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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ANAPC2 29882 broad.mit.edu 37 9 140079372 140079372 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:140079372G>A uc004clr.1 - 3 1114 c.1041C>T c.(1039-1041)atC>atT p.I347I ANAPC2_uc004clq.1_Silent_p.I206I NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA. 347 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CACCTCGGACGATGCTGAAGA 0.677000 43 21 0 0 0.004656 0 0 KCNA6 3742 broad.mit.edu 37 12 4919899 4919899 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:4919899C>T uc001qng.3 + 0 1558 c.692C>T c.(691-693)tCc>tTc p.S231F KCNA6_uc021qtr.1_Missense_Mutation_p.S231F NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 231 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GAAGACGATTCCTACACATTT 0.547000 HNSCC(72;0.22) 88 34 0 0 0.002836 0 0 SMARCA1 6594 broad.mit.edu 37 X 128602861 128602861 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:128602861G>A uc011muk.1 - 20 2700 c.2587C>T c.(2587-2589)Cga>Tga p.R863* SMARCA1_uc004eun.4_Nonsense_Mutation_p.R863*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.R851*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R851* NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 863 SANT 1. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTAAAATCTCGTTTAGTCCAG 0.338000 51 9 0 0 0.006214 0 0 SIK3 23387 broad.mit.edu 37 11 116729203 116729203 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:116729203G>A uc001ppy.3 - 19 2696 c.2660C>T c.(2659-2661)tCg>tTg p.S887L SIK3_uc001ppz.3_Missense_Mutation_p.S726L|SIK3_uc001pqa.3_Missense_Mutation_p.S827L|SIK3_uc001ppw.3_Missense_Mutation_p.S244L|SIK3_uc001ppx.3_Missense_Mutation_p.S265L|SIK3_uc001pqb.3_Missense_Mutation_p.S190L NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 887 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CTGTAGTGCCGACGTGGTATA 0.592000 420 216 0 0 0.003610 0 0 CCDC108 255101 broad.mit.edu 37 2 219894278 219894278 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:219894278G>A uc002vjl.1 - 10 1581 c.1497C>T c.(1495-1497)ttC>ttT p.F499F CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.F488F|CCDC108_uc010zkq.1_Silent_p.F434F NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 499 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCAAACTGGAAGTGGGCCG 0.597000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 16 0 0 0.006122 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054431 160054431 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:160054431C>T uc001fuy.1 + 1 853 c.611C>T c.(610-612)tCc>tTc p.S204F NM_004983 NP_004974 Q92806 IRK9_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA. 204 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGGAGGCCTCCATCCGCGCC 0.677000 8 12 0 0 0.000978 0 0 DENND4C 55667 broad.mit.edu 37 9 19346844 19346844 + Missense_Mutation SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:19346844C>G uc003znq.3 + 17 3302 c.3222C>G c.(3220-3222)ttC>ttG p.F1074L DENND4C_uc011lnc.2_Missense_Mutation_p.F404L|DENND4C_uc011lnd.2_Missense_Mutation_p.F362L|DENND4C_uc003znr.3_Missense_Mutation_p.F362L|DENND4C_uc003zns.3_Missense_Mutation_p.F256L|DENND4C_uc003znt.3_Missense_Mutation_p.F256L NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA. 1074 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CTGGGCGTTTCAAGCAGCAAA 0.463000 27 39 0 0 0.006230 0 0 PRLH 51052 broad.mit.edu 37 2 238475737 238475737 + Silent SNP G A A rs145946342 byFrequency TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:238475737G>A uc010znl.2 + 1 183 c.183G>A c.(181-183)ggG>ggA p.G61G NM_015893 NP_056977 P81277 PRRP_HUMAN Homo sapiens prolactin releasing hormone (PRLH), mRNA. 61 extracellular region endometrium(1)|large_intestine(1) 2 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) CAACCCTGGGGGACGTCCCCA 0.647000 43 24 0 0 0.003954 0 0 STS 412 broad.mit.edu 37 X 7268099 7268099 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:7268099C>T uc004cry.4 + 9 1794 c.1549C>T c.(1549-1551)Cca>Tca p.P517S NM_000351 NP_000342 P08842 STS_HUMAN Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA. 517 female pregnancy|steroid catabolic process Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CCCACTAACTCCAGCATCCGA 0.507000 Ichthyosis 55 25 0 0 0.002780 0 0 WFS1 7466 broad.mit.edu 37 4 6288872 6288872 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:6288872C>T uc003giy.3 + 2 451 c.285C>T c.(283-285)gcC>gcT p.A95A WFS1_uc003gix.3_Silent_p.A95A|WFS1_uc003giz.3_5'Flank NM_001145853 NP_005996 O76024 WFS1_HUMAN Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. 95 ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding p.R94R(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TGGAGAGGGCCAAGGCCGGGG 0.592000 142 64 0 0 0.003610 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Splice_Site SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:21971208C>T uc003zpk.3 - 2 457 c.151_splice c.e2-1 p.V51_splice MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Splice_Site|CDKN2A_uc010miu.3_Splice_Site_p.V51_splice|CDKN2A_uc003zpl.3_Splice_Site_p.G65_splice NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 51 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 22 37 0 0 0.004289 0 0 OR1E1 8387 broad.mit.edu 37 17 3301561 3301561 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:3301561G>A uc002fvj.1 - 0 144 c.144C>T c.(142-144)ctC>ctT p.L48L NM_003553 NP_003544 P30953 OR1E1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 CCAGTCGAATGAGGACAATGA 0.517000 43 31 0 0 0.006230 0 0 OR11H12 440153 broad.mit.edu 37 14 19378102 19378102 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:19378102G>A uc010tkp.2 + 0 509 c.509G>A c.(508-510)tGg>tAg p.W170* NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGATTTCTGTGGTTCCTGATC 0.488000 309 21 0 0 0.002096 0 0 GAA 2548 broad.mit.edu 37 17 78078786 78078786 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:78078786C>T uc002jxp.3 + 1 768 c.401C>T c.(400-402)cCc>cTc p.P134L GAA_uc002jxo.3_Missense_Mutation_p.P134L|GAA_uc002jxq.3_Missense_Mutation_p.P134L NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 134 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCCAGCTACCCCAGCTACAAG 0.632000 19 5 0 0 0.000602 0 0 MTIF2 4528 broad.mit.edu 37 2 55467227 55467227 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:55467227T>A uc002ryn.3 - 14 2527 c.1790A>T c.(1789-1791)aAa>aTa p.K597I MTIF2_uc010yox.2_Missense_Mutation_p.K266I|MTIF2_uc002ryo.3_Missense_Mutation_p.K597I NM_001005369 NP_002444 P46199 IF2M_HUMAN Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 597 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GTAAATTATTTTGTGAAGTTT 0.383000 19 8 0 0 0.003080 0 0 C5 727 broad.mit.edu 37 9 123742513 123742514 + Missense_Mutation DNP AT GC GC TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:123742513_123742514AT>GC uc004bkv.3 - 27 3535_3536 c.3505_3506AT>GC c.(3505-3507)att>GCt p.I1169A NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1169 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCAGCTTTAATTAGAGCTGTG 0.416000 43 24 0 0 0.004672 0 0 AREG 374 broad.mit.edu 37 4 75312296 75312296 + Missense_Mutation SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:75312296A>G uc021xpc.1 + 1 317 c.107A>G c.(106-108)aAg>aGg p.K36R NM_001657 NP_001648 P15514 AREG_HUMAN Homo sapiens amphiregulin (AREG), mRNA. 36 G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) TACTCTGGGAAGCGTGAACCA 0.478000 99 55 0 0 0.003610 0 0 OR2A25 392138 broad.mit.edu 37 7 143771642 143771642 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:143771642A>T uc011ktx.2 + 0 330 c.330A>T c.(328-330)gaA>gaT p.E110D NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CACATACAGAATGTCTCCTCC 0.512000 62 34 0 0 0.002836 0 0 TMEM194A 23306 broad.mit.edu 37 12 57472468 57472468 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:57472468C>T uc001smy.3 - 0 107 c.61G>A c.(61-63)Gga>Aga p.G21R TMEM194A_uc001smx.3_Missense_Mutation_p.G21R|TMEM194A_uc010sra.2_5'UTR NM_001130963 NP_001124435 O14524 T194A_HUMAN Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA. 21 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCCCCGACTCCCGAGCCCCAG 0.682000 54 81 0 0 0.003610 0 0 WDR93 56964 broad.mit.edu 37 15 90270552 90270552 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:90270552C>T uc002boj.3 + 8 1146 c.1045C>T c.(1045-1047)Cca>Tca p.P349S WDR93_uc010bnr.3_Missense_Mutation_p.P349S|WDR93_uc010upz.2_Missense_Mutation_p.P66S NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 349 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) GGAGGAAGAGCCACTCAGGTG 0.532000 30 5 0 0 0.000602 0 0 DUSP27 92235 broad.mit.edu 37 1 167096059 167096059 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:167096059G>A uc001geb.1 + 4 1707 c.1691G>A c.(1690-1692)gGa>gAa p.G564E NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 564 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTGGGAGCGGGAGACAGCAGC 0.547000 33 64 0 0 0.003610 0 0 KIF14 9928 broad.mit.edu 37 1 200559251 200559251 + Splice_Site SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:200559251A>G uc010ppk.1 - 17 3400 c.2961_splice c.e17+1 p.L987_splice KIF14_uc010ppj.1_Splice_Site_p.L496_splice NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 987 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TCTGCCTTTTACCAGTTCTGC 0.383000 121 27 0 0 0.004656 0 0 FEM1A 55527 broad.mit.edu 37 19 4793180 4793180 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:4793180C>T uc002mbf.3 + 0 1453 c.1314C>T c.(1312-1314)ttC>ttT p.F438F AK126532_uc002mbg.1_Non-coding_Transcript NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA. 438 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TCCTCTCCTTCGCGGAACTCT 0.612000 129 64 0 0 0.003610 0 0 SPTBN2 6712 broad.mit.edu 37 11 66475050 66475050 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:66475050G>A uc001ojd.3 - 11 1662 c.1590C>T c.(1588-1590)aaC>aaT p.N530N NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 530 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCAGCTCCAGGTTGAGGAGGA 0.622000 5 17 0 0 0.004007 0 0 NLRP5 126206 broad.mit.edu 37 19 56539572 56539572 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:56539572C>T uc002qmj.3 + 6 1973 c.1973C>T c.(1972-1974)cCc>cTc p.P658L NLRP5_uc002qmi.3_Missense_Mutation_p.P639L NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 658 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTCCCGTTCCCCTGGGGGTG 0.587000 47 51 0 0 0.003610 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713678 138713678 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:138713678G>A uc003vum.1 - 2 542 c.530C>T c.(529-531)gCc>gTc p.A177V NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA. 177 p.A177V(2) NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 GCCATACAGGGCTTCCCCTTT 0.433000 26 11 0 0 0.008291 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64673245 64673245 + Missense_Mutation SNP C A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:64673245C>A uc003dmg.3 - 0 121 c.89G>T c.(88-90)cGc>cTc p.R30L ADAMTS9_uc011bfo.2_Missense_Mutation_p.R30L|ADAMTS9_uc003dmh.1_5'Flank|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R30L|ADAMTS9-AS2_uc003dml.3_Intron NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 30 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CCTGTCCTTGCGCACGGCCGC 0.726000 30 38 3.76604e-16 6.27868e-16 0.002522 1 0 HSD17B11 51170 broad.mit.edu 37 4 88258508 88258508 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:88258508C>T uc003hqp.2 - 6 1056 c.823G>A c.(823-825)Gag>Aag p.E275K NM_016245 NP_057329 Q8NBQ5 DHB11_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA. 275 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) AGGAAACGCTCAGGAAGGATC 0.294000 27 14 0 0 0.003163 0 0 OR4A5 81318 broad.mit.edu 37 11 51411726 51411726 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:51411726T>A uc001nhi.2 - 0 723 c.670A>T c.(670-672)Act>Tct p.T224S NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TGACTGTAAGTTTTAAGGGAG 0.418000 12 38 0 0 0.002522 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707705 75707705 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:75707705C>T uc010oqz.1 - 7 696 c.630G>A c.(628-630)gcG>gcA p.A210A SLC44A5_uc001dgt.2_Silent_p.A171A|SLC44A5_uc001dgs.2_Silent_p.A129A|SLC44A5_uc001dgr.2_Silent_p.A129A|SLC44A5_uc001dgu.3_Silent_p.A171A|SLC44A5_uc010ora.2_Silent_p.A165A|SLC44A5_uc010orb.2_Silent_p.A41A NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 171 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGGGAAAAATCGCTGTTGGAC 0.353000 46 16 0 0 0.006122 0 0 SLC26A4 5172 broad.mit.edu 37 7 107329560 107329560 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:107329560C>T uc003vep.3 + 8 1288 c.1064C>T c.(1063-1065)tCc>tTc p.S355F SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 355 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GCATCATTTTCCATCGCTGTG 0.448000 Pendred syndrome 98 32 0 0 0.002445 0 0 WDR24 84219 broad.mit.edu 37 16 737679 737679 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:737679G>A uc002ciz.1 - 1 1302 c.542C>T c.(541-543)tCc>tTc p.S181F NM_032259 NP_115635 Q96S15 WDR24_HUMAN Homo sapiens WD repeat domain 24 (WDR24), mRNA. 254 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) CTCAAAGGTGGAGGCGAAGGT 0.632000 23 23 0 0 0.002299 0 0 ZNF99 7652 broad.mit.edu 37 19 22940616 22940616 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:22940616G>A uc021urt.1 - 3 2250 c.2095C>T c.(2095-2097)Cat>Tat p.H699Y NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCCAGTATGAATTATCTTA 0.363000 31 11 0 0 0.008291 0 0 DOCK6 57572 broad.mit.edu 37 19 11352739 11352739 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:11352739G>A uc002mqs.4 - 13 1666 c.1625C>T c.(1624-1626)gCc>gTc p.A542V NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 542 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGTATGGGGGGCATAGACTTC 0.612000 10 15 0 0 0.008871 0 0 TRPM5 29850 broad.mit.edu 37 11 2443397 2443397 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:2443397C>T uc010qxl.2 - 1 281 c.272G>A c.(271-273)gGg>gAg p.G91E TRPM5_uc001lwm.4_Missense_Mutation_p.G91E|TRPM5_uc009ydn.3_Missense_Mutation_p.G91E NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 91 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CTTCACCAGCCCCTTGCGCAG 0.701000 105 10 0 0 0.006214 0 0 OSBPL6 114880 broad.mit.edu 37 2 179170937 179170937 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:179170937C>T uc002uly.3 + 2 570 c.26C>T c.(25-27)tCc>tTc p.S9F OSBPL6_uc002ulw.3_Missense_Mutation_p.S9F|OSBPL6_uc002ulx.3_Missense_Mutation_p.S9F|OSBPL6_uc010zfe.2_Missense_Mutation_p.S9F|OSBPL6_uc002ulz.3_Missense_Mutation_p.S9F NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 9 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AAGGGCATTTCCCCTGCTCAT 0.453000 92 31 0 0 0.003755 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 75 238 1.38977e-115 2.32423e-115 0.003610 1 0 MAST1 22983 broad.mit.edu 37 19 12975980 12975980 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:12975980C>T uc002mvm.3 + 13 1754 c.1626C>T c.(1624-1626)ttC>ttT p.F542F NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 542 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CCCGAGAGTTCCTGGACAAAC 0.607000 43 17 0 0 0.001882 0 0 NRXN1 9378 broad.mit.edu 37 2 51254796 51254796 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:51254796C>T uc021vhh.1 - 0 1537 c.616G>A c.(616-618)Gat>Aat p.D206N NRXN1_uc021vhg.1_Missense_Mutation_p.D206N|NRXN1_uc021vhi.1_Missense_Mutation_p.D206N|NRXN1_uc021vhj.1_Missense_Mutation_p.D206N|NRXN1_uc021vhk.1_Missense_Mutation_p.D206N NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 206 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCGGCTCATCGTCCAGCTTC 0.697000 5 9 0 0 0.008291 0 0 CYLC1 1538 broad.mit.edu 37 X 83129238 83129238 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:83129238G>A uc004eei.1 + 3 1543 c.1522G>A c.(1522-1524)Gat>Aat p.D508N CYLC1_uc004eeh.1_Missense_Mutation_p.D507N NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 508 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TTCAAAGAAAGATATCAAGAA 0.353000 17 4 0 0 0.000602 0 0 EEF2 1938 broad.mit.edu 37 19 3982420 3982420 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:3982420G>A uc002lze.3 - 4 698 c.615C>T c.(613-615)atC>atT p.I205I NM_001961 NP_001952 P13639 EF2_HUMAN Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA. 205 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GGACAGGATCGATCTGGAAGT 0.632000 48 41 0 0 0.002222 0 0 ANKRD49 54851 broad.mit.edu 37 11 94231575 94231575 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:94231575C>T uc001pew.3 + 2 736 c.597C>T c.(595-597)taC>taT p.Y199Y ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA. 199 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGAACCGTTACGTCAAACCAG 0.453000 16 43 0 0 0.008740 0 0 UBR2 23304 broad.mit.edu 37 6 42625842 42625842 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:42625842C>T uc011dur.2 + 26 3251 c.2953C>T c.(2953-2955)Cac>Tac p.H985Y UBR2_uc011dus.2_Missense_Mutation_p.H630Y|UBR2_uc003osh.3_Non-coding_Transcript NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA. 985 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CCTAGAAGTCCACAAAGACAT 0.368000 144 106 0 0 0.003610 0 0 PLVAP 83483 broad.mit.edu 37 19 17476972 17476972 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:17476972A>G uc002ngk.1 - 1 442 c.402T>C c.(400-402)gcT>gcC p.A134A NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 134 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGATGATGGCAGCCATGTACC 0.552000 143 52 0 0 0.003610 0 0 PRPS2 5634 broad.mit.edu 37 X 12838868 12838868 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:12838868C>T uc004cva.3 + 5 962 c.819C>T c.(817-819)gtC>gtT p.V273V PRPS2_uc004cvb.3_Silent_p.V270V|PRPS2_uc010nec.3_Silent_p.V148V NM_001039091 NP_001034180 P11908 PRPS2_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA. 270 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 AGGCTGTTGTCGTCACAAACA 0.473000 38 38 0 0 0.004878 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698408 17698408 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:17698408T>A uc002rcl.1 - 0 1299 c.1275A>T c.(1273-1275)aaA>aaT p.K425N RAD51AP2_uc010exn.1_Missense_Mutation_p.K416N NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 425 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTCTTCAGTTTTTTTCATAT 0.294000 39 18 0 0 0.004990 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650407 232650407 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:232650407G>A uc001hvg.3 - 0 837 c.679C>T c.(679-681)Cct>Tct p.P227S NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 227 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.V226V(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) AACCCAAAAGGGACCATTGCT 0.468000 155 32 0 0 0.001786 0 0 MFI2 4241 broad.mit.edu 37 3 196737653 196737653 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:196737653C>T uc003fxk.4 - 9 1360 c.1246G>A c.(1246-1248)Gac>Aac p.D416N NM_005929 NP_005920 P08582 TRFM_HUMAN Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA. 416 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GTCACAGCGTCGACCTGCTCA 0.662000 42 18 0 0 0.008871 0 0 SNRPN 6638 broad.mit.edu 37 15 25442572 25442572 + RNA SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:25442572G>A uc001yzf.1 + 5 c.567G>A SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CACTGGCCCCGGGAAAATGTC 0.597000 Prader-Willi syndrome 17 5 0 0 0.000602 0 0 MIR509-1 574514 broad.mit.edu 37 X 146340352 146340352 + RNA SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:146340352G>A uc022cfy.1 - 1 c.92C>T Homo sapiens microRNA HSA-MIR-RG-55, complete sequence. CTGCAGTAGGGTACCACACAC 0.438000 93 26 0 0 0.004878 0 0 MERTK 10461 broad.mit.edu 37 2 112740542 112740542 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:112740542C>T uc002thk.1 + 7 1390 c.1268C>T c.(1267-1269)tCc>tTc p.S423F MERTK_uc002thl.1_Missense_Mutation_p.S247F NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 423 Fibronectin type-III 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TACCGGATATCCCACGTGTGG 0.463000 56 17 0 0 0.007413 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107511 107511 + RNA SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrGL000211.1:107511A>T uc003boa.3 + 4 c.1051A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. AATGCAAATTATTTTGAAATA 0.279000 18 3 0 0 0.004672 0 0 FCRL3 115352 broad.mit.edu 37 1 157665255 157665255 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:157665255C>T uc001fqz.4 - 7 1567 c.1275G>A c.(1273-1275)ggG>ggA p.G425G FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.G151G|FCRL3_uc001frb.3_Silent_p.G425G|FCRL3_uc001frc.1_Silent_p.G425G NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 425 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CTGAGCTGTTCCCCAGGGTGA 0.577000 153 33 0 0 0.003755 0 0 ICA1L 130026 broad.mit.edu 37 2 203693724 203693724 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:203693724G>A uc002uzh.1 - 2 173 c.9C>T c.(7-9)tcC>tcT p.S3S ICA1L_uc002uzi.1_Silent_p.S3S|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Silent_p.S3S|ICA1L_uc002uzk.1_Silent_p.S3S NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA. 3 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTTGCCCAAAGGAATCCATGG 0.383000 308 121 0 0 0.003610 0 0 SAGE1 55511 broad.mit.edu 37 X 134992215 134992215 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:134992215G>A uc004ezh.3 + 14 1917 c.1750G>A c.(1750-1752)Gaa>Aaa p.E584K SAGE1_uc010nry.1_Missense_Mutation_p.E553K|SAGE1_uc011mvv.2_Missense_Mutation_p.E208K NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 584 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CAATGTCCATGAAGAGAAGAT 0.408000 78 24 0 0 0.003954 0 0 FBN1 2200 broad.mit.edu 37 15 48782256 48782256 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:48782256G>A uc001zwx.2 - 24 3269 c.2874C>T c.(2872-2874)tgC>tgT p.C958C NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 958 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACCTCAGGAAGCAGGTTTCCA 0.587000 23 19 0 0 0.007413 0 0 SLC22A16 85413 broad.mit.edu 37 6 110768188 110768188 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:110768188C>T uc003puf.3 - 2 606 c.539G>A c.(538-540)gGa>gAa p.G180E SLC22A16_uc003pue.3_Missense_Mutation_p.G161E NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 180 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CACCCGGCGTCCTAGCCTGAA 0.433000 45 28 0 0 0.008361 0 0 PAPL 390928 broad.mit.edu 37 19 39597640 39597640 + Silent SNP C T T rs142073546 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:39597640C>T uc002oki.3 + 11 1441 c.1167C>T c.(1165-1167)gcC>gcT p.A389A PAPL_uc010egl.3_Intron NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA. 389 extracellular region acid phosphatase activity|metal ion binding CCTGGAGTGCCGTGCGTGTGA 0.652000 35 6 0 0 0.001984 0 0 SETD1A 9739 broad.mit.edu 37 16 30977153 30977153 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:30977153C>T uc002ead.1 + 7 2637 c.1951C>T c.(1951-1953)Cca>Tca p.P651S NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 651 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCCACCTCCTCCACCACCCCC 0.627000 52 27 0 0 0.005443 0 0 MTAP 4507 broad.mit.edu 37 9 21816739 21816739 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:21816739G>A uc003zph.3 + 2 260 c.147G>A c.(145-147)aaG>aaA p.K49K MTAP_uc003zpi.1_Silent_p.K49K|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Silent_p.K66K|MTAP_uc011lnl.2_5'Flank NM_002451 NP_002442 Q13126 MTAP_HUMAN Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA. 49 nucleoside metabolic process cytoplasm S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity p.0(1)|p.G48W(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) TTTTGGGGAAGATAAAAAATG 0.303000 28 90 0 0 0.003610 0 0 DSC3 1825 broad.mit.edu 37 18 28610971 28610971 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:28610971C>T uc002kwj.4 - 2 477 c.322G>A c.(322-324)Gag>Aag p.E108K DSC3_uc002kwi.4_Missense_Mutation_p.E108K NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 108 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACAGTAACCTCTTTCTGTGTC 0.343000 32 23 0 0 0.008361 0 0 NANOS3 342977 broad.mit.edu 37 19 13988138 13988138 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:13988138C>T uc002mxj.4 + 0 76 c.76C>T c.(76-78)Cct>Tct p.P26S NM_001098622 NP_001092092 P60323 NANO3_HUMAN Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA. 26 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAAAGAGGGTCCTGAAACCAG 0.642000 61 86 0 0 0.003610 0 0 DGKD 8527 broad.mit.edu 37 2 234367008 234367008 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:234367008C>T uc002vui.1 + 21 2671 c.2659C>T c.(2659-2661)Cga>Tga p.R887* DGKD_uc002vuj.1_Nonsense_Mutation_p.R843*|DGKD_uc010fyi.1_Non-coding_Transcript NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 887 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GGCCGTCTCTCGAGTCATCAG 0.587000 35 14 0 0 0.002450 0 0 OVOS2 0 broad.mit.edu 37 12 31353368 31353368 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:31353368G>A uc010sjy.1 - 2 362 c.362C>T c.(361-363)cCt>cTt p.P121L RecName: Full=Ovostatin homolog 2; Flags: Precursor; all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTTCTGTCCAGGCTTGTAGGT 0.413000 26 9 0 0 0.008291 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660587 77660588 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:77660587_77660588GG>AA uc011cbx.2 + 4 2214_2215 c.1261_1262GG>AA c.(1261-1263)ggc>AAc p.G421N SHROOM3_uc011cbz.1_Missense_Mutation_p.G245N|SHROOM3_uc003hkf.1_Missense_Mutation_p.G296N|SHROOM3_uc003hkg.3_Missense_Mutation_p.G199N NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 421 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AAACTCTTTAGGCTCCCTGAAG 0.559000 29 12 0 0 0.004672 0 0 HIPK4 147746 broad.mit.edu 37 19 40886829 40886829 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:40886829C>T uc002onp.3 - 2 1354 c.1069G>A c.(1069-1071)Gag>Aag p.E357K NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA. 357 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TGGGTGGTCTCGTGGGCACTG 0.662000 74 32 0 0 0.002836 0 0 CDH6 1004 broad.mit.edu 37 5 31323206 31323206 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:31323206G>A uc003jhe.2 + 11 2524 c.2164G>A c.(2164-2166)Gaa>Aaa p.E722K NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 722 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.E722K(4) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAGGTTAAAGGAAAATGACAC 0.562000 36 10 0 0 0.006214 0 0 CDH22 64405 broad.mit.edu 37 20 44839064 44839064 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:44839064C>T uc002xrm.2 - 5 1567 c.1168G>A c.(1168-1170)Gag>Aag p.E390K CDH22_uc010ghk.1_Missense_Mutation_p.E390K|CDH22_uc002xrn.2_Missense_Mutation_p.E141K NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 390 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCGGGGGGCTCGTCCACGTCG 0.736000 6 14 0 0 0.003163 0 0 LILRB3 11025 broad.mit.edu 37 19 54803632 54803632 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:54803632C>T uc002qfd.3 - 2 284 c.192G>A c.