.A572G COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.A572G|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.A477G NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 572 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.A572G(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TATAACAATGCAGATGGGACT 0.388000 70 65 0 0 0.048971 0 0 CARD6 84674 broad.mit.edu 37 5 40853331 40853331 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:40853331A>G ENST00000254691.5 + 3 2096 c.1897A>G c.(1897-1899)Atg>Gtg p.M633V CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 633 apoptosis|regulation of apoptosis intracellular p.M633V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CCAGGAAGTGATGTTCTCTTC 0.527000 66 75 0 0 0.048971 0 0 FLNB 2317 broad.mit.edu 37 3 58138445 58138445 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:58138445C>A ENST00000357272.4 + 39 6543 c.6378C>A c.(6376-6378)gtC>gtA p.V2126V FLNB_ENST00000429972.2_Intron|FLNB_ENST00000419752.2_Intron|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000295956.4_Intron|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000493452.1_Intron|FLNB_ENST00000490882.1_Intron O75369 FLNB_HUMAN filamin B, beta 2126 Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGTCAGAGTCATGAACTGCT 0.537000 6 5 5.9392e-07 7.21269e-07 0.021553 1 0 CSN2 1447 broad.mit.edu 37 4 70823408 70823408 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:70823408G>A ENST00000353151.3 - 5 270 c.259C>T c.(259-261)Cct>Tct p.P87S NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 87 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity p.P87S(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 ACCACAGCAGGCTGAGCAAGA 0.473000 13 48 0 0 0.020292 0 0 BAI2 576 broad.mit.edu 37 1 32222212 32222212 + Nonsense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:32222212T>A ENST00000373658.3 - 4 567 c.226A>T c.(226-228)Aag>Tag p.K76* BAI2_ENST00000373655.2_Nonsense_Mutation_p.K76*|BAI2_ENST00000398547.1_Nonsense_Mutation_p.K64*|BAI2_ENST00000398556.3_Nonsense_Mutation_p.K79*|BAI2_ENST00000398542.1_Nonsense_Mutation_p.K64*|BAI2_ENST00000527361.1_Nonsense_Mutation_p.K76*|BAI2_ENST00000257070.4_Nonsense_Mutation_p.K76*|BAI2_ENST00000398538.1_Nonsense_Mutation_p.K64* NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 76 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.K76*(1) breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGGGAGTACTTGGTGGGGTCA 0.642000 6 11 0 0 0.029380 0 0 RELN 5649 broad.mit.edu 37 7 103292158 103292158 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103292158A>T ENST00000428762.1 - 15 2001 c.1842T>A c.(1840-1842)gcT>gcA p.A614A RELN_ENST00000343529.5_Silent_p.A614A|RELN_ENST00000424685.2_Silent_p.A614A NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 614 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.A614A(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGTGGGGTCCAGCACAGATCT 0.473000 7 35 0 0 0.029380 0 0 LATS2 26524 broad.mit.edu 37 13 21549289 21549289 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:21549289G>A ENST00000382592.4 - 8 3392 c.2987C>T c.(2986-2988)cCc>cTc p.P996L LATS2_ENST00000542899.1_Missense_Mutation_p.P996L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 996 AGC-kinase C-terminal. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P996L(2) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGTGTCCATGGGGTGGCTGAT 0.597000 16 55 0 0 0.043863 0 0 TLX1 3195 broad.mit.edu 37 10 102894055 102894055 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:102894055G>T ENST00000370196.6 + 2 2734 c.692G>T c.(691-693)cGc>cTc p.R231L TLX1_ENST00000467928.2_Missense_Mutation_p.R231L P31314 TLX1_HUMAN T-cell leukemia homeobox 1 231 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R231L(1) breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TCGGCCGAGCGCGCCGCCCTG 0.657000 T """TRB@, TRD@""" T-ALL 6 9 8.12818e-05 9.09447e-05 0.029380 1 0 MYT1 4661 broad.mit.edu 37 20 62853402 62853402 + Splice_Site SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:62853402T>G ENST00000536311.1 + 14 2841 c.e14+2 MYT1_ENST00000328439.1_Splice_Site|MYT1_ENST00000360149.4_Splice_Site Q01538 MYT1_HUMAN myelin transcription factor 1 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCTGCTCACGTAAGTCCCTGT 0.562000 6 46 0 0 0.038147 0 0 FYN 2534 broad.mit.edu 37 6 112025246 112025246 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:112025246T>A ENST00000354650.3 - 7 1109 c.503A>T c.(502-504)aAc>aTc p.N168I FYN_ENST00000229470.5_Missense_Mutation_p.N119I|FYN_ENST00000229471.4_Missense_Mutation_p.N168I|FYN_ENST00000538466.1_Missense_Mutation_p.N168I|FYN_ENST00000368678.4_Missense_Mutation_p.N168I|FYN_ENST00000368682.3_Missense_Mutation_p.N168I|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000356013.2_Missense_Mutation_p.N168I|FYN_ENST00000368667.2_Missense_Mutation_p.N168I NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 168 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity p.N168I(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ACCTCTTGGGTTTCCAAAGGA 0.393000 33 20 0 0 0.064281 0 0 RYR2 6262 broad.mit.edu 37 1 237789102 237789102 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237789102C>A ENST00000366574.2 + 40 6481 c.6164C>A c.(6163-6165)tCc>tAc p.S2055Y RYR2_ENST00000360064.6_Missense_Mutation_p.S2053Y|RYR2_ENST00000542537.1_Missense_Mutation_p.S2039Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2055 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.S2053Y(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCAAAAAGTCCTGTAAGCAG 0.423000 6 16 3.59834e-05 4.06879e-05 0.021553 1 0 HYDIN 54768 broad.mit.edu 37 16 70908242 70908242 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:70908242G>T ENST00000393567.2 - 64 11064 c.10914C>A c.(10912-10914)atC>atA p.I3638I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3638 p.I3637I(1)|p.I3589I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTCCTCGATGATCTCTGTGA 0.488000 15 93 0.00498961 0.005235 0.033300 1 0 FHOD3 80206 broad.mit.edu 37 18 34191968 34191968 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:34191968G>T ENST00000257209.4 + 9 989 c.867G>T c.(865-867)ctG>ctT p.L289L FHOD3_ENST00000445677.1_Silent_p.L289L|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Silent_p.L289L|FHOD3_ENST00000359247.4_Silent_p.L289L NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 289 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.L289L(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TGGACTGCCTGGAGGAGCTGG 0.522000 12 19 2.68362e-12 3.79982e-12 0.093190 1 0 DNMT3B 1789 broad.mit.edu 37 20 31388040 31388040 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:31388040G>T ENST00000328111.2 + 17 2162 c.1841G>T c.(1840-1842)gGa>gTa p.G614V DNMT3B_ENST00000456297.2_Missense_Mutation_p.G518V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G606V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G594V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G594V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G552V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G594V NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 614 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity p.G606V(1)|p.G614V(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATTGCTGTTGGAACCGTGAAG 0.502000 31 44 9.93527e-08 1.25169e-07 0.054565 1 0 PLCG2 5336 broad.mit.edu 37 16 81888159 81888159 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:81888159A>T ENST00000359376.3 + 3 518 c.304A>T c.(304-306)Act>Tct p.T102S PLCG2_ENST00000565400.1_3'UTR NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 102 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.T102S(2) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCTATATGGCACTCAGTTCGT 0.493000 54 38 0 0 0.048971 0 0 POTEF 728378 broad.mit.edu 37 2 130832725 130832725 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:130832725C>A ENST00000357462.5 - 15 2413 c.2320G>T c.(2320-2322)Ggc>Tgc p.G774C POTEF_ENST00000409914.2_Missense_Mutation_p.G774C A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 774 Actin-like. cell cortex ATP binding p.G774C(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GTGATGATGCCGTGTTCCATG 0.582000 33 52 3.38236e-24 6.08064e-24 0.092188 1 0 CPNE5 57699 broad.mit.edu 37 6 36724072 36724072 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:36724072C>A ENST00000244751.2 - 13 1483 c.859G>T c.(859-861)Gta>Tta p.V287L CPNE5_ENST00000393189.2_5'UTR|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 287 p.V287L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTCGGGTTTACCACCTGCAGG 0.527000 7 20 5.18039e-06 6.03907e-06 0.038147 1 0 CACNA1I 8911 broad.mit.edu 37 22 40055719 40055719 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:40055719C>A ENST00000336649.4 + 17 2484 c.2484C>A c.(2482-2484)gaC>gaA p.D828E CACNA1I_ENST00000407673.1_Missense_Mutation_p.D787E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D822E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D787E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D822E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D787E Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 822 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.D822E(1)|p.D787E(1) 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) CCCAGGAGGACTGGAACGTCG 0.582000 50 38 9.59835e-30 1.80145e-29 0.048971 1 0 RP1L1 94137 broad.mit.edu 37 8 10480505 10480505 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:10480505G>T ENST00000382483.3 - 2 430 c.207C>A c.(205-207)tcC>tcA p.S69S RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 69 intracellular signal transduction p.S69S(1) 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) GCACGCGCTGGGAGAGCTCGT 0.652000 6 12 3.59834e-05 4.06879e-05 0.021553 1 0 GJA4 2701 broad.mit.edu 37 1 35260672 35260672 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:35260672C>A ENST00000342280.4 + 2 946 c.858C>A c.(856-858)tcC>tcA p.S286S NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 286 cell-cell junction assembly integral to plasma membrane p.S286S(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGCTCTCATCCAGTGAGCAGA 0.627000 4 11 0.00116845 0.00125471 0.021553 1 0 DBF4 10926 broad.mit.edu 37 7 87537065 87537065 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:87537065A>G ENST00000265728.1 + 12 2116 c.1612A>G c.(1612-1614)Agt>Ggt p.S538G NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 538 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding p.S538G(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) AACAATAAACAGTTCACAAGA 0.393000 20 55 0 0 0.076483 0 0 PXDN 7837 broad.mit.edu 37 2 1667392 1667392 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:1667392T>A ENST00000252804.4 - 12 1602 c.1552A>T c.(1552-1554)Act>Tct p.T518S NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 518 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.T518S(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGCTGCACAGTCAGGTGGGCC 0.532000 42 36 0 0 0.048971 0 0 PCDH15 65217 broad.mit.edu 37 10 56106127 56106127 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:56106127G>T ENST00000373965.2 - 6 986 c.592C>A c.(592-594)Ccg>Acg p.P198T PCDH15_ENST00000395440.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395442.1_Missense_Mutation_p.P198T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P198T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P198T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P176T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P198T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P198T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P198T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P198T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P203T|PCDH15_ENST00000373957.3_Missense_Mutation_p.P176T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P198T NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 198 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.P203T(2)|p.P198T(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTACATACCGGATCATCTGGA 0.308000 HNSCC(58;0.16) 23 31 5.26018e-13 7.54824e-13 0.062417 1 0 FAM71B 153745 broad.mit.edu 37 5 156590160 156590160 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:156590160C>A ENST00000302938.4 - 2 1211 c.1116G>T c.(1114-1116)ttG>ttT p.L372F NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 372 nucleus p.L372F(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACGCCGCACTCAAGCTGCTGT 0.577000 11 17 1.08611e-07 1.35763e-07 0.080935 1 0 COL11A1 1301 broad.mit.edu 37 1 103440391 103440391 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:103440391G>T ENST00000358392.2 - 36 3156 c.2839C>A c.(2839-2841)Cct>Act p.P947T COL11A1_ENST00000512756.1_Missense_Mutation_p.P819T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P896T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P935T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 935 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.P935T(1)|p.P947T(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTACAGGAGGGCCTTTTGGT 0.383000 11 19 2.27111e-07 2.79521e-07 0.093190 1 0 FGF14 2259 broad.mit.edu 37 13 102527578 102527578 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:102527578C>A ENST00000376131.4 - 2 372 c.277G>T c.(277-279)Gat>Tat p.D93Y FGF14_ENST00000376143.4_Missense_Mutation_p.D88Y|FGF14_ENST00000468052.1_5'UTR NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 88 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding p.D93Y(1)|p.D88Y(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAGCTCCATCGGGGTGCATT 0.453000 10 17 1.58986e-06 1.89835e-06 0.069234 1 0 DZIP1L 199221 broad.mit.edu 37 3 137822452 137822452 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:137822452T>A ENST00000327532.2 - 2 724 c.362A>T c.(361-363)cAg>cTg p.Q121L DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q121L NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 121 intracellular zinc ion binding p.Q121L(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 ACGCTGCTGCTGGCCCAGGCT 0.662000 5 7 0 0 0.038147 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390847 208390847 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:208390847G>A ENST00000367033.3 - 2 1178 c.421C>T c.(421-423)Cgg>Tgg p.R141W NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 141 Sema. axon guidance integral to membrane|intracellular|plasma membrane p.R141W(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TCATCCAGCCGCAGCAGCTTG 0.572000 36 87 0 0 0.092188 0 0 KCNE4 23704 broad.mit.edu 37 2 223917913 223917913 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:223917913G>T ENST00000281830.3 + 2 849 c.518G>T c.(517-519)gGg>gTg p.G173V KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.G122V Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 122 integral to membrane voltage-gated potassium channel activity p.G122V(1) large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCATGGAAGGGGACAGCGTG 0.667000 7 30 3.09899e-07 3.79226e-07 0.047766 1 0 ASPM 259266 broad.mit.edu 37 1 197065223 197065223 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:197065223C>A ENST00000367409.4 - 19 9148 c.8892G>T c.(8890-8892)tgG>tgT p.W2964C ASPM_ENST00000294732.7_Missense_Mutation_p.W1379C|ASPM_ENST00000367408.1_Missense_Mutation_p.W629C NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2964 IQ 35. mitosis cytoplasm|nucleus calmodulin binding p.W2964C(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AACATCTATACCAGGCTTGAA 0.333000 94 84 1.61169e-53 3.20335e-53 0.048971 1 0 DUS3L 56931 broad.mit.edu 37 19 5788169 5788169 + Nonsense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:5788169G>A ENST00000309061.7 - 5 1057 c.961C>T c.(961-963)Cga>Tga p.R321* DUS3L_ENST00000320699.8_Nonsense_Mutation_p.R79* NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 321 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding p.R321G(1)|p.R321*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CAGATCCGTCGGAAGGGCAGG 0.617000 29 9 0 0 0.045705 0 0 CHM 1121 broad.mit.edu 37 X 85233835 85233835 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:85233835C>G ENST00000357749.2 - 4 279 c.250G>C c.(250-252)Gaa>Caa p.E84Q CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.1_Intron|CHM_ENST00000358786.4_Missense_Mutation_p.E84Q NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 84 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.E84Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) GCAATGGCTTCTTCATTTTCA 0.363000 40 7 0 0 0.104719 0 0 AZGP1P1 646282 broad.mit.edu 37 7 99580803 99580803 + RNA SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:99580803C>A ENST00000425474.1 + 0 124 NR_036679.1 ACTGGGCTGTCCAGGTCTGGC 0.557000 7 4 5.18039e-06 6.03907e-06 0.038147 1 0 HCRTR2 3062 broad.mit.edu 37 6 55119937 55119937 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:55119937G>T ENST00000370862.3 + 3 742 c.406G>T c.(406-408)Gtg>Ttg p.V136L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 136 feeding behavior integral to plasma membrane neuropeptide receptor activity p.V136L(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCTCTAGACCGTGTCGGTGTC 0.413000 19 19 1.9806e-07 2.4518e-07 0.069288 1 0 SCAP 22937 broad.mit.edu 37 3 47460980 47460980 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:47460980G>T ENST00000265565.5 - 13 2190 c.1778C>A c.(1777-1779)tCg>tAg p.S593* SCAP_ENST00000441517.2_Nonsense_Mutation_p.S338*|SCAP_ENST00000545718.1_Nonsense_Mutation_p.S201* NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 593 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding p.S593*(1) endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CTCGCCTGGCGACGTCTGGTT 0.632000 33 53 1.08312e-15 1.70738e-15 0.041601 1 0 ZBTB11 27107 broad.mit.edu 37 3 101370100 101370100 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:101370100T>A ENST00000312938.4 - 11 3652 c.3072A>T c.(3070-3072)ttA>ttT p.L1024F NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 1024 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L1024F(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GCTGTTGTGCTAATACATAAT 0.383000 33 79 0 0 0.054565 0 0 FZD9 8326 broad.mit.edu 37 7 72849355 72849355 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:72849355C>G ENST00000344575.3 + 1 1247 c.1018C>G c.(1018-1020)Ctg>Gtg p.L340V NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 340 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding p.L340V(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) CACCTGGTTCCTGGCTGCCGG 0.642000 26 35 0 0 0.045705 0 0 SKOR1 390598 broad.mit.edu 37 15 68119376 68119376 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:68119376G>T ENST00000380035.2 + 2 1268 c.1210G>T c.(1210-1212)Ggc>Tgc p.G404C SKOR1_ENST00000341418.5_Missense_Mutation_p.G511C|SKOR1_ENST00000554240.1_Missense_Mutation_p.G365C|SKOR1_ENST00000554054.1_Missense_Mutation_p.G376C|SKOR1_ENST00000389002.1_Missense_Mutation_p.G360C P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 404 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity p.G404C(1)|p.G360C(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 TACGGCCTTCGGCCTATGCCC 0.677000 7 18 0.000157383 0.00017487 0.038147 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263227 140263227 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140263227C>A ENST00000289272.2 + 1 1374 c.1374C>A c.(1372-1374)ccC>ccA p.P458P PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P458P|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.P458P(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCGCAGCCCGAGTACACGG 0.682000 38 44 9.84934e-19 1.65448e-18 0.039052 1 0 CHORDC1 26973 broad.mit.edu 37 11 89944475 89944475 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:89944475G>C ENST00000320585.6 - 5 750 c.341C>G c.(340-342)cCa>cGa p.P114R CHORDC1_ENST00000457199.2_Missense_Mutation_p.P95R NM_012124.2 NP_036256.2 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain (CHORD) containing 1 114 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding p.P114R(1) endometrium(2)|large_intestine(2)|liver(1)|lung(6) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) ATTTGTCATTGGTTCATCTGG 0.299000 64 38 0 0 0.048971 0 0 OR11A1 26531 broad.mit.edu 37 6 29394980 29394980 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:29394980C>A ENST00000377149.1 - 5 911 c.439G>T c.(439-441)Gtc>Ttc p.V147F OR11A1_ENST00000377148.1_Missense_Mutation_p.V147F|OR11A1_ENST00000377147.2_Missense_Mutation_p.V147F|OR5V1_ENST00000377154.1_Intron Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V147F(1) cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CAGGTTGTGACCACCAGCCCC 0.567000 13 31 1.5842e-08 2.04826e-08 0.105934 1 0 ZIC4 84107 broad.mit.edu 37 3 147114004 147114004 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:147114004G>C ENST00000383075.3 - 3 835 c.323C>G c.(322-324)gCt>gGt p.A108G ZIC4_ENST00000525172.2_Missense_Mutation_p.A158G|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.A146G|ZIC4_ENST00000484399.1_Missense_Mutation_p.A108G|ZIC4_ENST00000473123.1_Missense_Mutation_p.A108G NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 108 nucleus DNA binding|zinc ion binding p.A108G(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GTGGGGCGCAGCGAGGTTCAC 0.711000 9 12 0 0 0.047766 0 0 SLC6A17 388662 broad.mit.edu 37 1 110717484 110717484 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:110717484G>T ENST00000331565.4 + 5 1140 c.655G>T c.(655-657)Gag>Tag p.E219* NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 219 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.E219*(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CTCCATCTCGGAGAGTGGGGG 0.572000 9 17 0.000442599 0.00048504 0.058154 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481152 95481152 + RNA SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:95481152A>G ENST00000432432.2 - 0 2208 NR_040113.1 TGTTTTTCTTAGGTCATTTTG 0.343000 87 67 0 0 0.048971 0 0 CYP2A7 1549 broad.mit.edu 37 19 41386406 41386406 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:41386406G>A ENST00000301146.4 - 3 1012 c.471C>T c.(469-471)atC>atT p.I157I CYP2A7_ENST00000291764.3_Silent_p.I106I|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 157 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.I157I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGATGGCCTCGATGAGGAAGC 0.662000 18 18 0 0 0.049695 0 0 CHEK2 11200 broad.mit.edu 37 22 29121263 29121263 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:29121263T>C ENST00000382580.2 - 4 616 c.541A>G c.(541-543)Aca>Gca p.T181A CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382566.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.T138A|CHEK2_ENST00000348295.3_Missense_Mutation_p.T138A|CHEK2_ENST00000405598.1_Missense_Mutation_p.T138A|CHEK2_ENST00000544772.1_5'UTR NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 138 R -> C (in prostate cancer; somatic mutation).|R -> H (in prostate cancer; somatic mutation). cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.T138A(1) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 TTGCTGTATGTTCGGTATTTA 0.373000 F breast Direct reversal of damage;Other conserved DNA damage response genes 33 83 0 0 0.059317 0 0 DBF4 10926 broad.mit.edu 37 7 87530130 87530130 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:87530130G>A ENST00000265728.1 + 10 1365 c.861G>A c.(859-861)ttG>ttA p.L287L NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 287 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding p.L287L(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) AACTCCAGTTGAAAGAGAAGA 0.353000 28 77 0 0 0.045705 0 0 C1orf105 92346 broad.mit.edu 37 1 172425554 172425554 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:172425554G>T ENST00000367727.4 + 4 396 c.e4-1 C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Splice_Site NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 p.?(2) large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 TTTCCCCTCAGGCCAGGAGGA 0.507000 18 73 7.87624e-14 1.16956e-13 0.076483 1 0 LRIF1 55791 broad.mit.edu 37 1 111495357 111495357 + Translation_Start_Site SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:111495357T>A ENST00000494675.1 - 0 226 LRIF1_ENST00000369763.4_Missense_Mutation_p.K50M|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding p.K50M(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TCCAGAAGACTTAGGAATTGG 0.378000 12 25 0 0 0.093190 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321559 79321559 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:79321559C>A ENST00000428286.1 - 8 5754 c.4554G>T c.(4552-4554)gaG>gaT p.E1518D PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1877D Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1877 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.E1877D(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTTCCACGGGCTCAATATCAC 0.463000 9 10 1.12685e-05 1.29477e-05 0.047766 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33535098 33535098 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:33535098C>A ENST00000504830.1 - 23 4782 c.e23-1 ADAMTS12_ENST00000352040.3_Splice_Site NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.?(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AAGTGGAACACTGAAAGAGAA 0.488000 HNSCC(64;0.19) 8 28 2.17888e-05 2.48128e-05 0.058154 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 42 0 0 0.021553 0 0 MRPS31 10240 broad.mit.edu 37 13 41345263 41345263 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:41345263T>C ENST00000323563.6 - 1 46 c.10A>G c.(10-12)Aga>Gga p.R4G NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 4 mitochondrion|ribosome protein domain specific binding p.R4G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GTCGAGACTCTAGGAAACATC 0.582000 16 25 0 0 0.076483 0 0 CR1 1378 broad.mit.edu 37 1 207741314 207741314 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:207741314C>A ENST00000367049.4 + 25 4098 c.4098C>A c.(4096-4098)agC>agA p.S1366R RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.S916R|CR1_ENST00000367051.1_Missense_Mutation_p.S916R|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.S916R NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 916 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.S921R(1)|p.S1366R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTGGAGAGAGCACCATCCGCT 0.542000 24 46 1.64293e-13 2.39517e-13 0.083992 1 0 GORAB 92344 broad.mit.edu 37 1 170521423 170521423 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:170521423A>G ENST00000367763.3 + 5 1025 c.1005A>G c.(1003-1005)ccA>ccG p.P335P NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 335 Necessary for interaction with RCHY1. Golgi apparatus|nucleus p.P335P(1) endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TAGAGAGGCCATTTCAGCCTG 0.463000 17 26 0 0 0.033300 0 0 ERBB2 2064 broad.mit.edu 37 17 37865605 37865605 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:37865605C>T ENST00000406381.2 + 6 894 c.384C>T c.(382-384)aaC>aaT p.N128N ERBB2_ENST00000269571.5_Silent_p.N158N|ERBB2_ENST00000540042.1_Silent_p.N128N|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Silent_p.N128N|ERBB2_ENST00000541774.1_Silent_p.N143N|ERBB2_ENST00000584601.1_Silent_p.N128N|ERBB2_ENST00000540147.1_Silent_p.N128N|ERBB2_ENST00000584450.1_Silent_p.N158N NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 158 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.N158N(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TCCAGCGGAACCCCCAGCTCT 0.557000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 21 28 0 0 0.055883 0 0 HECTD4 283450 broad.mit.edu 37 12 112622286 112622286 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:112622286C>A ENST00000550722.1 - 61 10441 c.10046G>T c.(10045-10047)tGc>tTc p.C3349F HECTD4_ENST00000430131.2_Missense_Mutation_p.C3073F|HECTD4_ENST00000377560.5_Missense_Mutation_p.C3323F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.C3323F(1)|p.C3073F(1) CTGCGAGCTGCAGATGGAGGC 0.687000 7 9 5.18039e-06 6.03907e-06 0.038147 1 0 PARK2 5071 broad.mit.edu 37 6 161969941 161969941 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:161969941G>T ENST00000366898.1 - 9 1130 c.1028C>A c.(1027-1029)cCg>cAg p.P343Q PARK2_ENST00000366892.1_Missense_Mutation_p.P343Q|PARK2_ENST00000338468.3_Missense_Mutation_p.P152Q|PARK2_ENST00000366894.1_Missense_Mutation_p.P152Q|PARK2_ENST00000366896.1_Missense_Mutation_p.P194Q|PARK2_ENST00000366897.1_Missense_Mutation_p.P315Q NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 343 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.P343Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GTCAGGCTCCGGCAGCAGCCC 0.637000 52 18 3.76525e-18 6.27541e-18 0.048971 1 0 GRIN2B 2904 broad.mit.edu 37 12 13906583 13906583 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:13906583G>T ENST00000279593.3 - 3 887 c.678C>A c.(676-678)ccC>ccA p.P226P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 226 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P226P(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGAATGATGGGGCTTTGAA 0.507000 116 49 1.90269e-63 3.80539e-63 0.048971 1 0 CPS1 1373 broad.mit.edu 37 2 211465353 211465353 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:211465353A>T ENST00000233072.5 + 15 1820 c.1624A>T c.(1624-1626)Atg>Ttg p.M542L CPS1_ENST00000430249.2_Missense_Mutation_p.M548L|CPS1_ENST00000451903.2_Missense_Mutation_p.M91L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 542 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.M542L(1)|p.M548L(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGAGTCCATTATGGCTACGGA 0.403000 24 82 0 0 0.091800 0 0 GRIK2 2898 broad.mit.edu 37 6 102372517 102372517 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:102372517C>A ENST00000369138.1 + 12 2280 c.1790C>A c.(1789-1791)cCt>cAt p.P597H GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Missense_Mutation_p.P548H|GRIK2_ENST00000421544.1_Missense_Mutation_p.P597H|GRIK2_ENST00000318991.6_Missense_Mutation_p.P597H|GRIK2_ENST00000413795.1_Missense_Mutation_p.P597H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 597 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.P597N(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCTTGCAACCCTGACTCAGAC 0.398000 25 50 2.12542e-12 3.02281e-12 0.030593 1 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T A rs121913240 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:25380276T>A ENST00000311936.3 - 3 373 c.182A>T c.(181-183)cAa>cTa p.Q61L KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61L NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61L(73)|p.Q61R(56)|p.Q61P(12) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418000 Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 84 23 0 0 0.048971 0 0 BAI3 577 broad.mit.edu 37 6 70049223 70049223 + Splice_Site SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:70049223A>T ENST00000370598.1 + 26 4108 c.e26-1 BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_Splice_Site NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.?(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGTCTCAACAGGGCGTCTCT 0.483000 82 110 0 0 0.048971 0 0 MB21D2 151963 broad.mit.edu 37 3 192516397 192516397 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:192516397G>T ENST00000392452.2 - 2 1574 c.1254C>A c.(1252-1254)gtC>gtA p.V418V NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 418 p.V416V(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TGGCTGCCTTGACATGCTCAA 0.617000 13 46 0.0135373 0.013974 0.093190 1 0 TMEM63C 57156 broad.mit.edu 37 14 77715175 77715175 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:77715175G>C ENST00000298351.4 + 20 1974 c.1830G>C c.(1828-1830)gtG>gtC p.V610V NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 610 integral to membrane p.V610V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCAGCGTGGTGATGGCGTACA 0.567000 29 146 0 0 0.041601 0 0 TARSL2 123283 broad.mit.edu 37 15 102197240 102197240 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:102197240C>A ENST00000335968.3 - 18 2362 c.e18-1 TARSL2_ENST00000559492.1_Splice_Site NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity p.?(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CACTGGATACCTAGAAGAAAA 0.398000 17 17 4.7546e-09 6.22279e-09 0.028581 1 0 DDX26B 203522 broad.mit.edu 37 X 134709151 134709151 + Splice_Site SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:134709151G>C ENST00000370752.4 + 13 2107 c.1773_splice c.e13+1 p.K591_splice DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 591 p.K591N(1) large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) AAGATAAGAAGGTAGGATACC 0.368000 64 13 0 0 0.048971 0 0 PRDM9 56979 broad.mit.edu 37 5 23509160 23509160 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:23509160C>T ENST00000296682.3 + 2 200 c.18C>T c.(16-18)tcC>tcT p.S6S NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 6 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.S6S(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTGAAAAGTCCCAAGAGGAGA 0.562000 HNSCC(3;0.000094) 8 18 0 0 0.047766 0 0 SPEG 10290 broad.mit.edu 37 2 220326615 220326615 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:220326615T>C ENST00000312358.7 + 7 2584 c.2452T>C c.(2452-2454)Tcc>Ccc p.S818P SPEG_ENST00000396686.1_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396689.2_5'UTR|SPEG_ENST00000396695.2_Missense_Mutation_p.S26P|SPEG_ENST00000396698.1_Missense_Mutation_p.S714P|SPEG_ENST00000396688.1_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 818 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.S818P(1) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGGTCTACATCCCCTTTCAG 0.622000 21 84 0 0 0.099896 0 0 RNPEP 6051 broad.mit.edu 37 1 201973564 201973564 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:201973564C>G ENST00000295640.4 + 10 1777 c.1734C>G c.(1732-1734)atC>atG p.I578M RNPEP_ENST00000367286.3_Missense_Mutation_p.I539M|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 578 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding p.I578M(1) breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GGGGCCAAATCGTCCTTAAGA 0.512000 33 85 0 0 0.054565 0 0 MYLK 4638 broad.mit.edu 37 3 123456294 123456294 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:123456294C>A ENST00000360772.3 - 9 1063 c.685G>T c.(685-687)Gga>Tga p.G229* MYLK_ENST00000359169.1_Nonsense_Mutation_p.G229*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.G229*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.G229*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.G229* Q15746 MYLK_HUMAN myosin light chain kinase 229 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.G229*(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTGTACACTCCCACGTCATCT 0.557000 26 72 4.26978e-12 5.9535e-12 0.083992 1 0 MIIP 60672 broad.mit.edu 37 1 12089915 12089915 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:12089915A>G ENST00000235332.4 + 7 978 c.809A>G c.(808-810)cAg>cGg p.Q270R MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.Q270R NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 270 Interaction with IGFBP2. p.Q270R(1) autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CGAGACCAGCAGGGCCCTGGG 0.637000 11 10 0 0 0.105934 0 0 AKAP10 11216 broad.mit.edu 37 17 19861631 19861631 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:19861631C>A ENST00000225737.6 - 4 730 c.573G>T c.(571-573)aaG>aaT p.K191N AKAP10_ENST00000395536.3_Missense_Mutation_p.K191N NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 191 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity p.K191N(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TAGTTTCATGCTTTTTAGATG 0.418000 27 8 8.58068e-18 1.40811e-17 0.034045 1 0 MFSD12 126321 broad.mit.edu 37 19 3551130 3551130 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:3551130C>A ENST00000355415.2 - 2 530 c.361G>T c.(361-363)Gcc>Tcc p.A121S MFSD12_ENST00000389395.3_Missense_Mutation_p.A121S|MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.A121S NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 121 transmembrane transport integral to membrane p.A121S(2) cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 TCGGGCGTGGCCGCCCCACAG 0.657000 15 5 3.41278e-10 4.60798e-10 0.033300 1 0 FAM47B 170062 broad.mit.edu 37 X 34962075 34962075 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:34962075A>T ENST00000329357.5 + 1 1163 c.1127A>T c.(1126-1128)aAg>aTg p.K376M NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 376 p.K376M(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GAACTCACCAAGCCTGGTAAA 0.537000 23 4 0 0 0.076483 0 0 FOXC2 2303 broad.mit.edu 37 16 86601557 86601557 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:86601557G>C ENST00000320354.4 + 1 701 c.616G>C c.(616-618)Gag>Cag p.E206Q NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 206 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding p.E206Q(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 CGCCCCCAAGGAGGCCGAGAA 0.726000 Late-onset Hereditary Lymphedema 6 17 0 0 0.038147 0 0 RALBP1 10928 broad.mit.edu 37 18 9533746 9533746 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:9533746G>T ENST00000019317.4 + 9 1846 c.1623G>T c.(1621-1623)gaG>gaT p.E541D RALBP1_ENST00000383432.3_Missense_Mutation_p.E541D Q15311 RBP1_HUMAN ralA binding protein 1 541 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding p.E541D(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 ACTCCTCCGAGAGCGAGAGCG 0.537000 70 20 2.84776e-26 5.20733e-26 0.048971 1 0 DDB1 1642 broad.mit.edu 37 11 61077401 61077401 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:61077401T>C ENST00000301764.7 - 20 2830 c.2433A>G c.(2431-2433)gaA>gaG p.E811E DDB1_ENST00000450997.2_Silent_p.E122E NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 811 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding p.E811E(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TGAGGGCATATTCATTCTGCA 0.498000 Nucleotide excision repair (NER) 19 85 0 0 0.062417 0 0 DDX26B 203522 broad.mit.edu 37 X 134655006 134655006 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:134655006G>T ENST00000370752.4 + 1 423 c.89G>T c.(88-90)gGc>gTc p.G30V DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 30 VWFA. p.G30V(2) large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) ATTGCCAAAGGCGCTGTGGAG 0.552000 64 10 1.17253e-29 2.18781e-29 0.048971 1 0 CTSE 1510 broad.mit.edu 37 1 206331183 206331183 + Nonstop_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:206331183T>G ENST00000361052.3 + 9 1322 c.1204T>G c.(1204-1206)Taa>Gaa p.*402E CTSE_ENST00000360218.2_Silent_p.P349P|CTSE_ENST00000432969.2_Silent_p.P274P|CTSE_ENST00000358184.2_Nonstop_Mutation_p.*397E P14091 CATE_HUMAN cathepsin E 0 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity p.P349P(1)|p.*397E(1) endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) AGCAGTCCCCTAAGGAGGGGC 0.517000 17 52 0 0 0.028581 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459079 45459079 + RNA SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:45459079G>A ENST00000548424.1 + 0 448 GAGAATCTCCGCCCCGCGCAC 0.488000 3 15 0 0 0.004672 0 0 ACACB 32 broad.mit.edu 37 12 109609686 109609686 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:109609686G>T ENST00000338432.7 + 5 1121 c.1002G>T c.