(190-192)aaG>aaA p.K64K LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.K64K NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 64 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGCTGTTTTCTTTTCTCTAT 0.547000 53 58 0 0 0.003610 0 0 NFATC3 4775 broad.mit.edu 37 16 68217229 68217229 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:68217229G>A uc002evo.2 + 7 2374 c.2058G>A c.(2056-2058)aaG>aaA p.K686K NFATC3_uc010vkl.2_Silent_p.K207K|NFATC3_uc010vkm.2_Silent_p.K207K|NFATC3_uc010vkn.2_Silent_p.K207K|NFATC3_uc010vko.2_Silent_p.K207K|NFATC3_uc010vkp.2_Silent_p.K207K|NFATC3_uc010vkq.2_Silent_p.K207K|NFATC3_uc002evl.3_Silent_p.K207K|NFATC3_uc002evk.3_Silent_p.K686K|NFATC3_uc002evm.2_Silent_p.K686K|NFATC3_uc002evn.2_Silent_p.K686K|NFATC3_uc010vkr.2_Silent_p.K207K|NFATC3_uc010vks.2_Silent_p.K207K|NFATC3_uc010vkt.2_Silent_p.K207K|NFATC3_uc010vku.2_Silent_p.K207K|NFATC3_uc010vkv.2_Silent_p.K207K|NFATC3_uc010vkw.2_Silent_p.K207K|NFATC3_uc010vkx.2_Silent_p.K207K|NFATC3_uc010vky.2_Silent_p.K207K|NFATC3_uc010vkz.2_Silent_p.K207K|NFATC3_uc010vla.2_Silent_p.K207K|NFATC3_uc010vlb.2_Silent_p.K207K|NFATC3_uc010vlc.2_Silent_p.K207K NM_173165 NP_775188 Q12968 NFAC3_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA. 686 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding 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) GCAATGGCAAGAGGAAAAAAA 0.398000 73 43 0 0 0.002222 0 0 PKD2L1 9033 broad.mit.edu 37 10 102089771 102089771 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:102089771G>A uc001kqx.1 - 0 473 c.90C>T c.(88-90)tcC>tcT p.S30S PKD2L1_uc009xwm.1_5'UTR NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 30 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCCGTGTGGGGAAGGGGGAC 0.622000 47 27 0 0 0.006320 0 0 SPAG17 200162 broad.mit.edu 37 1 118523996 118523996 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:118523996C>T uc001ehk.2 - 42 5969 c.5901G>A c.(5899-5901)caG>caA p.Q1967Q SPAG17_uc021osr.1_Silent_p.Q477Q NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1967 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTGAGGATTTCTGTTCTGAAA 0.338000 98 14 0 0 0.004990 0 0 CTDP1 9150 broad.mit.edu 37 18 77474843 77474843 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:77474843C>T uc002lnh.2 + 7 1530 c.1383C>T c.(1381-1383)agC>agT p.S461S CTDP1_uc002lni.2_Silent_p.S461S|CTDP1_uc010drd.2_Silent_p.S461S|CTDP1_uc021ult.1_Silent_p.S342S NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 461 Ser-rich. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GCGAGAGCAGCAGTGAGTCCG 0.677000 7 10 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179422027 179422027 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:179422027C>T uc021vsy.1 - 277 80483 c.80258G>A c.(80257-80259)gGa>gAa p.G26753E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20448E|TTN_uc021vta.1_Missense_Mutation_p.G20381E|TTN_uc021vtb.1_Missense_Mutation_p.G20256E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27680 Ig-like 128. 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) GCTAGGTTTTCCAACTCCAGC 0.418000 29 26 0 0 0.003954 0 0 MYO5B 4645 broad.mit.edu 37 18 47506853 47506853 + Silent SNP C T T rs139934455 by1000genomes TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:47506853C>T uc002leb.2 - 8 1305 c.1017G>A c.(1015-1017)gcG>gcA p.A339A MYO5B_uc021ukb.1_Silent_p.A338A NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 339 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAGCCTGAATCGCCACACTTC 0.403000 28 10 0 0 0.000978 0 0 COL5A3 50509 broad.mit.edu 37 19 10107173 10107173 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:10107173G>A uc002mmq.1 - 12 1444 c.1358C>T c.(1357-1359)tCc>tTc p.S453F NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 453 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCTTTAAAGGAGCCGCCTGC 0.617000 31 8 0 0 0.003080 0 0 ADCY7 113 broad.mit.edu 37 16 50338390 50338390 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:50338390C>T uc002egd.1 + 9 1756 c.1488C>T c.(1486-1488)ccC>ccT p.P496P ADCY7_uc002egb.1_Silent_p.P496P|ADCY7_uc002egc.2_Silent_p.P496P NM_001114 NP_001105 P51828 ADCY7_HUMAN Homo sapiens adenylate cyclase 7 (ADCY7), mRNA. 496 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CGGCACGGCCCTTTGCACATC 0.677000 68 48 0 0 0.003610 0 0 CDH2 1000 broad.mit.edu 37 18 25573486 25573486 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:25573486G>A uc002kwg.2 - 7 1595 c.1136C>T c.(1135-1137)cCt>cTt p.P379L CDH2_uc010xbn.1_Missense_Mutation_p.P348L NM_001792 NP_001783 P19022 CADH2_HUMAN Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA. 379 Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding p.P379S(1) NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAACTCTGGAGGATTGTCATT 0.448000 119 129 0 0 0.003610 0 0 NLRP12 91662 broad.mit.edu 37 19 54313652 54313652 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:54313652C>T uc002qcj.4 - 2 1481 c.1261G>A c.(1261-1263)Ggg>Agg p.G421R NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G421R|NLRP12_uc002qci.4_Missense_Mutation_p.G421R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G421R NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 421 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AACAGCCCCCCACCCTCCAGC 0.622000 85 81 0 0 0.003610 0 0 ZNF226 7769 broad.mit.edu 37 19 44680330 44680330 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:44680330A>G uc002oys.3 + 5 1095 c.915A>G c.(913-915)gaA>gaG p.E305E ZNF226_uc002oyp.3_Silent_p.E305E|ZNF226_uc002oyq.3_Silent_p.E188E|ZNF226_uc002oyr.3_Silent_p.E188E|ZNF226_uc002oyt.3_Silent_p.E305E NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) ATGTGGGAGAAAAACTTAAGT 0.433000 35 14 0 0 0.003163 0 0 NLK 51701 broad.mit.edu 37 17 26370206 26370206 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:26370206C>T uc010crj.3 + 0 519 c.307C>T c.(307-309)Cct>Tct p.P103S NM_016231 NP_057315 Q9UBE8 NLK_HUMAN Homo sapiens nemo-like kinase (NLK), mRNA. 103 Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGGGCAGGCTCCTGGACCAGC 0.627000 32 26 0 0 0.003330 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736542 26736542 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr22:26736542C>T uc003acb.3 + 9 2352 c.2156C>T c.(2155-2157)tCg>tTg p.S719L SEZ6L_uc003acd.3_Missense_Mutation_p.S719L|SEZ6L_uc011akd.2_Missense_Mutation_p.S719L|SEZ6L_uc003ace.3_Missense_Mutation_p.S719L|SEZ6L_uc011akc.2_Missense_Mutation_p.S719L|SEZ6L_uc003acc.3_Missense_Mutation_p.S719L|SEZ6L_uc003acf.1_Missense_Mutation_p.S492L|SEZ6L_uc010gvc.1_Missense_Mutation_p.S492L NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 719 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CAGTTCCATTCGGACCCTGCT 0.498000 14 39 0 0 0.002222 0 0 PHC2 1912 broad.mit.edu 37 1 33840973 33840973 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:33840973G>A uc009vuh.1 - 1 657 c.168C>T c.(166-168)acC>acT p.T56T PHC2_uc001bxg.1_Silent_p.T56T|PHC2_uc001bxh.1_Silent_p.T56T|PHC2_uc001bxi.1_Silent_p.T56T NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA. 56 Gln-rich. multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TTACCTGCACGGTCTGCCGGT 0.537000 50 39 0 0 0.002522 0 0 EVPL 2125 broad.mit.edu 37 17 74020174 74020174 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:74020174G>A uc010wss.1 - 1 354 c.126C>T c.(124-126)ctC>ctT p.L42L EVPL_uc002jqi.2_Silent_p.L42L|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 42 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGCGGGAGATGAGAAGGGCCA 0.672000 25 12 0 0 0.004990 0 0 NEBL 10529 broad.mit.edu 37 10 21120485 21120485 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:21120485C>T uc001iqi.3 - 14 1874 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 493 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCTTTAATTTCAGTCTCCAGA 0.423000 10 28 0 0 0.007291 0 0 EHD3 30845 broad.mit.edu 37 2 31457696 31457696 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:31457696G>A uc002rnu.3 + 0 817 c.209G>A c.(208-210)gGg>gAg p.G70E EHD3_uc010ymt.2_Missense_Mutation_p.G70E NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 70 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TACTCCACTGGGAAGACCACC 0.642000 22 30 0 0 0.002096 0 0 FAM73B 84895 broad.mit.edu 37 9 131832549 131832549 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:131832549G>A uc004bxa.3 + 15 1785 c.1599G>A c.(1597-1599)agG>agA p.R533R FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc004bxb.3_Silent_p.R109R NM_032809 NP_116198 Q7L4E1 FA73B_HUMAN Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA. 533 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 AGTACCTGAGGGACATGTTCG 0.642000 67 23 0 0 0.008361 0 0 UPF3B 65109 broad.mit.edu 37 X 118986799 118986799 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:118986799C>T uc004erz.2 - 0 193 c.93G>A c.(91-93)ggG>ggA p.G31G UPF3B_uc004esa.2_Silent_p.G31G NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA. 31 Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TGGAGCTGTCCCCCGAGGTCC 0.637000 95 119 0 0 0.003610 0 0 MKRN3 7681 broad.mit.edu 37 15 23811889 23811889 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:23811889G>A uc001ywh.4 + 0 1436 c.960G>A c.(958-960)gaG>gaA p.E320E MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E320E NM_005664 NP_005655 Q13064 MKRN3_HUMAN Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA. 320 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding 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) TTGTCTATGAGAAGGCCAACC 0.507000 34 32 0 0 0.003271 0 0 THEMIS 387357 broad.mit.edu 37 6 128222009 128222009 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:128222009G>A uc011ebt.2 - 0 218 c.69C>T c.(67-69)atC>atT p.I23I THEMIS_uc021zfa.1_Silent_p.I23I|THEMIS_uc010kfb.3_Intron NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 23 CABIT 1. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TGCCTGCCTGGATTTCTAGAA 0.448000 23 52 0 0 0.003610 0 0 SGPP2 130367 broad.mit.edu 37 2 223339413 223339413 + Missense_Mutation SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:223339413T>C uc010zlo.2 + 1 346 c.346T>C c.(346-348)Tat>Cat p.Y116H SGPP2_uc010zlp.2_5'UTR NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA. 116 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TATTGACCCTTATTTATCCAG 0.338000 54 21 0 0 0.001882 0 0 LAMA2 3908 broad.mit.edu 37 6 129636770 129636770 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:129636770G>A uc021zfb.1 + 24 3810 c.3705G>A c.(3703-3705)tgG>tgA p.W1235* LAMA2_uc003qbn.3_Nonsense_Mutation_p.W1235*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.W1235* NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1235 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTTTTTATTGGAAACTTCCAG 0.388000 16 39 0 0 0.002852 0 0 NLRP2 55655 broad.mit.edu 37 19 55508784 55508784 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:55508784C>T uc021vbq.1 + 11 3090 c.2979C>T c.(2977-2979)ccC>ccT p.P993P NLRP2_uc010yfp.2_Silent_p.P970P|NLRP2_uc002qij.3_Silent_p.P993P|NLRP2_uc010esp.3_Silent_p.P971P|NLRP2_uc010esn.3_Silent_p.P969P|NLRP2_uc010eso.3_Silent_p.P990P NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 993 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTCAGAATCCCTTGGGGTCTA 0.542000 72 95 0 0 0.003610 0 0 ZNF749 388567 broad.mit.edu 37 19 57956042 57956043 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:57956042_57956043GG>AA uc002qoq.2 + 2 1780_1781 c.1526_1527GG>AA c.(1525-1527)cgg>cAA p.R509Q NM_001023561 NP_001018855 O43361 ZN749_HUMAN Homo sapiens zinc finger protein 749 (ZNF749), mRNA. 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) ACTGGAGAACGGCCTTATGAAT 0.455000 33 42 0 0 0.004672 0 0 EMD 2010 broad.mit.edu 37 X 153609333 153609333 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:153609333T>A uc004fkl.3 + 5 789 c.541T>A c.(541-543)Tat>Aat p.Y181N NM_000117 NP_000108 P50402 EMD_HUMAN Homo sapiens emerin (EMD), mRNA. 181 Interaction with CTNNB1.|Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGACCTGTCCTATTATCCTAC 0.587000 45 41 0 0 0.006230 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T C C rs112064181 by1000genomes TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:29061941T>C uc021tug.1 + 1 c.231T>C SUZ12P1_uc002hfp.3_Non-coding_Transcript|SUZ12P1_uc002hfq.3_Non-coding_Transcript Homo sapiens suppressor of zeste 12 homolog pseudogene (SUZ12P), non-coding RNA. TAGATTTCTTTGAACTCGGAA 0.303000 90 5 0 0 0.000602 0 0 XIRP2 129446 broad.mit.edu 37 2 168103229 168103229 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:168103229G>A uc002udx.3 + 8 5416 c.5327G>A c.(5326-5328)gGa>gAa p.G1776E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1601E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1554E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1601 actin cytoskeleton organization cell junction actin binding p.G1776E(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAACAAGAAGGAGAGAAAGAA 0.398000 24 55 0 0 0.003610 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12918083 12918083 + Missense_Mutation SNP T G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:12918083T>G uc002mvg.1 + 2 323 c.263T>G c.(262-264)tTt>tGt p.F88C NM_006397 NP_006388 O75792 RNH2A_HUMAN Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA. 88 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex RNA binding|metal ion binding|ribonuclease H activity breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 GACACGGACTTTGTCGGCTGG 0.597000 126 48 0 0 0.003610 0 0 VGLL1 51442 broad.mit.edu 37 X 135631094 135631094 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:135631094G>A uc004ezy.3 + 2 731 c.561G>A c.(559-561)agG>agA p.R187R MIR934_uc022cev.1_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA. 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity p.A186T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CTGCCGCCAGGGAGAATGGCA 0.567000 70 64 0 0 0.003610 0 0 P4HA1 5033 broad.mit.edu 37 10 74813221 74813221 + Silent SNP G C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:74813221G>C uc021ptk.1 - 4 623 c.591C>G c.(589-591)ggC>ggG p.G197G P4HA1_uc010qka.2_Silent_p.G197G|P4HA1_uc001jth.3_Silent_p.G197G|P4HA1_uc001jtg.3_Silent_p.G197G|P4HA1_uc010qkb.2_Silent_p.G197G|P4HA1_uc021ptj.1_Silent_p.G197G NM_001142595 NP_001136067 P13674 P4HA1_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA. 197 endoplasmic reticulum lumen|mitochondrion L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TAGAAATCTCGCCTTCATCCA 0.448000 46 18 0 0 0.007413 0 0 SLC12A8 84561 broad.mit.edu 37 3 124807165 124807165 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:124807165G>A uc003ehw.4 - 12 2128 c.2058C>T c.(2056-2058)ctC>ctT p.L686L SLC12A8_uc003ehv.4_Silent_p.L657L|SLC12A8_uc003eht.4_Silent_p.L458L|SLC12A8_uc010hry.3_Intron NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 657 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TGCAGGAGGGGAGCAAGAGAG 0.517000 22 16 0 0 0.006122 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692950 26692950 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr22:26692950G>A uc003acb.3 + 3 1262 c.1066G>A c.(1066-1068)Gag>Aag p.E356K SEZ6L_uc003acd.3_Missense_Mutation_p.E356K|SEZ6L_uc011akd.2_Missense_Mutation_p.E356K|SEZ6L_uc003ace.3_Missense_Mutation_p.E356K|SEZ6L_uc011akc.2_Missense_Mutation_p.E356K|SEZ6L_uc003acc.3_Missense_Mutation_p.E356K|SEZ6L_uc003acf.1_Missense_Mutation_p.E129K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E129K NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 356 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACTCCTGGTGGAGGGGCAGGT 0.622000 11 24 0 0 0.003330 0 0 DARC 2532 broad.mit.edu 37 1 159176010 159176010 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:159176010G>A uc001ftp.4 + 0 962 c.787G>A c.(787-789)Gga>Aga p.G263R DARC_uc001fto.3_Missense_Mutation_p.G261R NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 261 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GGTGGTTCTAGGACTGGATTT 0.567000 182 37 0 0 0.003755 0 0 KL 9365 broad.mit.edu 37 13 33635527 33635527 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:33635527C>T uc001uus.3 + 3 2319 c.2311C>T c.(2311-2313)Cca>Tca p.P771S KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 771 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGGAGATTATCCATGGGTGAT 0.443000 52 22 0 0 0.003330 0 0 CCDC63 160762 broad.mit.edu 37 12 111345145 111345145 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:111345145C>T uc001trv.1 + 11 1752 c.1557C>T c.(1555-1557)ccC>ccT p.P519P CCDC63_uc010sye.1_Silent_p.P479P|CCDC63_uc001trw.1_Silent_p.P434P NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 519 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TGGAACAGCCCCTGGACCACA 0.572000 25 15 0 0 0.003163 0 0 UGT8 7368 broad.mit.edu 37 4 115586899 115586899 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:115586899A>T uc003ibs.2 + 3 1551 c.1029A>T c.(1027-1029)caA>caT p.Q343H UGT8_uc003ibt.2_Missense_Mutation_p.Q343H|UGT8_uc011cge.1_Non-coding_Transcript NM_001128174 NP_003351 Q16880 CGT_HUMAN Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA. 343 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) GGTTACCACAAAATGACCTGC 0.323000 27 16 0 0 0.004990 0 0 CLNK 116449 broad.mit.edu 37 4 10599619 10599619 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:10599619G>A uc003gmo.4 - 2 203 c.66C>T c.(64-66)ttC>ttT p.F22F CLNK_uc003gmp.3_5'UTR NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA. 22 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 TTGGCAGACTGAAGTTCTGGA 0.338000 6 5 0 0 0.000602 0 0 DUSP15 128853 broad.mit.edu 37 20 30438438 30438438 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:30438438G>A uc002wwu.1 - 6 545 c.468C>T c.(466-468)tgC>tgT p.C156C Q9H1R2 DUS15_HUMAN Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA. 156 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCATCGGAGGGCATTGGGCAC 0.602000 16 6 0 0 0.003080 0 0 POLG 5428 broad.mit.edu 37 15 89873432 89873432 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:89873432G>A uc002bns.4 - 2 1017 c.735C>T c.(733-735)atC>atT p.I245I POLG_uc002bnr.4_Silent_p.I245I NM_002693 NP_002684 P54098 DPOG1_HUMAN Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA. 245 DNA-dependent DNA replication|base-excision repair, gap-filling|cell death mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding 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) CCTCCAGGGGGATGAGGTCAG 0.612000 DNA polymerases (catalytic subunits) 27 41 0 0 0.008740 0 0 CCR7 1236 broad.mit.edu 37 17 38711855 38711855 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:38711855C>T uc002huw.3 - 2 351 c.276G>A c.(274-276)atG>atA p.M92I NM_001838 NP_001829 P32248 CCR7_HUMAN Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA. 92 T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) AGGTATCGGTCATGGTCTTGA 0.552000 43 66 0 0 0.003610 0 0 ADAM18 8749 broad.mit.edu 37 8 39467023 39467023 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:39467023G>A uc003xni.3 + 4 342 c.287G>A c.(286-288)gGa>gAa p.G96E ADAM18_uc003xnh.3_Missense_Mutation_p.G96E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G96E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 96 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTACCAAGGATATGCTGCC 0.328000 27 13 0 0 0.002450 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418350 105418350 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:105418350C>T uc010axc.1 - 6 3558 c.3438G>A c.(3436-3438)gaG>gaA p.E1146E AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.E1046E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 1146 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACAGTTCCCCCTCCAGCCGCG 0.632000 188 74 0 0 0.003610 0 0 COL5A1 1289 broad.mit.edu 37 9 137659200 137659200 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:137659200G>A uc004cfe.3 + 24 2614 c.2232_splice c.e24+1 p.K744_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 744 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGGAGAAAAGGTAGGTGGGC 0.612000 36 11 0 0 0.001368 0 0 GPA33 10223 broad.mit.edu 37 1 167032862 167032862 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:167032862C>T uc001gea.1 - 3 872 c.528G>A c.(526-528)aaG>aaA p.K176K NM_005814 NP_005805 Q99795 GPA33_HUMAN Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA. 176 Ig-like C2-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGTTGTACCTCTTCCAGCTGT 0.572000 109 14 0 0 0.003163 0 0 PTK6 5753 broad.mit.edu 37 20 62168557 62168557 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:62168557C>T uc002yfg.3 - 0 151 c.111G>A c.(109-111)gtG>gtA p.V37V PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Silent_p.V37V NM_005975 NP_005966 Q13882 PTK6_HUMAN Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA. 37 SH3. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CCTTCCTGGCCACGTGGAAGA 0.692000 20 4 0 0 0.000248 0 0 STXBP5L 9515 broad.mit.edu 37 3 120628589 120628589 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:120628589C>T uc003eec.4 + 1 304 c.164C>T c.(163-165)aCt>aTt p.T55I STXBP5L_uc011bji.2_Missense_Mutation_p.T55I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 55 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.L54F(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GAAACTTTGACTTCGGAGTAT 0.448000 35 6 0 0 0.003080 0 0 RASD1 51655 broad.mit.edu 37 17 17398703 17398703 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:17398703C>T uc002gri.3 - 1 796 c.582G>A c.(580-582)atG>atA p.M194I RASD1_uc021trg.1_3'UTR NM_016084 NP_057168 Q9Y272 RASD1_HUMAN Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA. 194 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GCAGCTTGGCCATGGCGAAGA 0.637000 12 6 0 0 0.003080 0 0 ANK2 287 broad.mit.edu 37 4 114254312 114254312 + Missense_Mutation SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:114254312C>G uc003ibe.4 + 28 3427 c.3327C>G c.(3325-3327)ttC>ttG p.F1109L ANK2_uc003ibd.4_Missense_Mutation_p.F1100L|ANK2_uc003ibf.4_Missense_Mutation_p.F1109L|ANK2_uc011cgc.2_Missense_Mutation_p.F285L|ANK2_uc003ibg.4_Missense_Mutation_p.F104L|ANK2_uc003ibc.2_Missense_Mutation_p.F1085L|ANK2_uc011cgb.1_Missense_Mutation_p.F1124L NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1076 Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGAGCATTTCTGTGACTACA 0.453000 31 26 0 0 0.005443 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298919 125298919 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:125298919G>A uc004euk.2 - 0 1162 c.989C>T c.(988-990)tCc>tTc p.S330F NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 330 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 ATCCAGGAAGGAGACGTGGGA 0.617000 95 31 0 0 0.002096 0 0 CCDC158 339965 broad.mit.edu 37 4 77250090 77250090 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:77250090C>T uc003hkb.4 - 20 3114 c.2961G>A c.(2959-2961)agG>agA p.R987R NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 987 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGGGATCTTCCCTGTCTCCTG 0.443000 26 15 0 0 0.002450 0 0 SELPLG 6404 broad.mit.edu 37 12 109017681 109017681 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:109017681G>A uc010sxe.2 - 1 628 c.451C>T c.(451-453)Caa>Taa p.Q151* SELPLG_uc001tni.3_Nonsense_Mutation_p.Q135*|SELPLG_uc021rdm.1_Intron|SELPLG_uc001tnh.3_Intron NM_001206609 NP_001193538 Q14242 SELPL_HUMAN Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA. 135 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GGCACTGGTTGAGTGGTCTGT 0.617000 98 32 0 0 0.003271 0 0 FAM86FP 653113 broad.mit.edu 37 12 8384397 8384397 + RNA SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:8384397C>G uc010sgk.2 - 4 c.1391G>C Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA. CCCCAGGGCCCCTGCTGTCCT 0.587000 38 3 0 0 0.001984 0 0 GPR116 221395 broad.mit.edu 37 6 46826901 46826901 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:46826901G>A uc003oyo.3 - 16 3028 c.2739C>T c.(2737-2739)atC>atT p.I913I GPR116_uc011dwj.1_Silent_p.I468I|GPR116_uc011dwk.1_Silent_p.I342I|GPR116_uc003oyp.3_Silent_p.I771I|GPR116_uc003oyq.3_Silent_p.I913I|GPR116_uc010jzi.1_Silent_p.I585I NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 913 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TATTTTCCTGGATATCCTGGG 0.428000 60 46 0 0 0.003610 0 0 OR2A12 346525 broad.mit.edu 37 7 143793069 143793069 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:143793069G>A uc011kty.2 + 0 869 c.869G>A c.(868-870)aGc>aAc p.S290N NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) CTCATCTACAGCCTTAGGAAT 0.463000 238 85 0 0 0.003610 0 0 GLP1R 2740 broad.mit.edu 37 6 39047370 39047370 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:39047370C>T uc003ooj.4 + 10 1134 c.1074C>T c.(1072-1074)ccC>ccT p.P358P GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 358 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CACTCATCCCCCTGCTGGGGA 0.567000 69 38 0 0 0.005524 0 0 CLCN1 1180 broad.mit.edu 37 7 143018840 143018840 + Missense_Mutation SNP C T T rs143506735 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:143018840C>T uc003wcr.1 + 4 682 c.595C>T c.(595-597)Cgt>Tgt p.R199C CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.R47C NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 199 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GACAATACTTCGTGGGGTTGT 0.507000 58 23 0 0 0.002780 0 0 SCML2 10389 broad.mit.edu 37 X 18264864 18264864 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:18264864C>T uc004cyl.2 - 12 1812 c.1655G>A c.(1654-1656)gGa>gAa p.G552E SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.G552E|SCML2_uc011miz.1_Missense_Mutation_p.G486E|SCML2_uc010nfc.2_Missense_Mutation_p.G288E NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 552 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CAAATAATTTCCTGAATTTAG 0.418000 88 91 0 0 0.003610 0 0 COL4A5 1287 broad.mit.edu 37 X 107850122 107850123 + Splice_Site DNP GG AA AA rs104886178 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:107850122_107850123GG>AA uc022ccg.1 + 29 2597 c.2395_splice c.e29+1 p.G799_splice COL4A5_uc004enz.1_Splice_Site_p.G799_splice|COL4A5_uc004eob.1_Splice_Site_p.G407_splice NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 799 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGACCAAAAGGTATGGAGGCT 0.480000 Alport syndrome with Diffuse Leiomyomatosis 68 57 0 0 0.004672 0 0 SAA2-SAA4 100528017 broad.mit.edu 37 11 18269549 18269549 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:18269549G>A uc021qel.1 - 1 86 c.10C>T c.(10-12)Ctc>Ttc p.L4F SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.L4F|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.L4F NM_001199744 NP_001186673 Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA. AGGCCCGTGAGAAGCTTCATG 0.512000 47 4 0 0 0.000602 0 0 CTNND2 1501 broad.mit.edu 37 5 11082931 11082931 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:11082931G>A uc003jfa.1 - 15 2810 c.2665C>T c.(2665-2667)Cga>Tga p.R889* CTNND2_uc010itt.2_Nonsense_Mutation_p.R798*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R552*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R456*|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R481* NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 889 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.R889*(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCTCTTTTCGGACAGCGGCT 0.537000 35 34 0 0 0.005524 0 0 SLC12A1 6557 broad.mit.edu 37 15 48539583 48539583 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:48539583G>A uc001zwn.4 + 12 1826 c.1610G>A c.