(1000-1002)ctG>ctT p.L334L ACACB_ENST00000377848.3_Silent_p.L334L|ACACB_ENST00000377854.5_Silent_p.L334L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 334 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L334L(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ACGTGGAGCTGATTGTGGACA 0.527000 25 6 1.16021e-09 1.53734e-09 0.034045 1 0 MAD1L1 8379 broad.mit.edu 37 7 2108973 2108973 + Splice_Site SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:2108973G>A ENST00000406869.1 - 12 1631 c.1073_splice c.e12-1 p.S358_splice MAD1L1_ENST00000265854.7_Splice_Site_p.S358_splice|MAD1L1_ENST00000402746.1_Splice_Site_p.S266_splice|MAD1L1_ENST00000399654.2_Splice_Site_p.S358_splice Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 358 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding p.S358S(1) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCCCCCGGGCGCTGCATGGGA 0.662000 10 12 0 0 0.069234 0 0 PCK1 5105 broad.mit.edu 37 20 56139537 56139537 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:56139537G>T ENST00000535860.1 + 5 989 c.878G>T c.(877-879)aGg>aTg p.R293M PCK1_ENST00000543666.1_Splice_Site|PCK1_ENST00000319441.4_Splice_Site P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 0 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.?(1) endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGTCTTATAGGGGAACCTTG 0.602000 16 50 4.96729e-08 6.3328e-08 0.049695 1 0 ZBTB41 360023 broad.mit.edu 37 1 197128743 197128743 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:197128743G>A ENST00000367405.4 - 10 2544 c.2476C>T c.(2476-2478)Cgt>Tgt p.R826C ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R826C(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 GTAGTATGACGCACTAGGTCA 0.473000 4 63 0 0 0.009096 0 0 PEG10 23089 broad.mit.edu 37 7 94292998 94292998 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:94292998C>A ENST00000482108.1 + 2 609 c.130C>A c.(130-132)Ctt>Att p.L44I PEG10_ENST00000488574.1_Missense_Mutation_p.L44I NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 44 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.L44I(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GAACACCACCCTTCGAGAGCA 0.552000 5 7 0.000602214 0.000655471 0.014758 1 0 HTR3A 3359 broad.mit.edu 37 11 113853842 113853842 + Translation_Start_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:113853842C>A ENST00000535865.1 + 0 415 HTR3A_ENST00000504030.2_Splice_Site_p.F125_splice|HTR3A_ENST00000355556.2_Splice_Site_p.F131_splice|HTR3A_ENST00000299961.5_Splice_Site_p.F110_splice|HTR3A_ENST00000375498.2_Splice_Site_p.F131_splice|HTR3A_ENST00000506841.2_Splice_Site_p.F125_splice P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity p.F125L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCCCGCCAGCGTGGATGTGG 0.547000 48 42 1.39843e-22 2.49302e-22 0.048971 1 0 ADAM19 8728 broad.mit.edu 37 5 156915298 156915298 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:156915298G>T ENST00000257527.4 - 21 2603 c.2525C>A c.(2524-2526)cCc>cAc p.P842H ADAM19_ENST00000517905.1_Missense_Mutation_p.P842H|ADAM19_ENST00000394020.1_Missense_Mutation_p.P844H|ADAM19_ENST00000430702.2_Missense_Mutation_p.P575H NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 842 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.P843H(1)|p.P842H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTTGGTGCGGGGGGAATTGG 0.562000 42 108 1.89013e-27 3.4761e-27 0.048971 1 0 EIF3A 8661 broad.mit.edu 37 10 120802195 120802195 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:120802195C>G ENST00000369144.3 - 19 2964 c.2837G>C c.(2836-2838)aGa>aCa p.R946T EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R912T NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 946 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity p.R946T(1) endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AGAGGGCTCTCTATCTTCATC 0.567000 77 112 0 0 0.048971 0 0 TNXB 7148 broad.mit.edu 37 6 32014146 32014146 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:32014146A>T ENST00000375244.3 - 31 10613 c.10412T>A c.(10411-10413)gTa>gAa p.V3471E TNXB_ENST00000375247.2_Missense_Mutation_p.V3469E P22105 TENX_HUMAN tenascin XB 3516 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.V3536E(1)|p.V3471E(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCCTGGGCTACCGTCCAGGA 0.662000 9 8 0 0 0.058154 0 0 GPR32 2854 broad.mit.edu 37 19 51274608 51274608 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:51274608G>T ENST00000270590.4 + 1 888 c.751G>T c.(751-753)Gcc>Tcc p.A251S NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 251 integral to plasma membrane N-formyl peptide receptor activity p.A251S(1) breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTGGGTCCATGCCAACCGGCC 0.617000 29 12 2.81731e-10 3.81201e-10 0.045705 1 0 MMRN2 79812 broad.mit.edu 37 10 88702973 88702973 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:88702973T>C ENST00000372027.4 - 6 1641 c.1568A>G c.(1567-1569)gAc>gGc p.D523G NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 523 extracellular space p.D523G(1) breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 CCGCCGCTCGTCCAGGCTCAC 0.682000 14 29 0 0 0.020292 0 0 TAL1 6886 broad.mit.edu 37 1 47685773 47685773 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:47685773C>A ENST00000371883.3 - 4 1197 c.621G>T c.(619-621)ggG>ggT p.G207G TAL1_ENST00000294339.3_Silent_p.G205G|TAL1_ENST00000371884.2_Silent_p.G205G|TAL1_ENST00000459729.1_5'UTR P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 205 Helix-loop-helix motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity p.G205G(1) haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 CGGCAAAGGCCCCGTTCACAT 0.562000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 8 20 1.12685e-05 1.29477e-05 0.047766 1 0 CSMD3 114788 broad.mit.edu 37 8 113299337 113299337 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:113299337C>G ENST00000297405.5 - 58 9531 c.9287G>C c.(9286-9288)tGt>tCt p.C3096S CSMD3_ENST00000455883.2_Missense_Mutation_p.C2927S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3026S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3056S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3096 Sushi 22. integral to membrane|plasma membrane p.C3056S(1)|p.C3096S(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTAGCTAAACATGTTCTTTC 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 38 104 0 0 0.039052 0 0 KMT2A 4297 broad.mit.edu 37 11 118390412 118390412 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:118390412C>G ENST00000534358.1 + 32 11249 c.11226C>G c.(11224-11226)caC>caG p.H3742Q RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.H3701Q|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.H3739Q NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.H3739Q(1)|p.H3742Q(1) GTGCCAAGCACTGTCGAAATT 0.522000 70 47 0 0 0.048971 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475761 140475761 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140475761C>A ENST00000194155.4 + 1 1535 c.1387C>A c.(1387-1389)Cgc>Agc p.R463S NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 463 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.R463S(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTCGTCCGCGAGAACAA 0.632000 43 79 9.40535e-28 1.7347e-27 0.048971 1 0 ACTL9 284382 broad.mit.edu 37 19 8808576 8808576 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:8808576C>T ENST00000324436.3 - 1 596 c.476G>A c.(475-477)cGc>cAc p.R159H NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 159 cytoplasm|cytoskeleton p.R159H(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TAGCTTCTCGCGGTTGGTGGC 0.667000 10 30 0 0 0.020292 0 0 CSF2RA 1438 broad.mit.edu 37 X 1419441 1419441 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:1419441G>T ENST00000381524.3 + 10 1054 c.868G>T c.(868-870)Gca>Tca p.A290S CSF2RA_ENST00000432318.2_Missense_Mutation_p.A290S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A290S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A290S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000501036.2_Missense_Mutation_p.A157S|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A290S P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 290 extracellular region|integral to plasma membrane cytokine receptor activity p.A290S(3) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGAGCCCAGAGCAAAACACAG 0.443000 24 53 1.10513e-12 1.57525e-12 0.069288 1 0 NCALD 83988 broad.mit.edu 37 8 102731843 102731843 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:102731843G>A ENST00000395923.1 - 4 474 c.15C>T c.(13-15)aaC>aaT p.N5N NCALD_ENST00000220931.6_Silent_p.N5N|NCALD_ENST00000521599.1_Silent_p.N5N|NCALD_ENST00000311028.3_Silent_p.N5N|NCALD_ENST00000522951.1_Silent_p.N5N|NCALD_ENST00000519508.2_Silent_p.N5N NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 5 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding p.N5N(1) endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GCAGCTTGCTGTTCTGTTTCC 0.453000 41 105 0 0 0.039052 0 0 LUZP1 7798 broad.mit.edu 37 1 23418280 23418280 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:23418280C>A ENST00000302291.4 - 4 3276 c.2475G>T c.(2473-2475)caG>caT p.Q825H LUZP1_ENST00000418342.1_Missense_Mutation_p.Q825H|LUZP1_ENST00000314174.5_Missense_Mutation_p.Q825H|LUZP1_ENST00000374623.3_Missense_Mutation_p.Q825H Q86V48 LUZP1_HUMAN leucine zipper protein 1 825 nucleus p.Q825H(1) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CCAGCCCCACCTGGATATTGC 0.537000 24 34 1.64293e-13 2.39517e-13 0.083992 1 0 DNAH11 8701 broad.mit.edu 37 7 21730382 21730382 + Splice_Site SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:21730382G>C ENST00000328843.6 + 36 5976 c.e36-1 DNAH11_ENST00000409508.3_Splice_Site Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.?(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTTATGGTAGATTTGTATTT 0.353000 Kartagener syndrome 26 73 0 0 0.108266 0 0 CCR2 729230 broad.mit.edu 37 3 46399269 46399269 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:46399269T>A ENST00000292301.4 + 2 736 c.251T>A c.(250-252)cTg>cAg p.L84Q CCR2_ENST00000445132.2_Missense_Mutation_p.L84Q|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.L84Q NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 84 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity p.L84Q(2) breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CTGCTCAACCTGGCCATCTCT 0.438000 81 126 0 0 0.048971 0 0 NELFA 7469 broad.mit.edu 37 4 1989724 1989724 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:1989724G>A ENST00000382882.3 - 4 1705 c.588C>T c.(586-588)acC>acT p.T196T NELFA_ENST00000542778.1_Silent_p.T50T|NELFA_ENST00000411638.1_Silent_p.T185T NM_005663.4 NP_005654.3 negative elongation factor complex member A p.T185T(1) ACTGCTGGGCGGTCTCCGTGG 0.617000 3 10 0 0 0.004672 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749788 22749788 + RNA SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:22749788G>T ENST00000390298.2 + 0 346 CTGAGGACGAGGCTGAGTATT 0.562000 10 29 0.000978159 0.00105926 0.080935 1 0 C4orf21 55345 broad.mit.edu 37 4 113541332 113541332 + Missense_Mutation SNP A A T rs143057821 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:113541332A>T ENST00000505019.1 - 5 302 c.177T>A c.(175-177)gaT>gaA p.D59E C4orf21_ENST00000445203.2_Missense_Mutation_p.D28E|C4orf21_ENST00000309071.5_Missense_Mutation_p.D59E NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 59 p.D59E(2) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTTCTAAGTCATCTCCAGGTT 0.353000 16 51 0 0 0.038395 0 0 LELP1 149018 broad.mit.edu 37 1 153177371 153177371 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:153177371C>A ENST00000368747.1 + 2 298 c.188C>A c.(187-189)tCg>tAg p.S63* NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 63 Cys/Pro-rich. p.S63*(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCCTGCCCCTCGCAGTCTCCT 0.597000 29 28 9.39395e-14 1.38848e-13 0.030593 1 0 DCDC2 51473 broad.mit.edu 37 6 24205410 24205410 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:24205410C>T ENST00000378450.3 - 1 121 c.102G>A c.(100-102)aaG>aaA p.K34K DCDC2_ENST00000378454.3_Intron Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 62 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) CAATCAAATGCTTATTTTTAA 0.393000 21 15 0 0 0.055883 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 42 0 0 0.021553 0 0 TG 7038 broad.mit.edu 37 8 133945830 133945830 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:133945830G>A ENST00000220616.4 + 24 4881 c.4841G>A c.(4840-4842)aGc>aAc p.S1614N TG_ENST00000542445.1_Missense_Mutation_p.S48N|TG_ENST00000377869.1_Missense_Mutation_p.S1557N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1614 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.S1614N(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGGCCTGCAGCTTCTTCACC 0.572000 39 109 0 0 0.111260 0 0 CPNE5 57699 broad.mit.edu 37 6 36724073 36724073 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:36724073C>A ENST00000244751.2 - 13 1482 c.858G>T c.(856-858)gtG>gtT p.V286V CPNE5_ENST00000393189.2_5'UTR|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 286 p.V287L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCGGGTTTACCACCTGCAGGA 0.527000 7 20 5.18039e-06 6.03907e-06 0.038147 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 47 0 0 0.021553 0 0 CMYA5 202333 broad.mit.edu 37 5 79032837 79032837 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:79032837C>T ENST00000446378.2 + 2 8280 c.8249C>T c.(8248-8250)tCa>tTa p.S2750L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2750 perinuclear region of cytoplasm p.S2750L(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTAGAAAAGTCAAGCAGAGAT 0.383000 4 34 0 0 0.009096 0 0 BMP7 655 broad.mit.edu 37 20 55758795 55758795 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:55758795C>T ENST00000395863.3 - 4 1446 c.941G>A c.(940-942)cGg>cAg p.R314Q BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R314Q NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 314 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity p.R314Q(1) endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GTTGGCCATCCGCAGGGCTTC 0.642000 15 46 0 0 0.028581 0 0 LAMA1 284217 broad.mit.edu 37 18 6961967 6961967 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:6961967C>A ENST00000389658.3 - 52 7522 c.7429G>T c.(7429-7431)Gtg>Ttg p.V2477L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2477 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.V2477L(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTTTTCTCACTCCATAGGAA 0.388000 34 192 6.29468e-14 9.36883e-14 0.074837 1 0 THSD7B 80731 broad.mit.edu 37 2 138376014 138376014 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:138376014G>C ENST00000409968.1 + 19 3796 c.3618G>C c.(3616-3618)agG>agC p.R1206S THSD7B_ENST00000272643.3_Missense_Mutation_p.R1209S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1178S thrombospondin, type I, domain containing 7B p.R1178S(1)|p.R1209S(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AAGGCGTCAGGACCCGCCTGC 0.502000 7 8 0 0 0.038147 0 0 ZPBP 11055 broad.mit.edu 37 7 50070781 50070781 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:50070781G>T ENST00000046087.2 - 5 682 c.613C>A c.(613-615)Ctt>Att p.L205I ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.L204I NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 205 binding of sperm to zona pellucida extracellular region p.L205I(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TCACATGAAAGGTCAAGAAGC 0.358000 12 58 7.03913e-09 9.19396e-09 0.093190 1 0 ZNF485 220992 broad.mit.edu 37 10 44112653 44112653 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:44112653G>T ENST00000361807.3 + 5 1356 c.1162G>T c.(1162-1164)Ggg>Tgg p.G388W ZNF485_ENST00000374435.3_Missense_Mutation_p.G388W|ZNF485_ENST00000374437.2_Missense_Mutation_p.G297W NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G349W(1)|p.G388W(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TAAGAAATGTGGGAAAGCCTT 0.448000 19 25 3.32936e-07 4.05865e-07 0.038395 1 0 RBM27 54439 broad.mit.edu 37 5 145643117 145643117 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:145643117C>T ENST00000265271.5 + 14 2420 c.2254C>T c.(2254-2256)Ctt>Ttt p.L752F RBM27_ENST00000506502.1_Missense_Mutation_p.L697F NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 752 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.L752F(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAACATCGTCTTGGACATGC 0.428000 49 79 0 0 0.048971 0 0 AHNAK 79026 broad.mit.edu 37 11 62293785 62293785 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:62293785T>A ENST00000378024.4 - 5 8378 c.8104A>T c.(8104-8106)Atc>Ttc p.I2702F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2702 nervous system development nucleus protein binding p.I2702F(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGGCTTTGATATTCATCTCT 0.458000 39 156 0 0 0.074837 0 0 ZNF229 7772 broad.mit.edu 37 19 44934092 44934092 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:44934092C>A ENST00000291187.4 - 6 1168 c.846G>T c.(844-846)ttG>ttT p.L282F ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.L288F NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L288F(1) breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GTTTCTCTTTCAAAGGTACTC 0.448000 48 6 2.64894e-19 4.53295e-19 0.048971 1 0 NBN 4683 broad.mit.edu 37 8 90949303 90949303 + Splice_Site SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:90949303C>G ENST00000265433.3 - 15 2339 c.2184_splice c.e15-1 p.V729_splice NBN_ENST00000409330.1_Splice_Site_p.V647_splice NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 729 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding p.V729L(1) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGATTTTGTACCTGTCAAAAT 0.313000 Homologous recombination 35 35 0 0 0.054565 0 0 CDH7 1005 broad.mit.edu 37 18 63530152 63530152 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:63530152G>C ENST00000536984.2 + 11 2557 c.1863G>C c.(1861-1863)ttG>ttC p.L621F CDH7_ENST00000323011.3_Splice_Site_p.L621_splice|CDH7_ENST00000397968.2_Splice_Site_p.L621_splice Q9ULB5 CADH7_HUMAN cadherin 7, type 2 621 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L621F(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TGACATTATTGGGTAGGTACT 0.498000 10 20 0 0 0.080935 0 0 FLG 2312 broad.mit.edu 37 1 152279988 152279988 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:152279988A>T ENST00000368799.1 - 3 7409 c.7374T>A c.(7372-7374)ggT>ggA p.G2458G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2458 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G2458G(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGTCCTGACCCTCTTGGG 0.587000 Ichthyosis 149 167 0 0 0.048971 0 0 CHUK 1147 broad.mit.edu 37 10 101978830 101978830 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:101978830C>A ENST00000370397.7 - 7 710 c.624G>T c.(622-624)ggG>ggT p.G208G NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 208 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity p.G208G(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) ATACCATGGTCCCAAAGCTCC 0.418000 36 62 6.97489e-18 1.15347e-17 0.074837 1 0 C1orf173 127254 broad.mit.edu 37 1 75055605 75055605 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:75055605G>A ENST00000326665.5 - 12 2104 c.1886C>T c.(1885-1887)cCa>cTa p.P629L RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.P432L NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 629 Glu-rich. p.P629L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGACTTTCTTGGCTTATCATT 0.448000 12 141 0 0 0.024245 0 0 GTF3C1 2975 broad.mit.edu 37 16 27499558 27499558 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:27499558T>A ENST00000356183.4 - 23 3705 c.3690A>T c.(3688-3690)agA>agT p.R1230S GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1230S NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1230 Arg/Lys-rich (basic). transcription factor TFIIIC complex DNA binding|protein binding p.R1230S(1) breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CTTTCTTCTTTCTCTTGATCT 0.537000 35 89 0 0 0.074837 0 0 LRP12 29967 broad.mit.edu 37 8 105503136 105503136 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:105503136C>A ENST00000276654.5 - 7 2453 c.2345G>T c.