(1609-1611)gGa>gAa p.G537E SLC12A1_uc010uew.1_Missense_Mutation_p.G343E|SLC12A1_uc010bem.3_Missense_Mutation_p.G537E|SLC12A1_uc001zwq.4_Missense_Mutation_p.G308E|SLC12A1_uc001zwr.4_Missense_Mutation_p.G264E NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 537 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTTGCAAAGGGATATGGGAAA 0.348000 33 31 0 0 0.003271 0 0 THBS2 7058 broad.mit.edu 37 6 169639732 169639732 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:169639732G>A uc003qwt.3 - 7 1339 c.1091C>T c.(1090-1092)tCc>tTc p.S364F NM_003247 NP_003238 P35442 TSP2_HUMAN Homo sapiens thrombospondin 2 (THBS2), mRNA. 364 VWFC. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTCCACAAAGGATGGACTGGC 0.483000 4 12 0 0 0.002450 0 0 ERN2 10595 broad.mit.edu 37 16 23707279 23707279 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:23707279C>T uc002dma.4 - 13 1859 c.1690G>A c.(1690-1692)Ggg>Agg p.G564R ERN2_uc010bxp.3_Missense_Mutation_p.G512R NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 516 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GAAATCTTCCCCACTACGGTG 0.637000 54 10 0 0 0.001368 0 0 LILRP2 79166 broad.mit.edu 37 19 55221995 55221995 + RNA SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:55221995C>T uc002qgs.1 + 0 c.2395C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. TGGACACTTTCCTTCTGACCA 0.622000 39 15 0 0 0.002450 0 0 MMS22L 253714 broad.mit.edu 37 6 97599701 97599701 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:97599701G>A uc003ppb.3 - 22 3694 c.3428C>T c.(3427-3429)gCc>gTc p.A1143V MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.A1103V NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA. 1143 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CACTTGGCAGGCTTTTACCAT 0.458000 174 29 0 0 0.002096 0 0 CACNA1B 774 broad.mit.edu 37 9 140878646 140878646 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:140878646C>T uc004cog.3 + 12 1858 c.1713C>T c.(1711-1713)tcC>tcT p.S571S CACNA1B_uc022bqn.1_Silent_p.S571S|CACNA1B_uc011mfd.2_Silent_p.S173S NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 571 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGGGAAGCTCCTTTGGGATCA 0.622000 12 7 0 0 0.004482 0 0 TEX10 54881 broad.mit.edu 37 9 103111476 103111476 + Missense_Mutation SNP A C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:103111476A>C uc004bas.3 - 1 385 c.170T>G c.(169-171)cTt>cGt p.L57R TEX10_uc011lvf.2_5'Flank|TEX10_uc011lvg.2_Missense_Mutation_p.L60R|TEX10_uc011lvh.1_Intron NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA. 57 MLL1 complex|integral to membrane|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) CTTTATGTTAAGTTTTCTATT 0.289000 13 20 0 0 0.001523 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481643 27481643 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:27481643G>A uc002rjk.3 - 1 441 c.255C>T c.(253-255)gtC>gtT p.V85V SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Silent_p.V80V NM_003459 NP_003450 Q99726 ZNT3_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA. 85 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCCATGAAGACAAAGCAAA 0.607000 97 11 0 0 0.001855 0 0 VARS 7407 broad.mit.edu 37 6 31747282 31747282 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:31747282G>A uc003nxe.3 - 27 3743 c.3320C>T c.(3319-3321)gCc>gTc p.A1107V VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.A44V NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 1107 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CAGCTCAAGGGCGGCTTCTGC 0.687000 199 167 0 0 0.003610 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 118633 118633 + Missense_Mutation SNP G C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrGL000209.1:118633G>C uc010yie.2 + 2 121 c.110G>C c.(109-111)cGc>cCc p.R37P KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.R34P|KIR2DL2_uc002qum.3_Missense_Mutation_p.R37P NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 37 R -> P (in dbSNP:rs613240). regulation of immune response integral to membrane|plasma membrane receptor activity CACCCAGGTCGCCTGGTGAAA 0.488000 241 7 0 0 0.001984 0 0 SPAG17 200162 broad.mit.edu 37 1 118550790 118550790 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:118550790C>T uc001ehk.2 - 30 4532 c.4464G>A c.(4462-4464)gtG>gtA p.V1488V SPAG17_uc021osr.1_5'UTR NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1488 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCATACACTTCACCTGCCTGG 0.493000 71 11 0 0 0.001855 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131688755 131688755 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:131688755G>A uc002tsa.1 + 2 744 c.225G>A c.(223-225)caG>caA p.Q75Q ARHGEF4_uc010fmw.1_Silent_p.Q721Q|ARHGEF4_uc002tsb.1_Silent_p.Q75Q|ARHGEF4_uc010fmx.1_Silent_p.Q75Q|ARHGEF4_uc002trz.1_Silent_p.Q721Q NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 75 ABR (APC-binding region) domain. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGAAGACACAGAGAAAGAAGT 0.597000 21 11 0 0 0.008291 0 0 BRD2 6046 broad.mit.edu 37 6 32944456 32944456 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:32944456C>T uc010juh.3 + 5 2247 c.943C>T c.(943-945)Cct>Tct p.P315S BRD2_uc003ocn.4_Missense_Mutation_p.P315S|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.P195S|BRD2_uc003ocq.4_Missense_Mutation_p.P315S|BRD2_uc021ywf.1_Missense_Mutation_p.P268S NM_001199455 NP_001186384 P25440 BRD2_HUMAN Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA. 315 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 ACGGCTTCCCCCTATGCGTAG 0.552000 94 12 0 0 0.003163 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459496 107459496 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:107459496T>A uc002tdq.3 - 1 1057 c.938A>T c.(937-939)gAa>gTa p.E313V ST6GAL2_uc002tdr.3_Missense_Mutation_p.E313V|ST6GAL2_uc002tds.3_Missense_Mutation_p.E313V NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 313 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CCTACCTATTTCCTCGCCCAA 0.667000 11 4 0 0 0.001168 0 0 ZNF544 27300 broad.mit.edu 37 19 58772459 58772460 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:58772459_58772460GG>AA uc010euo.3 + 6 961_962 c.487_488GG>AA c.(487-489)gga>AAa p.G163K ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.G135K|ZNF544_uc010yhy.2_Missense_Mutation_p.G135K|ZNF544_uc002qrt.4_Missense_Mutation_p.G21K|ZNF544_uc002qru.4_Missense_Mutation_p.G21K|BC063675_uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN Homo sapiens zinc finger protein 544 (ZNF544), mRNA. 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|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;0.17)|GBM - Glioblastoma multiforme(193;0.018) TGAACTTGGGGGAGGTTATTCT 0.436000 48 10 0 0 0.004672 0 0 MOSPD2 158747 broad.mit.edu 37 X 14915261 14915261 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:14915261G>A uc004cwi.3 + 4 502 c.378G>A c.(376-378)aaG>aaA p.K126K MOSPD2_uc004cwj.3_Silent_p.K63K NM_152581 NP_001170946 Q8NHP6 MSPD2_HUMAN Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA. 126 CRAL-TRIO. integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) TGGACAAAAAGAAGCTCATAG 0.363000 76 25 0 0 0.007291 0 0 OR52J3 119679 broad.mit.edu 37 11 5067811 5067811 + Missense_Mutation SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:5067811T>C uc010qyv.2 + 0 56 c.56T>C c.(55-57)aTc>aCc p.I19T NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCATTGGAATCCCAGGTCTG 0.453000 12 38 0 0 0.003610 0 0 C15orf2 23742 broad.mit.edu 37 15 24921168 24921168 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:24921168C>T uc001ywo.3 + 0 628 c.154C>T c.(154-156)Cgc>Tgc p.R52C NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 52 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CGGCCTGTTCCGCCGGAACGC 0.751000 50 14 0 0 0.004007 0 0 LILRB2 10288 broad.mit.edu 37 19 54782907 54782907 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:54782907C>T uc002qfb.3 - 5 981 c.715G>A c.(715-717)Gaa>Aaa p.E239K LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.E239K|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.E239K|LILRB2_uc010yet.2_Missense_Mutation_p.E123K|LILRB2_uc010yeu.1_Intron NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 239 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTCAGGCTTTCCCCAGGGGCC 0.592000 70 19 0 0 0.001523 0 0 JAG1 182 broad.mit.edu 37 20 10622123 10622123 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:10622123C>T uc002wnw.2 - 22 3417 c.2901G>A c.(2899-2901)aaG>aaA p.K967K JAG1_uc010gcd.1_Silent_p.K525K NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 967 Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ACATCATCTCCTTGTTAAAGG 0.443000 Alagille Syndrome 70 88 0 0 0.003610 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369802 86369803 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:86369802_86369803CC>TT uc001vll.1 - 1 1300_1301 c.841_842GG>AA c.(841-843)gga>AAa p.G281K SLITRK6_uc021rla.1_Missense_Mutation_p.G281K NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 281 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATGTAATGATCCTGAAGGATCC 0.406000 79 17 0 0 0.004672 0 0 CSMD3 114788 broad.mit.edu 37 8 114111073 114111073 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:114111073C>T uc003ynu.3 - 4 988 c.829G>A c.(829-831)Gac>Aac p.D277N CSMD3_uc003ynt.3_Missense_Mutation_p.D237N|CSMD3_uc011lhx.2_Missense_Mutation_p.D277N|CSMD3_uc010mcx.1_Missense_Mutation_p.D277N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 277 CUB 2. integral to membrane|plasma membrane 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 GAAATTGTGTCCCCAGGCTCT 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 15 0 0 0.002450 0 0 POF1B 79983 broad.mit.edu 37 X 84586003 84586003 + Missense_Mutation SNP G A A rs148186919 by1000genomes TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:84586003G>A uc004eer.2 - 6 952 c.806C>T c.(805-807)aCg>aTg p.T269M POF1B_uc004ees.3_Missense_Mutation_p.T269M NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 269 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 ATATAGATCCGTATTCTTACG 0.383000 19 30 0 0 0.008361 0 0 DLG2 1740 broad.mit.edu 37 11 83344290 83344290 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:83344290G>A uc001paj.2 - 13 1892 c.1589C>T c.(1588-1590)tCc>tTc p.S530F DLG2_uc001pai.2_Missense_Mutation_p.S427F|DLG2_uc010rsy.1_Missense_Mutation_p.S497F|DLG2_uc021qof.1_Missense_Mutation_p.S569F|DLG2_uc010rsz.1_Missense_Mutation_p.S530F|DLG2_uc010rta.1_Missense_Mutation_p.S530F|DLG2_uc001pak.2_Missense_Mutation_p.S635F|DLG2_uc010rtb.1_Missense_Mutation_p.S497F|DLG2_uc001pal.1_Missense_Mutation_p.S530F|DLG2_uc010rsx.1_Missense_Mutation_p.S11F|DLG2_uc010rsw.1_Missense_Mutation_p.S12F NM_001364 NP_001355 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA. 530 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.S530F(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GGTTCGCAGGGATCCGGACCC 0.473000 24 17 0 0 0.007413 0 0 MYC 4609 broad.mit.edu 37 8 128750680 128750680 + Missense_Mutation SNP A C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:128750680A>C uc022bbe.1 + 1 742 c.172A>C c.(172-174)Acc>Ccc p.T58P MYC_uc003ysh.1_Missense_Mutation_p.T58P|MYC_uc003ysi.3_Missense_Mutation_p.T73P P01106 MYC_HUMAN Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA. 58 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GCTGCTGCCCACCCCGCCCCT 0.677000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 9 0 0 0.001368 0 0 C9 735 broad.mit.edu 37 5 39311416 39311416 + Missense_Mutation SNP C T T rs147710831 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:39311416C>T uc003jlv.4 - 6 1023 c.934G>A c.(934-936)Gat>Aat p.D312N NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 312 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex p.R311C(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AGCACAACATCGCGATTTCTC 0.368000 64 23 0 0 0.002780 0 0 C2orf55 343990 broad.mit.edu 37 2 99448906 99448906 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:99448906C>T uc002szf.1 - 4 739 c.445G>A c.(445-447)Gag>Aag p.E149K NM_207362 NP_997245 Q6NV74 CB055_HUMAN Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA. 149 NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 CCGGCATCCTCTCCCCGCTTG 0.552000 39 58 0 0 0.003610 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547701 125547701 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:125547701G>A uc010flu.3 + 17 3339 c.2975G>A c.(2974-2976)gGg>gAg p.G992E CNTNAP5_uc002tno.3_Missense_Mutation_p.G991E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 991 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCTTATGAAGGGCCCTTTTGC 0.522000 37 11 0 0 0.008291 0 0 ADAM21 8747 broad.mit.edu 37 14 70924754 70924754 + Missense_Mutation SNP G A A rs143022031 byFrequency TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:70924754G>A uc021rvq.1 + 0 538 c.538G>A c.(538-540)Gta>Ata p.V180I ADAM21_uc001xmd.3_Missense_Mutation_p.V180I NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 180 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGAGAAGGAAGTAGCACGCCA 0.458000 58 7 0 0 0.001984 0 0 RASGRP1 10125 broad.mit.edu 37 15 38792333 38792333 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:38792333C>T uc001zke.4 - 13 1869 c.1691G>A c.(1690-1692)gGa>gAa p.G564E RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.G391E|RASGRP1_uc010bbg.3_Missense_Mutation_p.G391E|RASGRP1_uc001zkd.4_Missense_Mutation_p.G529E NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 564 Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TTTGATCACTCCCCAGAGCTA 0.413000 120 33 0 0 0.004878 0 0 SYT4 6860 broad.mit.edu 37 18 40850574 40850574 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:40850574C>T uc002law.3 - 3 1379 c.1010G>A c.(1009-1011)aGa>aAa p.R337K SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.R319K NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 337 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 CTTGGAGATTCTCTTTTTGGC 0.428000 31 26 0 0 0.002096 0 0 RANBP9 10048 broad.mit.edu 37 6 13644842 13644842 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:13644842G>A uc003nbb.3 - 5 1106 c.1047C>T c.(1045-1047)atC>atT p.I349I RANBP9_uc003nba.3_Silent_p.I8I NM_005493 NP_005484 Q96S59 RANB9_HUMAN Homo sapiens RAN binding protein 9 (RANBP9), mRNA. 349 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TCTGTGCCTGGATTTTGGTTC 0.428000 114 26 0 0 0.004656 0 0 ADORA1 134 broad.mit.edu 37 1 203134630 203134630 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:203134630C>T uc010pqh.1 + 2 719 c.682C>T c.(682-684)Ctc>Ttc p.L228F ADORA1_uc001gzf.1_Missense_Mutation_p.L195F|ADORA1_uc001gze.1_Missense_Mutation_p.L195F|ADORA1_uc010pqg.1_Missense_Mutation_p.L127F|ADORA1_uc009xak.1_Missense_Mutation_p.P120L NM_001048230 NP_001041695 P30542 AA1R_HUMAN Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA. 195 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CCCGCTTCTCCTCATGGTCCT 0.552000 113 19 0 0 0.001523 0 0 OR51B5 282763 broad.mit.edu 37 11 5364610 5364610 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:5364610C>T uc001map.1 - 0 145 c.145G>A c.(145-147)Gaa>Aaa p.E49K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E49K NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGTGATCTTCCTTAATGAGA 0.498000 31 23 0 0 0.002299 0 0 C20orf152 140894 broad.mit.edu 37 20 34568455 34568455 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:34568455C>T uc002xer.1 + 3 474 c.318C>T c.(316-318)gcC>gcT p.A106A C20orf152_uc002xes.1_Silent_p.A106A|C20orf152_uc010gfp.1_Non-coding_Transcript NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 106 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) AGATCCAGGCCGTCTGTAACA 0.542000 43 46 0 0 0.002852 0 0 PKN3 29941 broad.mit.edu 37 9 131476863 131476863 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:131476863C>T uc004bvw.3 + 11 1897 c.1504C>T c.(1504-1506)Ccc>Tcc p.P502S PKN3_uc010myh.3_Missense_Mutation_p.P502S|PKN3_uc022bom.1_Non-coding_Transcript NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN Homo sapiens protein kinase N3 (PKN3), mRNA. 502 Pro-rich. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CAAGAAGACCCCCTTGGGTGA 0.597000 50 36 0 0 0.004289 0 0 CHGB 1114 broad.mit.edu 37 20 5904000 5904000 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:5904000G>A uc002wmg.3 + 3 1516 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K CHGB_uc010zqz.2_Missense_Mutation_p.E87K NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 404 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ATATGGTGAAGAAAGTGAGGA 0.542000 93 19 0 0 0.008871 0 0 WIPF2 147179 broad.mit.edu 37 17 38430095 38430095 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:38430095C>T uc002hug.1 + 5 1264 c.1024C>T c.(1024-1026)Ccc>Tcc p.P342S WIPF2_uc002huh.1_Missense_Mutation_p.P192S|WIPF2_uc010cww.1_Missense_Mutation_p.P192S|WIPF2_uc002hui.1_Missense_Mutation_p.P342S|WIPF2_uc010cwx.1_Missense_Mutation_p.P84S|WIPF2_uc010cwy.1_Missense_Mutation_p.P342S NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA. 342 Poly-Pro. cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 TGCTCCCCCTCCCCCACCACC 0.607000 HNSCC(43;0.11) 48 12 0 0 0.000978 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984913 41984913 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:41984913C>T uc003gwk.2 + 0 1201 c.1104C>T c.(1102-1104)ttC>ttT p.F368F NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA. 368 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GCGTGGCCTTCGCTTCTCGGC 0.607000 22 10 0 0 0.006214 0 0 EFR3A 23167 broad.mit.edu 37 8 132991155 132991155 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:132991155C>T uc003yte.3 + 12 1592 c.1388C>T c.(1387-1389)cCt>cTt p.P463L NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 463 plasma membrane binding p.D462Y(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTCCTGGATCCTTTGTTATCA 0.428000 60 20 0 0 0.007413 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384575 21384575 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr22:21384575C>T uc002zud.3 - 2 1116 c.1048G>A c.(1048-1050)Gat>Aat p.D350N SLC7A4_uc002zue.3_Missense_Mutation_p.D350N NM_004173 NP_004164 O43246 CTR4_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA. 350 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AAGAGCCCATCGGCGGCCATG 0.642000 10 40 0 0 0.003610 0 0 CBS 875 broad.mit.edu 37 21 44485567 44485567 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr21:44485567G>A uc002zcu.2 - 6 841 c.596C>T c.(595-597)tCc>tTc p.S199F CBS_uc002zcs.1_Missense_Mutation_p.S94F|CBS_uc002zct.2_Missense_Mutation_p.S199F|CBS_uc002zcw.3_Missense_Mutation_p.S199F|CBS_uc002zcv.2_Missense_Mutation_p.S199F NM_000071 NP_001171480 P35520 CBS_HUMAN Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA. 199 L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding p.D198E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) TGACTCCGGGGAGTCGAACCT 0.642000 278 187 0 0 0.003610 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110437414 110437414 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:110437414C>T uc003yne.3 + 23 2902 c.2798C>T c.(2797-2799)cCt>cTt p.P933L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 933 immune response cytosol|extracellular space|integral to membrane receptor activity p.A932A(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCATCTCCACCTCTAAGTGGC 0.348000 HNSCC(38;0.096) 20 8 0 0 0.003080 0 0 CEP290 80184 broad.mit.edu 37 12 88462406 88462406 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:88462406G>A uc001tar.3 - 43 6372 c.6028C>T c.(6028-6030)Cct>Tct p.P2010S CEP290_uc001taq.3_Missense_Mutation_p.P1070S NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 2010 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 GAATCTCGAGGAAGAGCTTGG 0.303000 39 50 0 0 0.003610 0 0 ZNF226 7769 broad.mit.edu 37 19 44680334 44680334 + Missense_Mutation SNP C A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:44680334C>A uc002oys.3 + 5 1099 c.919C>A c.(919-921)Ctt>Att p.L307I ZNF226_uc002oyp.3_Missense_Mutation_p.L307I|ZNF226_uc002oyq.3_Missense_Mutation_p.L190I|ZNF226_uc002oyr.3_Missense_Mutation_p.L190I|ZNF226_uc002oyt.3_Missense_Mutation_p.L307I NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GGGAGAAAAACTTAAGTGTGA 0.433000 36 12 7.93312e-07 1.31442e-06 0.002450 1 0 MIER2 54531 broad.mit.edu 37 19 326591 326591 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:326591G>A uc002lok.1 - 5 510 c.501C>T c.(499-501)ttC>ttT p.F167F NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R166C(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATCAGCCAGGAAACGAGCTT 0.557000 47 31 0 0 0.007291 0 0 PIK3CG 5294 broad.mit.edu 37 7 106522626 106522626 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:106522626G>A uc003vdv.4 + 6 2688 c.2603G>A c.(2602-2604)gGt>gAt p.G868D PIK3CG_uc003vdu.3_Missense_Mutation_p.G868D|PIK3CG_uc003vdw.3_Missense_Mutation_p.G868D NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 868 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.Y867C(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CTGCCATATGGTTGCATTTCA 0.378000 33 24 0 0 0.004656 0 0 DDX18 8886 broad.mit.edu 37 2 118575251 118575251 + Missense_Mutation SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:118575251A>G uc002tlh.1 + 1 416 c.317A>G c.(316-318)gAa>gGa p.E106G NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA. 106 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCAATTCAGAATCAAAAAAG 0.353000 122 41 0 0 0.006230 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386440 56386440 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:56386440C>T uc002ivx.4 - 21 5064 c.4193G>A c.(4192-4194)gGa>gAa p.G1398E BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1338E|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1398E NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1398 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACCAACTAATCCAGGCATGTC 0.647000 133 34 0 0 0.003271 0 0 ASIC2 40 broad.mit.edu 37 17 32483265 32483265 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:32483265C>T uc002hhu.3 - 0 561 c.287G>A c.(286-288)gGc>gAc p.G96D NM_001094 NP_001085 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA. 96 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GAACCGGAAGCCATTCAGGTT 0.577000 32 39 0 0 0.006999 0 0 MTTP 4547 broad.mit.edu 37 4 100527972 100527972 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:100527972G>A uc011cej.2 + 10 1506 c.1493G>A c.(1492-1494)aGg>aAg p.R498K MTTP_uc003hvc.4_Missense_Mutation_p.R471K NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 471 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GAGGACACCAGGATGTATCTG 0.458000 33 18 0 0 0.006122 0 0 CD200 4345 broad.mit.edu 37 3 112054804 112054804 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:112054804A>G uc003dyw.3 + 1 171 c.27A>G c.(25-27)acA>acG p.T9T CD200_uc010hqd.1_Intron|CD200_uc003dyx.3_Intron|CD200_uc003dyz.3_Intron|CD200_uc003dyy.3_Intron NM_001004196 NP_001004196 P41217 OX2G_HUMAN Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA. 0 regulation of immune response integral to plasma membrane p.T9K(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) TGACCAGGACAATTGGGGGCC 0.458000 71 70 0 0 0.003610 0 0 DEFB119 245932 broad.mit.edu 37 20 29965096 29965096 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:29965096C>T uc002wvt.3 - 1 328 c.208G>A c.(208-210)Gaa>Aaa p.E70K DEFB119_uc002wvs.3_3'UTR NM_153289 NP_695021 Q8N690 DB119_HUMAN Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA. 70 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCGGTATTTTCCTCTTTGCCA 0.488000 53 63 0 0 0.003610 0 0 GRM7 2917 broad.mit.edu 37 3 7620949 7620949 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:7620949G>A uc003bqm.2 + 7 2630 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E786K|GRM7_uc003bql.2_Missense_Mutation_p.E786K|GRM7_uc003bqn.1_Missense_Mutation_p.E369K|GRM7_uc010hch.1_Missense_Mutation_p.E297K NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 786 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GAATTTTAACGAAGCCAAGCC 0.433000 23 38 0 0 0.003755 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435178 18435178 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:18435178G>A uc001rdt.3 + 1 279 c.163G>A c.(163-165)Gag>Aag p.E55K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E55K|PIK3C2G_uc010sic.2_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 55 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TCCACACTACGAGAGTGAAAT 0.398000 38 12 0 0 0.001368 0 0 DDHD1 80821 broad.mit.edu 37 14 53525280 53525281 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:53525280_53525281GG>AA uc001xai.3 - 8 2136_2137 c.1906_1907CC>TT c.(1906-1908)cca>TTa p.P636L DDHD1_uc001xaj.3_Missense_Mutation_p.P643L|DDHD1_uc001xah.3_Missense_Mutation_p.P636L|DDHD1_uc001xag.3_Missense_Mutation_p.P218L|DDHD1_uc001xak.1_Missense_Mutation_p.P32L NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA. 636 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AGTATTTCCTGGGCGGATGCCA 0.381000 40 15 0 0 0.004672 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130219668 130219668 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:130219668C>T uc004evz.3 + 7 1407 c.1062C>T c.(1060-1062)atC>atT p.I354I ARHGAP36_uc004ewa.3_Silent_p.I342I|ARHGAP36_uc004ewb.3_Silent_p.I323I|ARHGAP36_uc004ewc.3_Silent_p.I218I NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 354 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGCATAAAATCACTGAGAACT 0.498000 222 75 0 0 0.003610 0 0 PRND 23627 broad.mit.edu 37 20 4705311 4705311 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:4705311G>A uc021waf.1 + 0 114 c.114G>A c.(112-114)aaG>aaA p.K38K PRND_uc002wkz.3_Silent_p.K38K NM_012409 NP_036541 Q9UKY0 PRND_HUMAN Homo sapiens prion protein 2 (dublet) (PRND), mRNA. 38 Flexible tail. protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GGAACCGGAAGGCCCTGCCCA 0.617000 18 37 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179495596 179495596 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:179495596C>T uc021vsy.1 - 186 36610 c.36385G>A c.(36385-36387)Gaa>Aaa p.E12129K MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13056 Ig-like 80. 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) TCAGAGATTTCGGTTTCAAAG 0.493000 85 35 0 0 0.003271 0 0 CCDC102B 79839 broad.mit.edu 37 18 66542000 66542000 + Missense_Mutation SNP T G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:66542000T>G uc002lkk.2 + 6 1254 c.1031T>G c.(1030-1032)gTg>gGg p.V344G CCDC102B_uc002lki.2_Missense_Mutation_p.V344G|CCDC102B_uc002lkj.1_Missense_Mutation_p.V344G NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 344 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAAGACAGAGTGATTTGTGAG 0.338000 16 27 0 0 0.001786 0 0 ASXL3 80816 broad.mit.edu 37 18 31326518 31326518 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:31326518G>A uc010dmg.1 + 11 6761 c.6706G>A c.(6706-6708)Ggt>Agt p.G2236S ASXL3_uc002kxq.2_Missense_Mutation_p.G1943S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 2236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CGACTGCATAGGTCCTTCAAA 0.478000 33 51 0 0 0.003610 0 0 TEP1 7011 broad.mit.edu 37 14 20856222 20856222 + Splice_Site SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:20856222C>G uc001vxe.3 - 18 2566 c.2526_splice c.e18-1 p.K842_splice TEP1_uc010ahk.3_Splice_Site_p.K192_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.K734_splice NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 842 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CTGCAATGAACCTGACATAAA 0.468000 16 18 0 0 0.007413 0 0 abParts 0 broad.mit.edu 37 14 106653536 106653536 + RNA SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:106653536C>T uc021ser.1 - 1432 c.28707G>A Parts of antibodies, mostly variable regions. ACTCCAGCCCCTTTCCTGGAG 0.557000 135 38 0 0 0.006999 0 0 PRIC285 85441 broad.mit.edu 37 20 62194214 62194214 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:62194214G>A uc002yfm.2 - 8 6853 c.5961C>T c.(5959-5961)ttC>ttT p.F1987F PRIC285_uc002yfl.1_Silent_p.F1418F NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 1987 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCTCCAGGCGGAAGGCGCCCT 0.677000 27 4 0 0 0.000248 0 0 S1PR3 1903 broad.mit.edu 37 9 91616371 91616371 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:91616371C>T uc022bjm.1 + 0 256 c.256C>T c.(256-258)Ctg>Ttg p.L86L S1PR3_uc004aqe.3_Silent_p.L86L NM_005226 NP_005217 Q99500 S1PR3_HUMAN Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA. 86 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 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 TCTCTGCGACCTGCTGGCCGG 0.493000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 74 0 0 0.003610 0 0 GLRB 2743 broad.mit.edu 37 4 158074155 158074155 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:158074155C>T uc003ipj.2 + 8 1392 c.1190C>T c.(1189-1191)aCt>aTt p.T397I GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.T397I NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 397 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CATATTAGCACTTTGCAGGTA 0.408000 8 7 0 0 0.001984 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713840 70713840 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:70713840C>T uc010ttg.2 - 0 679 c.28G>A c.(28-30)Gta>Ata p.V10I Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. TGGCGTGCTACTTCCTTCTCT 0.458000 41 17 0 0 0.004007 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235797 132235797 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:132235797G>A uc002tsu.4 + 1 257 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_080386 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA. 22 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) TGCCTGCTGGGAACTGTACTG 0.512000 70 65 0 0 0.003610 0 0 COL6A6 131873 broad.mit.edu 37 3 130300460 130300460 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:130300460G>A uc010htl.3 + 7 3634 c.3603G>A c.(3601-3603)caG>caA p.Q1201Q COL6A6_uc003eni.4_5'Flank NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1201 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGAAAGGGCAGACTTTGCTTG 0.463000 69 29 0 0 0.002445 0 0 KIF1C 10749 broad.mit.edu 37 17 4927149 4927149 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:4927149C>T uc002gan.2 + 22 3372 c.3015C>T c.(3013-3015)ccC>ccT p.P1005P NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 1005 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CGCTCCAACCCCCTGAGGAGG 0.687000 37 36 0 0 0.003271 0 0 ENTPD4 9583 broad.mit.edu 37 8 23294584 23294584 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:23294584G>A uc003xdl.3 - 9 1509 c.1237C>T c.(1237-1239)Ctc>Ttc p.L413F ENTPD4_uc011kzu.1_Missense_Mutation_p.L405F|ENTPD4_uc003xdm.3_Missense_Mutation_p.L405F|ENTPD4_uc011kzv.1_Missense_Mutation_p.L413F NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA. 413 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) ACCCCATTGAGGGAAGTCTGG 0.478000 56 50 0 0 0.003610 0 0 FAT3 120114 broad.mit.edu 37 11 92564905 92564905 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:92564905C>T uc001pdj.4 + 12 9616 c.9599C>T c.(9598-9600)tCg>tTg p.S3200L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3200 Cadherin 29. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGCAGTCTTCGTACAACATC 0.562000 TCGA Ovarian(4;0.039) 320 21 0 0 0.002780 0 0 KLHL4 56062 broad.mit.edu 37 X 86873070 86873070 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:86873070G>A uc004efa.2 + 3 1045 c.863G>A c.(862-864)cGa>cAa p.R288Q KLHL4_uc004efb.2_Missense_Mutation_p.R288Q NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 288 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TTAGGGATTCGATCATTTGGA 0.418000 44 12 0 0 0.002450 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072167 34072167 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:34072167C>T uc002hjv.2 - 5 2377 c.2349G>A c.(2347-2349)cgG>cgA p.R783R NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 783 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGTGGTCTCTCCGGGGCCGAA 0.612000 149 46 0 0 0.003610 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315749 30315749 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:30315749G>A uc009xle.2 - 2 3465 c.3328C>T c.(3328-3330)Cag>Tag p.Q1110* KIAA1462_uc001iux.3_Nonsense_Mutation_p.Q1110*|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Nonsense_Mutation_p.Q972* NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1110 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCAGCAGGCTGGTTCTGTCCC 0.657000 20 62 0 0 0.003610 0 0 C1RL 51279 broad.mit.edu 37 12 7254617 7254617 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:7254617G>A uc001qsn.3 - 2 460 c.367C>T c.(367-369)Cct>Tct p.P123S C1RL_uc009zft.3_Missense_Mutation_p.P123S|C1RL_uc001qso.2_Missense_Mutation_p.P123S NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA. 123 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTCTGACCAGGGGGCCTGCCC 0.592000 122 53 0 0 0.003610 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130776 117130776 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:117130776C>T uc003pxj.1 - 1 221 c.199G>A c.(199-201)Gaa>Aaa p.E67K GPRC6A_uc003pxk.1_Missense_Mutation_p.E67K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E67K NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 67 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACTGATATTTCAAAGCTGTTG 0.363000 9 25 0 0 0.004656 0 0 MAP1B 4131 broad.mit.edu 37 5 71494859 71494859 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:71494859G>A uc003kbw.4 + 4 5918 c.5677G>A c.(5677-5679)Gag>Aag p.E1893K MAP1B_uc010iyw.1_Missense_Mutation_p.E1910K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1767K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1767K NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 1893 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TGAGTCTTATGAGAAGACCAC 0.463000 62 19 0 0 0.008871 0 0 SP140 11262 broad.mit.edu 37 2 231134668 231134668 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:231134668G>A uc002vql.3 + 14 1559 c.1444_splice c.e14+1 p.D482_splice SP140_uc010zma.1_Splice_Site|SP140_uc002vqn.3_Splice_Site_p.D368_splice|SP140_uc002vqm.3_Splice_Site_p.D422_splice|SP140_uc010fxl.3_Splice_Site_p.D455_splice NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 482 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) TGGCACAATGGGTAAGGCTGT 0.542000 34 13 0 0 0.003163 0 0 IFIH1 64135 broad.mit.edu 37 2 163134154 163134154 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:163134154C>T uc002uce.3 - 9 2037 c.1815G>A c.(1813-1815)agG>agA p.R605R NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 605 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CATTGTACTTCCTCAAATGTT 0.328000 62 22 0 0 0.001882 0 0 CHMP2B 25978 broad.mit.edu 37 3 87294927 87294927 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:87294927C>T uc003dqp.4 + 2 450 c.190C>T c.(190-192)Caa>Taa p.Q64* CHMP2B_uc011bgn.2_Nonsense_Mutation_p.Q23* NM_014043 NP_054762 Q9UQN3 CHM2B_HUMAN Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA. 64 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane|mitochondrion|nucleus protein domain specific binding p.Q64Q(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TTTAGCCAAACAACTTGTGCA 0.313000 30 28 0 0 0.005443 0 0 ANK3 288 broad.mit.edu 37 10 61835611 61835611 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:61835611C>T uc001jky.3 - 36 5366 c.5028G>A c.(5026-5028)aaG>aaA p.K1676K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1676 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACACCACTGACTTTAAAGGTG 0.413000 14 42 0 0 0.003610 0 0 RASAL2 9462 broad.mit.edu 37 1 178411966 178411966 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:178411966G>A uc001glq.3 + 7 1848 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K RASAL2_uc001glr.3_Missense_Mutation_p.E214K NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 214 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TTTCTGGGGCGAACATTTTGA 0.383000 81 23 0 0 0.003330 0 0 KNDC1 85442 broad.mit.edu 37 10 134981777 134981777 + Silent SNP C T T rs79557483 byFrequency TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:134981777C>T uc001llz.1 + 2 322 c.321C>T c.(319-321)ttC>ttT p.F107F KNDC1_uc001lma.1_Silent_p.F42F NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 107 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGGGTGCCTTCGTTCCCCCCG 0.597000 27 71 0 0 0.003610 0 0 BAHCC1 57597 broad.mit.edu 37 17 79429066 79429066 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:79429066C>T uc002kaf.2 + 24 7191 c.7191C>T c.(7189-7191)ccC>ccT p.P2397P BAHCC1_uc002kae.2_Silent_p.P1689P NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA. 2459 DNA binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1) 26 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CGGGGAATCCCACACAGGTAG 0.662000 24 15 0 0 0.004007 0 0 BRD4 23476 broad.mit.edu 37 19 15350537 15350537 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:15350537G>A uc002nar.3 - 15 3600 c.3378C>T c.(3376-3378)agC>agT p.S1126S NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 1126 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCAGCGAGGGGCTGAAGGGCT 0.697000 T C15orf55 lethal midline carcinoma of young people 54 19 0 0 0.007413 0 0 POTEG 404785 broad.mit.edu 37 14 19553567 19553567 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:19553567G>A uc001vuz.1 + 0 203 c.151G>A c.(151-153)Gat>Aat p.D51N POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 51 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGACCACGACGATTCTGCTAT 0.602000 506 36 0 0 0.003610 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794749 124794749 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:124794749A>T uc001qbk.3 - 1 708 c.302T>A c.(301-303)cTc>cAc p.L101H HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.L101H NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 101 Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane p.R100Q(1)|p.R100*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) ATTTTCAAAGAGTCGGATACG 0.592000 86 7 0 0 0.001984 0 0 FBN1 2200 broad.mit.edu 37 15 48807600 48807600 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:48807600G>A uc001zwx.2 - 11 1847 c.1452C>T c.(1450-1452)ctC>ctT p.L484L NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 484 EGF-like 6. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACTCCCCACGGAGGTCCAGCT 0.502000 21 43 0 0 0.003610 0 0 LARS2 23395 broad.mit.edu 37 3 45537800 45537800 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:45537800G>A uc003cop.1 + 13 1742 c.1557G>A c.(1555-1557)acG>acA p.T519T LARS2_uc010hit.1_Silent_p.T476T NM_015340 NP_056155 Q15031 SYLM_HUMAN Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA. 519 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) AGACAGACACGATGGATACCT 0.393000 137 39 0 0 0.004878 0 0 GLI4 2738 broad.mit.edu 37 8 144358717 144358717 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:144358717G>A uc003yxx.3 + 3 959 c.874G>A c.(874-876)Gag>Aag p.E292K ZFP41_uc003yxv.3_Non-coding_Transcript NM_138465 NP_612474 P10075 GLI4_HUMAN Homo sapiens GLI family zinc finger 4 (GLI4), mRNA. 292 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCACACGGGTGAGAAGCCCTA 0.657000 8 8 0 0 0.003080 0 0 CDADC1 81602 broad.mit.edu 37 13 49860415 49860415 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:49860415G>A uc001vcu.3 + 8 1595 c.1468G>A c.(1468-1470)Gaa>Aaa p.E490K CDADC1_uc021rjm.1_Missense_Mutation_p.E490K|CDADC1_uc010tgk.2_Missense_Mutation_p.E292K|CDADC1_uc001vcv.3_Non-coding_Transcript NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA. 490 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) TGAAAGGAGAGAAAGTAAGTA 0.353000 34 33 0 0 0.004878 0 0 APBA3 9546 broad.mit.edu 37 19 3759875 3759875 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:3759875C>T uc002lyp.1 - 1 565 c.388G>A c.(388-390)Gag>Aag p.E130K MRPL54_uc002lyq.4_5'Flank NM_004886 NP_004877 O96018 APBA3_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA. 130 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) TCTAGAGGCTCTTCAGGACCA 0.647000 79 22 0 0 0.003954 0 0 PC 5091 broad.mit.edu 37 11 66638662 66638662 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:66638662G>A uc001ojn.1 - 4 543 c.494C>T c.(493-495)cCc>cTc p.P165L PC_uc001ojo.1_Missense_Mutation_p.P165L|PC_uc001ojp.1_Missense_Mutation_p.P165L NM_022172 NP_071504 P11498 PYC_HUMAN Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 165 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) AGGGACAACGGGAACACCTGT 0.632000 16 35 0 0 0.003271 0 0 SUN1 23353 broad.mit.edu 37 7 881763 881763 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:881763C>T uc021zym.1 + 2 467 c.447C>T c.(445-447)ttC>ttT p.F149F SUN1_uc021zyl.1_Silent_p.F149F|SUN1_uc010ksa.1_Silent_p.F170F|SUN1_uc003sje.1_Silent_p.F149F|SUN1_uc011jvq.2_Silent_p.F149F|SUN1_uc003sjf.3_Silent_p.F99F|SUN1_uc003sjg.3_5'Flank NM_001130965 NP_001124437 O94901 SUN1_HUMAN Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA. 149 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear inner membrane protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGGACCACTTCTGGGGTGAGT 0.587000 15 23 0 0 0.004656 0 0 OR2F1 26211 broad.mit.edu 37 7 143657601 143657601 + Missense_Mutation SNP G A A rs112027056 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:143657601G>A uc003wds.1 + 0 582 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CATATCCTGTGAACTCCTAGC 0.502000 28 42 0 0 0.007835 0 0 NIN 51199 broad.mit.edu 37 14 51227046 51227046 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:51227046G>A uc001wyi.3 - 16 2119 c.1928C>T c.(1927-1929)aCc>aTc p.T643I NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.T643I|NIN_uc001wyk.3_Missense_Mutation_p.T643I|NIN_uc001wyo.3_Missense_Mutation_p.T643I NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 643 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GCTGACCACGGTTTCGTCCAG 0.453000 T PDGFRB MPD 54 22 0 0 0.002299 0 0 SRCIN1 80725 broad.mit.edu 37 17 36720422 36720422 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:36720422C>T uc002hqd.3 - 3 698 c.473G>A c.(472-474)aGg>aAg p.R158K SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_Missense_Mutation_p.R12K|SRCIN1_uc002hqh.1_Missense_Mutation_p.R218K NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 0 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GCGGTTCATCCTGCTGAAGCC 0.701000 7 3 0 0 0.004672 0 0 ANKRD17 26057 broad.mit.edu 37 4 73962883 73962883 + Missense_Mutation SNP G C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:73962883G>C uc003hgp.3 - 26 5245 c.5128C>G c.(5128-5130)Cct>Gct p.P1710A ANKRD17_uc003hgo.3_Missense_Mutation_p.P1597A|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1459A|ANKRD17_uc003hgr.3_Missense_Mutation_p.P1709A NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 1710 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCACGCTTAGGACTTGCTACT 0.388000 97 38 0 0 0.002222 0 0 TRHR 7201 broad.mit.edu 37 8 110131468 110131468 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:110131468C>T uc003ymz.4 + 1 1070 c.981C>T c.(979-981)ttC>ttT p.F327F NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 327 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCCAGAAATTCCGTGCAGCCT 0.443000 98 36 0 0 0.003755 0 0 DDX51 317781 broad.mit.edu 37 12 132626121 132626121 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:132626121G>A uc001ujy.4 - 6 1065 c.1026C>T c.(1024-1026)atC>atT p.I342I NOC4L_uc001ujz.1_5'Flank NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA. 342 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) TGGCTACCACGATGTCAGCCA 0.637000 28 28 0 0 0.003271 0 0 SV2C 22987 broad.mit.edu 37 5 75591654 75591654 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:75591654C>T uc003kei.1 + 8 1523 c.1389C>T c.(1387-1389)tcC>tcT p.S463S NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 463 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CTCTGCAGTCCGATGAATATG 0.373000 56 68 0 0 0.003610 0 0 NWD1 284434 broad.mit.edu 37 19 16899909 16899909 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:16899909G>A uc002neu.4 + 12 3270 c.2848G>A c.(2848-2850)Gat>Aat p.D950N NWD1_uc002net.4_Missense_Mutation_p.D815N|NWD1_uc002nev.4_Missense_Mutation_p.D744N|NWD1_uc021uqg.1_Missense_Mutation_p.D815N NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 950 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TACCATTTGGGATGGAGGCTC 0.458000 51 26 0 0 0.003330 0 0 PCLO 27445 broad.mit.edu 37 7 82580169 82580169 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:82580169G>A uc003uhx.2 - 5 10024 c.9735C>T c.(9733-9735)ttC>ttT p.F3245F PCLO_uc003uhv.2_Silent_p.F3245F|PCLO_uc010lec.3_Silent_p.F210F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3176 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTGTTCTCGGAACCTTTGAA 0.473000 43 67 0 0 0.003610 0 0 FREM2 341640 broad.mit.edu 37 13 39262547 39262547 + Missense_Mutation SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:39262547A>G uc001uwv.3 + 0 1375 c.1066A>G c.(1066-1068)Atc>Gtc p.I356V NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 356 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding 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) TGACCTGTTGATCTTCAACCT 0.577000 61 26 0 0 0.003330 0 0 KDM5C 8242 broad.mit.edu 37 X 53240720 53240720 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:53240720G>A uc004drz.3 - 9 1893 c.1360C>T c.(1360-1362)Cct>Tct p.P454S KDM5C_uc022bxe.1_Missense_Mutation_p.P387S|KDM5C_uc004dsa.3_Missense_Mutation_p.P453S NM_004187 NP_004178 P41229 KDM5C_HUMAN Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA. 454 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 TCACTGACAGGGAAACCGCTG 0.473000 """N, F, S""" clear cell renal carcinoma 37 16 0 0 0.006122 0 0 CCDC150 284992 broad.mit.edu 37 2 197521390 197521390 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:197521390C>T uc002utp.1 + 2 345 c.210C>T c.(208-210)gaC>gaT p.D70D CCDC150_uc002uto.1_Silent_p.D70D|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA. 70 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GTTTAGAAGACCTGGACAGCC 0.368000 16 10 0 0 0.008291 0 0 WASL 8976 broad.mit.edu 37 7 123334878 123334878 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:123334878A>G uc003vkz.3 - 7 1045 c.717T>C c.(715-717)tgT>tgC p.C239C NM_003941 NP_003932 O00401 WASL_HUMAN Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA. 239 actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGAGATTCCACACATATCGA 0.299000 158 40 0 0 0.002522 0 0 CSMD1 64478 broad.mit.edu 37 8 3245065 3245065 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:3245065G>A uc022aqr.1 - 17 3123 c.2733C>T c.(2731-2733)ctC>ctT p.L911L CSMD1_uc011kwj.2_Silent_p.L304L|CSMD1_uc003wqe.3_Silent_p.L68L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 912 Sushi 5. integral to membrane 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) TCTCACAGACGAGGGGCTCGT 0.602000 4 10 0 0 0.006214 0 0 DRD2 1813 broad.mit.edu 37 11 113286293 113286293 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:113286293G>A uc001pnz.3 - 3 894 c.573C>T c.(571-573)gtC>gtT p.V191V DRD2_uc010rwv.2_Silent_p.V190V|DRD2_uc001poa.4_Silent_p.V191V|DRD2_uc001pob.4_Silent_p.V191V|DRD2_uc009yyr.1_Silent_p.V191V NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 191 Agonist binding (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TGGAGGAGTAGACCACGAAGG 0.597000 18 8 0 0 0.003080 0 0 UTP6 55813 broad.mit.edu 37 17 30222019 30222019 + Missense_Mutation SNP A C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:30222019A>C uc002hgr.3 - 2 272 c.189T>G c.(187-189)aaT>aaG p.N63K UTP6_uc010wbw.1_Missense_Mutation_p.N63K NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA. 63 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) GCTCCAAAAGATTAATTTCAT 0.289000 19 10 0 0 0.001855 0 0 NR1D2 9975 broad.mit.edu 37 3 24001236 24001236 + Missense_Mutation SNP G T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:24001236G>T uc003ccs.2 + 3 766 c.447G>T c.(445-447)atG>atT p.M149I NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.M74I NM_005126 NP_001138897 Q14995 NR1D2_HUMAN Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA. 149 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 GTTCTATAATGAGAATGAATA 0.368000 61 21 1.15919e-05 1.91767e-05 0.008871 1 0 CXorf41 139212 broad.mit.edu 37 X 106466000 106466001 + Missense_Mutation DNP GT AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:106466000_106466001GT>AA uc004end.3 + 5 695_696 c.358_359GT>AA c.(358-360)gtg>AAg p.V120K CXorf41_uc004enc.3_Missense_Mutation_p.V120K NM_001169154 NP_775765 Q9NQM4 CX041_HUMAN Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA. 120 haematopoietic_and_lymphoid_tissue(1)|lung(5) 6 CAGACAGCAGGTGGGAACTGAA 0.376000 108 25 0 0 0.004672 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045730 26045730 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:26045730C>T uc003nfv.3 + 0 92 c.92C>T c.(91-93)cCg>cTg p.P31L HIST1H2BB_uc003nfu.3_5'Flank NM_003531 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA. 31 S phase|blood coagulation|nucleosome assembly|regulation of gene silencing nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AAGAGCGCTCCGGCCACCGGT 0.612000 44 31 0 0 0.008361 0 0 MAN2B2 23324 broad.mit.edu 37 4 6612845 6612845 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:6612845C>T uc003gjf.1 + 14 2439 c.2403C>T c.(2401-2403)ttC>ttT p.F801F MAN2B2_uc003gje.1_Silent_p.F801F|MAN2B2_uc011bwf.1_Silent_p.F750F NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA. 801 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GGAACAACTTCGACTGGGACC 0.657000 19 11 0 0 0.008291 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69327576 69327576 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:69327576G>A uc003hdz.4 + 1 113 c.49G>A c.(49-51)Gaa>Aaa p.E17K NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 17 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 AGTTTGTTGGGAACCCTGGGT 0.418000 155 103 0 0 0.003610 0 0 C5orf48 389320 broad.mit.edu 37 5 125968322 125968322 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:125968322G>A uc003kub.1 + 1 184 c.171G>A c.(169-171)atG>atA p.M57I NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA. 57 large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 7 AAGAAAACATGATATTCAGGA 0.378000 20 6 0 0 0.001168 0 0 TTC7A 57217 broad.mit.edu 37 2 47249053 47249053 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:47249053C>T uc010fbb.3 + 11 1813 c.1445C>T c.(1444-1446)gCc>gTc p.A482V TTC7A_uc002rvm.3_Missense_Mutation_p.A448V|TTC7A_uc002rvn.1_Missense_Mutation_p.A363V|TTC7A_uc002rvo.3_Missense_Mutation_p.A482V|TTC7A_uc010fbc.3_Missense_Mutation_p.A128V|TTC7A_uc002rvp.3_Missense_Mutation_p.A363V|TTC7A_uc002rvq.3_Missense_Mutation_p.A222V|TTC7A_uc002rvr.3_Intron NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 482 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GGAGAGGAAGCCGGGGAGTTC 0.607000 47 45 0 0 0.002852 0 0 DSG4 147409 broad.mit.edu 37 18 28989470 28989470 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:28989470G>A uc002kwr.2 + 12 2124 c.1989G>A c.(1987-1989)ctG>ctA p.L663L DSG4_uc002kwq.2_Silent_p.L663L NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 663 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGAAGGCCTGGGAACAAGAT 0.542000 90 40 0 0 0.006230 0 0 FGFR2 2263 broad.mit.edu 37 10 123276957 123276957 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:123276957C>T uc021pzz.1 - 7 1607 c.960G>A c.(958-960)acG>acA p.T320T FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Silent_p.T205T|FGFR2_uc021pzx.1_Silent_p.T231T|FGFR2_uc021pzy.1_Intron|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Silent_p.T205T|FGFR2_uc021qaa.1_Intron|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.T339T|FGFR2_uc010qto.2_Silent_p.T224T|FGFR2_uc001lfo.1_3'UTR|FGFR2_uc001lfg.4_5'UTR NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 320 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TCTCTTTGTCCGTGGTGTTAA 0.478000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 8 21 0 0 0.001882 0 0 CASP1 834 broad.mit.edu 37 11 104971399 104971399 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:104971399C>T uc001pir.1 - 1 132 c.115G>A c.(115-117)Gag>Aag p.E39K CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron NM_001007232 NP_001007233 P29466 CASP1_HUMAN Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA. 39 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) ATCTCTATCTCTTCCTGGCTC 0.448000 100 8 0 0 0.003080 0 0 C2orf44 80304 broad.mit.edu 37 2 24260573 24260573 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:24260573G>A uc002rep.2 - 1 1923 c.1792C>T c.(1792-1794)Ctt>Ttt p.L598F C2orf44_uc010eya.2_Missense_Mutation_p.L598F NM_025203 NP_079479 Q9H6R7 CB044_HUMAN Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA. 598 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACATAAGGAAGATCTTGAGAG 0.413000 T ALK NSCLC 74 23 0 0 0.002780 0 0 HYDIN 54768 broad.mit.edu 37 16 71015463 71015463 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:71015463G>A uc002ezr.3 - 28 4489 c.4338C>T c.(4336-4338)atC>atT p.I1446I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1447 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) GATGTGAACTGATAAAGCCCT 0.413000 106 26 0 0 0.008361 0 0 MMP15 4324 broad.mit.edu 37 16 58074457 58074457 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:58074457G>A uc002ena.3 + 4 1738 c.765G>A c.(763-765)ctG>ctA p.L255L NM_002428 NP_002419 P51511 MMP15_HUMAN Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA. 255 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 ACCTCTTCCTGGTGGCAGTGC 0.612000 41 26 0 0 0.006320 0 0 GCLC 2729 broad.mit.edu 37 6 53370239 53370239 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:53370239G>A uc003pbw.2 - 11 1830 c.1346C>T c.(1345-1347)aCc>aTc p.T449I GCLC_uc003pbv.1_Missense_Mutation_p.T173I|GCLC_uc021zau.1_Missense_Mutation_p.T411I NM_001498 NP_001489 P48506 GSH1_HUMAN Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA. 449 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) GATCACTCTGGTGAGCAGTAC 0.393000 12 11 0 0 0.001855 0 0 PRRT2 112476 broad.mit.edu 37 16 29825857 29825857 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:29825857C>T uc002dud.2 + 2 1384 c.1083C>T c.