(2344-2346)gGa>gTa p.G782V LRP12_ENST00000424843.2_Missense_Mutation_p.G763V|LRP12_ENST00000518375.1_5'UTR NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 782 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.G782V(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTCTGAAGATCCATCAGAAAT 0.408000 31 108 2.08457e-15 3.26192e-15 0.045705 1 0 FAT1 2195 broad.mit.edu 37 4 187509957 187509957 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:187509957T>G ENST00000441802.2 - 27 13765 c.13556A>C c.(13555-13557)tAc>tCc p.Y4519S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4519 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.Y4522S(1)|p.Y4519S(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCCTGGCGGGTAAGGGGCATG 0.527000 HNSCC(5;0.00058) 9 30 0 0 0.047766 0 0 PCNX 22990 broad.mit.edu 37 14 71500153 71500153 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:71500153G>T ENST00000304743.2 + 17 4012 c.3566G>T c.(3565-3567)tGg>tTg p.W1189L PCNX_ENST00000238570.5_Missense_Mutation_p.W1189L|PCNX_ENST00000439984.3_Missense_Mutation_p.W1078L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1189 integral to membrane p.W1189L(1) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGGATTCTTGGGATGGCCAG 0.353000 85 12 3.66348e-25 6.64201e-25 0.048971 1 0 ALMS1 7840 broad.mit.edu 37 2 73827957 73827957 + Missense_Mutation SNP G G T rs61741524 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:73827957G>T ENST00000264448.6 + 18 11929 c.11818G>T c.(11818-11820)Ggt>Tgt p.G3940C ALMS1_ENST00000409009.1_Missense_Mutation_p.G3898C NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3940 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.G3940C(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GCTCTTTACCGGTTATCCTGA 0.388000 7 20 0.000274275 0.000302128 0.047766 1 0 DMRTB1 63948 broad.mit.edu 37 1 53930518 53930518 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:53930518C>A ENST00000371445.3 + 3 1014 c.959C>A c.(958-960)aCt>aAt p.T320N NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 320 sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.T320N(1) large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 AAGGAGAACACTGGTGAGTGA 0.552000 30 34 8.73648e-17 1.39784e-16 0.069456 1 0 RNF213 57674 broad.mit.edu 37 17 78350335 78350335 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:78350335A>C ENST00000582970.1 + 52 13563 c.13420A>C c.(13420-13422)Acc>Ccc p.T4474P CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T2547P|RNF213_ENST00000508628.2_Missense_Mutation_p.T4523P NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.T2547P(1)|p.T4523P(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTCCCCAGCCACCATGGCGGT 0.552000 3 51 0 0 0.009096 0 0 ZNF98 148198 broad.mit.edu 37 19 22575523 22575523 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:22575523G>T ENST00000357774.5 - 4 635 c.514C>A c.(514-516)Cat>Aat p.H172N NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H172N(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CCTATCTTATGTCTGTTTGAA 0.299000 8 3 1.12685e-05 1.29477e-05 0.047766 1 0 AKAP3 10566 broad.mit.edu 37 12 4736526 4736526 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:4736526C>A ENST00000545990.2 - 5 2066 c.1542G>T c.(1540-1542)gaG>gaT p.E514D AKAP3_ENST00000228850.1_Missense_Mutation_p.E514D NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 514 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.E514D(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 ACATAAAATTCTCAGGTTTCT 0.502000 16 32 2.32078e-09 3.06881e-09 0.024245 1 0 CENPH 64946 broad.mit.edu 37 5 68491617 68491617 + Splice_Site SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:68491617A>T ENST00000283006.2 + 4 400 c.314_splice c.e4+1 p.R105_splice CENPH_ENST00000515001.1_Splice_Site_p.S105_splice NM_022909.3 NP_075060.1 Q9H3R5 CENPH_HUMAN centromere protein H 105 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding p.R105W(1) kidney(15)|large_intestine(2)|lung(3) 20 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) TGCATTAGACAGGTAATTATT 0.328000 14 26 0 0 0.020292 0 0 OR4A15 81328 broad.mit.edu 37 11 55135976 55135976 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:55135976T>A ENST00000314706.3 + 1 617 c.617T>A c.(616-618)cTg>cAg p.L206Q NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L206Q(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GACAACTTCCTGTGTGATTTG 0.438000 22 103 0 0 0.069288 0 0 TTYH3 80727 broad.mit.edu 37 7 2696151 2696151 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:2696151C>T ENST00000258796.7 + 11 1438 c.1233C>T c.(1231-1233)caC>caT p.H411H TTYH3_ENST00000407643.1_Silent_p.H379H|TTYH3_ENST00000403167.1_Silent_p.H240H NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 411 chloride channel complex|plasma membrane chloride channel activity p.H411H(1) kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GCGTCCCGCACACCTGGCAGC 0.632000 10 47 0 0 0.069234 0 0 PSKH2 85481 broad.mit.edu 37 8 87081723 87081723 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:87081723C>A ENST00000276616.2 - 1 203 c.129G>T c.(127-129)gcG>gcT p.A43A PSKH2_ENST00000517981.1_Intron NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 43 ATP binding|protein serine/threonine kinase activity p.A43A(1) NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) GTATCCTCTGCGCCGCCTGGG 0.697000 15 9 1.99824e-07 2.46411e-07 0.033300 1 0 MRGPRF 116535 broad.mit.edu 37 11 68773568 68773568 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:68773568G>C ENST00000309099.6 - 3 592 c.210C>G c.(208-210)ggC>ggG p.G70G MRGPRF_ENST00000441623.1_Silent_p.G70G NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 70 integral to membrane|plasma membrane G-protein coupled receptor activity p.G70G(1) endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGATGGAGAAGCCGAAAAACC 0.592000 7 24 0 0 0.029380 0 0 MS4A2 2206 broad.mit.edu 37 11 59857214 59857214 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:59857214G>A ENST00000278888.3 + 2 208 c.106G>A c.(106-108)Ggc>Agc p.G36S NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 36 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity p.G36S(1) endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) AGTATCTTCAGGCAGACTATT 0.463000 50 33 0 0 0.048971 0 0 MUC16 94025 broad.mit.edu 37 19 9049248 9049248 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:9049248A>T ENST00000397910.4 - 5 32586 c.32383T>A c.(32383-32385)Tca>Aca p.S10795T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10797 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S10795T(1)|p.S6428T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGACCATTGAGGTCACCAAC 0.493000 76 25 0 0 0.048971 0 0 AKAP13 11214 broad.mit.edu 37 15 86236676 86236676 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:86236676T>A ENST00000394518.2 + 17 5553 c.5458T>A c.(5458-5460)Tgt>Agt p.C1820S AKAP13_ENST00000361243.2_Missense_Mutation_p.C1824S|AKAP13_ENST00000394510.2_Missense_Mutation_p.C65S|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1820 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.C1824S(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGCCTATACTTGTGCAAGTAA 0.463000 27 56 0 0 0.041601 0 0 MIR548I2 100302277 broad.mit.edu 37 4 9557832 9557832 + RNA SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:9557832C>A ENST00000408348.1 - 0 105 NR_031688.1 AGAAAAGATACtaggctggta 0.383000 11 55 9.70103e-10 1.2881e-09 0.069234 1 0 MAPKAPK3 7867 broad.mit.edu 37 3 50679165 50679165 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:50679165G>T ENST00000446044.1 + 6 983 c.387G>T c.(385-387)agG>agT p.R129S MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R129S NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 129 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.R129S(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TGTTCAGCAGGATTCAGGAGC 0.532000 16 24 4.14922e-12 5.81072e-12 0.028581 1 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158556 26158556 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:26158556C>A ENST00000289316.2 + 1 183 c.159C>A c.(157-159)acC>acA p.T53T HIST1H2BD_ENST00000377777.4_Silent_p.T53T NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 53 nucleosome assembly nucleosome|nucleus DNA binding p.T53T(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 ATCCCGACACCGGCATCTCTT 0.557000 91 75 6.04572e-29 1.12153e-28 0.048971 1 0 PLCG2 5336 broad.mit.edu 37 16 81925085 81925085 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:81925085G>A ENST00000359376.3 + 11 1090 c.876G>A c.(874-876)acG>acA p.T292T NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 292 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.T292T(2) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 AGTTCCTCACGTACCTGTTTT 0.512000 6 22 0 0 0.038147 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478730 14478730 + RNA SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:14478730G>C ENST00000581457.1 - 0 1178 NR_024076.1 CTGTGAGTCAGACAATTTTTG 0.358000 7 12 0 0 0.038147 0 0 PRSS36 146547 broad.mit.edu 37 16 31157191 31157191 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:31157191G>A ENST00000268281.4 - 6 697 c.639C>T c.(637-639)ccC>ccT p.P213P PRSS36_ENST00000569305.1_Silent_p.P213P|PRSS36_ENST00000418068.2_Silent_p.P213P NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 213 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity p.P213P(1) kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 TGAAGGGACCGGGCTGGCTGT 0.627000 26 26 0 0 0.099896 0 0 DDC 1644 broad.mit.edu 37 7 50605628 50605628 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:50605628A>C ENST00000444124.2 - 4 565 c.365T>G c.(364-366)cTc>cGc p.L122R DDC_ENST00000380984.4_Missense_Mutation_p.L122R|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Missense_Mutation_p.L122R|DDC_ENST00000357936.5_Missense_Mutation_p.L122R|DDC_ENST00000426377.1_Intron NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 122 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.L122R(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CATCTTCCCGAGCCAGTCCAT 0.552000 17 16 0 0 0.033300 0 0 FER 2241 broad.mit.edu 37 5 108203468 108203468 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:108203468G>T ENST00000281092.4 + 6 866 c.481_splice c.e6-1 p.G161_splice FER_ENST00000536402.1_Splice_Site_p.G161_splice|FER_ENST00000438717.2_5'UTR NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 161 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity p.G161V(1) NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TTTTTTTCAGGGAAGGAAACT 0.338000 11 16 0.000978159 0.00105926 0.080935 1 0 RYR3 6263 broad.mit.edu 37 15 33991938 33991938 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:33991938C>T ENST00000389232.4 + 41 6353 c.6283C>T c.(6283-6285)Cgt>Tgt p.R2095C RYR3_ENST00000415757.3_Missense_Mutation_p.R2095C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2095 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R2095C(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TAGCTGCTGCCGTTTCCTTTG 0.443000 15 7 0 0 0.020292 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332676 100332676 + RNA SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:100332676G>A ENST00000341853.1 - 0 1515 NR_003260.1 p.G98E(1) GGACATGGAGGAGATGAAGGT 0.607000 10 40 0 0 0.080935 0 0 SLC38A8 146167 broad.mit.edu 37 16 84067060 84067060 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:84067060G>T ENST00000299709.3 - 3 402 c.403C>A c.(403-405)Ctg>Atg p.L135M NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 135 amino acid transport|sodium ion transport integral to membrane p.L135M(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GTGCCAGACAGGAGGGAGTCA 0.682000 24 26 6.12954e-19 1.0378e-18 0.099896 1 0 MURC 347273 broad.mit.edu 37 9 103348395 103348395 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:103348395G>T ENST00000307584.5 + 2 822 c.757G>T c.(757-759)Gag>Tag p.E253* NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 253 cell differentiation|muscle organ development|transcription, DNA-dependent p.E253*(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) ACAGTCAGGGGAGAGGTTTAA 0.502000 17 72 2.35188e-11 3.237e-11 0.038395 1 0 RAI14 26064 broad.mit.edu 37 5 34803879 34803879 + Nonsense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:34803879C>T ENST00000265109.3 + 5 606 c.319C>T c.(319-321)Cag>Tag p.Q107* RAI14_ENST00000397449.1_Nonsense_Mutation_p.Q100*|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Nonsense_Mutation_p.Q110*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.Q107*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.Q99*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.Q107*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.Q107* NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 107 cell cortex|cytoskeleton protein binding p.Q107*(1) 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) GAAGCTGCTTCAGGTAAGCTG 0.363000 8 9 0 0 0.038147 0 0 RYR2 6262 broad.mit.edu 37 1 237870278 237870278 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237870278G>A ENST00000366574.2 + 68 9927 c.9610G>A c.(9610-9612)Gtt>Att p.V3204I RYR2_ENST00000360064.6_Missense_Mutation_p.V3202I|RYR2_ENST00000542537.1_Missense_Mutation_p.V3188I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3204 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.V3202I(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTGGAAGATGTTTGTCCAAA 0.418000 35 94 0 0 0.080422 0 0 BRSK2 9024 broad.mit.edu 37 11 1464734 1464734 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:1464734G>T ENST00000308219.9 + 8 1035 c.649G>T c.(649-651)Gac>Tac p.D217Y BRSK2_ENST00000531197.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000528841.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000382179.1_Missense_Mutation_p.D263Y|BRSK2_ENST00000526678.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000528710.1_Missense_Mutation_p.D157Y|BRSK2_ENST00000308230.5_Missense_Mutation_p.D217Y NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 217 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.D217Y(2) endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) TCTGCCCTTCGACGATGACAA 0.677000 8 3 5.18039e-06 6.03907e-06 0.038147 1 0 CPSF1 29894 broad.mit.edu 37 8 145634558 145634558 + Splice_Site SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:145634558T>A ENST00000349769.3 - 2 81 c.e2-2 NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAACCCGGGCTGCGCAAGGCC 0.711000 60 42 0 0 0.048971 0 0 ZNF451 26036 broad.mit.edu 37 6 57012581 57012581 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:57012581A>G ENST00000370706.4 + 10 1942 c.1698A>G c.(1696-1698)gtA>gtG p.V566V RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Silent_p.V566V|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Silent_p.V566V|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.V566V(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGGATGAGGTAGAAGGTGAAA 0.378000 55 44 0 0 0.048971 0 0 PADI1 29943 broad.mit.edu 37 1 17548815 17548815 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:17548815G>T ENST00000375471.4 + 2 215 c.123G>T c.(121-123)agG>agT p.R41S NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 41 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.R41I(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) ACAGCTTCAGGGTCTCTGGAA 0.582000 11 40 3.86212e-05 4.35936e-05 0.069234 1 0 THAP5 168451 broad.mit.edu 37 7 108205269 108205269 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:108205269T>A ENST00000415914.3 - 3 707 c.554A>T c.(553-555)aAc>aTc p.N185I THAP5_ENST00000313516.5_Missense_Mutation_p.N143I|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 185 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding p.N23I(1)|p.N185I(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 TGTATCTTGGTTAACTGATGT 0.333000 11 28 0 0 0.093190 0 0 ZNF497 162968 broad.mit.edu 37 19 58867550 58867550 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:58867550G>A ENST00000311044.3 - 3 1640 c.1452C>T c.(1450-1452)aaC>aaT p.N484N ZNF497_ENST00000425453.3_Silent_p.N484N|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N484N(1) central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCTCGTTGAGGTTGCAACGGT 0.701000 10 6 0 0 0.080935 0 0 GALNT13 114805 broad.mit.edu 37 2 155252566 155252566 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:155252566G>T ENST00000392825.3 + 10 1787 c.1220G>T c.(1219-1221)tGt>tTt p.C407F GALNT13_ENST00000409237.1_Missense_Mutation_p.C407F|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 407 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.C407F(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AATCTGAAGTGTAAGCCCTTT 0.373000 13 29 1.5842e-08 2.04826e-08 0.105934 1 0 LEPR 3953 broad.mit.edu 37 1 66102442 66102442 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:66102442G>T ENST00000349533.6 + 20 3427 c.3242G>T c.(3241-3243)gGg>gTg p.G1081V LEPR_ENST00000406510.3_Missense_Mutation_p.G148V NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1081 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity p.G1081V(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TATTATTTAGGGGTCACCTCA 0.413000 171 33 6.77334e-58 1.35045e-57 0.048971 1 0 CDH23 64072 broad.mit.edu 37 10 73572631 73572631 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:73572631G>A ENST00000224721.6 + 67 9637 c.9632G>A c.(9631-9633)cGt>cAt p.R3211H CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R966H NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3206 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.R3211H(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGATCATTCGTGAGGGGCCA 0.597000 14 9 0 0 0.028581 0 0 MCFD2 90411 broad.mit.edu 37 2 47136246 47136246 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:47136246G>A ENST00000409105.1 - 3 244 c.65C>T c.(64-66)cCa>cTa p.P22L MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.P22L|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000409218.1_Missense_Mutation_p.P22L|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.P22L|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000409207.1_Missense_Mutation_p.P22L NM_001171506.2 NP_001164977.1 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 22 post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding p.P22L(1) central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) CCTGGCGCCTGGGGCACAAAA 0.582000 11 30 0 0 0.093190 0 0 NEO1 4756 broad.mit.edu 37 15 73409019 73409019 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:73409019G>A ENST00000339362.5 + 3 716 c.269G>A c.(268-270)gGa>gAa p.G90E NEO1_ENST00000560262.1_Missense_Mutation_p.G90E|NEO1_ENST00000261908.6_Missense_Mutation_p.G90E|NEO1_ENST00000558964.1_Missense_Mutation_p.G90E Q92859 NEO1_HUMAN neogenin 1 90 Ig-like C2-type 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus p.G90E(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AAAAAAGATGGAACTTTTTTA 0.393000 32 96 0 0 0.064281 0 0 KLHL17 339451 broad.mit.edu 37 1 898278 898278 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:898278G>A ENST00000338591.3 + 6 1130 c.1023G>A c.(1021-1023)ggG>ggA p.G341G NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 341 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold p.G341G(1) central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGGGGCCGGGCCTGTGCTTT 0.677000 6 14 0 0 0.021553 0 0 AEBP1 165 broad.mit.edu 37 7 44148746 44148746 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:44148746C>T ENST00000223357.3 + 8 1364 c.1059C>T c.(1057-1059)acC>acT p.T353T AEBP1_ENST00000454218.1_3'UTR NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 353 cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T353T(1) NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGGAGGAGACCGACAAGTGGG 0.612000 8 14 0 0 0.069234 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232579372 232579372 + Nonsense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:232579372C>T ENST00000366630.1 - 11 3771 c.3413G>A c.