(1081-1083)gcC>gcT p.A361A BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Intron|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.4_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA. 76 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 TAACCCCTGcccctgctctct 0.587000 22 9 0 0 0.004482 0 0 ZBED1 9189 broad.mit.edu 37 X 2406965 2406965 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:2406965G>A uc022brx.1 - 0 1796 c.1796C>T c.(1795-1797)cCc>cTc p.P599L DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P599L|ZBED1_uc004cqg.2_Missense_Mutation_p.P599L|ZBED1_uc022brw.1_Missense_Mutation_p.P599L NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 599 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 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) GGGCAGCAGGGGGAAGAGGGC 0.652000 141 50 0 0 0.003610 0 0 COL2A1 1280 broad.mit.edu 37 12 48376722 48376722 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:48376722C>T uc001rqu.3 - 32 2283 c.2102G>A c.(2101-2103)cGa>cAa p.R701Q COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.R632Q NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 701 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.D700D(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TGGGAAACCTCGTTCACCCTG 0.622000 28 24 0 0 0.003330 0 0 RSF1 51773 broad.mit.edu 37 11 77383160 77383160 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:77383160G>A uc001oyn.3 - 14 3798 c.3678C>T c.(3676-3678)tcC>tcT p.S1226S RSF1_uc001oym.3_Silent_p.S974S NM_016578 NP_057662 Q96T23 RSF1_HUMAN Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA. 1226 Arg-rich. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding p.G1225C(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) AACTCTTCTGGGAACCGTCAC 0.413000 158 12 0 0 0.001855 0 0 OR4N5 390437 broad.mit.edu 37 14 20612005 20612005 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:20612005C>T uc010tla.2 + 0 111 c.111C>T c.(109-111)atC>atT p.I37I NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCTACCTTATCATCCTCCCTG 0.453000 112 99 0 0 0.003610 0 0 DHX16 8449 broad.mit.edu 37 6 30627338 30627338 + Missense_Mutation SNP G A A rs143108219 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:30627338G>A uc003nqz.3 - 11 2130 c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W DHX16_uc003nqy.3_Missense_Mutation_p.R159W|DHX16_uc011dmo.2_Missense_Mutation_p.R580W NM_003587 NP_003578 O60231 DHX16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA. 640 Helicase C-terminal. RNA splicing|mRNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding kidney(2)|ovary(2) 4 AGGAGCTCCCGGATTTTGGAG 0.612000 22 13 0 0 0.001368 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101583122 101583122 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:101583122C>T uc003knm.3 - 9 1932 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 549 Kazal-like. cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GTTTTCCTTTCAATACAGGAA 0.299000 102 34 0 0 0.004878 0 0 AASDH 132949 broad.mit.edu 37 4 57209809 57209809 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:57209809G>A uc003hbn.3 - 12 2847 c.2694C>T c.(2692-2694)gtC>gtT p.V898V AASDH_uc010ihb.3_Silent_p.V413V|AASDH_uc003hbo.3_Silent_p.V798V|AASDH_uc011caa.2_Missense_Mutation_p.L691F|AASDH_uc011cab.2_Silent_p.V413V|AASDH_uc010ihc.3_Intron NM_181806 NP_861522 Q4L235 ACSF4_HUMAN Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA. 898 fatty acid metabolic process ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding p.V898F(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GAGAGGAAAAGACAGTTCCTC 0.348000 13 8 0 0 0.006214 0 0 GLI3 2737 broad.mit.edu 37 7 42088243 42088243 + Missense_Mutation SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:42088243T>C uc011kbh.2 - 4 617 c.526A>G c.(526-528)Atc>Gtc p.I176V GLI3_uc011kbg.2_Missense_Mutation_p.I117V NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 176 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TGTGGGGAGATCCTAATGAAG 0.512000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 56 20 0 0 0.007413 0 0 LSM6 11157 broad.mit.edu 37 4 147108513 147108513 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:147108513G>A uc003ikq.4 + 2 321 c.182G>A c.(181-183)gGg>gAg p.G61E LSM6_uc003ikp.4_Non-coding_Transcript NM_007080 NP_009011 P62312 LSM6_HUMAN Homo sapiens LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM6), mRNA. 61 RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|rRNA processing|tRNA processing cytosol|small nuclear ribonucleoprotein complex RNA binding|protein binding all_hematologic(180;0.151) AATAAGTATGGGGATGCATTT 0.413000 22 8 0 0 0.003080 0 0 C2orf16 84226 broad.mit.edu 37 2 27802108 27802109 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:27802108_27802109CC>TT uc002rkz.4 + 0 2720_2721 c.2669_2670CC>TT c.(2668-2670)tcc>tTT p.S890F NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 890 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AAATATCTCTCCACTATGCTAA 0.460000 94 35 0 0 0.004672 0 0 GAA 2548 broad.mit.edu 37 17 78090819 78090819 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:78090819G>A uc002jxp.3 + 15 2609 c.2242G>A c.(2242-2244)Gag>Aag p.E748K GAA_uc002jxo.3_Missense_Mutation_p.E748K|GAA_uc002jxq.3_Missense_Mutation_p.E748K NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 748 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCTGTGGGGGGAGGCCCTGCT 0.632000 50 11 0 0 0.001368 0 0 MYH14 79784 broad.mit.edu 37 19 50775127 50775127 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:50775127C>T uc010enu.1 + 25 3240 c.3193C>T c.(3193-3195)Cgt>Tgt p.R1065C MYH14_uc002prq.1_Missense_Mutation_p.R1032C|MYH14_uc002prr.1_Missense_Mutation_p.R1024C NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1024 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCTGGAAGATCGTCTGGCCGA 0.582000 17 4 0 0 0.000602 0 0 EIF2C1 26523 broad.mit.edu 37 1 36367133 36367133 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:36367133C>T uc001bzl.3 + 8 1292 c.1079C>T c.(1078-1080)tCg>tTg p.S360L EIF2C1_uc001bzk.3_Missense_Mutation_p.S285L|EIF2C1_uc009vuy.3_Intron NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 360 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AACCAGACCTCGACCATGATA 0.527000 50 24 0 0 0.002299 0 0 HIPK1 204851 broad.mit.edu 37 1 114483987 114483987 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:114483987C>T uc001eem.3 + 1 1143 c.982C>T c.(982-984)Cgc>Tgc p.R328C HIPK1_uc001eel.3_Missense_Mutation_p.R328C|HIPK1_uc001een.3_Missense_Mutation_p.R328C NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 328 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGATCCAGTTCGCCAGCCCTA 0.493000 214 48 0 0 0.003610 0 0 TMEM184B 25829 broad.mit.edu 37 22 38622800 38622800 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr22:38622800C>T uc003avf.1 - 5 827 c.603G>A c.(601-603)cgG>cgA p.R201R TMEM184B_uc003avh.2_Silent_p.R135R|TMEM184B_uc003avg.2_Silent_p.R201R|TMEM184B_uc010gxl.2_Intron|TMEM184B_uc021wpo.1_5'Flank NM_001195071 NP_001182001 Q9Y519 T184B_HUMAN Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA. 201 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) AGTCCCCATCCCGGTACTTGC 0.637000 3 14 0 0 0.002450 0 0 RCC1 1104 broad.mit.edu 37 1 28858821 28858821 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:28858821C>T uc001bqb.2 + 6 799 c.400C>T c.(400-402)Ctc>Ttc p.L134F RCC1_uc001bqa.2_Missense_Mutation_p.L134F|RCC1_uc001bqc.2_Missense_Mutation_p.L134F|RCC1_uc001bqe.2_Missense_Mutation_p.L151F|RCC1_uc001bqf.2_Missense_Mutation_p.L165F|RCC1_uc001bqg.2_Missense_Mutation_p.L134F NM_001269 NP_001260 P18754 RCC1_HUMAN Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA. 134 G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) CACAGCAGCCCTCACCGATGA 0.577000 32 10 0 0 0.008291 0 0 SRCAP 10847 broad.mit.edu 37 16 30740755 30740755 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:30740755C>T uc002dze.1 + 26 6374 c.5989C>T c.(5989-5991)Cct>Tct p.P1997S SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1792S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1997 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCACCCACCTCCTTGGCTGGC 0.592000 40 33 0 0 0.001786 0 0 TMEM14B 81853 broad.mit.edu 37 6 10751440 10751440 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:10751440G>A uc003mzk.4 + 3 339 c.175G>A c.(175-177)Gat>Aat p.D59N SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.3_Intron|TMEM14B_uc010jos.1_Intron NM_030969 NP_112231 Q9NUH8 TM14B_HUMAN Homo sapiens transmembrane protein 14B (TMEM14B), transcript variant 1, mRNA. 59 integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) GCTGTATCAGGATCCAAGGAA 0.537000 73 61 0 0 0.003610 0 0 FUT7 2529 broad.mit.edu 37 9 139925179 139925179 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:139925179C>T uc004ckq.2 - 1 1861 c.1012G>A c.(1012-1014)Ggt>Agt p.G338S ABCA2_uc022bpy.1_5'Flank|ABCA2_uc022bpz.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron NM_004479 NP_004470 Q11130 FUT7_HUMAN Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA. 338 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.E337Q(1) NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TGAAACCAACCCTCAAGGTCC 0.627000 31 16 0 0 0.008871 0 0 SERTM1 400120 broad.mit.edu 37 13 37269359 37269359 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:37269359C>T uc001uvt.4 + 1 590 c.144C>T c.(142-144)ttC>ttT p.F48F SERTM1_uc021rii.1_Silent_p.F48F NM_203451 NP_982276 A2A2V5 CM036_HUMAN Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA. 48 integral to membrane TGTCCATATTCCTCAGCCTTT 0.478000 96 92 0 0 0.003610 0 0 EEF1G 1937 broad.mit.edu 37 11 62327658 62327658 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:62327658G>A uc001ntm.1 - 8 1184 c.1038C>T c.(1036-1038)ttC>ttT p.F346F EEF1G_uc010rlw.1_Silent_p.F396F NM_001404 NP_001395 P26641 EF1G_HUMAN Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA. 346 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCAGTCGCTGGAACATTCCTG 0.512000 26 8 0 0 0.004482 0 0 MSRA 4482 broad.mit.edu 37 8 10285790 10285791 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:10285790_10285791GG>AA uc003wsx.3 + 5 873_874 c.676_677GG>AA c.(676-678)ggc>AAc p.G226N MSRA_uc011kwx.2_Missense_Mutation_p.G186N|MSRA_uc003wsy.3_Missense_Mutation_p.G160N|MSRA_uc003wsz.3_Missense_Mutation_p.G183N NM_012331 NP_001186658 Q9UJ68 MSRA_HUMAN Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA. 226 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) TGGGGGCACCGGCGTGTCCTGC 0.515000 30 34 0 0 0.004672 0 0 FOXN1 8456 broad.mit.edu 37 17 26861510 26861510 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:26861510G>A uc010crm.3 + 6 1287 c.1089G>A c.(1087-1089)tgG>tgA p.W363* FOXN1_uc002hbj.3_Nonsense_Mutation_p.W363* NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 363 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex 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 activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) TGCAAAAATGGAAGAGGAAAG 0.567000 36 12 0 0 0.001368 0 0 CENPE 1062 broad.mit.edu 37 4 104079935 104079935 + Missense_Mutation SNP G T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:104079935G>T uc003hxb.1 - 22 2800 c.2710C>A c.(2710-2712)Caa>Aaa p.Q904K CENPE_uc003hxc.1_Missense_Mutation_p.Q879K NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 904 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCTACAGTTTGCAGCGTAGAA 0.358000 24 18 6.94344e-10 1.15401e-09 0.006122 1 0 CPA1 1357 broad.mit.edu 37 7 130025088 130025088 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:130025088G>A uc003vpx.3 + 7 961 c.889G>A c.(889-891)Ggg>Agg p.G297R CPA1_uc003vpw.2_Missense_Mutation_p.G131R NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 297 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) GAAGGACCATGGGAACATCAA 0.527000 52 19 0 0 0.007413 0 0 CSMD2 114784 broad.mit.edu 37 1 34037281 34037281 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:34037281C>T uc001bxm.1 - 50 7985 c.7808G>A c.(7807-7809)cGa>cAa p.R2603Q CSMD2_uc001bxn.1_Missense_Mutation_p.R2605Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2605 Sushi 16. integral to membrane|plasma membrane protein binding 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) AAGCCTCCATCGGCCATGCTC 0.483000 33 27 0 0 0.008361 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254232 161254232 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:161254232C>T uc001gad.3 + 2 416 c.168C>T c.(166-168)ttC>ttT p.F56F NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA. 56 IQ. endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGGGCAAGTTCCGGCGATTTC 0.527000 25 57 0 0 0.003610 0 0 RBM12 10137 broad.mit.edu 37 20 34241641 34241641 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:34241641G>A uc021wcr.1 - 0 1604 c.1604C>T c.(1603-1605)cCa>cTa p.P535L CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P535L|RBM12_uc002xds.3_Missense_Mutation_p.P535L|RBM12_uc002xdr.3_Missense_Mutation_p.P535L|RBM12_uc021wcq.1_Missense_Mutation_p.P535L NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 535 nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ATCCCCCTCTGGATTTAGTAT 0.393000 197 62 0 0 0.003610 0 0 HMCN1 83872 broad.mit.edu 37 1 186088327 186088327 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:186088327A>G uc001grq.1 + 77 12082 c.11853A>G c.(11851-11853)gcA>gcG p.A3951A MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3951 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding p.A3951V(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTTAGGAGCAATTGAAATAC 0.368000 103 30 0 0 0.007291 0 0 OR10X1 128367 broad.mit.edu 37 1 158548760 158548760 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:158548760C>T uc010pin.2 - 0 930 c.930G>A c.(928-930)atG>atA p.M310I NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M310I(2) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AAGCATTTTTCATGTCCTTAT 0.438000 101 68 0 0 0.003610 0 0 SRPK1 6732 broad.mit.edu 37 6 35838101 35838101 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:35838101G>A uc003olj.3 - 9 1072 c.948C>T c.(946-948)ccC>ccT p.P316P SRPK1_uc003olh.3_Silent_p.P209P|SRPK1_uc003oli.3_Silent_p.P209P|SRPK1_uc011dtg.2_Silent_p.P300P NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA. 316 Protein kinase. RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 TCTCTTTCAAGGGTCTTTCAA 0.383000 22 15 0 0 0.007413 0 0 PPEF1 5475 broad.mit.edu 37 X 18836172 18836172 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:18836172A>T uc004cyq.3 + 15 1891 c.1410A>T c.(1408-1410)gaA>gaT p.E470D PPEF1_uc004cyp.3_Missense_Mutation_p.E442D|PPEF1_uc004cyr.3_Missense_Mutation_p.E408D|PPEF1_uc004cys.3_Missense_Mutation_p.E470D|PPEF1_uc011mja.2_Missense_Mutation_p.E405D|PPEF1_uc011mjb.2_Missense_Mutation_p.E414D NM_006240 NP_006231 O14829 PPE1_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA. 470 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity p.E470E(2) breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) ATACTATGGAAAACAGCGCCA 0.328000 57 53 0 0 0.003610 0 0 CSK 1445 broad.mit.edu 37 15 75094397 75094397 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:75094397C>T uc010bkb.1 + 12 1326 c.1143C>T c.(1141-1143)tcC>tcT p.S381S CSK_uc002ays.2_Silent_p.S381S|CSK_uc010bkc.1_Silent_p.S190S NM_001127190 NP_004374 P41240 CSK_HUMAN Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA. 381 Protein kinase. T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway Golgi apparatus|centrosome|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 AAATCTACTCCTTTGGGCGAG 0.542000 89 29 0 0 0.002836 0 0 APOB 338 broad.mit.edu 37 2 21249788 21249788 + Missense_Mutation SNP C A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:21249788C>A uc002red.3 - 14 2244 c.2116G>T c.(2116-2118)Ggg>Tgg p.G706W NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 706 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 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) CCTTGCTTCCCAAAAAGAGCT 0.423000 382 7 0.000673444 0.00110556 0.008291 1 0 ANKRD24 170961 broad.mit.edu 37 19 4219741 4219741 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:4219741G>A uc010dtt.1 + 18 3433 c.3157G>A c.(3157-3159)Gag>Aag p.E1053K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 1053 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CAAGGCCAAGGAGAAGGACAA 0.647000 44 20 0 0 0.008871 0 0 PLXND1 23129 broad.mit.edu 37 3 129291459 129291459 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:129291459C>T uc003emx.2 - 14 3170 c.3070G>A c.(3070-3072)Gag>Aag p.E1024K NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1024 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TACATCAGCTCCGTGCAGGGG 0.637000 17 15 0 0 0.004007 0 0 COL9A3 1299 broad.mit.edu 37 20 61449889 61449889 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:61449889G>A uc002ydm.3 + 2 170 c.167G>A c.(166-168)gGt>gAt p.G56D NM_001853 NP_001844 Q14050 CO9A3_HUMAN Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA. 56 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) GGTCCTCCAGGTCTGCCTGGG 0.582000 91 26 0 0 0.003954 0 0 MEX3C 51320 broad.mit.edu 37 18 48703834 48703835 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:48703834_48703835GG>AA uc002lfc.4 - 1 1227_1228 c.866_867CC>TT c.(865-867)gcc>gTT p.A289V NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA. 289 KH 1. cytoplasm|nucleus RNA binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1) 17 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) TCTCTCTTTTGGCCATGGCAAC 0.465000 55 19 0 0 0.004672 0 0 PCDH19 57526 broad.mit.edu 37 X 99662087 99662087 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:99662087G>A uc010nmz.3 - 0 3185 c.1509C>T c.(1507-1509)ttC>ttT p.F503F PCDH19_uc004efw.4_Silent_p.F503F|PCDH19_uc004efx.4_Silent_p.F503F NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 503 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AGACATAGGTGAAGACAGGCA 0.582000 67 79 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141752634 141752634 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:141752634C>T uc003vwy.3 + 25 3063 c.3009C>T c.(3007-3009)taC>taT p.Y1003Y NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1003 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACGACCTATACTCTGTCAGTG 0.458000 116 33 0 0 0.005524 0 0 FMO4 2329 broad.mit.edu 37 1 171310800 171310800 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:171310800G>A uc001gho.3 + 9 1716 c.1499G>A c.(1498-1500)cGa>cAa p.R500Q NM_002022 NP_002013 P31512 FMO4_HUMAN Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA. 500 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.R500Q(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTAAAAACTCGAATTGTCCCT 0.478000 24 22 0 0 0.001882 0 0 ARSF 416 broad.mit.edu 37 X 3030423 3030423 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:3030423G>A uc022brz.1 + 10 1735 c.1599G>A c.(1597-1599)aaG>aaA p.K533K ARSF_uc004cre.2_Silent_p.K533K|ARSF_uc004crf.2_Silent_p.K533K NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 533 extracellular region arylsulfatase activity|metal ion binding p.K533K(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) TGATTAAAAAGGTGGCCAACG 0.562000 84 42 0 0 0.007835 0 0 SALL1 6299 broad.mit.edu 37 16 51171098 51171098 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:51171098C>T uc021tif.1 - 2 3931 c.3609G>A c.(3607-3609)atG>atA p.M1203I SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.M152I NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1300 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CACTGCTTGCCATTTTCTCCA 0.582000 51 21 0 0 0.002299 0 0 CTBS 1486 broad.mit.edu 37 1 85035652 85035652 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:85035652T>A uc001dka.2 - 2 552 c.487A>T c.(487-489)Act>Tct p.T163S CTBS_uc001dkc.3_Missense_Mutation_p.T72S|CTBS_uc001dkb.2_Intron NM_004388 NP_004379 Q01459 DIAC_HUMAN Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA. 163 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GAGTCTGTAGTTTCTTTGACT 0.323000 39 20 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179433686 179433686 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:179433686C>T uc021vsy.1 - 274 69694 c.69469G>A c.(69469-69471)Gat>Aat p.D23157N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D16852N|TTN_uc021vta.1_Missense_Mutation_p.D16785N|TTN_uc021vtb.1_Missense_Mutation_p.D16660N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24084 Ig-like 118. 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) CTGCCACCATCATGTTCAGGT 0.418000 91 87 0 0 0.003610 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726177 168726177 + Nonsense_Mutation SNP G T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:168726177G>T uc021vsc.1 + 0 628 c.628G>T c.(628-630)Gga>Tga p.G210* B3GALT1_uc002udz.1_Nonsense_Mutation_p.G210* NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 210 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TGTCATTAATGGAGGACCGAT 0.438000 45 14 0.000151284 0.000249503 0.001855 1 0 MYO9B 4650 broad.mit.edu 37 19 17306107 17306107 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:17306107C>T uc010eak.3 + 21 4023 c.3871C>T c.(3871-3873)Ccc>Tcc p.P1291S MYO9B_uc002nfi.3_Missense_Mutation_p.P1291S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1291S|MYO9B_uc002nfl.1_5'Flank NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1291 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCCCGACAGCCCCGGAGGCTC 0.711000 35 28 0 0 0.008361 0 0 PPP1R10 5514 broad.mit.edu 37 6 30570277 30570277 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:30570277G>A uc003nqn.1 - 18 2701 c.2149C>T c.(2149-2151)Cct>Tct p.P717S PPP1R10_uc010jsc.1_Missense_Mutation_p.P371S NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 717 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 ggaggaggaggaggaggTTCG 0.677000 32 24 0 0 0.002299 0 0 ATP8B3 148229 broad.mit.edu 37 19 1783186 1783186 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:1783186G>A uc002ltw.3 - 28 3978 c.3744C>T c.(3742-3744)cgC>cgT p.R1248R ATP8B3_uc002ltv.3_Silent_p.R1211R|ATP8B3_uc002ltx.3_Non-coding_Transcript NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 1248 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGGAACGGCGGGCACGAG 0.582000 17 5 0 0 0.000602 0 0 SERTAD1 29950 broad.mit.edu 37 19 40929200 40929200 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:40929200G>A uc002ont.4 - 1 413 c.254C>T c.(253-255)gCt>gTt p.A85V NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA. 85 SERTA. positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGCAGGGCAGCCGCGGGTGC 0.667000 15 7 0 0 0.004482 0 0 DDX43 55510 broad.mit.edu 37 6 74116114 74116114 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:74116114G>A uc003pgw.3 + 6 1179 c.835G>A c.(835-837)Gga>Aga p.G279R DDX43_uc011dyn.1_Non-coding_Transcript NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 279 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGTGTTGCAAGGAATAGATCT 0.428000 43 17 0 0 0.004990 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315473 30315473 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:30315473C>T uc009xle.2 - 2 3741 c.3604G>A c.(3604-3606)Gaa>Aaa p.E1202K KIAA1462_uc001iux.3_Missense_Mutation_p.E1202K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E1064K NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1202 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCCTTTTGTTCGAAGAACTTG 0.512000 51 120 0 0 0.003610 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562935 140562935 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:140562935G>A uc003liv.3 + 0 1956 c.801G>A c.(799-801)agG>agA p.R267R NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 267 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTCCGCCAGGGATTTAGACG 0.478000 38 46 0 0 0.003610 0 0 ZNF616 90317 broad.mit.edu 37 19 52618800 52618800 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:52618800A>G uc002pym.3 - 3 1900 c.1617T>C c.(1615-1617)caT>caC p.H539H ZNF616_uc002pyn.3_Non-coding_Transcript NM_178523 NP_848618 Q08AN1 ZN616_HUMAN Homo sapiens zinc finger protein 616 (ZNF616), mRNA. 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GAATTCTCCGATGCCTTGCAA 0.443000 38 38 0 0 0.004878 0 0 ABHD4 63874 broad.mit.edu 37 14 23070653 23070653 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:23070653C>T uc001wgm.3 + 1 174 c.105C>T c.(103-105)atC>atT p.I35I ABHD4_uc010tmz.1_Silent_p.I35I|ABHD4_uc010tna.1_Silent_p.I35I|ABHD4_uc010tnb.2_Non-coding_Transcript NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 35 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) AAGCCAGGATCCTCCAGTGTA 0.562000 40 15 0 0 0.004007 0 0 LAMC2 3918 broad.mit.edu 37 1 183155552 183155552 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:183155552C>T uc001gqa.2 + 0 379 c.65C>T c.(64-66)aCc>aTc p.T22I LAMC2_uc001gpz.4_Missense_Mutation_p.T22I|LAMC2_uc010poa.2_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 22 cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 GCCCGGGCCACCTCCAGGAGG 0.657000 58 6 0 0 0.001984 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042580 75042580 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:75042580G>A uc002ayr.1 + 1 565 c.501G>A c.(499-501)aaG>aaA p.K167K NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 167 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) ATGTGAGCAAGGAGGCTAAGG 0.612000 107 45 0 0 0.003610 0 0 ANK1 286 broad.mit.edu 37 8 41552247 41552247 + Missense_Mutation SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:41552247C>G uc003xok.3 - 27 3274 c.3190G>C c.(3190-3192)Gtg>Ctg p.V1064L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.V380L|ANK1_uc003xoi.3_Missense_Mutation_p.V1064L|ANK1_uc003xoj.3_Missense_Mutation_p.V1064L|ANK1_uc003xol.3_Missense_Mutation_p.V1064L|ANK1_uc003xom.3_Missense_Mutation_p.V1105L NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1064 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GACATGATCACGAAGTACAGC 0.602000 19 33 0 0 0.003271 0 0 ZNF187 7741 broad.mit.edu 37 6 28239966 28239967 + Silent DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:28239966_28239967CC>TT uc011dlc.2 + 2 537_538 c.267_268CC>TT c.(265-270)atcctg>atTTtg p.89_90IL>IL ZNF187_uc003nku.4_Intron|ZNF187_uc003nkw.4_5'UTR|ZNF187_uc011dle.2_5'UTR|ZNF187_uc011dlf.2_Intron|ZNF187_uc011dld.2_Silent_p.89_90IL>IL|ZNF187_uc011dlg.2_5'UTR NM_001023560 NP_001018854 Q16670 ZN187_HUMAN Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA. 90 SCAN box. viral reproduction nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding AGGAGCAGATCCTGGAGCTGCT 0.584000 14 11 0 0 0.004672 0 0 VPS8 23355 broad.mit.edu 37 3 184769774 184769774 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:184769774C>T uc021xik.1 + 46 4336 c.4248C>T c.(4246-4248)ttC>ttT p.F1416F VPS8_uc003fpb.1_Silent_p.F1414F|VPS8_uc010hyd.1_Silent_p.F1324F|VPS8_uc010hye.1_Silent_p.F843F NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 1416 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATGAGAACTTCCAGCTGCAGC 0.562000 39 17 0 0 0.004990 0 0 TTLL12 23170 broad.mit.edu 37 22 43575962 43575962 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr22:43575962G>A uc003bdq.3 - 3 653 c.591C>T c.