(3412-3414)tGg>tAg p.W1138* SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.W1138*|SIPA1L2_ENST00000308942.4_Nonsense_Mutation_p.W212* Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1138 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.W1138*(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGTGGTCTCCAGGGTCCGCT 0.498000 16 24 0 0 0.033300 0 0 TAP1 6890 broad.mit.edu 37 6 32818283 32818283 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:32818283C>A ENST00000354258.4 - 5 1403 c.1242G>T c.(1240-1242)gtG>gtT p.V414V PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.V153V NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 414 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding p.V414V(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CCCGCACCTGCACTTCCAGCA 0.527000 7 25 2.0095e-06 2.38605e-06 0.029380 1 0 ZIM2 23619 broad.mit.edu 37 19 57286128 57286128 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:57286128G>A ENST00000391708.3 - 12 2054 c.1512C>T c.(1510-1512)ggC>ggT p.G504G AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Silent_p.G504G|ZIM2_ENST00000599935.1_Silent_p.G504G|ZIM2_ENST00000221722.5_Silent_p.G504G|ZIM2_ENST00000593711.1_Silent_p.G504G|AC006115.3_ENST00000595954.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 p.G504G(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ATGAGGGTCGGCCGAAACATT 0.438000 37 13 0 0 0.069456 0 0 RBM14 10432 broad.mit.edu 37 11 66392833 66392833 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:66392833G>T ENST00000310137.4 + 2 1625 c.1486G>T c.(1486-1488)Ggc>Tgc p.G496C RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 496 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity p.G496C(1) RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TGCGGCCACTGGCTCCTATGG 0.627000 87 42 5.86298e-51 1.1617e-50 0.048971 1 0 LYPD6B 130576 broad.mit.edu 37 2 150069541 150069541 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:150069541A>T ENST00000409642.3 + 6 765 c.364A>T c.(364-366)Agc>Tgc p.S122C LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409029.1_Missense_Mutation_p.S98C|LYPD6B_ENST00000409876.1_Missense_Mutation_p.S98C|LYPD6B_ENST00000280115.7_Missense_Mutation_p.S122C NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 98 UPAR/Ly6. anchored to membrane|plasma membrane p.S122C(1) endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TCACTTCACCAGCCACGGAAG 0.408000 19 21 0 0 0.049695 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323135 79323135 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:79323135G>C ENST00000428286.1 - 8 4178 c.2978C>G c.(2977-2979)gCc>gGc p.A993G PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1352G Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1352 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.A1352G(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AATCCCTGAGGCATTCTCCAC 0.502000 25 24 0 0 0.099896 0 0 PREPL 9581 broad.mit.edu 37 2 44553863 44553863 + Silent SNP C C A rs140525819 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:44553863C>A ENST00000541738.1 - 10 1853 c.1467G>T c.(1465-1467)gcG>gcT p.A489A PREPL_ENST00000378511.3_Silent_p.A516A|PREPL_ENST00000378520.3_Silent_p.A512A|PREPL_ENST00000410081.1_Silent_p.A578A|PREPL_ENST00000409272.1_Silent_p.A578A|PREPL_ENST00000260648.6_Silent_p.A578A|PREPL_ENST00000409936.1_Silent_p.A578A|PREPL_ENST00000409411.1_Silent_p.A489A|PREPL_ENST00000409957.1_Silent_p.A489A NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 578 proteolysis cytosol serine-type endopeptidase activity p.A578A(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCAAAGTCACCGCTCTCACCA 0.483000 18 54 5.26018e-13 7.54824e-13 0.062417 1 0 LGI1 9211 broad.mit.edu 37 10 95557473 95557473 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:95557473C>T ENST00000371418.4 + 8 1847 c.1587C>T c.(1585-1587)tcC>tcT p.S529S LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.S481S NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 529 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding p.S529S(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) CACATGTGTCCATTAATAAGC 0.353000 35 65 0 0 0.054565 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54596898 54596898 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:54596898G>T ENST00000474759.1 + 6 664 c.616G>T c.(616-618)Gac>Tac p.D206Y CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D206Y|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D206Y|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D112Y NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 206 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.D206Y(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTTTGACCGTGACCCATCTCT 0.408000 9 17 1.12685e-05 1.29477e-05 0.047766 1 0 RYR2 6262 broad.mit.edu 37 1 237670064 237670064 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237670064C>A ENST00000366574.2 + 23 2985 c.2668C>A c.(2668-2670)Cat>Aat p.H890N RYR2_ENST00000360064.6_Missense_Mutation_p.H888N|RYR2_ENST00000542537.1_Missense_Mutation_p.H874N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 890 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.H888N(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAGAATATCCATGAACTCTG 0.333000 13 10 3.45872e-05 3.92479e-05 0.028581 1 0 ATM 472 broad.mit.edu 37 11 108137952 108137952 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:108137952G>T ENST00000278616.4 + 17 2906 c.2521G>T c.(2521-2523)Gat>Tat p.D841Y ATM_ENST00000452508.2_Missense_Mutation_p.D841Y NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 841 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.D841Y(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AATGGAAGATGATACTAATGG 0.403000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 22 19 8.10497e-08 1.02311e-07 0.055883 1 0 GRIK2 2898 broad.mit.edu 37 6 102372516 102372516 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:102372516C>A ENST00000369138.1 + 12 2279 c.1789C>A c.(1789-1791)Cct>Act p.P597T GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Missense_Mutation_p.P548T|GRIK2_ENST00000421544.1_Missense_Mutation_p.P597T|GRIK2_ENST00000318991.6_Missense_Mutation_p.P597T|GRIK2_ENST00000413795.1_Missense_Mutation_p.P597T NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 597 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.P597N(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCCTTGCAACCCTGACTCAGA 0.398000 26 50 3.73148e-12 5.26023e-12 0.034045 1 0 CUX2 23316 broad.mit.edu 37 12 111785649 111785649 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:111785649C>A ENST00000261726.6 + 22 4135 c.3981C>A c.(3979-3981)ccC>ccA p.P1327P NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1327 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P1327P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCAAGGTCCCCCCAAAGAGG 0.622000 5 58 1.23904e-05 1.41858e-05 0.014758 1 0 PCDHB10 56126 broad.mit.edu 37 5 140572519 140572519 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140572519G>C ENST00000239446.4 + 1 578 c.394G>C c.(394-396)Gta>Cta p.V132L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 132 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.V132L(1) 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) TCACGCGCCAGTATTTCAGGA 0.403000 39 63 0 0 0.080422 0 0 EFCAB6 64800 broad.mit.edu 37 22 44107437 44107437 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:44107437C>A ENST00000262726.7 - 10 1202 c.949G>T c.(949-951)Gtg>Ttg p.V317L EFCAB6_ENST00000396231.2_Missense_Mutation_p.V165L|EFCAB6_ENST00000358439.4_Missense_Mutation_p.V211L NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 317 EF-hand 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.V317L(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTAAAAGACACGTAGCCACCT 0.373000 20 12 2.39187e-15 3.73032e-15 0.049695 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140752016 140752016 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140752016G>A ENST00000576222.1 + 1 2186 c.2055G>A c.(2053-2055)caG>caA p.Q685Q PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACCCTCAGGCGGAGCTAC 0.567000 29 37 0 0 0.037714 0 0 EPHX2 2053 broad.mit.edu 37 8 27364421 27364421 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:27364421G>T ENST00000521400.1 + 5 1000 c.570G>T c.(568-570)ctG>ctT p.L190L EPHX2_ENST00000380476.3_Silent_p.L137L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Silent_p.L190L|EPHX2_ENST00000521780.1_Silent_p.L124L NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 190 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity p.L190L(1) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GGGCTAATCTGAAGCCAGCCC 0.498000 19 29 9.7654e-05 0.000109073 0.043863 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86537030 86537030 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:86537030C>A ENST00000450689.2 - 18 2699 c.2514G>T c.(2512-2514)agG>agT p.R838S KIAA1324L_ENST00000297222.6_Missense_Mutation_p.R598S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.R671S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R767S NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 838 integral to membrane p.R598S(1)|p.R838S(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TAGGATTACACCTCATTTTCA 0.358000 31 36 2.61193e-14 3.92403e-14 0.041601 1 0 SLC6A17 388662 broad.mit.edu 37 1 110717483 110717483 + Silent SNP G G C rs142547110 by1000genomes TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:110717483G>C ENST00000331565.4 + 5 1139 c.654G>C c.(652-654)tcG>tcC p.S218S NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 218 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.E219*(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) ACTCCATCTCGGAGAGTGGGG 0.577000 9 18 0 0 0.058154 0 0 GOLGA5 9950 broad.mit.edu 37 14 93275695 93275695 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:93275695A>C ENST00000163416.2 + 4 1079 c.823A>C c.(823-825)Aag>Cag p.K275Q GOLGA5_ENST00000355976.2_Missense_Mutation_p.K275Q NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 275 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding p.K275Q(1) large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) TGACCATTCAAAGAGTGATCG 0.398000 T RET papillary thyroid 48 8 0 0 0.048971 0 0 GTDC1 79712 broad.mit.edu 37 2 144966344 144966344 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:144966344C>A ENST00000409214.1 - 4 283 c.5G>T c.(4-6)aGt>aTt p.S2I GTDC1_ENST00000392867.3_Missense_Mutation_p.S2I|GTDC1_ENST00000392869.1_Missense_Mutation_p.S2I|GTDC1_ENST00000409298.1_Missense_Mutation_p.S2I|GTDC1_ENST00000241391.5_Missense_Mutation_p.S2I|GTDC1_ENST00000542155.1_Missense_Mutation_p.S2I|GTDC1_ENST00000344850.4_Missense_Mutation_p.S2I|GTDC1_ENST00000463875.2_Intron NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 2 biosynthetic process transferase activity, transferring glycosyl groups p.S2I(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) GATGAGGATACTCATTGGCCC 0.343000 12 33 0.000151284 0.000168386 0.105934 1 0 F7 2155 broad.mit.edu 37 13 113773184 113773184 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:113773184C>A ENST00000375581.3 + 9 1298 c.1263C>A c.(1261-1263)atC>atA p.I421I F7_ENST00000346342.3_Silent_p.I399I|F7_ENST00000541084.1_Silent_p.I352I NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 421 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity p.I421I(1) large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TGACGGGCATCGTCAGCTGGG 0.642000 4 11 0.00909568 0.00940426 0.009096 1 0 PRMT6 55170 broad.mit.edu 37 1 107600389 107600389 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:107600389G>C ENST00000361318.5 + 1 1123 c.875G>C c.(874-876)cGt>cCt p.R292P PRMT6_ENST00000370078.1_Missense_Mutation_p.R351P NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 351 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.R292P(1) biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GACAACCCCCGTCGCCTGCGC 0.602000 6 12 0 0 0.029380 0 0 BIRC6 57448 broad.mit.edu 37 2 32836633 32836633 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:32836633A>G ENST00000421745.2 + 73 14512 c.14378A>G c.(14377-14379)cAt>cGt p.H4793R NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4793 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.H4765R(1)|p.H4793R(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATGTCTCACCATGCAGCAGCT 0.458000 8 17 0 0 0.058154 0 0 KAT2A 2648 broad.mit.edu 37 17 40271406 40271406 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:40271406G>A ENST00000225916.5 - 6 983 c.930C>T c.(928-930)cgC>cgT p.R310R NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 310 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity p.R310R(1) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TGGTTTCGTAGCGGGGGAGGC 0.587000 56 22 0 0 0.048971 0 0 LRP1B 53353 broad.mit.edu 37 2 140995809 140995809 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:140995809C>A ENST00000389484.3 - 89 14443 c.13472G>T c.(13471-13473)gGc>gTc p.G4491V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4491 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G4491V(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGATGGATTGCCAATTTCTAC 0.313000 TSP Lung(27;0.18) 23 21 3.62473e-10 4.88385e-10 0.062417 1 0 PKD1L1 168507 broad.mit.edu 37 7 47842854 47842854 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:47842854C>T ENST00000289672.2 - 53 7966 c.7916G>A c.(7915-7917)tGc>tAc p.C2639Y C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2639 cell-cell adhesion integral to membrane p.C2639Y(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CATGGAGGAGCAGGATGCCAT 0.483000 9 39 0 0 0.058154 0 0 PRDM12 59335 broad.mit.edu 37 9 133542010 133542010 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:133542010C>G ENST00000253008.2 + 2 299 c.239C>G c.(238-240)tCc>tGc p.S80C NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S80C(1) kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) CAGAAGCTGTCCAGCCTGGTG 0.687000 27 24 0 0 0.108266 0 0 MTMR6 9107 broad.mit.edu 37 13 25840081 25840081 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:25840081C>A ENST00000381801.5 - 5 1228 c.467G>T c.(466-468)tGt>tTt p.C156F MTMR6_ENST00000540661.1_Missense_Mutation_p.C156F NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 156 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.C156F(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTAAGTTTCACAAATCTGTAA 0.353000 16 60 3.52763e-06 4.16547e-06 0.033300 1 0 NFATC3 4775 broad.mit.edu 37 16 68156481 68156481 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:68156481G>T ENST00000349223.5 + 2 919 c.695G>T c.(694-696)gGa>gTa p.G232V NFATC3_ENST00000575270.1_Missense_Mutation_p.G232V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.G232V|NFATC3_ENST00000329524.4_Missense_Mutation_p.G232V NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 232 3 X SP repeats. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding p.G232V(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TATGGACTTGGACACTCATTA 0.557000 12 45 0.00136819 0.00146674 0.093190 1 0 KIR2DL3 3804 broad.mit.edu 37 19 55263202 55263202 + Nonsense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:55263202A>T ENST00000342376.3 + 6 848 c.817A>T c.(817-819)Aaa>Taa p.K273* KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 p.K273*(1) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CTGCAACAAAAAAAGTAAGTC 0.532000 28 11 0 0 0.034045 0 0 C1orf173 127254 broad.mit.edu 37 1 75055645 75055645 + Nonsense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:75055645T>A ENST00000326665.5 - 12 2064 c.1846A>T c.(1846-1848)Aga>Tga p.R616* RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.R419* NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 616 Glu-rich. p.R616*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GATGACCTTCTGGCACTTTCA 0.443000 102 29 0 0 0.048971 0 0 FAM160A2 84067 broad.mit.edu 37 11 6244992 6244992 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:6244992G>A ENST00000265978.4 - 3 983 c.625C>T c.(625-627)Cgt>Tgt p.R209C FAM160A2_ENST00000524416.1_Missense_Mutation_p.R209C|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R209C NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 209 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding p.R209C(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGAAGAAGACGGGGAGCGGCT 0.582000 78 40 0 0 0.048971 0 0 DGKI 9162 broad.mit.edu 37 7 137263069 137263069 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:137263069C>A ENST00000453654.1 - 16 1284 c.745G>T c.(745-747)Gca>Tca p.A249S DGKI_ENST00000288490.5_Missense_Mutation_p.A549S|DGKI_ENST00000446122.1_Missense_Mutation_p.A549S|DGKI_ENST00000424189.2_Missense_Mutation_p.A549S O75912 DGKI_HUMAN diacylglycerol kinase, iota 549 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 p.A549S(2) 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 TCTGGATTTGCTTCTGTGAAA 0.378000 6 37 0.00198382 0.00210554 0.029380 1 0 GLCCI1 113263 broad.mit.edu 37 7 8062174 8062174 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:8062174G>T ENST00000223145.5 + 3 1228 c.671G>T c.(670-672)tGg>tTg p.W224L GLCCI1_ENST00000474269.1_3'UTR NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 224 p.W224M(1) endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TCTGCGTCATGGGGGAGTGCT 0.363000 16 10 7.45023e-12 1.0343e-11 0.055883 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242305 87242305 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:87242305C>G ENST00000297524.3 - 1 305 c.202G>C c.(202-204)Gca>Cca p.A68P SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A68P NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 68 integral to membrane amino acid transmembrane transporter activity p.A68L(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CTTATCTCTGCAGAGCAAAGA 0.478000 41 32 0 0 0.098360 0 0 KCNC1 3746 broad.mit.edu 37 11 17794029 17794029 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:17794029C>A ENST00000379472.3 + 2 1418 c.1388C>A c.(1387-1389)cCa>cAa p.P463Q KCNC1_ENST00000265969.6_Missense_Mutation_p.P463Q NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 463 voltage-gated potassium channel complex voltage-gated potassium channel activity p.P463Q(2) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ATTCCGCGGCCACCGCAGCTG 0.468000 14 56 6.72482e-11 9.17673e-11 0.024245 1 0 YTHDF1 54915 broad.mit.edu 37 20 61834033 61834033 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:61834033C>A ENST00000370339.3 - 4 1600 c.1259G>T c.(1258-1260)cGc>cTc p.R420L YTHDF1_ENST00000370333.4_Missense_Mutation_p.R370L|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 420 YTH. p.R420L(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GCTGTCCAGGCGCTTGTTGCC 0.567000 33 40 9.17885e-22 1.62728e-21 0.059317 1 0 TMCO4 255104 broad.mit.edu 37 1 20009803 20009803 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:20009803C>A ENST00000294543.6 - 16 1876 c.1635G>T c.(1633-1635)caG>caT p.Q545H TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q505H|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q545H NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 545 integral to membrane p.Q545L(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CAGCTGCTGCCTGGCGAGGCT 0.662000 27 26 5.77227e-19 9.79908e-19 0.037714 1 0 C1orf105 92346 broad.mit.edu 37 1 172425555 172425555 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:172425555G>T ENST00000367727.4 + 4 397 c.198_splice c.e4-1 p.A67_splice C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Splice_Site_p.A57_splice NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 67 p.?(1) large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 TTCCCCTCAGGCCAGGAGGAA 0.512000 18 71 5.45024e-15 8.42549e-15 0.083992 1 0 ATIC 471 broad.mit.edu 37 2 216213880 216213880 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:216213880G>T ENST00000435675.1 + 14 1955 c.1564G>T c.(1564-1566)Gag>Tag p.E522* ATIC_ENST00000540518.1_Nonsense_Mutation_p.E464*|ATIC_ENST00000236959.9_Nonsense_Mutation_p.E523* P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 523 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity p.E523*(1) ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CACTGAGGCAGAGAAGAAGGA 0.448000 T ALK ALCL 25 30 1.42536e-11 1.97452e-11 0.099896 1 0 ANKH 56172 broad.mit.edu 37 5 14712990 14712990 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:14712990C>T ENST00000284268.6 - 11 1688 c.1358G>A c.(1357-1359)cGg>cAg p.R453Q ANKH_ENST00000535119.1_Missense_Mutation_p.R255Q NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 453 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity p.R453Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CACCTGCTTCCGGTAGACATA 0.657000 3 6 0 0 0.009096 0 0 NLRP3 114548 broad.mit.edu 37 1 247588117 247588117 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:247588117C>A ENST00000366497.2 + 4 2152 c.1372C>A c.(1372-1374)Cag>Aag p.Q458K NLRP3_ENST00000366496.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q458K|NLRP3_ENST00000336119.3_Missense_Mutation_p.Q458K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q458K NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 458 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.Q458K(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGGAGGGAGCCAGGAGCACGG 0.597000 6 22 0.00198382 0.00210554 0.029380 1 0 EBF3 253738 broad.mit.edu 37 10 131666055 131666055 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:131666055C>T ENST00000368648.3 - 9 948 c.876G>A c.(874-876)gtG>gtA p.V292V EBF3_ENST00000355311.5_Silent_p.V301V NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 301 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.V292V(1)|p.V301V(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCTCGCTCCACACCAACATAG 0.532000 16 18 0 0 0.024245 0 0 IQGAP3 128239 broad.mit.edu 37 1 156532439 156532439 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:156532439C>A ENST00000361170.2 - 9 827 c.817G>T c.(817-819)Gac>Tac p.D273Y NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 273 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.D273Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCATAGATGTCCTGGCTTTCT 0.488000 30 42 4.65686e-17 7.50729e-17 0.064281 1 0 SLC17A1 6568 broad.mit.edu 37 6 25813179 25813179 + Silent SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:25813179A>C ENST00000244527.4 - 8 892 c.777T>G c.(775-777)ctT>ctG p.L259L SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Silent_p.L259L NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 259 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.L259L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GAAGCGACTTAAGTATAGCCT 0.383000 30 23 0 0 0.064281 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34097814 34097814 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:34097814G>C ENST00000341394.4 + 5 587 c.398G>C c.(397-399)cGg>cCg p.R133P CAPRIN1_ENST00000529307.1_Missense_Mutation_p.R52P|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.R133P|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.R133P|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.R133P NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 133 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding p.R133P(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) ACAGCACGTCGGGAGCAGCTT 0.353000 8 45 0 0 0.047766 0 0 C10orf137 26098 broad.mit.edu 37 10 127441455 127441455 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:127441455A>G ENST00000337623.3 + 22 3368 c.3263A>G c.(3262-3264)cAg>cGg p.Q1088R C10orf137_ENST00000356792.4_Missense_Mutation_p.Q1122R NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 1122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding p.Q1088R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAGCTTATCCAGAAGGAGCTT 0.388000 17 38 0 0 0.038395 0 0 ORC5 5001 broad.mit.edu 37 7 103838232 103838232 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103838232C>A ENST00000297431.4 - 4 524 c.382G>T c.(382-384)Gag>Tag p.E128* ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000447452.2_Nonsense_Mutation_p.E128*|ORC5_ENST00000485726.1_5'UTR NM_002553.3 NP_002544.1 O43913 ORC5_HUMAN origin recognition complex, subunit 5 128 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding p.E128*(2) kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 CTTAGATACTCTGCTTTATCT 0.323000 20 16 2.39556e-15 3.73032e-15 0.076483 1 0 KIF2B 84643 broad.mit.edu 37 17 51900573 51900573 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:51900573G>T ENST00000268919.4 + 1 335 c.179G>T c.(178-180)tGg>tTg p.W60L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 60 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.W60L(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACGGTAGAGTGGGTGGAGAAA 0.552000 51 14 4.86159e-25 8.76456e-25 0.048971 1 0 GRSF1 2926 broad.mit.edu 37 4 71701992 71701992 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:71701992G>A ENST00000254799.6 - 2 514 c.397C>T c.(397-399)Cct>Tct p.P133S GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.P15S|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 133 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding p.P133S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) TCATACTCAGGGGGTGGTGGA 0.423000 7 41 0 0 0.038147 0 0 PCDH17 27253 broad.mit.edu 37 13 58207410 58207410 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:58207410G>T ENST00000377918.3 + 1 756 c.730G>T c.(730-732)Gag>Tag p.E244* NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 244 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.E244*(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCGGTCTTCGAGGCGCCATC 0.607000 27 21 1.2476e-16 1.99118e-16 0.030593 1 0 ZNF665 79788 broad.mit.edu 37 19 53669454 53669454 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:53669454C>G ENST00000600412.1 - 2 209 c.94G>C c.(94-96)Gac>Cac p.D32H ZNF665_ENST00000396424.3_Missense_Mutation_p.D97H Q9H7R5 ZN665_HUMAN zinc finger protein 665 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D97H(1)|p.D32H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) CACTCAAAGTCGTATGTATTT 0.403000 115 32 0 0 0.048971 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651688 1651688 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:1651688A>T ENST00000399676.2 + 1 656 c.618A>T c.(616-618)tcA>tcT p.S206S NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 206 8 X 4 AA repeats of C-C-X-P. keratin filament p.S206S(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCTGCTTCTCAGGCTGTGGAT 0.592000 101 60 0 0 0.048971 0 0 ZNF728 388523 broad.mit.edu 37 19 23159167 23159167 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:23159167G>T ENST00000594710.1 - 4 1117 c.972C>A c.(970-972)tcC>tcA p.S324S NM_001267716.1 NP_001254645.1 zinc finger protein 728 TAAGGTTTGAGGACCGGTTGA 0.423000 48 18 1.23103e-26 2.25747e-26 0.045515 1 0 FAM131B 9715 broad.mit.edu 37 7 143057165 143057165 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:143057165G>T ENST00000409408.1 - 1 1730 c.22C>A c.(22-24)Cac>Aac p.H8N FAM131B_ENST00000409578.1_Missense_Mutation_p.H36N|FAM131B_ENST00000409346.1_Missense_Mutation_p.H8N|FAM131B_ENST00000409222.3_Missense_Mutation_p.H8N|FAM131B_ENST00000443739.2_Missense_Mutation_p.H36N Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 8 p.H8N(1)|p.H36N(1) breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CTGCTCCCGTGCAGTGAGCTG 0.572000 6 13 5.18039e-06 6.03907e-06 0.038147 1 0 CSMD2 114784 broad.mit.edu 37 1 34038154 34038154 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:34038154G>T ENST00000373381.4 - 50 7890 c.7714C>A c.(7714-7716)Ctg>Atg p.L2572M NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2574 Sushi 15. integral to membrane|plasma membrane protein binding p.L2574M(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCTGTGTCCAGACACTCTGCA 0.587000 52 41 3.50607e-19 5.98369e-19 0.048971 1 0 PSG7 5676 broad.mit.edu 37 19 43433838 43433838 + RNA SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:43433838A>G ENST00000446844.3 - 0 554 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGGGGTTGAAATTGCTGCTGG 0.522000 127 31 0 0 0.048971 0 0 SLC6A19 340024 broad.mit.edu 37 5 1208962 1208962 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:1208962G>T ENST00000304460.10 + 2 360 c.304G>T c.(304-306)Ggt>Tgt p.G102C NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 102 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.G102C(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGCAGCCTGGGTGTGTGGAG 0.682000 9 24 0.00621372 0.006498 0.058154 1 0 BOD1L1 259282 broad.mit.edu 37 4 13601770 13601770 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:13601770C>A ENST00000040738.5 - 10 6889 c.6754G>T c.(6754-6756)Ggg>Tgg p.G2252W NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2252 DNA binding p.G2252W(1) ATGCCACTCCCGTCTTTTTCT 0.527000 9 11 0.00448238 0.00471055 0.047766 1 0 UGT2B10 7365 broad.mit.edu 37 4 69682288 69682288 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:69682288G>C ENST00000265403.7 + 1 578 c.551G>C c.(550-552)gGa>gCa p.G184A UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 184 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G184A(2) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AGGCACAGTGGAGGATTTATT 0.413000 50 49 0 0 0.048971 0 0 C6orf15 29113 broad.mit.edu 37 6 31079369 31079369 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:31079369T>C ENST00000259870.3 - 2 770 c.767A>G c.(766-768)tAt>tGt p.Y256C NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 256 Gly-rich. p.Y256C(1) endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GCCTCCTGGATACCGATTAAT 0.522000 27 20 0 0 0.041601 0 0 AKNA 80709 broad.mit.edu 37 9 117118346 117118346 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:117118346T>A ENST00000307564.4 - 14 3078 c.2917A>T c.(2917-2919)Agg>Tgg p.R973W AKNA_ENST00000374075.5_Missense_Mutation_p.R892W|AKNA_ENST00000374088.3_Missense_Mutation_p.R973W|AKNA_ENST00000223791.3_Missense_Mutation_p.R433W NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 973 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R973W(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AGAGAACCCCTGGCCTTGGGG 0.632000 22 26 0 0 0.062417 0 0 FGR 2268 broad.mit.edu 37 1 27949654 27949654 + Splice_Site SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:27949654C>T ENST00000374005.3 - 4 516 c.226_splice c.e4-1 p.G76_splice FGR_ENST00000545953.1_Splice_Site_p.G76_splice|FGR_ENST00000374004.1_Splice_Site_p.G76_splice|FGR_ENST00000399173.1_Splice_Site_p.G76_splice NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 76 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity p.G76G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCACCCCAATCCCTGCAGAGT 0.572000 7 15 0 0 0.029380 0 0 MYBL1 4603 broad.mit.edu 37 8 67509761 67509761 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:67509761C>A ENST00000522677.3 - 5 726 c.316G>T c.(316-318)Ggg>Tgg p.G106W MYBL1_ENST00000517885.1_Splice_Site_p.G106_splice|MYBL1_ENST00000524176.2_Missense_Mutation_p.G106W NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 106 HTH myb-type 2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G106W(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CTTTTTGGCCCATATTTCTGA 0.299000 23 27 2.89027e-11 3.96947e-11 0.069288 1 0 KANK4 163782 broad.mit.edu 37 1 62739527 62739527 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:62739527C>A ENST00000371153.4 - 3 1627 c.1249G>T c.(1249-1251)Gac>Tac p.D417Y KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 417 p.D417Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TGGACAGGGTCAGTGTTCACC 0.537000 32 414 3.21399e-22 5.71377e-22 0.074837 1 0 TBC1D19 55296 broad.mit.edu 37 4 26661218 26661218 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:26661218G>T ENST00000264866.4 + 8 758 c.e8-1 TBC1D19_ENST00000511789.1_Splice_Site|TBC1D19_ENST00000515568.1_Splice_Site NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 intracellular Rab GTPase activator activity p.?(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) TGTTTTTAAAGGTATTAATTA 0.303000 4 32 0.00909568 0.00940426 0.009096 1 0 ZNF671 79891 broad.mit.edu 37 19 58238788 58238788 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:58238788G>C ENST00000317398.6 - 1 204 c.109C>G c.(109-111)Cct>Gct p.P37A AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.P37A|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P37A(1) kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCGCCATAGGACCGTGGGCG 0.687000 15 3 0 0 0.038395 0 0 NLRP3 114548 broad.mit.edu 37 1 247586625 247586625 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:247586625G>T ENST00000366497.2 + 3 1157 c.377G>T c.(376-378)aGa>aTa p.R126I NLRP3_ENST00000366496.2_Missense_Mutation_p.R126I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R126I|NLRP3_ENST00000336119.3_Missense_Mutation_p.R126I|NLRP3_ENST00000348069.2_Missense_Mutation_p.R126I|NLRP3_ENST00000391827.2_Missense_Mutation_p.R126I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 126 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.R126I(1)|p.R126K(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TACCTTTCGAGAATCTCTATT 0.458000 20 62 5.49717e-05 6.18311e-05 0.083992 1 0 SCN4A 6329 broad.mit.edu 37 17 62018356 62018356 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:62018356C>A ENST00000578147.1 - 24 5362 c.5286G>T c.(5284-5286)ggG>ggT p.G1762G SCN4A_ENST00000435607.1_Silent_p.G1762G P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1762 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1762G(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGCGTCATCCCCGCTGCCGT 0.622000 33 15 7.61165e-28 1.40794e-27 0.064281 1 0 POLR1B 84172 broad.mit.edu 37 2 113300233 113300233 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:113300233C>T ENST00000263331.5 + 1 742 c.162C>T c.(160-162)ctC>ctT p.L54L POLR1B_ENST00000541869.1_Silent_p.L92L|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000409894.3_Silent_p.L54L|POLR1B_ENST00000417433.2_Silent_p.L54L NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 54 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.L54L(1) breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 ACGAGGGTCTCGGCCTCGCGG 0.672000 15 16 0 0 0.028581 0 0 PCDH1 5097 broad.mit.edu 37 5 141248253 141248253 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:141248253T>A ENST00000287008.3 - 2 931 c.784A>T c.(784-786)Agc>Tgc p.S262C PCDH1_ENST00000394536.3_Missense_Mutation_p.S262C|PCDH1_ENST00000536585.1_Missense_Mutation_p.S240C|PCDH1_ENST00000456271.1_Missense_Mutation_p.S250C|PCDH1_ENST00000503492.1_Missense_Mutation_p.S262C NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 262 Cadherin 2. S -> T (in Ref. 4; AAA36419). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding p.S262C(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) AGGGCACTGCTGGCGCGTGGG 0.607000 8 15 0 0 0.047766 0 0 FAM131B 9715 broad.mit.edu 37 7 143054044 143054044 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:143054044A>G ENST00000409408.1 - 6 2306 c.598T>C c.(598-600)Tcg>Ccg p.S200P FAM131B_ENST00000409578.1_Missense_Mutation_p.S216P|FAM131B_ENST00000409346.1_Missense_Mutation_p.S200P|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200P|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228P Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 200 p.S200P(1)|p.S228P(1) breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GCATCTGACGACCCCAGACAG 0.557000 5 30 0 0 0.021553 0 0 UNC45B 146862 broad.mit.edu 37 17 33491042 33491042 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:33491042G>T ENST00000268876.5 + 9 1105 c.1008G>T c.(1006-1008)ggG>ggT p.G336G UNC45B_ENST00000591048.1_Silent_p.G336G|UNC45B_ENST00000378449.1_Silent_p.G336G|UNC45B_ENST00000433649.1_Silent_p.G336G|UNC45B_ENST00000394570.2_Silent_p.G336G NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 336 cell differentiation|muscle organ development cytosol binding p.G336G(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AGGTTGTGGGGCAGGTTCCAG 0.567000 79 33 9.25274e-37 1.79447e-36 0.048971 1 0 CYP2E1 1571 broad.mit.edu 37 10 135352302 135352302 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:135352302G>T ENST00000463117.2 + 11 1588 c.1316G>T c.(1315-1317)gGa>gTa p.G439V CYP2E1_ENST00000252945.3_Missense_Mutation_p.G439V|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 439 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding p.G439V(1) NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GTGTGTGCTGGAGAAGGCCTG 0.468000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 51 80 1.22102e-19 2.11775e-19 0.048971 1 0 CCDC178 374864 broad.mit.edu 37 18 30903461 30903461 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:30903461G>T ENST00000383096.3 - 11 1198 c.1016C>A c.(1015-1017)gCc>gAc p.A339D CCDC178_ENST00000579947.1_Missense_Mutation_p.A339D|CCDC178_ENST00000403303.1_Missense_Mutation_p.A339D|CCDC178_ENST00000583930.1_Missense_Mutation_p.A339D|CCDC178_ENST00000402325.1_Missense_Mutation_p.A339D|CCDC178_ENST00000300227.8_Missense_Mutation_p.A339D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.A339D coiled-coil domain containing 178 p.A339E(2) TTACTTGTAGGCCTCTATGGT 0.284000 5 17 0.00116845 0.00125471 0.021553 1 0 AOX1 316 broad.mit.edu 37 2 201473757 201473757 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:201473757G>T ENST00000374700.2 + 11 1199 c.958G>T c.(958-960)Gct>Tct p.A320S NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 320 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.A320S(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGACATTTTGGCTGATGTAGT 0.498000 16 9 0.006122 0.00641257 0.038395 1 0 FPGT 8790 broad.mit.edu 37 1 74670277 74670277 + Silent SNP G G A rs139749795 byFrequency TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:74670277G>A ENST00000370898.2 + 4 583 c.546G>A c.(544-546)agG>agA p.R182R TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase p.R182R(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 AGTTTATTAGGTTTGACAAAC 0.353000 16 147 0 0 0.024245 0 0 ITGAD 3681 broad.mit.edu 37 16 31414948 31414948 + Missense_Mutation SNP C C A rs144787223 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:31414948C>A ENST00000389202.2 + 7 735 c.686C>A c.(685-687)aCg>aAg p.T229K RP11-120K18.2_ENST00000567545.1_RNA NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 229 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.T229K(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TTCACGGCCACGGGCATCCTG 0.607000 27 22 7.07758e-08 8.9874e-08 0.099896 1 0 PRRC2A 7916 broad.mit.edu 37 6 31599147 31599147 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:31599147C>T ENST00000376033.2 + 16 2931 c.2697C>T c.(2695-2697)ggC>ggT p.G899G PRRC2A_ENST00000376007.4_Silent_p.G899G NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 899 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.G899G(1) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CAGAAGCAGGCCGAAAGCCTG 0.667000 8 14 0 0 0.047766 0 0 CASC4 113201 broad.mit.edu 37 15 44630106 44630106 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:44630106G>T ENST00000299957.6 + 5 1020 c.e5+1 CASC4_ENST00000360824.3_Splice_Site|CASC4_ENST00000345795.2_Splice_Site NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 integral to membrane p.?(1) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CATGGGAAAGGTATTATTGTT 0.279000 16 24 3.52763e-06 4.16547e-06 0.033300 1 0 CD1D 912 broad.mit.edu 37 1 158152741 158152741 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:158152741A>T ENST00000368171.3 + 5 1180 c.681A>T c.