(589-591)ttC>ttT p.F197F NM_015140 NP_055955 Q14166 TTL12_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA. 197 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TCCGCGAACCGAACTCGTCCA 0.622000 18 49 0 0 0.003610 0 0 VPS26A 9559 broad.mit.edu 37 10 70925797 70925797 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:70925797G>A uc001jpb.3 + 7 785 c.659_splice c.e7-1 p.G220_splice VPS26A_uc001jpc.3_Splice_Site_p.G220_splice|VPS26A_uc009xqa.3_Splice_Site_p.G213_splice|VPS26A_uc001jpd.3_Splice_Site_p.G109_splice NM_004896 NP_004887 O75436 VP26A_HUMAN Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA. 220 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2) 8 TATTGCACTAGGACCCAGTAC 0.303000 11 17 0 0 0.008871 0 0 LCT 3938 broad.mit.edu 37 2 136570389 136570389 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:136570389C>T uc002tuu.1 - 6 1856 c.1845G>A c.(1843-1845)gaG>gaA p.E615E NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 615 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCTCAGGTCCTCAGGCCTCT 0.602000 46 13 0 0 0.002450 0 0 KCNB1 3745 broad.mit.edu 37 20 47990052 47990052 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:47990052C>T uc002xur.1 - 1 2211 c.2045G>A c.(2044-2046)aGt>aAt p.S682N KCNB1_uc002xus.1_Missense_Mutation_p.S682N NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 682 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGGAGTGGACTGGGGTCACC 0.547000 53 15 0 0 0.004990 0 0 RASGRF1 5923 broad.mit.edu 37 15 79341874 79341874 + Silent SNP G T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:79341874G>T uc002beq.3 - 3 963 c.588C>A c.(586-588)ccC>ccA p.P196P RASGRF1_uc002bep.3_Silent_p.P196P|RASGRF1_uc010blm.1_Silent_p.P118P|RASGRF1_uc002ber.4_Silent_p.P196P NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 196 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTTCATCGTTGGGGGCGACAG 0.552000 33 36 6.99958e-10 1.16154e-09 0.006999 1 0 GPR112 139378 broad.mit.edu 37 X 135432543 135432543 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:135432543C>T uc004ezu.1 + 5 6969 c.6678C>T c.(6676-6678)tcC>tcT p.S2226S GPR112_uc010nsb.1_Silent_p.S2021S|GPR112_uc010nsc.1_Silent_p.S1993S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2226 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) CCACACCTTCCTTTCTATCTA 0.463000 85 24 0 0 0.003330 0 0 UNC13A 23025 broad.mit.edu 37 19 17783262 17783262 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:17783262C>T uc021uqk.1 - 3 237 c.195G>A c.(193-195)tgG>tgA p.W65* NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 65 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GACCCTTATTCCACACCTCCA 0.607000 25 24 0 0 0.006320 0 0 SYVN1 84447 broad.mit.edu 37 11 64900492 64900492 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:64900492G>A uc001odb.3 - 3 373 c.279C>T c.(277-279)acC>acT p.T93T SYVN1_uc001odc.3_Silent_p.T93T|SYVN1_uc009yqc.3_Silent_p.T93T NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA. 93 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CCCGAAAAACGGTGAAGGCCA 0.527000 13 33 0 0 0.002836 0 0 ZNF676 163223 broad.mit.edu 37 19 22363414 22363414 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:22363414C>T uc002nqs.1 - 2 1423 c.1105G>A c.(1105-1107)Gga>Aga p.G369R NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATCCTTCACATTTG 0.393000 48 19 0 0 0.007413 0 0 ZNF665 79788 broad.mit.edu 37 19 53669139 53669139 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:53669139C>T uc010eqm.1 - 3 704 c.604G>A c.(604-606)Gga>Aga p.G202R NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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) GGCTTCTCTCCAGTATGAATT 0.388000 54 66 0 0 0.003610 0 0 ODZ3 55714 broad.mit.edu 37 4 183721183 183721183 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:183721183C>T uc003ivd.1 + 26 7854 c.7779C>T c.(7777-7779)ttC>ttT p.F2593F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2593 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CGCGCAGGTTCGCGGACGTGG 0.692000 6 4 0 0 0.000248 0 0 TP53AIP1 63970 broad.mit.edu 37 11 128807690 128807690 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:128807690G>A uc001qey.3 - 1 706 c.24C>T c.(22-24)agC>agT p.S8S TP53AIP1_uc021qsc.1_Silent_p.S8S|TP53AIP1_uc021qsd.1_Silent_p.S8S|TP53AIP1_uc001qex.3_Silent_p.S8S|TP53AIP1_uc009zcm.2_Non-coding_Transcript|TP53AIP1_uc021qse.1_Silent_p.S8S NM_022112 NP_071395 Q9HCN2 TPIP1_HUMAN Homo sapiens tumor protein p53 regulated apoptosis inducing protein 1 (TP53AIP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 8 apoptosis mitochondrion p.A7V(1) large_intestine(1)|lung(1)|skin(1) 3 CAGATCTGAAGCTCGCCTCAG 0.597000 21 40 0 0 0.002522 0 0 KIAA1210 57481 broad.mit.edu 37 X 118227629 118227629 + Splice_Site SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:118227629C>T uc004era.4 - 10 1483 c.1483_splice c.e10+1 p.D495_splice NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 495 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GATATGCTAACCTGCACTGTC 0.438000 12 18 0 0 0.007413 0 0 TNRC18 84629 broad.mit.edu 37 7 5348769 5348769 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:5348769C>T uc003soi.4 - 27 8968 c.8619G>A c.(8617-8619)caG>caA p.Q2873Q NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 2873 BAH. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCACCTGGCCCTGGTGGAACT 0.672000 4 6 0 0 0.001168 0 0 KIF15 56992 broad.mit.edu 37 3 44867530 44867530 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:44867530G>A uc003cnx.4 + 21 2699 c.2550_splice c.e21-1 p.R850_splice KIF15_uc010hiq.3_Splice_Site_p.R753_splice|KIF15_uc010hir.3_Splice_Site NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 850 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TCCTTATAAAGGTTAGAAAAC 0.318000 54 12 0 0 0.001855 0 0 BRSK2 9024 broad.mit.edu 37 11 1471927 1471927 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:1471927C>T uc001ltm.3 + 13 1789 c.1536C>T c.(1534-1536)tcC>tcT p.S512S BRSK2_uc009ycv.1_Silent_p.S488S|BRSK2_uc001lth.1_Silent_p.S466S|BRSK2_uc001lti.3_Silent_p.S466S|BRSK2_uc001ltl.3_Silent_p.S466S|BRSK2_uc001ltj.3_Silent_p.S466S|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript|BRSK2_uc009ycw.3_5'UTR NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA. 466 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 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) CGCCCCCGTCCAGCCCCAGCG 0.692000 23 4 0 0 0.000602 0 0 PDCD11 22984 broad.mit.edu 37 10 105173056 105173056 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:105173056G>A uc001kwy.1 + 8 1249 c.1162G>A c.(1162-1164)Gat>Aat p.D388N NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 388 S1 motif 4. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TAGGCTGAAGGATGGGGTTCT 0.547000 7 25 0 0 0.004656 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652161 36652161 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:36652161C>T uc021yzb.1 + 2 385 c.283C>T c.(283-285)Cct>Tct p.P95S CDKN1A_uc021yzc.1_Missense_Mutation_p.P95S|CDKN1A_uc011dtq.2_Missense_Mutation_p.P129S|CDKN1A_uc003omm.4_Missense_Mutation_p.P95S|CDKN1A_uc003omn.3_Missense_Mutation_p.P95S NM_078467 NP_510867 P38936 CDN1A_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA. 95 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 AGGCAGGCGGCCTGGCACCTC 0.667000 22 9 0 0 0.004482 0 0 TACR1 6869 broad.mit.edu 37 2 75426023 75426023 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:75426023G>A uc002sng.2 - 0 623 c.38C>T c.(37-39)cCa>cTa p.P13L TACR1_uc002snh.3_Missense_Mutation_p.P13L NM_001058 NP_001049 P25103 NK1R_HUMAN Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA. 13 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GGAGATGTTTGGGGAGAGGTC 0.542000 29 10 0 0 0.008291 0 0 DNAH7 56171 broad.mit.edu 37 2 196602829 196602829 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:196602829C>T uc002utj.4 - 64 11992 c.11891G>A c.(11890-11892)aGg>aAg p.R3964K DNAH7_uc002uti.4_Missense_Mutation_p.R447K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3964 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TATATCTGCCCTCTTACAGGG 0.413000 22 9 0 0 0.008291 0 0 abParts 0 broad.mit.edu 37 14 107095556 107095556 + RNA SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:107095556T>C uc021ser.1 - 112 c.4940A>G Parts of antibodies, mostly variable regions. ACCACAGGTGTTTCATGTTCT 0.532000 54 4 0 0 0.001168 0 0 C2orf78 388960 broad.mit.edu 37 2 74043308 74043308 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:74043308C>T uc002sjr.1 + 2 2079 c.1958C>T c.(1957-1959)tCc>tTc p.S653F NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 653 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TTCTCTTCCTCCAGGACCCTG 0.512000 31 35 0 0 0.003271 0 0 ARL6IP5 10550 broad.mit.edu 37 3 69153703 69153703 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:69153703G>A uc003dnr.3 + 2 592 c.483G>A c.(481-483)ccG>ccA p.P161P NM_006407 NP_006398 O75915 PRAF3_HUMAN Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA. 161 Targeting to endoplasmic reticulum membrane (By similarity). L-glutamate transport endoplasmic reticulum membrane|integral to membrane biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) AGAGGACACCGATGGGCATTG 0.438000 40 15 0 0 0.002450 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989453 121989453 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:121989453G>A uc002tmx.3 - 12 1383 c.1290C>T c.(1288-1290)caC>caT p.H430H TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA. 430 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GGTAGACTCGGTGGATGTGCT 0.637000 62 21 0 0 0.008871 0 0 TRIM65 201292 broad.mit.edu 37 17 73887946 73887946 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:73887946G>A uc002jpx.3 - 4 969 c.933C>T c.(931-933)ccC>ccT p.P311P NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA. 311 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGGTGCCAGGGGACCTGGGG 0.627000 18 5 0 0 0.001168 0 0 LAMA3 3909 broad.mit.edu 37 18 21396405 21396405 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:21396405G>A uc002kuq.3 + 17 2187 c.2101G>A c.(2101-2103)Gga>Aga p.G701R LAMA3_uc002kur.3_Missense_Mutation_p.G701R NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 701 Domain V.|Laminin EGF-like 8. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGGCCCTCGGGAGTGTGCCA 0.547000 25 22 0 0 0.002780 0 0 FAT2 2196 broad.mit.edu 37 5 150932928 150932928 + Silent SNP C A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:150932928C>A uc003lue.4 - 4 3979 c.3966G>T c.(3964-3966)ggG>ggT p.G1322G NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1322 Cadherin 11. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGGTGGCTGCCCACTGTCTG 0.577000 23 7 0.00198382 0.00325176 0.001984 1 0 MED13 9969 broad.mit.edu 37 17 60060325 60060325 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:60060325C>T uc002izo.3 - 15 3116 c.3039G>A c.(3037-3039)agG>agA p.R1013R NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 1013 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding p.P1012T(15)|p.R1013S(2) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCCTTGGAGTCCTTGGAGTTG 0.502000 46 15 0 0 0.003163 0 0 COL24A1 255631 broad.mit.edu 37 1 86581030 86581030 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:86581030G>A uc001dlj.3 - 3 1598 c.1523C>T c.(1522-1524)cCg>cTg p.P508L COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P508L NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 508 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CTTCCCTGACGGACCTGGGAT 0.423000 27 10 0 0 0.001368 0 0 OR52L1 338751 broad.mit.edu 37 11 6007408 6007408 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:6007408G>A uc001mcd.2 - 0 808 c.753C>T c.(751-753)gcC>gcT p.A251A NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTAAGTCGGGCCTCACTCC 0.512000 29 64 0 0 0.003610 0 0 ZNF845 91664 broad.mit.edu 37 19 53855689 53855689 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:53855689C>T uc010ydv.1 + 3 1878 c.1761C>T c.(1759-1761)gtC>gtT p.V587V ZNF845_uc010ydw.1_Silent_p.V587V NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 587 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTCACCAAGTCTTTAGTAATG 0.378000 14 7 0 0 0.001984 0 0 C7 730 broad.mit.edu 37 5 40955600 40955600 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:40955600G>A uc003jmh.3 + 9 1319 c.1205G>A c.(1204-1206)cGa>cAa p.R402Q C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 402 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AACAAAAGGCGATATTCTGCC 0.438000 66 55 0 0 0.003610 0 0 CHI3L1 1116 broad.mit.edu 37 1 203150327 203150327 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:203150327C>T uc001gzi.2 - 6 845 c.674G>A c.(673-675)gGt>gAt p.G225D CHI3L1_uc001gzk.1_Missense_Mutation_p.G22D|CHI3L1_uc001gzj.2_Missense_Mutation_p.G225D|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA. 225 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 ATCCTCCTGACCTCGGAACAG 0.577000 143 29 0 0 0.002096 0 0 ZNF556 80032 broad.mit.edu 37 19 2877606 2877606 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:2877606C>T uc002lwp.1 + 3 737 c.650C>T c.(649-651)tCt>tTt p.S217F ZNF556_uc002lwq.3_Missense_Mutation_p.S216F NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTTCCCACTCTCTCACTGAA 0.498000 18 44 0 0 0.002222 0 0 FCGBP 8857 broad.mit.edu 37 19 40360893 40360893 + Missense_Mutation SNP T G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:40360893T>G uc002omp.4 - 32 15523 c.15515A>C c.(15514-15516)cAa>cCa p.Q5172P NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5172 Cys-rich.|TIL 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACAATCTTGGACAGGGAT 0.607000 49 21 0 0 0.001523 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4463325 4463325 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:4463325G>A uc002cwf.3 - 1 584 c.141C>T c.(139-141)ttC>ttT p.F47F CORO7-PAM16_uc002cwg.4_5'UTR|CORO7-PAM16_uc002cwh.4_Silent_p.F47F|CORO7-PAM16_uc010uxh.2_Silent_p.F47F|CORO7-PAM16_uc010uxi.2_Silent_p.F47F|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_5'UTR NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. GGTCGGAGTTGAAGGCGATCA 0.517000 5 9 0 0 0.004482 0 0 A2ML1 144568 broad.mit.edu 37 12 8994057 8994058 + Missense_Mutation DNP GG AA AA rs75353365 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:8994057_8994058GG>AA uc001quz.4 + 10 1271_1272 c.1173_1174GG>AA c.(1171-1176)ctggtt>ctAAtt p.V392I A2ML1_uc001qva.1_5'Flank NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 236 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ACCAGACCCTGGTTACTGATAA 0.485000 40 50 0 0 0.004672 0 0 MYLK3 91807 broad.mit.edu 37 16 46782006 46782006 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:46782006C>T uc002eei.4 - 0 216 c.100G>A c.(100-102)Gag>Aag p.E34K MYLK3_uc010vge.2_Intron NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 34 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCCACCTTCTCGTTCAGCATG 0.577000 61 39 0 0 0.003214 0 0 CHST6 4166 broad.mit.edu 37 16 75513664 75513664 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:75513664G>A uc021tlj.1 - 0 63 c.63C>T c.(61-63)ctC>ctT p.L21L CHST6_uc002fef.3_Silent_p.L21L|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Silent_p.L21L NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA. 21 N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GAAAGAGGAGGAGGAAGGTCT 0.701000 14 7 0 0 0.001984 0 0 WDR90 197335 broad.mit.edu 37 16 706315 706315 + Silent SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:706315C>G uc002cii.1 + 17 2034 c.1980C>G c.(1978-1980)ccC>ccG p.P660P WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.P187P|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 660 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACGAGGGCCCCGTCAGCTCAG 0.697000 22 23 0 0 0.007291 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144075892 144075893 + Nonsense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:144075892_144075893CC>TT uc003wel.3 + 13 4687_4688 c.4569_4570CC>TT c.(4567-4572)ccccga>ccTTga p.R1524* ARHGEF5_uc003wem.3_Nonsense_Mutation_p.R325* NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 1524 SH3. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding p.R1524*(2) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCTACAAGCCCCGAGAGAATGA 0.569000 124 36 0 0 0.004672 0 0 CSAG1 158511 broad.mit.edu 37 X 151908889 151908889 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:151908889C>T uc004fge.3 + 3 456 c.128C>T c.(127-129)tCc>tTc p.S43F CSAG1_uc004fgf.3_Missense_Mutation_p.S43F|CSAG1_uc004fgd.3_Non-coding_Transcript NM_153478 NP_705611 Q6PB30 CSAG1_HUMAN Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA. 43 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CCACGAGCCTCCAGCCCATTT 0.562000 199 68 0 0 0.003610 0 0 KLHL4 56062 broad.mit.edu 37 X 86890621 86890621 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:86890621G>A uc004efa.2 + 8 1953 c.1771G>A c.(1771-1773)Gac>Aac p.D591N KLHL4_uc004efb.2_Missense_Mutation_p.D591N NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 591 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GGAATACTTTGACCCACACAC 0.413000 43 13 0 0 0.001368 0 0 SOX13 9580 broad.mit.edu 37 1 204091084 204091084 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:204091084G>A uc001ham.3 + 7 1427 c.832G>A c.(832-834)Ggg>Agg p.G278R SOX13_uc010pqp.2_Missense_Mutation_p.G277R|SOX13_uc010pqq.2_Missense_Mutation_p.G145R NM_005686 NP_005677 Q9UN79 SOX13_HUMAN Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA. 278 Pro-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G278G(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GAAGAGGCCTGGGGCCATGGC 0.637000 30 5 0 0 0.000602 0 0 LOC100288778 100288778 broad.mit.edu 37 12 88651 88651 + Missense_Mutation SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:88651A>G uc010scy.2 + 5 715 c.160A>G c.(160-162)Agc>Ggc p.S54G LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdb.1_Non-coding_Transcript|LOC100288778_uc010sdc.1_Non-coding_Transcript|LOC100288778_uc010sdd.2_Missense_Mutation_p.S54G|LOC100288778_uc010sde.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdf.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdg.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdh.2_Non-coding_Transcript Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA. TGACCTGCCCAGCATTGCCAA 0.587000 1 4 0 0 0.000602 0 0 NET1 10276 broad.mit.edu 37 10 5498571 5498571 + Missense_Mutation SNP C T T rs150542987 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:5498571C>T uc001iia.3 + 11 1543 c.1405C>T c.(1405-1407)Cgc>Tgc p.R469C NET1_uc010qar.2_Missense_Mutation_p.R288C|NET1_uc001iib.3_Missense_Mutation_p.R415C|NET1_uc010qas.2_Missense_Mutation_p.R288C NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA. 469 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity p.R469C(1)|p.R415C(1) breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CTTTAGAATTCGCTTCCATGA 0.403000 20 55 0 0 0.003610 0 0 COL4A5 1287 broad.mit.edu 37 X 107850081 107850081 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:107850081C>T uc022ccg.1 + 28 2556 c.2354C>T c.(2353-2355)cCt>cTt p.P785L COL4A5_uc004enz.1_Missense_Mutation_p.P785L|COL4A5_uc004eob.1_Missense_Mutation_p.P393L NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 785 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTCCGGGTCCTCCAGGACGC 0.517000 Alport syndrome with Diffuse Leiomyomatosis 116 32 0 0 0.003271 0 0 ACADM 34 broad.mit.edu 37 1 76226820 76226820 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:76226820C>T uc001dgw.4 + 10 1389 c.959C>T c.(958-960)tCa>tTa p.S320L ACADM_uc010ord.2_Missense_Mutation_p.S234L|ACADM_uc009wbr.3_Missense_Mutation_p.S353L|ACADM_uc010ore.2_Missense_Mutation_p.S284L|ACADM_uc010orf.2_Missense_Mutation_p.S131L|ACADM_uc009wbp.3_Missense_Mutation_p.S324L|ACADM_uc010org.2_Missense_Mutation_p.S190L|ACADM_uc009wbs.1_Non-coding_Transcript NM_000016 NP_000007 P11310 ACADM_HUMAN Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 320 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 CAAGCAATATCATTTATGCTG 0.338000 15 12 0 0 0.000978 0 0 SULF1 23213 broad.mit.edu 37 8 70513987 70513987 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:70513987G>A uc003xyg.2 + 8 1545 c.984G>A c.(982-984)aaG>aaA p.K328K SULF1_uc010lza.1_Silent_p.K328K|SULF1_uc003xyd.2_Silent_p.K328K|SULF1_uc003xye.2_Silent_p.K328K|SULF1_uc003xyf.2_Silent_p.K328K|SULF1_uc003xyh.1_Non-coding_Transcript NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 328 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GACTGGTCAAGGGGAAATCCA 0.448000 126 48 0 0 0.003610 0 0 EHD3 30845 broad.mit.edu 37 2 31483452 31483452 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:31483452A>T uc002rnu.3 + 3 1187 c.579A>T c.(577-579)aaA>aaT p.K193N EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 193 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) ATGCCCACAAACTGGACATCT 0.537000 58 18 0 0 0.006122 0 0 MYO18B 84700 broad.mit.edu 37 22 26423393 26423393 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr22:26423393C>T uc003abz.1 + 42 7703 c.7453C>T c.(7453-7455)Ctc>Ttc p.L2485F MYO18B_uc003aca.1_Missense_Mutation_p.L2366F|MYO18B_uc010guy.1_Missense_Mutation_p.L2367F|MYO18B_uc010guz.1_Missense_Mutation_p.L2365F|MYO18B_uc011aka.1_Missense_Mutation_p.L1639F|MYO18B_uc011akb.1_Missense_Mutation_p.L1998F|MYO18B_uc010gva.1_Missense_Mutation_p.L468F|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2485 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCGTTCCTTTCTCTCGGGGAT 0.557000 5 24 0 0 0.002299 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572200 186572200 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:186572200G>A uc010hyy.3 + 3 577 c.442G>A c.(442-444)Ggt>Agt p.G148S ADIPOQ_uc003fra.3_Missense_Mutation_p.G148S NM_001177800 NP_004788 Q15848 ADIPO_HUMAN Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA. 148 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity p.G148V(1) breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) TGGCTCCACTGGTAAATTCCA 0.453000 45 38 0 0 0.005524 0 0 POLQ 10721 broad.mit.edu 37 3 121206697 121206697 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:121206697G>A uc003eee.4 - 15 5210 c.5081C>T c.(5080-5082)tCa>tTa p.S1694L POLQ_uc003eed.3_Missense_Mutation_p.S866L NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1694 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AGAAGAAAATGAAATTCCCTG 0.308000 DNA polymerases (catalytic subunits) 63 14 0 0 0.003163 0 0 LRRC7 57554 broad.mit.edu 37 1 70541893 70541893 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:70541893C>T uc001dep.3 + 21 4280 c.4250C>T c.(4249-4251)cCc>cTc p.P1417L LRRC7_uc009wbg.3_Missense_Mutation_p.P701L|LRRC7_uc001deq.3_Missense_Mutation_p.P611L NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1417 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATTCAGATCCCCTCTTCACAG 0.502000 46 35 0 0 0.004878 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518552 7518552 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:7518552C>T uc002mgi.3 + 6 1744 c.1491C>T c.(1489-1491)ctC>ctT p.L497L ARHGEF18_uc010xjm.1_Silent_p.L339L|ARHGEF18_uc002mgh.3_Silent_p.L339L|ARHGEF18_uc002mgj.1_Silent_p.L140L NM_001130955 NP_056133 Q6ZSZ5 ARHGI_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA. 497 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AGCGGCAGCTCCACCTGGAGG 0.582000 79 17 0 0 0.008871 0 0 DOCK10 55619 broad.mit.edu 37 2 225740795 225740795 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:225740795G>A uc010fwz.1 - 7 1130 c.891C>T c.(889-891)ctC>ctT p.L297L DOCK10_uc002vob.2_Silent_p.L291L|DOCK10_uc002vod.1_Silent_p.L297L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA. 297 GTP binding 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) TCCTCCCTTGGAGGGGCCCCT 0.512000 72 21 0 0 0.002299 0 0 MMEL1 79258 broad.mit.edu 37 1 2522449 2522449 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:2522449C>T uc001ajy.2 - 23 2534 c.2320G>A c.(2320-2322)Gag>Aag p.E774K FAM213B_uc021oew.1_Non-coding_Transcript|FAM213B_uc021oex.1_3'UTR|FAM213B_uc001ajw.2_3'UTR|FAM213B_uc001ajv.2_3'UTR|FAM213B_uc001aju.2_3'UTR|FAM213B_uc010nzd.2_3'UTR|FAM213B_uc010nze.2_3'UTR|FAM213B_uc010nzf.2_3'UTR|FAM213B_uc001ajx.2_3'UTR|MMEL1_uc009vlg.1_Non-coding_Transcript NM_033467 NP_258428 Q495T6 MMEL1_HUMAN Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA. 774 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CGGCATCGCTCCTTGGGGTGC 0.701000 13 7 0 0 0.004482 0 0 HSPBP1 23640 broad.mit.edu 37 19 55776708 55776708 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:55776708G>A uc002qkd.3 - 7 1277 c.943C>T c.(943-945)Ctg>Ttg p.L315L HSPBP1_uc002qjx.3_Silent_p.L361L|HSPBP1_uc002qkc.3_Silent_p.L315L|X05128_uc002qke.3_5'Flank NM_001130106 NP_036399 Q9NZL4 HPBP1_HUMAN Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA. 318 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding p.E314*(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TCCAGGCCCAGTTCCGGCTCC 0.647000 101 32 0 0 0.003755 0 0 DBC1 1620 broad.mit.edu 37 9 121929549 121929549 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:121929549C>T uc004bkc.2 - 7 2555 c.2099G>A c.(2098-2100)cGg>cAg p.R700Q NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 700 cell cycle arrest|cell death cytoplasm protein binding p.R700W(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 AATTCGGTCCCGAATATCCAA 0.572000 128 30 0 0 0.006320 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95481214 95481214 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:95481214G>A uc010fhq.2 - 1 1166 c.774C>T c.(772-774)ttC>ttT p.F258F ANKRD20A2_uc010fhp.3_Non-coding_Transcript NM_001012421 NP_001012421 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA. 678 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TTGTCTTACGGAACTTATCTT 0.323000 49 62 0 0 0.003610 0 0 PDZD4 57595 broad.mit.edu 37 X 153068892 153068892 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:153068892G>A uc004fja.1 - 7 2494 c.2244C>T c.(2242-2244)acC>acT p.T748T PDZD4_uc004fiy.1_Silent_p.T667T|PDZD4_uc004fiz.1_Silent_p.T742T|PDZD4_uc004fix.2_Silent_p.T646T|PDZD4_uc011mze.1_Silent_p.T633T|PDZD4_uc022chy.1_Silent_p.T121T NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 742 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTGGATGGTGATCCAGT 0.602000 23 24 0 0 0.002780 0 0 HNRNPL 3191 broad.mit.edu 37 19 39334494 39334494 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:39334494G>A uc021uuh.1 - 5 879 c.868C>T c.(868-870)Ctc>Ttc p.L290F HNRNPL_uc002ojk.3_5'Flank|HNRNPL_uc002ojl.3_5'Flank|HNRNPL_uc021uui.1_Missense_Mutation_p.L157F|HNRNPL_uc010xun.2_5'UTR NM_001533 NP_001005335 P14866 HNRPL_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA. 290 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TGTCCACTGAGATTGGGGTTT 0.473000 38 49 0 0 0.003610 0 0 NLRP1 22861 broad.mit.edu 37 17 5463221 5463221 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:5463221G>A uc002gci.3 - 3 1350 c.795C>T c.(793-795)tcC>tcT p.S265S NLRP1_uc002gcg.1_Silent_p.S265S|NLRP1_uc002gch.4_Silent_p.S265S|NLRP1_uc002gck.3_Silent_p.S265S|NLRP1_uc002gcj.3_Silent_p.S265S|NLRP1_uc002gcl.3_Silent_p.S265S|NLRP1_uc010clh.3_Silent_p.S265S NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 265 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) AGGGCCATGTGGAACAGAGGC 0.557000 155 54 0 0 0.003610 0 0 EDAR 10913 broad.mit.edu 37 2 109526934 109526934 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:109526934G>A uc010fjn.3 - 8 1428 c.881C>T c.