(679-681)tcA>tcT p.S227S NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 227 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding p.S227S(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GCCATGTCTCAGGATTCTACC 0.617000 43 52 0 0 0.098360 0 0 ZNF532 55205 broad.mit.edu 37 18 56586014 56586014 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:56586014G>T ENST00000336078.4 + 4 1271 c.495G>T c.(493-495)acG>acT p.T165T ZNF532_ENST00000591808.1_Silent_p.T165T|ZNF532_ENST00000591230.1_Silent_p.T165T|ZNF532_ENST00000591083.1_Silent_p.T165T|ZNF532_ENST00000589288.1_Silent_p.T165T NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T165T(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 ATGTGTTGACGGGGTCGGCTC 0.527000 20 59 1.15919e-05 1.32953e-05 0.049695 1 0 ZNF536 9745 broad.mit.edu 37 19 31040278 31040278 + Missense_Mutation SNP C C A rs148378803 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:31040278C>A ENST00000355537.3 + 4 3899 c.3752C>A c.(3751-3753)cCg>cAg p.P1251Q NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.P1251Q(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGCCAAAGCCGGAGCGGGGG 0.612000 17 3 3.57192e-18 5.96875e-18 0.038395 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177268 89177268 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:89177268G>T ENST00000561129.2 + 1 314 c.184G>T c.(184-186)Gtt>Ttt p.V62F TGIF2LX_ENST00000283891.5_Missense_Mutation_p.V62F Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 62 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V62F(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 AGCCGAGTCCGTTAAGATCCT 0.468000 44 2 1.46156e-29 2.71918e-29 0.048971 1 0 RYR2 6262 broad.mit.edu 37 1 237948103 237948103 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237948103C>A ENST00000366574.2 + 90 13408 c.13091C>A c.(13090-13092)aCc>aAc p.T4364N RYR2_ENST00000360064.6_Missense_Mutation_p.T4370N|RYR2_ENST00000542537.1_Missense_Mutation_p.T4348N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4364 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.T4362N(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGGATCTGACCGACTTAAAG 0.527000 7 28 1.06961e-07 1.3449e-07 0.038147 1 0 HRG 3273 broad.mit.edu 37 3 186395105 186395105 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:186395105C>A ENST00000232003.4 + 7 1091 c.1011C>A c.(1009-1011)gcC>gcA p.A337A NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 337 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding p.A337A(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CAAATGGGGCCCAAAGACATT 0.502000 14 16 1.3612e-06 1.63754e-06 0.024245 1 0 ZNF236 7776 broad.mit.edu 37 18 74607043 74607043 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:74607043G>T ENST00000253159.8 + 10 1684 c.1486G>T c.(1486-1488)Gac>Tac p.D496Y ZNF236_ENST00000320610.9_Missense_Mutation_p.D498Y NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 496 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D496Y(2) NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAAGCCCAGCGACCTGGTCCG 0.652000 23 34 3.28513e-13 4.74601e-13 0.091800 1 0 DEF8 54849 broad.mit.edu 37 16 90032312 90032312 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:90032312C>T ENST00000563594.1 + 13 2294 c.1297C>T c.(1297-1299)Cgg>Tgg p.R433W DEF8_ENST00000569453.1_Missense_Mutation_p.R433W|DEF8_ENST00000268676.7_Missense_Mutation_p.R494W|DEF8_ENST00000563795.1_Missense_Mutation_p.R416W|DEF8_ENST00000570182.1_Missense_Mutation_p.R423W|DEF8_ENST00000567874.1_Missense_Mutation_p.R373W NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 494 intracellular signal transduction zinc ion binding p.R494W(1) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CAAGTGTGCCCGGCTCAGCCT 0.647000 5 17 0 0 0.014758 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242304 87242304 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:87242304G>A ENST00000297524.3 - 1 306 c.203C>T c.(202-204)gCa>gTa p.A68V SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A68V NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 68 integral to membrane amino acid transmembrane transporter activity p.A68L(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ACTTATCTCTGCAGAGCAAAG 0.478000 42 31 0 0 0.111260 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67242971 67242971 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:67242971G>T ENST00000282670.2 + 5 502 c.374G>T c.(373-375)cGg>cTg p.R125L NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 125 p.R125L(1) large_intestine(2)|lung(10)|skin(1) 13 ATGATTCCACGGTATAAACTA 0.383000 114 49 1.25929e-39 2.46467e-39 0.048971 1 0 DLGAP3 58512 broad.mit.edu 37 1 35334650 35334650 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:35334650C>T ENST00000373347.1 - 9 2309 c.2041G>A c.(2041-2043)Gtg>Atg p.V681M DLGAP3_ENST00000235180.4_Missense_Mutation_p.V681M O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 681 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.V681M(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TCTGCCTGCACGCCAGCCGTC 0.657000 5 9 0 0 0.021553 0 0 RIMS2 9699 broad.mit.edu 37 8 105235886 105235886 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:105235886C>A ENST00000339750.2 + 1 7 c.7C>A c.(7-9)Cgg>Agg p.R3R RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 0 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAGATGGGCCGGCAGGGCTT 0.706000 HNSCC(12;0.0054) 20 13 2.21704e-12 3.14613e-12 0.076483 1 0 PABPC1L 80336 broad.mit.edu 37 20 43552898 43552898 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:43552898G>T ENST00000255136.3 + 7 1054 c.e7+1 PABPC1L_ENST00000490798.1_Splice_Site|PABPC1L_ENST00000537323.1_Splice_Site|PABPC1L_ENST00000217074.4_Splice_Site|PABPC1L_ENST00000217073.2_Splice_Site NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like nucleotide binding|RNA binding p.?(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CAGTGCGAAGGTGAGGACTGG 0.577000 23 20 9.57634e-11 1.30124e-10 0.083992 1 0 KCNU1 157855 broad.mit.edu 37 8 36793073 36793073 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:36793073C>A ENST00000399881.3 + 27 3122 c.3085C>A c.(3085-3087)Cct>Act p.P1029T NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1029 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.P1029T(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CAAGCTGCTGCCTTCAGATCT 0.438000 56 58 2.40265e-35 4.6177e-35 0.048971 1 0 MAB21L3 126868 broad.mit.edu 37 1 116670876 116670876 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:116670876G>A ENST00000369500.3 + 6 1036 c.771G>A c.(769-771)agG>agA p.R257R NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 257 p.R257R(1) breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 GCTGCCGTAGGAAGTGTTTTC 0.552000 7 18 0 0 0.038147 0 0 HSD3B2 3284 broad.mit.edu 37 1 119962122 119962122 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:119962122T>A ENST00000543831.1 + 3 473 c.224T>A c.(223-225)gTc>gAc p.V75D HSD3B2_ENST00000369416.3_Missense_Mutation_p.V75D|HSD3B2_ENST00000471656.1_3'UTR NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 75 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.V75D(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TGCCAGGACGTCTCGGTCGTC 0.502000 10 16 0 0 0.058154 0 0 RYR3 6263 broad.mit.edu 37 15 33842464 33842464 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:33842464G>T ENST00000389232.4 + 10 989 c.919G>T c.(919-921)Gac>Tac p.D307Y RYR3_ENST00000415757.3_Missense_Mutation_p.D307Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 307 MIR 4. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.D307Y(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TATACTGCAAGACCGGGCAAA 0.512000 6 13 0.0293803 0.0300374 0.029380 1 0 GPR133 283383 broad.mit.edu 37 12 131487810 131487810 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:131487810G>A ENST00000261654.5 + 10 1666 c.1107G>A c.(1105-1107)acG>acA p.T369T GPR133_ENST00000376682.4_Silent_p.T55T|GPR133_ENST00000535015.1_Silent_p.T401T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 369 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T369T(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACGGCAGCACGCCCCAGGTCA 0.617000 55 18 0 0 0.048971 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739638 34739638 + RNA SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:34739638G>T ENST00000562591.1 - 0 284 NR_034019.1 ATTTAAATTTGTGTCTTCCAA 0.403000 3 5 0.00909568 0.00940426 0.009096 1 0 CRB1 23418 broad.mit.edu 37 1 197390204 197390204 + Translation_Start_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:197390204C>A ENST00000367397.1 + 0 247 CRB1_ENST00000367399.2_Missense_Mutation_p.P304T|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000538660.1_Missense_Mutation_p.P416T|CRB1_ENST00000367400.3_Missense_Mutation_p.P416T|CRB1_ENST00000535699.1_Missense_Mutation_p.P347T|CRB1_ENST00000543483.1_Missense_Mutation_p.P115T P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.P416T(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGAGAACTTGCCTGGGAATTA 0.408000 28 73 9.80776e-20 1.7057e-19 0.030593 1 0 FGFR1 2260 broad.mit.edu 37 8 38274924 38274924 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:38274924T>C ENST00000447712.2 - 12 2504 c.1563A>G c.(1561-1563)acA>acG p.T521T FGFR1_ENST00000397113.2_Silent_p.T519T|FGFR1_ENST00000326324.6_Silent_p.T430T|FGFR1_ENST00000425967.3_Silent_p.T552T|FGFR1_ENST00000397103.1_Silent_p.T432T|FGFR1_ENST00000532791.1_Silent_p.T519T|FGFR1_ENST00000335922.5_Silent_p.T511T|FGFR1_ENST00000397091.5_Silent_p.T519T|FGFR1_ENST00000356207.5_Silent_p.T432T|FGFR1_ENST00000397108.4_Silent_p.T519T|FGFR1_ENST00000341462.5_Silent_p.T521T NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 521 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.T521T(3)|p.T511T(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AGTCTTTCTCTGTTGCGTCCG 0.502000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 66 26 0 0 0.048971 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889461 23889461 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:23889461G>C ENST00000532292.1 - 1 1714 c.1620C>G c.(1618-1620)gtC>gtG p.V540V NM_019066.4 NP_061939.3 MAGE-like 2 p.V540V(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TTGTCTCCCGGACATCCAACC 0.458000 17 12 0 0 0.033300 0 0 LRFN5 145581 broad.mit.edu 37 14 42356124 42356124 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:42356124G>T ENST00000554171.1 + 5 2728 c.296G>T c.(295-297)cGa>cTa p.R99L LRFN5_ENST00000554120.1_Missense_Mutation_p.R99L|LRFN5_ENST00000298119.4_Missense_Mutation_p.R99L Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 99 integral to membrane p.R99L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCTGACCTACGAAATTTGAGG 0.358000 HNSCC(30;0.082) 22 67 1.64293e-13 2.39517e-13 0.083992 1 0 DNAAF3 352909 broad.mit.edu 37 19 55671298 55671298 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:55671298C>A ENST00000527223.2 - 10 1334 c.1333G>T c.(1333-1335)Ggc>Tgc p.G445C CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G425C|DNAAF3_ENST00000455045.1_Missense_Mutation_p.G324C|DNAAF3_ENST00000524407.2_Missense_Mutation_p.G378C|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.R39L NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 378 p.G425C(1) TGGAATCGGCCGTTGTAGCAG 0.627000 26 11 2.61193e-14 3.92403e-14 0.041601 1 0 DNAJC5B 85479 broad.mit.edu 37 8 66992626 66992626 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:66992626C>A ENST00000276570.5 + 5 635 c.348C>A c.(346-348)atC>atA p.I116I DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 116 protein folding membrane heat shock protein binding|unfolded protein binding p.I116I(1) endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) TGTTTGTCATCGTTGGCCTCT 0.557000 27 69 4.34311e-12 6.04258e-12 0.059317 1 0 ANKRD1 27063 broad.mit.edu 37 10 92678728 92678728 + Splice_Site SNP G G T rs142354133 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:92678728G>T ENST00000371697.3 - 4 595 c.345_splice c.e4-1 p.T116_splice NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 116 T -> M (in TAPVR). cellular lipid metabolic process|defense response|signal transduction DNA binding p.T116K(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) CACAGGTTCCGTCTAAAGCCA 0.363000 28 30 7.01153e-11 9.54762e-11 0.034045 1 0 TCP10L2 401285 broad.mit.edu 37 6 167592552 167592552 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:167592552A>T ENST00000366832.2 + 6 842 c.711A>T c.(709-711)ccA>ccT p.P237P NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 237 p.P237P(2) endometrium(1)|kidney(2)|lung(3) 6 GAAAATCACCAGTGCAGGCTT 0.577000 6 0 0 0 0.069234 0 0 TARSL2 123283 broad.mit.edu 37 15 102197239 102197239 + Splice_Site SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:102197239C>T ENST00000335968.3 - 18 2362 c.2145_splice c.e18-1 p.V716_splice TARSL2_ENST00000559492.1_5'UTR NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 716 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity p.?(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCACTGGATACCTAGAAGAAA 0.393000 17 17 0 0 0.028581 0 0 COL1A2 1278 broad.mit.edu 37 7 94052404 94052404 + Missense_Mutation SNP G G A rs72658196 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:94052404G>A ENST00000297268.6 + 40 3010 c.2539G>A c.(2539-2541)Ggt>Agt p.G847S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 847 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.G847S(1) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGAGAAGGGTCCCTCTGG 0.502000 HNSCC(75;0.22) 13 55 0 0 0.020292 0 0 PADI1 29943 broad.mit.edu 37 1 17548814 17548814 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:17548814G>T ENST00000375471.4 + 2 214 c.122G>T c.(121-123)aGg>aTg p.R41M NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 41 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.R41I(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) AACAGCTTCAGGGTCTCTGGA 0.577000 10 39 0.000442599 0.00048504 0.058154 1 0 SPRY3 10251 broad.mit.edu 37 X 155003584 155003584 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:155003584G>C ENST00000302805.2 + 2 482 c.51G>C c.(49-51)caG>caC p.Q17H NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 17 multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.Q17H(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTATTGAACAGCTGCGCTCTA 0.483000 35 72 0 0 0.059317 0 0 GUCY2C 2984 broad.mit.edu 37 12 14804340 14804340 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:14804340C>A ENST00000261170.3 - 15 1847 c.e15+1 NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.?(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TGGTTTCTTACCCGGAGGGAT 0.368000 13 91 1.5842e-08 2.04826e-08 0.105934 1 0 KLKB1 3818 broad.mit.edu 37 4 187179225 187179225 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:187179225G>T ENST00000264690.6 + 15 1963 c.1776G>T c.(1774-1776)ttG>ttT p.L592F KLKB1_ENST00000513864.1_Missense_Mutation_p.G546C NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 592 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity p.L592F(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TGTGGCGTTTGGTGGGCATCA 0.478000 26 25 3.65163e-15 5.6587e-15 0.030593 1 0 RELN 5649 broad.mit.edu 37 7 103234902 103234902 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103234902G>T ENST00000428762.1 - 26 3736 c.3577C>A c.(3577-3579)Cct>Act p.P1193T RELN_ENST00000343529.5_Missense_Mutation_p.P1193T|RELN_ENST00000424685.2_Missense_Mutation_p.P1193T NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1193 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.P1193N(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGGTGCAAGGGGTCTTGGCA 0.478000 33 117 2.20474e-14 3.3279e-14 0.064281 1 0 CD1E 913 broad.mit.edu 37 1 158325743 158325743 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:158325743A>T ENST00000444681.2 + 3 748 c.455A>T c.(454-456)cAg>cTg p.Q152L CD1E_ENST00000368164.3_Missense_Mutation_p.Q62L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368166.3_Missense_Mutation_p.Q62L|CD1E_ENST00000452291.2_Missense_Mutation_p.Q62L|CD1E_ENST00000434258.1_Missense_Mutation_p.Q249L|CD1E_ENST00000368160.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368165.3_Missense_Mutation_p.Q161L|CD1E_ENST00000368156.1_Missense_Mutation_p.Q161L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368155.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 251 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.Q251L(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GAGCAGGAGCAGCGGGGCACT 0.647000 24 40 0 0 0.108266 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202352544 202352544 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:202352544A>T ENST00000439140.1 - 16 5298 c.5254T>A c.(5254-5256)Tta>Ata p.L1752I ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.L555I|ALS2CR11_ENST00000482942.1_5'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 555 p.L555I(1)|p.L1752I(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CTTTTTCCTAAAAGCCTTGAT 0.353000 49 138 0 0 0.048971 0 0 TTLL11 158135 broad.mit.edu 37 9 124801637 124801637 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:124801637C>A ENST00000321582.5 - 2 930 c.743G>T c.(742-744)gGc>gTc p.G248V TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.G248V NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 248 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity p.G248V(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 CAAGCGCCGGCCAAATGGGAA 0.438000 17 9 0.000566183 0.000619414 0.033300 1 0 OSR2 116039 broad.mit.edu 37 8 99961564 99961564 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:99961564G>C ENST00000297565.4 + 2 880 c.384G>C c.(382-384)gaG>gaC p.E128D OSR2_ENST00000523368.1_Missense_Mutation_p.E128D|OSR2_ENST00000435298.2_Missense_Mutation_p.E128D|OSR2_ENST00000522510.1_Missense_Mutation_p.E128D|OSR2_ENST00000457907.2_Missense_Mutation_p.E249D NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 128 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding p.E128E(1)|p.E128D(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CCACGCAAGAGGATCCGCCTA 0.617000 49 130 0 0 0.048971 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84373230 84373230 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:84373230G>T ENST00000286744.5 + 3 383 c.159G>T c.(157-159)gaG>gaT p.E53D ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E53D NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 53 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.E53D(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CAACAGGGGAGCAGTTCCTCA 0.458000 84 70 1.19347e-43 2.35747e-43 0.048971 1 0 WNT10A 80326 broad.mit.edu 37 2 219754782 219754782 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:219754782G>T ENST00000258411.3 + 3 1086 c.453G>T c.(451-453)ctG>ctT p.L151L WNT10A_ENST00000483911.1_3'UTR NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 151 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.L151L(1) breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTGTGCCCTGGGCAAACTGA 0.612000 8 43 0.00307968 0.00325247 0.038147 1 0 ARPP21 10777 broad.mit.edu 37 3 35763114 35763114 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:35763114C>T ENST00000187397.4 + 14 1469 c.1013C>T c.(1012-1014)tCa>tTa p.S338L ARPP21_ENST00000458225.1_Missense_Mutation_p.S304L|ARPP21_ENST00000337271.5_Missense_Mutation_p.S284L|ARPP21_ENST00000444190.1_Missense_Mutation_p.S284L|ARPP21_ENST00000417925.1_Missense_Mutation_p.S304L NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 338 Ser-rich. cytoplasm nucleic acid binding p.S338L(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AGAGATGGCTCAGGGAGAACA 0.532000 5 17 0 0 0.014758 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763012 140763012 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140763012G>A ENST00000518325.1 + 1 546 c.546G>A c.