(880-882)cCa>cTa p.P294L EDAR_uc010yws.2_Missense_Mutation_p.P294L|EDAR_uc002teq.4_Missense_Mutation_p.P262L NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 262 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGGCTTTGCTGGAGTTGCTGT 0.557000 19 28 0 0 0.008361 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458870 45458870 + RNA SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:45458870C>T uc001rol.3 - 0 c.325G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CGCAGTTAGCCTCAGCTCTCC 0.458000 7 6 0 0 0.001984 0 0 ZNF295 49854 broad.mit.edu 37 21 43412714 43412714 + Silent SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr21:43412714T>C uc021wjo.1 - 0 1491 c.1491A>G c.(1489-1491)ttA>ttG p.L497L ZNF295_uc002yzz.4_Silent_p.L497L|ZNF295_uc002zab.4_Silent_p.L497L|ZNF295_uc002yzy.4_Silent_p.L497L|ZNF295_uc002zaa.4_Silent_p.L497L|ZNF295_uc010gov.1_Silent_p.L497L|ZNF295_uc002zac.2_Silent_p.L497L NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 497 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 CATTCACCTTTAACTTCTTAA 0.443000 83 67 0 0 0.003610 0 0 ALDOB 229 broad.mit.edu 37 9 104192063 104192064 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:104192063_104192064CC>TT uc004bbk.2 - 2 379_380 c.297_298GG>AA c.(295-300)aaggaa>aaAAaa p.E100K NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 100 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.K99K(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) ATCCCCTTTTCCTTGAGGATGT 0.530000 183 127 0 0 0.004672 0 0 TEX14 56155 broad.mit.edu 37 17 56700313 56700313 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:56700313G>A uc010dcz.2 - 3 430 c.312C>T c.(310-312)atC>atT p.I104I TEX14_uc002iwr.2_Silent_p.I104I|TEX14_uc002iws.2_Silent_p.I104I|TEX14_uc010dda.2_5'UTR NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 104 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTTGCTAAGGATCCACTGAT 0.547000 23 21 0 0 0.008871 0 0 POGLUT1 56983 broad.mit.edu 37 3 119190234 119190234 + Silent SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:119190234A>T uc003ecm.3 + 2 339 c.255A>T c.(253-255)ctA>ctT p.L85L POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA. 85 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 GACGGAAGCTAGGGACCCACT 0.468000 55 78 0 0 0.003610 0 0 NEK2 4751 broad.mit.edu 37 1 211840481 211840482 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:211840481_211840482CC>TT uc001hir.2 - 6 1228_1229 c.1077_1078GG>AA c.(1075-1080)aaggaa>aaAAaa p.E360K NEK2_uc021piq.1_Missense_Mutation_p.E360K|NEK2_uc021pir.1_Missense_Mutation_p.E110K|NEK2_uc001his.4_Missense_Mutation_p.E360K NM_002497 NP_002488 P51955 NEK2_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA. 360 Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes. G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AACTTCCGTTCCTTTAGCAAGC 0.431000 48 77 0 0 0.004672 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132584 59132584 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:59132584C>T uc010rks.2 + 0 653 c.653C>T c.(652-654)tCc>tTc p.S218F NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 ATCATGATATCCTATGGCTAT 0.423000 25 67 0 0 0.003610 0 0 LAMP5 24141 broad.mit.edu 37 20 9498791 9498791 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:9498791G>A uc002wni.2 + 4 1075 c.580G>A c.(580-582)Gat>Aat p.D194N LAMP5_uc010zrc.2_Missense_Mutation_p.D150N NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 194 integral to membrane GGCCTCTAGTGATCCGCAGAA 0.512000 43 18 0 0 0.004990 0 0 VSIG8 391123 broad.mit.edu 37 1 159828675 159828675 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:159828675C>T uc001fuh.3 - 1 213 c.77G>A c.(76-78)gGg>gAg p.G26E NM_001013661 NP_001013683 Q5VU13 VSIG8_HUMAN Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA. 26 Ig-like V-type 1. integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(112;0.0597) CTGTCCATCCCCGTTGATCCG 0.602000 32 47 0 0 0.003610 0 0 NRXN2 9379 broad.mit.edu 37 11 64419053 64419053 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:64419053G>A uc021qkw.1 - 13 3054 c.2592C>T c.(2590-2592)atC>atT p.I864I NRXN2_uc021qkx.1_Silent_p.I824I|NRXN2_uc001oas.3_Silent_p.I824I|NRXN2_uc001oaq.3_Silent_p.I531I NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 864 Laminin G-like 4. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GCTCCGTCATGATGCCCGTCT 0.587000 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 4 0 0 0.000602 0 0 HCFC1 3054 broad.mit.edu 37 X 153218265 153218265 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:153218265C>T uc004fjp.3 - 18 5170 c.4642G>A c.(4642-4644)Gat>Aat p.D1548N NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 1548 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGCTCAGATCCACGGCGGCC 0.697000 OREG0003630 type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 10 0 0 0.006214 0 0 KRT15 3866 broad.mit.edu 37 17 39672217 39672217 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:39672217G>A uc002hwy.3 - 4 1137 c.946C>T c.(946-948)Cag>Tag p.Q316* KRT15_uc002hwz.3_Nonsense_Mutation_p.Q218*|KRT15_uc002hxa.3_Nonsense_Mutation_p.Q151*|KRT15_uc002hxb.1_Nonsense_Mutation_p.Q151* NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 316 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TTGCTGGTCTGGATCATTTCT 0.592000 134 51 0 0 0.003610 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186539 37186539 + RNA SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:37186539G>A uc002hrd.1 + 0 c.381G>A Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. TCCCCCTAAGGAGGTAGAACC 0.592000 19 4 0 0 0.000248 0 0 FAT4 79633 broad.mit.edu 37 4 126371324 126371324 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:126371324G>A uc003ifj.4 + 8 9153 c.9153G>A c.(9151-9153)ttG>ttA p.L3051L FAT4_uc011cgp.2_Silent_p.L1349L|FAT4_uc003ifi.1_Silent_p.L529L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3051 Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTTCTGACTTGAACCAAAACT 0.388000 22 16 0 0 0.003163 0 0 ATF7IP 55729 broad.mit.edu 37 12 14578076 14578076 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:14578076G>A uc001rbw.3 + 1 1385 c.1227G>A c.(1225-1227)acG>acA p.T409T ATF7IP_uc010shs.1_Silent_p.T409T|ATF7IP_uc001rbu.3_Silent_p.T409T|ATF7IP_uc001rbv.1_Silent_p.T409T|ATF7IP_uc001rbx.3_Silent_p.T409T|ATF7IP_uc010sht.1_Silent_p.T409T|ATF7IP_uc001rby.4_Silent_p.T409T|ATF7IP_uc001rbz.1_Silent_p.T409T|ATF7IP_uc001rca.3_Silent_p.T409T|ATF7IP_uc001rcb.3_Silent_p.T20T NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 409 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TTGTAGAAACGATTAATGAAA 0.338000 50 12 0 0 0.000978 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593801 16593801 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:16593801C>T uc002gqk.1 + 0 163 c.87C>T c.(85-87)gtC>gtT p.V29V NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 29 CCCCTAGCGTCGGGAGCCAGG 0.657000 17 24 0 0 0.003330 0 0 FMO3 2328 broad.mit.edu 37 1 171076868 171076868 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:171076868G>A uc001ghi.3 + 3 485 c.374G>A c.(373-375)tGg>tAg p.W125* FMO3_uc001ghh.3_Nonsense_Mutation_p.W125*|FMO3_uc010pmb.2_Nonsense_Mutation_p.W105*|FMO3_uc010pmc.2_Nonsense_Mutation_p.W62* NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 125 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTGGCCAGTGGGATGTTACC 0.398000 50 15 0 0 0.004007 0 0 SYNE2 23224 broad.mit.edu 37 14 64692153 64692153 + Missense_Mutation SNP C T T rs149036674 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:64692153C>T uc001xgl.3 + 115 20863 c.20633C>T c.(20632-20634)tCc>tTc p.S6878F SYNE2_uc001xgm.3_Missense_Mutation_p.S6856F|SYNE2_uc010apy.3_Missense_Mutation_p.S3241F|SYNE2_uc001xgn.3_Missense_Mutation_p.S1817F|SYNE2_uc021rui.1_Silent_p.L1821L|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.S826F|SYNE2_uc001xgq.3_Missense_Mutation_p.S1235F|SYNE2_uc001xgr.3_Missense_Mutation_p.S639F|SYNE2_uc010tsi.2_Missense_Mutation_p.S513F|SYNE2_uc001xgs.3_Missense_Mutation_p.S527F|SYNE2_uc001xgt.3_Missense_Mutation_p.S400F NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6856 KASH. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ctgcCCTCCTCCGAAGAAGAC 0.632000 29 9 0 0 0.006214 0 0 BSN 8927 broad.mit.edu 37 3 49698954 49698954 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:49698954A>T uc003cxe.4 + 5 9790 c.9676A>T c.(9676-9678)Aac>Tac p.N3226Y NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3226 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCTGGAGCAGAACGTTCCTCG 0.592000 81 32 0 0 0.002445 0 0 VWA7 80737 broad.mit.edu 37 6 31733506 31733506 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:31733506G>A uc011dog.2 - 16 2779 c.2541C>T c.(2539-2541)ctC>ctT p.L847L NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 847 extracellular region TGGCCGTGGTGAGGATCGGGT 0.607000 250 188 0 0 0.003610 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131777152 131777152 + Silent SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:131777152T>C uc004bww.3 - 3 512 c.366A>G c.(364-366)gaA>gaG p.E122E SH3GLB2_uc004bwv.3_Silent_p.E122E NM_020145 NP_064530 Q9NR46 SHLB2_HUMAN Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA. 122 BAR. filopodium assembly|signal transduction cytoplasm|nucleus SH3 domain binding|cytoskeletal adaptor activity NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 CCAGTTGCTTTTCAGCTTCTG 0.547000 86 56 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179640203 179640203 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:179640203C>T uc021vsy.1 - 27 6613 c.6388G>A c.(6388-6390)Gaa>Aaa p.E2130K TTN_uc021vsz.1_Missense_Mutation_p.E2084K|TTN_uc021vta.1_Missense_Mutation_p.E2084K|TTN_uc021vtb.1_Missense_Mutation_p.E2084K|TTN_uc002unb.2_Missense_Mutation_p.E2130K|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2130 Ig-like 10. 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) ACATTGTCTTCGGGCCAGTAC 0.483000 25 22 0 0 0.002299 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140187544 140187544 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:140187544G>A uc003lhi.2 + 0 873 c.772G>A c.(772-774)Gga>Aga p.G258R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G258R|PCDHAC2_uc011daa.2_Missense_Mutation_p.G258R NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 273 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCCTAATGGAACATTGGT 0.373000 49 14 0 0 0.002450 0 0 immunoglobulin_heavy_chain 0 broad.mit.edu 37 14 107034897 107034897 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:107034897C>T uc001ysz.3 - 1 212 c.183G>A c.(181-183)ggG>ggA p.G61G abParts_uc021ser.1_Non-coding_Transcript Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene. CCAGGCCTTTCCCGGGCATCT 0.562000 14 28 0 0 0.005443 0 0 KCNU1 157855 broad.mit.edu 37 8 36793381 36793381 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:36793381G>A uc010lvw.3 + 26 3480 c.3393G>A c.(3391-3393)agG>agA p.R1131R NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 1131 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity 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) AAAATGAAAGGAAAACTTCAG 0.383000 42 47 0 0 0.003610 0 0 CPZ 8532 broad.mit.edu 37 4 8616199 8616199 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:8616199G>A uc003glm.3 + 8 1651 c.1477G>A c.(1477-1479)Gag>Aag p.E493K CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.E482K|CPZ_uc003gln.3_Missense_Mutation_p.E356K NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 493 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCACAACAAGGAGTCACTCCT 0.592000 22 13 0 0 0.004007 0 0 RCOR2 283248 broad.mit.edu 37 11 63680420 63680420 + Splice_Site SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:63680420C>T uc001nyc.3 - 9 1280 c.892_splice c.e9-1 p.V298_splice NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN Homo sapiens REST corepressor 2 (RCOR2), mRNA. 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 TGCTCTGTACCTGGGAAGGCC 0.582000 7 22 0 0 0.002299 0 0 ARSJ 79642 broad.mit.edu 37 4 114824459 114824459 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:114824459C>T uc003ibq.1 - 1 1659 c.771G>A c.(769-771)aaG>aaA p.K257K ARSJ_uc010imu.1_Silent_p.K257K|ARSJ_uc010imv.1_Silent_p.K85K NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN Homo sapiens arylsulfatase family, member J (ARSJ), mRNA. 257 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) AAAATATAGGCTTTGTGGGGT 0.418000 48 21 0 0 0.008871 0 0 LRP2 4036 broad.mit.edu 37 2 170097612 170097612 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:170097612G>A uc002ues.3 - 24 4144 c.3931C>T c.(3931-3933)Cgc>Tgc p.R1311C LRP2_uc010zdf.1_Missense_Mutation_p.R1174C NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1311 LDL-receptor class A 15. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTAGGACAGCGAAAGGGCTGA 0.517000 90 26 0 0 0.003330 0 0 MED12 9968 broad.mit.edu 37 X 70352255 70352255 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:70352255G>A uc004dyy.3 + 30 4481 c.4282G>A c.(4282-4284)Gtg>Atg p.V1428M MED12_uc011mpq.1_Missense_Mutation_p.V1428M|MED12_uc004dyz.3_Missense_Mutation_p.V1428M|MED12_uc004dza.3_Missense_Mutation_p.V1275M|MED12_uc010nla.3_Missense_Mutation_p.V54M NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 1428 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TGTATGGCTGGTGGCCCCCCT 0.562000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 37 16 0 0 0.008871 0 0 C1orf173 127254 broad.mit.edu 37 1 75055424 75055424 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:75055424C>T uc001dgg.3 - 11 2286 c.2067G>A c.(2065-2067)ggG>ggA p.G689G CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G483G NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 689 Glu-rich. p.G689G(2)|p.S688Y(2)|p.G689W(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 AAACATGTTTCCCGGACTTCT 0.458000 87 39 0 0 0.005524 0 0 VN1R2 317701 broad.mit.edu 37 19 53762553 53762553 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:53762553C>T uc002qbi.2 + 0 1009 c.925C>T c.(925-927)Cct>Tct p.P309S NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 309 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CAACTCTTCTCCTGGGAACAG 0.483000 111 40 0 0 0.006230 0 0 DAB2 1601 broad.mit.edu 37 5 39377257 39377257 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:39377257G>A uc003jlx.3 - 11 2163 c.1632C>T c.(1630-1632)gtC>gtT p.V544V DAB2_uc003jlw.3_Silent_p.V523V NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 544 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TACCAAAAATGACGGGCTGAC 0.537000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 16 0 0 0.003163 0 0 NR3C2 4306 broad.mit.edu 37 4 149075791 149075791 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:149075791G>A uc003ilj.4 - 4 2639 c.2276C>T c.(2275-2277)cCa>cTa p.P759L NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 759 Steroid-binding. P -> S (in AD-PHA1). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGCTGTATCTGGTTTTGAGCT 0.493000 79 63 0 0 0.003610 0 0 SLC6A8 6535 broad.mit.edu 37 X 152954135 152954135 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:152954135G>A uc004fib.3 + 0 384 c.106G>A c.(106-108)Ggc>Agc p.G36S SLC6A8_uc004fic.3_Missense_Mutation_p.G36S|SLC6A8_uc011myx.1_5'Flank|PNCK_uc011myw.2_5'Flank|SLC6A8_uc010nui.1_5'Flank NM_005629 NP_001136278 P48029 SC6A8_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA. 36 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) cAAGGGCGACGGCCCCGTGGG 0.731000 6 6 0 0 0.001168 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064047 6064047 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:6064047C>T uc010idb.1 - 9 2038 c.1552G>A c.(1552-1554)Gag>Aag p.E518K JAKMIP1_uc010idc.1_Missense_Mutation_p.E333K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E518K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E353K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E518K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E518K NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 518 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCCGGGCCTCCCTCTCAGCG 0.662000 36 27 0 0 0.006320 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428248 128428248 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:128428248G>A uc003ysf.3 + 0 392 c.137G>A c.(136-138)gGa>gAa p.G46E LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA. 46 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 GGAGGGCCAGGAATCGGGCCG 0.692000 2 8 0 0 0.000978 0 0 TSIX 9383 broad.mit.edu 37 X 73043903 73043903 + RNA SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:73043903T>A uc004ebn.2 + 0 c.31864T>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. AGGATAAGAGTAATCAATGAT 0.323000 29 5 0 0 0.001168 0 0 PHF8 23133 broad.mit.edu 37 X 54014280 54014280 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:54014280C>T uc004dsu.3 - 14 2182 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K PHF8_uc004dsv.3_Missense_Mutation_p.E476K|PHF8_uc004dst.3_Missense_Mutation_p.E610K|PHF8_uc004dsw.3_Missense_Mutation_p.E509K|PHF8_uc004dsx.3_Missense_Mutation_p.E374K|PHF8_uc004dsy.3_Missense_Mutation_p.E610K NM_001184896 NP_055922 Q9UPP1 PHF8_HUMAN Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA. 646 G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 AAGTCAAATTCGTCTTCCATC 0.453000 24 26 0 0 0.006320 0 0 RGS9 8787 broad.mit.edu 37 17 63156360 63156360 + Missense_Mutation SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:63156360A>G uc002jfe.3 + 3 418 c.215A>G c.(214-216)aAc>aGc p.N72S RGS9_uc021ubw.1_Missense_Mutation_p.N72S|RGS9_uc010dem.3_Missense_Mutation_p.N72S|RGS9_uc002jfd.3_Missense_Mutation_p.N72S NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 72 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GAGGCACAGAACTTGGGCAAC 0.527000 37 48 0 0 0.003610 0 0 RIN3 79890 broad.mit.edu 37 14 93154591 93154591 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:93154591C>T uc001yap.3 + 9 3104 c.2952C>T c.(2950-2952)ttC>ttT p.F984F RIN3_uc010auk.3_Silent_p.F646F|RIN3_uc001yaq.3_Silent_p.F909F NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA. 984 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AGCCCAACTTCCTGTGAGGCC 0.751000 12 11 0 0 0.001368 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380788 30380788 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr21:30380788C>T uc002yms.3 - 1 309 c.222G>A c.(220-222)aaG>aaA p.K74K NM_016940 NP_058636 P57060 RWD2B_HUMAN Homo sapiens RWD domain containing 2B (RWDD2B), mRNA. 74 RWD. p.K73N(1) endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 CCTCCATTGTCTTCTTTTCAA 0.403000 63 36 0 0 0.004289 0 0 THRB 7068 broad.mit.edu 37 3 24188267 24188267 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:24188267G>A uc003ccz.4 - 7 951 c.431C>T c.(430-432)tCc>tTc p.S144F THRB_uc010hfe.3_Missense_Mutation_p.S144F|THRB_uc003ccy.4_Missense_Mutation_p.S144F|THRB_uc003ccx.4_Missense_Mutation_p.S144F NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 144 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) ATATTTACAGGAATAGGATGG 0.363000 52 14 0 0 0.002450 0 0 MYH1 4619 broad.mit.edu 37 17 10401165 10401165 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:10401165G>A uc002gmo.3 - 30 4345 c.4251C>T c.(4249-4251)tcC>tcT p.S1417S AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1417 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTTCTCAAGGGAAGCACATT 0.478000 64 25 0 0 0.003954 0 0 HGSNAT 138050 broad.mit.edu 37 8 43046651 43046651 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:43046651C>T uc003xpx.4 + 11 1211 c.1163C>T c.(1162-1164)tCc>tTc p.S388F NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. 416 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GACATCACGTCCAGCTGGCCC 0.557000 86 96 0 0 0.003610 0 0 CDK5R2 8941 broad.mit.edu 37 2 219825520 219825520 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:219825520G>A uc002vjf.3 + 0 1123 c.978G>A c.(976-978)aaG>aaA p.K326K NM_003936 NP_003927 Q13319 CD5R2_HUMAN Homo sapiens cyclin-dependent kinase 5, regulatory subunit 2 (p39) (CDK5R2), mRNA. 326 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGACCTCAAGAACGAGGGCG 0.736000 17 20 0 0 0.007413 0 0 OR5L2 26338 broad.mit.edu 37 11 55595525 55595525 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:55595525C>T uc001nhy.1 + 0 831 c.831C>T c.(829-831)ttC>ttT p.F277F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CCACCGTGTTCTACACAGTTG 0.468000 HNSCC(27;0.073) 8 44 0 0 0.002522 0 0 C14orf133 63894 broad.mit.edu 37 14 77894796 77894796 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:77894796G>A uc001xtt.2 - 19 1795 c.1378C>T c.(1378-1380)Cgt>Tgt p.R460C C14orf133_uc001xtu.2_Missense_Mutation_p.R460C|C14orf133_uc001xtv.2_Missense_Mutation_p.R460C|C14orf133_uc021rwu.1_Missense_Mutation_p.R460C|C14orf133_uc010tvj.2_Missense_Mutation_p.R411C NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA. 460 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AACTGTTGACGATCCTTCAGG 0.478000 23 16 0 0 0.008871 0 0 KCNB2 9312 broad.mit.edu 37 8 73848346 73848346 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:73848346C>T uc003xzb.3 + 2 1344 c.756C>T c.(754-756)ttC>ttT p.F252F NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 252 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.R251L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TTTTGCGATTCTTATCCTCAC 0.443000 63 27 0 0 0.004656 0 0 NPIP 9284 broad.mit.edu 37 16 15045785 15045785 + Nonsense_Mutation SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:15045785C>G uc002dcy.4 + 7 956 c.956C>G c.(955-957)tCa>tGa p.S319* NPIP_uc002dcx.4_Non-coding_Transcript NM_006985 NP_008916 Q9UND3 NPIP_HUMAN Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA. 319 Pro-rich. mRNA transport|protein transport|transmembrane transport nuclear membrane|nuclear pore CTTCCACCCTCAGCTCCACCC 0.542000 81 18 0 0 0.001523 0 0 ZNF222 7673 broad.mit.edu 37 19 44537123 44537123 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:44537123G>A uc002oye.3 + 3 1511 c.1416G>A c.(1414-1416)aaG>aaA p.K472K ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Silent_p.K432K|ZNF222_uc002oyd.3_Silent_p.K378K NM_001129996 NP_001123468 Q9UK12 ZN222_HUMAN Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA. 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) ACTGTGGGAAGCGCTACAAGA 0.373000 35 9 0 0 0.004482 0 0 ALDH2 217 broad.mit.edu 37 12 112235912 112235912 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:112235912G>A uc001tst.3 + 9 1210 c.1114G>A c.(1114-1116)Ggc>Agc p.G372S ALDH2_uc010syi.2_Missense_Mutation_p.G325S NM_000690 NP_000681 P05091 ALDH2_HUMAN Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 372 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) GAAGATCCTCGGCTACATCAA 0.527000 T HMGA2 leiomyoma 110 10 0 0 0.000978 0 0 TNXB 7148 broad.mit.edu 37 6 32049835 32049836 + Missense_Mutation DNP GG AA AA TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:32049835_32049836GG>AA uc003nzl.2 - 8 3915_3916 c.3713_3714CC>TT c.(3712-3714)ccc>cTT p.P1238L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1325 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGGCCGTGAGGGGGCCATACCG 0.574000 244 155 0 0 0.004672 0 0 OXR1 55074 broad.mit.edu 37 8 107705019 107705019 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:107705019C>T uc011lht.2 + 5 691 c.592C>T c.(592-594)Cga>Tga p.R198* OXR1_uc022azp.1_Nonsense_Mutation_p.R197*|OXR1_uc003ymf.3_Nonsense_Mutation_p.R197*|OXR1_uc011lhu.2_Nonsense_Mutation_p.R190*|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Nonsense_Mutation_p.R130*|OXR1_uc003ymi.1_Nonsense_Mutation_p.R109* NM_001198532 NP_001185461 Q8N573 OXR1_HUMAN Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA. 198 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TCGACCTGCACGAGTTGTATC 0.348000 46 13 0 0 0.003163 0 0 SCAF1 58506 broad.mit.edu 37 19 50158054 50158054 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:50158054C>T uc002poq.3 + 8 3669 c.3545C>T c.(3544-3546)cCc>cTc p.P1182L NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 1182 RNA splicing|mRNA processing nucleus RNA binding p.T1181P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCCCCCACCCCCACCGGGCTG 0.697000 22 32 0 0 0.001786 0 0 C12orf50 160419 broad.mit.edu 37 12 88376933 88376933 + Missense_Mutation SNP C T T rs145797004 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:88376933C>T uc001tam.1 - 11 1334 c.1166G>A c.(1165-1167)cGa>cAa p.R389Q NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 389 p.W388R(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 AATTCGTTTTCGCCAGGCTGA 0.279000 57 47 0 0 0.003610 0 0 DLEC1 9940 broad.mit.edu 37 3 38087060 38087060 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:38087060G>A uc003chp.1 + 1 459 c.438G>A c.(436-438)ctG>ctA p.L146L DLEC1_uc003cho.1_Silent_p.L146L|DLEC1_uc010hgv.1_Silent_p.L146L NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 146 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGCAGCGGCTGGATGAGTTTG 0.498000 56 29 0 0 0.007291 0 0 abParts 0 broad.mit.edu 37 14 107095544 107095544 + RNA SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:107095544G>A uc021ser.1 - 112 c.4952C>T Parts of antibodies, mostly variable regions. GGAGGAGGAAGAACCACAGGT 0.527000 60 4 0 0 0.001168 0 0 NLRP4 147945 broad.mit.edu 37 19 56369277 56369277 + Missense_Mutation SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:56369277C>G uc002qmd.4 + 2 940 c.518C>G c.(517-519)tCg>tGg p.S173W NLRP4_uc002qmf.3_Missense_Mutation_p.S98W|NLRP4_uc010etf.3_Missense_Mutation_p.S4W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 173 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGGCCTGGTCGGACAACAAG 0.498000 67 71 0 0 0.003610 0 0 STAB1 23166 broad.mit.edu 37 3 52542315 52542315 + Silent SNP C T T rs148343623 by1000genomes TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:52542315C>T uc003dej.3 + 20 2249 c.2175C>T c.(2173-2175)ttC>ttT p.F725F STAB1_uc003dei.1_Silent_p.F725F NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 725 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AAGGTTTTTTCGGGCCTGACT 0.587000 66 19 0 0 0.008871 0 0 COL24A1 255631 broad.mit.edu 37 1 86375686 86375686 + Splice_Site SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:86375686C>T uc001dlj.3 - 26 2692 c.2617_splice c.e26-1 p.G873_splice COL24A1_uc001dli.3_Splice_Site_p.G9_splice|COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site_p.G173_splice|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 873 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCACGTTCTCCCTTTTAAGAG 0.383000 110 50 0 0 0.003610 0 0 FAM123B 139285 broad.mit.edu 37 X 63412416 63412416 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:63412416C>T uc022byb.1 - 0 751 c.751G>A c.(751-753)Gag>Aag p.E251K FAM123B_uc004dvo.3_Missense_Mutation_p.E251K NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 251 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 GCCATTTTCTCAGTAGCTGGT 0.537000 172 45 0 0 0.003610 0 0 TSR2 90121 broad.mit.edu 37 X 54470529 54470529 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:54470529G>A uc004dte.3 + 3 355 c.353G>A c.(352-354)aGa>aAa p.R118K TSR2_uc004dtf.3_Missense_Mutation_p.R23K NM_058163 NP_477511 Q969E8 TSR2_HUMAN Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA. 118 rRNA processing protein binding breast(1)|endometrium(3)|lung(2) 6 ATCACTCAGAGAAAATGCAAG 0.522000 101 31 0 0 0.001786 0 0 CSMD1 64478 broad.mit.edu 37 8 2836281 2836281 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:2836281G>A uc022aqr.1 - 54 8809 c.8419C>T c.