(544-546)gtG>gtA p.V182V PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018920.2 NP_061743.1 p.V182V(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGGCTGTGCAAAGTGGAG 0.602000 7 19 0 0 0.029380 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33535096 33535096 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:33535096C>A ENST00000504830.1 - 23 4783 c.4446_splice c.e23-1 p.C1483_splice ADAMTS12_ENST00000352040.3_Splice_Site_p.C1398_splice NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1483 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1483F(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGAAGTGGAACACTGAAAGAG 0.488000 HNSCC(64;0.19) 8 29 2.17888e-05 2.48128e-05 0.058154 1 0 PEAR1 375033 broad.mit.edu 37 1 156883536 156883536 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:156883536C>A ENST00000338302.3 + 22 2922 c.2697C>A c.(2695-2697)ggC>ggA p.G899G PEAR1_ENST00000292357.7_Silent_p.G899G Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 899 Pro-rich. integral to membrane p.G899G(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATGGCCCAGGCCCATTCTACA 0.597000 24 13 6.21321e-17 9.99109e-17 0.076483 1 0 TFR2 7036 broad.mit.edu 37 7 100225567 100225567 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:100225567G>T ENST00000462107.1 - 14 1855 c.1568C>A c.(1567-1569)cCc>cAc p.P523H TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.P523H|TFR2_ENST00000544242.1_Missense_Mutation_p.P64H Q9UP52 TFR2_HUMAN transferrin receptor 2 523 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity p.P523H(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGTCAGAAGGGGGCTGGTCTT 0.607000 36 33 2.40579e-17 3.89799e-17 0.086207 1 0 OR1J4 26219 broad.mit.edu 37 9 125282291 125282291 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:125282291G>T ENST00000340750.1 + 1 872 c.872G>T c.(871-873)aGc>aTc p.S291I NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S291I(1) large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TTCATTTATAGCCTAAGGAAC 0.448000 7 26 0.00448238 0.00471055 0.047766 1 0 PRM2 5620 broad.mit.edu 37 16 11369761 11369761 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:11369761T>A ENST00000435245.2 - 2 458 c.349A>T c.(349-351)Act>Tct p.T117S RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.H102L P04554 PRM2_HUMAN protamine 2 0 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.H102L(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 GGAAGCTTAGTGCCTTCTGCA 0.537000 3 12 0 0 0.004672 0 0 BRWD3 254065 broad.mit.edu 37 X 79936987 79936987 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:79936987C>A ENST00000373275.4 - 40 4723 c.4507G>T c.(4507-4509)Gct>Tct p.A1503S BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1503 p.A1503S(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGCCCTTCAGCAGCATCTGAA 0.368000 40 9 1.67305e-13 2.43352e-13 0.086207 1 0 ROBO1 6091 broad.mit.edu 37 3 78766425 78766425 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:78766425C>A ENST00000436010.2 - 5 1797 c.800_splice c.e5+1 p.R267_splice ROBO1_ENST00000464233.1_Splice_Site_p.R306_splice|ROBO1_ENST00000467549.1_Splice_Site_p.R267_splice|ROBO1_ENST00000495273.1_Splice_Site_p.R267_splice Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 306 Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding p.R306I(2)|p.R267I(1)|p.R283I(1) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGATGTGTACCTGGATTTGGG 0.448000 56 104 2.3441e-25 4.262e-25 0.048971 1 0 ARHGEF3 50650 broad.mit.edu 37 3 56779265 56779265 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:56779265C>T ENST00000413728.2 - 7 1399 c.856G>A c.(856-858)Gat>Aat p.D286N ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D286N|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D312N|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D251N|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D280N|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D280N NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 280 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.D280N(2)|p.D312N(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TCTGGATTATCATTTGGTGTG 0.448000 41 51 0 0 0.111260 0 0 HFM1 164045 broad.mit.edu 37 1 91841140 91841141 + Frame_Shift_Del DEL TG TG - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:91841140_91841141delTG ENST00000370425.3 - 12 1637_1638 c.1539_1540delCA c.(1537-1542)ctacfs p.LN513fs HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Frame_Shift_Del_p.LN192fs NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 513 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATTTTGTAGTTGAGGGTTAAAT 0.356 22 65 --- --- --- --- GFPT1 2673 broad.mit.edu 37 2 69577211 69577211 + Splice_Site DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:69577211delT ENST00000357308.4 - 10 1022 c.845_splice c.e10+1 p.S282_splice GFPT1_ENST00000361060.4_Splice_Site_p.S264_splice NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 282 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GAAGCTCACCTTGCATCAGAA 0.428 11 9 --- --- --- --- DGUOK 1716 broad.mit.edu 37 2 74166144 74166145 + Frame_Shift_Ins INS - - A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:74166144_74166145insA ENST00000264093.4 + 2 335_336 c.250_251insA c.(250-252)aaafs p.K84fs DGUOK_ENST00000348222.1_Frame_Shift_Ins_p.K84fs|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000462685.1_Intron NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 84 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 TGCTGGCACCCAAAAAGTAAGT 0.416 15 46 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89100646 89100646 + RNA DEL A A - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:89100646delA ENST00000393525.3 + 0 1120 CAAAGCTGACAATCAAGAAAA 0.378 54 112 --- --- --- --- IGKV2D-29 28882 broad.mit.edu 37 2 89986468 89986468 + RNA DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:89986468delC ENST00000491977.1 + 0 79 CCCACTGATTCCCGTGTTTAT 0.498 11 8 --- --- --- --- GPR45 11250 broad.mit.edu 37 2 105858804 105858804 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:105858804delG ENST00000258456.1 + 1 605 c.489delG c.(487-489)gcfs p.A163fs NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 163 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TCTGCATCGCGGGGCCCTCGC 0.697 21 11 --- --- --- --- MZT2A 653784 broad.mit.edu 37 2 132241761 132241761 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:132241761delC ENST00000309451.6 - 3 395 c.350delG c.(349-351)gafs p.G117fs MZT2A_ENST00000410036.2_5'UTR NM_001085365.1 NP_001078834.1 Q6P582 MZT2A_HUMAN mitotic spindle organizing protein 2A 117 centrosome|gamma-tubulin ring complex|spindle breast(1)|lung(1) 2 GGCCAATACTCCCCCGAGGGC 0.632 13 84 --- --- --- --- LOC150776 150776 broad.mit.edu 37 2 132276832 132276832 + RNA DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:132276832delG ENST00000438378.2 + 0 2152 NR_026922.1 AGAAGGCCCTGGAGTACCTGC 0.602 17 26 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166946540 166946555 + RNA DEL TTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT - rs57637865 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:166946540_166946555delTTTTTTTTTTTTTTTT ENST00000447809.2 + 0 148 AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA ccttctttcctttttttttttttttttttttttttt 0.394 4 3 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179497479 179497480 + Frame_Shift_Del DEL TT TT - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:179497479_179497480delTT ENST00000589042.1 - 235 43477_43478 c.43253_43254delAA c.(43252-43254)afs p.K14418fs TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K5545fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K12777fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K5478fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K5353fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K11850fs NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12777 Fibronectin type-III 4. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCGAAGACTTTAACATCACT 0.426 32 91 --- --- --- --- AGAP1 116987 broad.mit.edu 37 2 236649676 236649677 + Frame_Shift_Ins INS - - C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:236649676_236649677insC ENST00000409538.1 + 4 1671_1672 c.1175_1176insC c.(1174-1176)gccfs p.A392fs AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.A127fs|AGAP1_ENST00000304032.7_Frame_Shift_Ins_p.A127fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.A127fs Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 127 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.G127A(1)|p.G127G(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GATGAAGGGGGCCCCCCGGAGG 0.490 16 27 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810380 36810381 + RNA INS - - T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:36810380_36810381insT ENST00000424886.1 - 0 405_406 TGAGTGAGGCCttttttttttt 0.540 3 5 --- --- --- --- SCN5A 6331 broad.mit.edu 37 3 38592373 38592373 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:38592373delG ENST00000413689.1 - 28 5683 c.5490delC c.(5488-5490)ccfs p.P1830fs SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1797fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.P1830fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1829fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1812fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1829fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1812fs NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1830 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTATCTGGTTGGGCTTGGCGA 0.537 35 54 --- --- --- --- IGF2BP2 10644 broad.mit.edu 37 3 185390353 185390353 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:185390353delG ENST00000382199.2 - 10 1271 c.1176delC c.(1174-1176)ccfs p.P392fs IGF2BP2_ENST00000457616.2_Frame_Shift_Del_p.P398fs|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000421047.2_Frame_Shift_Del_p.P335fs NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 392 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) AGGGGGCAGCGGGGGGAGCTC 0.597 5 8 --- --- --- --- RP11-689K5.3 0 broad.mit.edu 37 4 82931909 82931909 + RNA DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:82931909delC ENST00000510780.1 - 0 244 GAACTGGGCTCCCACTTTGGG 0.393 8 13 --- --- --- --- PGK2 5232 broad.mit.edu 37 6 49754088 49754088 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:49754088delG ENST00000304801.3 - 1 965 c.813delC c.(811-813)gcfs p.A271fs NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 271 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTGTGCTTTGGCCATGATAT 0.428 25 114 --- --- --- --- CALD1 800 broad.mit.edu 37 7 134644834 134644834 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:134644834delC ENST00000361388.2 + 12 1950 c.1484delC c.(1483-1485)tcfs p.S495fs CALD1_ENST00000361675.2_Frame_Shift_Del_p.S724fs|CALD1_ENST00000422748.1_Frame_Shift_Del_p.S494fs|CALD1_ENST00000361901.2_Frame_Shift_Del_p.S469fs|CALD1_ENST00000543443.1_Frame_Shift_Del_p.S474fs|CALD1_ENST00000393118.2_Frame_Shift_Del_p.S489fs|CALD1_ENST00000424922.1_Frame_Shift_Del_p.S463fs|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_Frame_Shift_Del_p.S488fs|CALD1_ENST00000417172.1_Frame_Shift_Del_p.S469fs NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 724 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GTGTTTTCATCCCCCACTGCA 0.453 40 32 --- --- --- --- ZC3HAV1 56829 broad.mit.edu 37 7 138764850 138764850 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:138764850delG ENST00000242351.5 - 4 1153 c.837delC c.(835-837)atfs p.I279fs ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.I279fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.I279fs NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 279 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding p.I279M(2) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CCCTGTGGCTGATCTGATCTG 0.582 40 123 --- --- --- --- AC068587.2 0 broad.mit.edu 37 8 12435588 12435588 + RNA DEL A A - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:12435588delA ENST00000458954.1 + 0 75 aagtaatggcaaaaacagcaa 0.403 14 178 --- --- --- --- NAT1 9 broad.mit.edu 37 8 18079724 18079725 + Frame_Shift_Ins INS - - G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:18079724_18079725insG ENST00000539092.1 + 5 859_860 c.168_169insG c.(166-171)ttatcafs p.S57fs NAT1_ENST00000541942.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.S119fs|NAT1_ENST00000517492.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.S57fs NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 57 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity p.D57Y(1)|p.D119Y(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) AGGCCATTTTTGATCAAGTTGT 0.465 44 64 --- --- --- --- RIMS2 9699 broad.mit.edu 37 8 104897708 104897708 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:104897708delG ENST00000507740.1 + 2 541 c.305delG c.(304-306)agfs p.R102fs RIMS2_ENST00000262231.10_Frame_Shift_Del_p.R102fs|RIMS2_ENST00000436393.2_Frame_Shift_Del_p.R72fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.R294fs|RIMS2_ENST00000522174.1_3'UTR NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 325 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTAAGTTATAGGGACTCCAAC 0.408 HNSCC(12;0.0054) 36 86 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124408447 124408447 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:124408447delC ENST00000287394.5 - 1 258 c.151delG c.(151-153)cgfs p.A51fs ATAD2_ENST00000521903.1_Intron NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GCTGTGGTCGCCGCGGGTTTC 0.746 15 6 --- --- --- --- CDC37L1 55664 broad.mit.edu 37 9 4706108 4706109 + Frame_Shift_Del DEL TA TA - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:4706108_4706109delTA ENST00000381854.3 + 7 1212_1213 c.1010_1011delTA c.(1009-1011)gfs p.V337fs NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 337 Interaction with Hsp70.|Required for interaction with STIP1. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) ATGGACACTGTATAATTTGGTT 0.376 67 17 --- --- --- --- SFTPA2 729238 broad.mit.edu 37 10 81319205 81319205 + Frame_Shift_Del DEL A A - rs72659394 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:81319205delA ENST00000372325.2 - 3 119 c.35delT c.(34-36)tgfs p.L12fs SFTPA2_ENST00000372327.5_Frame_Shift_Del_p.L12fs NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 12 L -> W. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGCTGCCATCAAGATGAGGGT 0.647 Pulmonary Fibrosis, Idiopathic 16 35 --- --- --- --- SFTPA1 653509 broad.mit.edu 37 10 81371615 81371615 + Frame_Shift_Del DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:81371615delT ENST00000398636.3 + 3 172 c.34delT c.(34-36)tgfs p.L12fs SFTPA1_ENST00000372308.3_Frame_Shift_Del_p.L12fs|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000419470.2_Frame_Shift_Del_p.L27fs|SFTPA1_ENST00000428376.2_Frame_Shift_Del_p.L12fs NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 12 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CAACCTCATCTTGATGGCAGC 0.632 23 212 --- --- --- --- BSX 390259 broad.mit.edu 37 11 122850161 122850161 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:122850161delC ENST00000343035.2 - 2 315 c.267delG c.(265-267)atfs p.M89fs NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 89 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CTGGGACTGGCATCCCTGCAG 0.682 36 18 --- --- --- --- HOXC4 3221 broad.mit.edu 37 12 54448073 54448073 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:54448073delG ENST00000430889.2 + 1 413 c.367delG c.(367-369)acfs p.D123fs HOXC4_ENST00000303406.4_Frame_Shift_Del_p.D123fs NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 123 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GCCAGCCCCCGACCATCCCTC 0.642 13 3 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36385037 36385037 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:36385037delG ENST00000255448.4 - 12 1834 c.1623delC c.(1621-1623)gafs p.D541fs DCLK1_ENST00000379893.1_Frame_Shift_Del_p.D234fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.D541fs NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 541 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ACAGGGGGCCGTCTACAATGG 0.463 42 107 --- --- --- --- LCP1 3936 broad.mit.edu 37 13 46726995 46726995 + Frame_Shift_Del DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:46726995delT ENST00000398576.2 - 10 1047 c.659delA c.(658-660)agfs p.K220fs LCP1_ENST00000323076.2_Frame_Shift_Del_p.K220fs P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 220 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CAGATAAGGCTTCCCCTCCTT 0.502 T BCL6 NHL 9 32 --- --- --- --- AKAP6 9472 broad.mit.edu 37 14 33015489 33015489 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:33015489delC ENST00000280979.4 + 4 1800 c.1630delC c.(1630-1632)cafs p.P544fs AKAP6_ENST00000557354.1_Frame_Shift_Del_p.P544fs|AKAP6_ENST00000557272.1_Frame_Shift_Del_p.P544fs NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 544 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CATAGAGGGGCCACAAACAAA 0.453 87 15 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 4 3 --- --- --- --- CHEK2P2 646096 broad.mit.edu 37 15 20490524 20490524 + RNA DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:20490524delT ENST00000555186.1 + 0 504 NR_038836.1 TGTCAAGAAGTTGTTGGTAGT 0.428 40 345 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25476250 25476251 + RNA INS - - T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:25476250_25476251insT ENST00000453082.2 + 0 1523 NR_003343.1 GCTTCTGTTCCTTGGGGGCAGG 0.609 5 2 --- --- --- --- ARRDC4 91947 broad.mit.edu 37 15 98509171 98509172 + Frame_Shift_Del DEL TG TG - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:98509171_98509172delTG ENST00000268042.6 + 3 585_586 c.421_422delTG c.(421-423)tfs p.C141fs ARRDC4_ENST00000538249.1_Frame_Shift_Del_p.C54fs NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 141 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CATTCAGTACTGTGTGCGGGCA 0.431 25 58 --- --- --- --- OTOA 146183 broad.mit.edu 37 16 21698946 21698947 + Frame_Shift_Del DEL GC GC - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:21698946_21698947delGC ENST00000388958.3 + 7 613_614 c.612_613delGC c.(610-615)ctgcfs p.LR204fs OTOA_ENST00000286149.4_Frame_Shift_Del_p.LR204fs|OTOA_ENST00000388956.4_Frame_Shift_Del_p.LR125fs NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 204 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix p.R205G(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CTCGGGACCTGCGCGAGGATGC 0.540 11 24 --- --- --- --- UPF3AP2 147150 broad.mit.edu 37 17 20279654 20279655 + RNA INS - - T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:20279654_20279655insT ENST00000578315.1 - 0 51_52 atctgtctctcttttttttttt 0.381 2 4 --- --- --- --- ZBTB14 7541 broad.mit.edu 37 18 5290892 5290892 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:5290892delC ENST00000357006.4 - 4 1653 c.1315delG c.(1315-1317)cafs p.A439fs ZBTB14_ENST00000400143.3_Frame_Shift_Del_p.A439fs NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 TGCTGTTCTGCTTCCGCAGCC 0.547 18 82 --- --- --- --- ZNF280B 140883 broad.mit.edu 37 22 22843330 22843330 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:22843330delG ENST00000360412.2 - 4 1169 c.394delC c.(394-396)aafs p.Q132fs ZNF280B_ENST00000406426.1_Frame_Shift_Del_p.Q132fs NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GGCACAACTTGTGGTGAACTA 0.388 39 131 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47038768 47038768 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:47038768delC ENST00000377604.3 + 9 1517 c.775delC c.(775-777)cafs p.P259fs RBM10_ENST00000345781.6_Frame_Shift_Del_p.P182fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Del_p.P182fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 259 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GCAGACACTGCCACTGGGTGG 0.677 7 3 --- --- --- ---