(8419-8421)Cgt>Tgt p.R2807C CSMD1_uc011kwj.2_Missense_Mutation_p.R2137C|CSMD1_uc010lrg.3_Missense_Mutation_p.R818C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2808 Sushi 20. integral to membrane p.R2807C(1)|p.R2536C(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) TGCCCGTGACGAATGGCATTT 0.403000 7 15 0 0 0.006122 0 0 MCHR2 84539 broad.mit.edu 37 6 100368907 100368907 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:100368907C>T uc003pqh.1 - 5 1247 c.932G>A c.(931-933)gGa>gAa p.G311E MCHR2_uc003pqi.1_Missense_Mutation_p.G311E NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 311 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGGAAATTTCCACTCAGCAG 0.443000 94 52 0 0 0.003610 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919598 54919598 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:54919598G>A uc003dhf.3 + 22 2089 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E587K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E415K|AK092143_uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 681 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity 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) AAAAGGCAAAGAACCTCTGCT 0.468000 20 9 0 0 0.006214 0 0 RGAG4 340526 broad.mit.edu 37 X 71350311 71350311 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:71350311C>T uc010nlh.2 - 0 1080 c.1080G>A c.(1078-1080)aaG>aaA p.K360K NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Silent_p.K360K NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA. 360 p.E360*(1) cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TCCTCTGGTCCTTGGAGTGAA 0.493000 9 20 0 0 0.007413 0 0 FAT3 120114 broad.mit.edu 37 11 92507292 92507292 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:92507292C>T uc001pdj.4 + 5 4298 c.4281C>T c.(4279-4281)tcC>tcT p.S1427S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1427 Cadherin 13. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCAGAGGTCCATCTATAATA 0.448000 TCGA Ovarian(4;0.039) 206 101 0 0 0.003610 0 0 COL5A2 1290 broad.mit.edu 37 2 189957116 189957116 + Missense_Mutation SNP C G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:189957116C>G uc002uqk.3 - 6 762 c.487G>C c.(487-489)Gaa>Caa p.E163Q NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 163 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.G162R(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACACCTGGTTCTCCATCAATT 0.517000 13 5 0 0 0.001168 0 0 PLCL2 23228 broad.mit.edu 37 3 17052315 17052315 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:17052315C>T uc011awc.2 + 2 1549 c.1453C>T c.(1453-1455)Cag>Tag p.Q485* PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Nonsense_Mutation_p.Q367* NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 493 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R485Q(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CATGACCTCTCAGATAGTTTT 0.398000 35 27 0 0 0.004656 0 0 CHD4 1108 broad.mit.edu 37 12 6707398 6707398 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:6707398G>A uc001qpo.3 - 10 1840 c.1676C>T c.(1675-1677)tCt>tTt p.S559F CHD4_uc001qpn.3_Missense_Mutation_p.S552F|CHD4_uc001qpp.3_Missense_Mutation_p.S556F NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 559 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTGCAGTTCAGAAACCCAGGA 0.517000 168 48 0 0 0.003610 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562836 11562836 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:11562836C>T uc001ash.4 + 2 1336 c.1198C>T c.(1198-1200)Ctg>Ttg p.L400L PTCHD2_uc001asi.1_Silent_p.L400L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 400 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.L617M(1)|p.P400T(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CAGTGAGATCCTGTTTGGAGC 0.562000 26 17 0 0 0.004007 0 0 IL16 3603 broad.mit.edu 37 15 81591938 81591939 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:81591938_81591939CC>TT uc021ssh.1 + 12 2372_2373 c.2271_2272CC>TT c.(2269-2274)acccca>acTTca p.P758S IL16_uc010blq.1_Missense_Mutation_p.P712S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P800S|IL16_uc002bgg.3_Missense_Mutation_p.P758S|IL16_uc002bgi.1_Missense_Mutation_p.P148S|IL16_uc002bgj.3_Missense_Mutation_p.P252S|IL16_uc021ssi.1_Missense_Mutation_p.P57S|IL16_uc002bgl.1_Missense_Mutation_p.P57S|IL16_uc010unq.1_Missense_Mutation_p.P57S NM_172217 NP_757366 Q14005 IL16_HUMAN Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA. 758 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CAGATGGGACCCCACCAAAGCT 0.554000 85 21 0 0 0.004672 0 0 DGKG 1608 broad.mit.edu 37 3 185969598 185969598 + Missense_Mutation SNP C T T rs79928844 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:185969598C>T uc003fqa.3 - 18 2248 c.1711G>A c.(1711-1713)Ggg>Agg p.G571R DGKG_uc003fqb.3_Missense_Mutation_p.G532R|DGKG_uc003fqc.3_Missense_Mutation_p.G546R|DGKG_uc011brx.2_Missense_Mutation_p.G512R NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 571 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACCTGGTCCCCGTTTTCCACT 0.507000 76 25 0 0 0.005443 0 0 FOXD4L5 653427 broad.mit.edu 37 9 70177128 70177128 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:70177128C>T uc010moc.3 - 0 1688 c.856G>A c.(856-858)Gaa>Aaa p.E286K NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA. 286 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex 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 activator activity|transcription factor binding endometrium(5)|lung(2) 7 TCCGCGCCTTCTGCTTTCTTC 0.687000 48 36 0 0 0.003610 0 0 ATP4B 496 broad.mit.edu 37 13 114307750 114307750 + Splice_Site SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:114307750C>T uc001vtz.3 - 3 296 c.242_splice c.e3-1 p.G81_splice ATP4B_uc010agy.2_Splice_Site_p.G81_splice NM_000705 NP_000696 P51164 ATP4B_HUMAN Homo sapiens ATPase, H+/K+ exchanging, beta polypeptide (ATP4B), mRNA. 81 ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) AAGGTTACCCCTGGAGAGAGA 0.522000 38 30 0 0 0.008361 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351221 60351221 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:60351221C>T uc002izq.2 - 2 206 c.94G>A c.(94-96)Gag>Aag p.E32K TBC1D3P2_uc010woz.2_Non-coding_Transcript Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 CCCTTGTCCTCTGGCAGCCCA 0.597000 105 130 0 0 0.003610 0 0 CCNJL 79616 broad.mit.edu 37 5 159686747 159686747 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:159686747G>A uc003lyb.1 - 4 708 c.456C>T c.(454-456)ccC>ccT p.P152P CCNJL_uc011dee.1_Silent_p.P104P|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.P104P NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN Homo sapiens cyclin J-like (CCNJL), mRNA. 152 Cyclin N-terminal. nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTCCAACTTGGGGACGTGGT 0.567000 66 23 0 0 0.003330 0 0 SPTBN4 57731 broad.mit.edu 37 19 41062007 41062007 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:41062007G>A uc002ony.3 + 24 5188 c.5102G>A c.(5101-5103)cGg>cAg p.R1701Q SPTBN4_uc002onx.3_Missense_Mutation_p.R1701Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1701Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R444Q|SPTBN4_uc002ooa.3_Missense_Mutation_p.R377Q NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1701 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATCAGCCGGCGGCAGTCTCAG 0.667000 14 20 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13776728 13776728 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:13776728G>A uc003jfd.2 - 54 9235 c.9193C>T c.(9193-9195)Cct>Tct p.P3065S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3065 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCATTGGTAGGAAGGCACCTG 0.443000 Kartagener syndrome 46 40 0 0 0.007835 0 0 GRIK3 2899 broad.mit.edu 37 1 37282688 37282688 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:37282688C>T uc001caz.2 - 12 2199 c.2064G>A c.(2062-2064)aaG>aaA p.K688K GRIK3_uc001cba.1_Silent_p.K688K NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 688 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGCCCCATCCTTGACAGCCC 0.557000 28 14 0 0 0.003163 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152185 151152185 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:151152185T>A uc011eem.1 + 14 2203 c.2115T>A c.(2113-2115)ttT>ttA p.F705L PLEKHG1_uc011eel.1_Missense_Mutation_p.F686L|PLEKHG1_uc003qny.1_Missense_Mutation_p.F646L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.F646L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 646 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TGACTCCCTTTGGGTCATCCA 0.458000 12 20 0 0 0.007413 0 0 LOC283867 283867 broad.mit.edu 37 16 65397140 65397140 + RNA SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:65397140G>A uc010cdo.1 - 1 c.201C>T LOC283867_uc010cdp.1_Non-coding_Transcript|LOC283867_uc002eol.1_Non-coding_Transcript Homo sapiens uncharacterized LOC283867 (LOC283867), non-coding RNA. OV - Ovarian serous cystadenocarcinoma(108;0.17) GACAGTCATTGAACACAGTAG 0.398000 61 37 0 0 0.006999 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5240004 5240004 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:5240004C>T uc003jdl.3 + 15 2627 c.2489C>T c.(2488-2490)gCt>gTt p.A830V ADAMTS16_uc003jdk.1_Missense_Mutation_p.A830V NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 830 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AACTTAATCGCTACTGGACCA 0.507000 54 75 0 0 0.003610 0 0 ATP1A4 480 broad.mit.edu 37 1 160141494 160141494 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:160141494C>T uc001fve.4 + 11 2280 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.P104S NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 601 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATTGACCCTCCCCGAGCTGC 0.488000 84 139 0 0 0.003610 0 0 SUGP1 57794 broad.mit.edu 37 19 19408023 19408023 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:19408023G>A uc002nmh.3 - 7 1034 c.1018C>T c.(1018-1020)Cct>Tct p.P340S SUGP1_uc002nmf.3_5'UTR|SUGP1_uc002nmg.3_5'UTR|SUGP1_uc002nmi.3_Missense_Mutation_p.P130S|SUGP1_uc002nmj.3_Missense_Mutation_p.P130S|SUGP1_uc010xqr.2_Non-coding_Transcript NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA. 340 Pro-rich. nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 AGGGCCTCAGGAGGGGACTTG 0.657000 52 54 0 0 0.003610 0 0 TC2N 123036 broad.mit.edu 37 14 92268739 92268739 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:92268739G>A uc001xzu.4 - 3 519 c.328C>T c.(328-330)Cga>Tga p.R110* TC2N_uc001xzt.4_Nonsense_Mutation_p.R110*|TC2N_uc010auc.3_Nonsense_Mutation_p.R110*|TC2N_uc001xzv.4_Nonsense_Mutation_p.R110* NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 110 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TCTACCTTTCGATCTCCAAAA 0.418000 33 9 0 0 0.008291 0 0 MYOCD 93649 broad.mit.edu 37 17 12656451 12656451 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:12656451G>A uc002gno.2 + 9 2145 c.1846G>A c.(1846-1848)Gag>Aag p.E616K MYOCD_uc002gnn.2_Missense_Mutation_p.E616K|MYOCD_uc002gnp.1_Missense_Mutation_p.E520K|MYOCD_uc002gnq.2_Missense_Mutation_p.E335K NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 616 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCATTGTGTGGAGTCCTCAGA 0.517000 111 47 0 0 0.003610 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482688 76482688 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:76482688C>T uc002fex.1 + 4 915 c.776C>T c.(775-777)tCc>tTc p.S259F CNTNAP4_uc002feu.1_Missense_Mutation_p.S255F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S168F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S231F|CNTNAP4_uc002few.2_Missense_Mutation_p.S231F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 256 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CCTTCCACTTCCACCCTGGTC 0.463000 15 3 0 0 0.004672 0 0 CYP4F2 8529 broad.mit.edu 37 19 15997107 15997107 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:15997107C>T uc002nbs.1 - 7 980 c.930G>A c.(928-930)ggG>ggA p.G310G CYP4F2_uc010xot.1_Silent_p.G161G|CYP4F2_uc010xou.1_Intron NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 310 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATAACTTCTTCCCGTCTTCAT 0.532000 178 62 0 0 0.003610 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460435 110460435 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:110460435C>T uc003yne.3 + 38 5944 c.5840C>T c.(5839-5841)tCc>tTc p.S1947F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1947 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGGAAATCTCCGTGATGATA 0.393000 HNSCC(38;0.096) 20 7 0 0 0.003080 0 0 FPR3 2359 broad.mit.edu 37 19 52327535 52327535 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:52327535C>T uc002pxt.1 + 1 718 c.534C>T c.(532-534)ttC>ttT p.F178F FPR3_uc021uyq.1_Silent_p.F178F NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 178 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 ACTGTATTTTCAACTTTGCAT 0.433000 72 51 0 0 0.003610 0 0 MYH15 22989 broad.mit.edu 37 3 108117669 108117669 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:108117669C>T uc003dxa.1 - 35 5065 c.5008G>A c.(5008-5010)Gat>Aat p.D1670N NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1670 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.D1670H(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GTGCTGTCATCCAGCTGCATT 0.498000 124 43 0 0 0.007835 0 0 DPYS 1807 broad.mit.edu 37 8 105459605 105459605 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:105459605C>T uc003yly.4 - 2 679 c.550G>A c.(550-552)Gaa>Aaa p.E184K NM_001385 NP_001376 Q14117 DPYS_HUMAN Homo sapiens dihydropyrimidinase (DPYS), mRNA. 184 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCTCCAATTTCCTTGCACCGA 0.443000 44 12 0 0 0.001855 0 0 WTIP 126374 broad.mit.edu 37 19 34983992 34983992 + Missense_Mutation SNP T G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:34983992T>G uc002nvm.3 + 2 820 c.820T>G c.(820-822)Tgc>Ggc p.C274G NM_001080436 NP_001073905 Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA. NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAAAGTGTACTGCCAGGAGGA 0.627000 59 52 0 0 0.003610 0 0 JMJD4 65094 broad.mit.edu 37 1 227921164 227921165 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:227921164_227921165CC>TT uc001hrb.3 - 3 910_911 c.910_911GG>AA c.(910-912)ggc>AAc p.G304N SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|SNAP47_uc001hqx.4_Non-coding_Transcript|SNAP47_uc001hqy.4_Non-coding_Transcript|JMJD4_uc001hrc.3_Missense_Mutation_p.G304N NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA. 304 JmjC. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) CACCATCTCGCCCGCTTCCTGC 0.624000 24 31 0 0 0.004672 0 0 MYOM2 9172 broad.mit.edu 37 8 2057234 2057234 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:2057234G>A uc003wpx.4 + 24 3230 c.3092G>A c.(3091-3093)cGg>cAg p.R1031Q MYOM2_uc011kwi.2_Missense_Mutation_p.R456Q NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1031 muscle contraction myosin filament structural constituent of muscle p.R1031R(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GATAAGGGGCGGGTTCGCTTC 0.443000 22 28 0 0 0.006320 0 0 FTSJD2 23070 broad.mit.edu 37 6 37438796 37438796 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:37438796G>A uc003ons.3 + 14 1759 c.1506_splice c.e14-1 p.S502_splice NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA. 502 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 TTTTCTTCTAGCCACTGTAGT 0.413000 51 11 0 0 0.000978 0 0 PCDH18 54510 broad.mit.edu 37 4 138451538 138451538 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:138451538C>T uc003ihe.4 - 0 2092 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K PCDH18_uc003ihf.4_Missense_Mutation_p.E562K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E349K|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 569 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTGTCATTTTCGTCAATGATG 0.458000 90 53 0 0 0.003610 0 0 MYPN 84665 broad.mit.edu 37 10 69902729 69902729 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:69902729C>T uc001jnm.4 + 3 1120 c.935C>T c.(934-936)tCc>tTc p.S312F MYPN_uc001jnl.1_Missense_Mutation_p.S312F|MYPN_uc001jnn.4_Missense_Mutation_p.S37F|MYPN_uc001jno.4_Missense_Mutation_p.S312F|MYPN_uc001jnp.1_Missense_Mutation_p.S312F|MYPN_uc009xps.3_Missense_Mutation_p.S312F|MYPN_uc009xpt.3_Missense_Mutation_p.S312F|MYPN_uc010qit.2_Missense_Mutation_p.S18F|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 312 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CTTGAAAATTCCCCAGATATT 0.468000 13 40 0 0 0.008740 0 0 IL6R 3570 broad.mit.edu 37 1 154408531 154408531 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:154408531C>T uc001fez.2 + 5 1331 c.894C>T c.(892-894)ttC>ttT p.F298F IL6R_uc021paf.1_Silent_p.F298F|IL6R_uc001ffa.2_Silent_p.F298F NM_000565 NP_000556 P08887 IL6RA_HUMAN Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA. 298 Fibronectin type-III. acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGGAGGAGTTCGGGCAAGGCG 0.642000 91 18 0 0 0.008871 0 0 RNF5P1 286140 broad.mit.edu 37 8 38458541 38458541 + Missense_Mutation SNP G C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:38458541G>C uc003xly.3 - 0 235 c.178C>G c.(178-180)Cgg>Ggg p.R60G Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA. CACTCTTGCCGTTCTGGCCGT 0.532000 237 8 0 0 0.004482 0 0 OR2B2 81697 broad.mit.edu 37 6 27879786 27879786 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:27879786G>A uc011dkw.2 - 0 389 c.312C>T c.(310-312)ttC>ttT p.F104F NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 CCAAGGCCAGGAAAATGAAAA 0.448000 41 30 0 0 0.008361 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55354367 55354367 + Missense_Mutation SNP A G G rs1130508 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:55354367A>G uc002qhm.1 + 5 731 c.685A>G c.(685-687)Aaa>Gaa p.K229E KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Intron|KIR3DL2_uc002qhn.1_Intron NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 332 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) ACCAAGCTCCAAAACCGGTGA 0.507000 79 5 0 0 0.000602 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G T T rs149004156 by1000genomes TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:320606G>T uc001lpa.2 - 0 309 c.208C>A c.(208-210)Ccc>Acc p.P70T BC040735_uc001loz.3_Intron NM_021034 NP_066362 Q01628 IFM3_HUMAN Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA. 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(6) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 94 6 3.86212e-05 6.37934e-05 0.008291 1 0 SYT3 84258 broad.mit.edu 37 19 51133395 51133395 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:51133395C>T uc002pst.3 - 2 1342 c.708G>A c.(706-708)caG>caA p.Q236Q SYT3_uc002psv.3_Silent_p.Q236Q|SYT3_uc010ycd.2_Silent_p.Q236Q NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 236 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) AGGTCAGAGTCTGCTGGGTGA 0.642000 18 18 0 0 0.004990 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35512625 35512625 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:35512625C>T uc010xsf.1 + 14 1625 c.1625C>T c.(1624-1626)tCt>tTt p.S542F GRAMD1A_uc010xse.1_Missense_Mutation_p.S537F|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S530F|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S303F|GRAMD1A_uc002nxn.1_Missense_Mutation_p.S152F NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA. 537 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGAAGCTGTCTCTGGAGGAA 0.697000 45 32 0 0 0.003755 0 0 SYNE1 23345 broad.mit.edu 37 6 152576738 152576738 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:152576738G>A uc021zhb.1 - 100 19471 c.19248C>T c.(19246-19248)ctC>ctT p.L6416L SYNE1_uc003qos.4_Silent_p.L940L|SYNE1_uc003qot.4_Silent_p.L6345L|SYNE1_uc003qou.4_Silent_p.L6416L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6416 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTGGTTGAAGAGACAAGTCT 0.383000 HNSCC(10;0.0054) 34 26 0 0 0.004656 0 0 CTCFL 140690 broad.mit.edu 37 20 56078638 56078638 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:56078638G>A uc010giw.1 - 9 1805 c.1694C>T c.(1693-1695)tCg>tTg p.S565L CTCFL_uc010gix.1_Missense_Mutation_p.S565L|CTCFL_uc002xym.2_Missense_Mutation_p.S565L|CTCFL_uc010gjb.1_Missense_Mutation_p.S565L|CTCFL_uc010gja.1_Missense_Mutation_p.S515L|CTCFL_uc010gjc.1_Missense_Mutation_p.S565L|CTCFL_uc010gjd.1_Missense_Mutation_p.S565L|CTCFL_uc010gje.3_Missense_Mutation_p.S565L|CTCFL_uc010gjg.3_Missense_Mutation_p.S297L|CTCFL_uc010gjf.3_Missense_Mutation_p.S360L|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 565 DNA methylation involved in gamete generation|cell cycle|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 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) ACACTTCTCCGAATGTCTGTG 0.547000 62 22 0 0 0.003954 0 0 RMI2 116028 broad.mit.edu 37 16 11444533 11444533 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:11444533C>T uc002daw.1 + 1 348 c.330C>T c.(328-330)gcC>gcT p.A110A RMI2_uc002daq.1_Non-coding_Transcript NM_152308 NP_689521 Q96E14 RMI2_HUMAN Homo sapiens RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae) (RMI2), mRNA. 110 DNA replication nucleus DNA binding endometrium(1)|kidney(1)|ovary(1) 3 TGGTTCAGGCCTGCAGCCCTG 0.433000 163 21 0 0 0.002299 0 0 DCC 1630 broad.mit.edu 37 18 50961561 50961561 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:50961561G>A uc002lfe.2 + 21 3827 c.3211G>A c.(3211-3213)Gat>Aat p.D1071N DCC_uc010dpf.2_Missense_Mutation_p.D706N NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1071 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TAATTTGATTGATAGAAGCAC 0.328000 115 114 0 0 0.003610 0 0 ATP2B2 491 broad.mit.edu 37 3 10417121 10417121 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:10417121G>A uc003bvt.3 - 10 1848 c.1409C>T c.(1408-1410)tCg>tTg p.S470L ATP2B2_uc003bvv.3_Missense_Mutation_p.S425L|ATP2B2_uc003bvw.3_Missense_Mutation_p.S425L|ATP2B2_uc010hdo.3_Missense_Mutation_p.S175L NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 470 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CACCTTCACCGAATAGGCCAA 0.627000 55 19 0 0 0.007413 0 0 C15orf33 196951 broad.mit.edu 37 15 49659751 49659751 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:49659751C>T uc001zxl.2 - 12 1459 c.1165G>A c.(1165-1167)Ggt>Agt p.G389S NM_152647 NP_689860 Q96M60 CO033_HUMAN Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA. 389 endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 25 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) GGACTCTGACCTCCAAAATTG 0.353000 22 33 0 0 0.001786 0 0 KIAA1609 57707 broad.mit.edu 37 16 84529504 84529504 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:84529504C>T uc002fib.3 - 2 276 c.169G>A c.(169-171)Gct>Act p.A57T KIAA1609_uc010vod.2_Missense_Mutation_p.A30T NM_020947 NP_065998 Q6P9B6 K1609_HUMAN Homo sapiens KIAA1609 (KIAA1609), mRNA. 57 protein binding endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2) 18 GGGGGAAGAGCTTCCCCGACG 0.527000 74 45 0 0 0.003610 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146017869 146017869 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:146017869C>T uc011dbv.2 - 7 1172 c.909G>A c.(907-909)ggG>ggA p.G303G PPP2R2B_uc010jgm.3_Silent_p.G234G|PPP2R2B_uc003loe.3_Silent_p.G245G|PPP2R2B_uc003log.4_Silent_p.G245G|PPP2R2B_uc003lof.4_Silent_p.G245G|PPP2R2B_uc003loi.4_Silent_p.G248G|PPP2R2B_uc003loh.4_Silent_p.G245G|PPP2R2B_uc003lok.4_Silent_p.G234G|PPP2R2B_uc003loj.4_Silent_p.G225G|PPP2R2B_uc011dbu.2_Silent_p.G251G NM_181675 NP_858061 Q00005 2ABB_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA. 245 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCGGATTGTCCCTTTGCTGC 0.582000 37 19 0 0 0.001523 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314461 25314461 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:25314461C>T uc003grl.4 + 0 66 c.30C>T c.(28-30)gcC>gcT p.A10A NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA. 10 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) GGTTTGAAGCCGTGGAGGCAG 0.652000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 60 0 0 0.003610 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058665 152058665 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:152058665C>T uc001ezo.1 - 2 1558 c.1493G>A c.(1492-1494)aGa>aAa p.R498K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 498 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATCTTGTGTTCTTTCTCTTGC 0.483000 94 208 0 0 0.003610 0 0 CELSR3 1951 broad.mit.edu 37 3 48698609 48698609 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:48698609C>T uc003cuf.1 - 2 1669 c.1669G>A c.(1669-1671)Gag>Aag p.E557K CELSR3_uc003cul.3_Missense_Mutation_p.E487K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 487 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGATCAATCTCGAAGGCGGCG 0.697000 1 8 0 0 0.003080 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260630 1260630 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:1260630C>T uc002cks.3 + 19 4265 c.4017C>T c.(4015-4017)ttC>ttT p.F1339F CACNA1H_uc002ckt.3_Silent_p.F1339F|CACNA1H_uc002cku.3_Silent_p.F45F|CACNA1H_uc010brj.3_Silent_p.F45F|CACNA1H_uc002ckv.3_Silent_p.F45F NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1339 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGGCCATCTTCGTGGCGGAGA 0.677000 23 14 0 0 0.004990 0 0 TRIM46 80128 broad.mit.edu 37 1 155149757 155149757 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:155149757G>A uc001fhs.1 + 4 983 c.900G>A c.(898-900)agG>agA p.R300R TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Silent_p.R287R|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Silent_p.R300R|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.R174R|TRIM46_uc001fhu.1_Silent_p.R277R|TRIM46_uc009wpg.1_Silent_p.R287R|TRIM46_uc001fhw.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 300 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGGCCGTGAGGCACACCGAGG 0.602000 33 70 0 0 0.003610 0 0 DMXL2 23312 broad.mit.edu 37 15 51772994 51772994 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr15:51772994G>A uc010ufy.2 - 23 6534 c.6309C>T c.(6307-6309)tcC>tcT p.S2103S DMXL2_uc002abd.3_Silent_p.S173S|DMXL2_uc002abf.3_Silent_p.S2103S|DMXL2_uc010bfa.3_Silent_p.S1467S NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 2103 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTCTACTTTGGAATATGTCT 0.378000 56 52 0 0 0.003610 0 0 C7orf62 219557 broad.mit.edu 37 7 88424233 88424233 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:88424233C>T uc003ujv.3 - 1 206 c.24G>A c.(22-24)caG>caA p.Q8Q ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.Q8Q NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA. 8 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGCTGCCCTTCTGGTTATGGA 0.423000 102 28 0 0 0.001786 0 0 ACACB 32 broad.mit.edu 37 12 109623461 109623461 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:109623461C>T uc001tob.3 + 11 2015 c.1896C>T c.(1894-1896)ccC>ccT p.P632P ACACB_uc001toc.3_Silent_p.P632P NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 632 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 Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GAGTGACTCCCATTTCTTTTG 0.567000 22 26 0 0 0.006320 0 0 abParts 0 broad.mit.edu 37 14 106725222 106725222 + RNA SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr14:106725222C>T uc021ser.1 - 927 c.22290G>A Parts of antibodies, mostly variable regions. AATATACGGCCGTGTCCTCGG 0.547000 274 41 0 0 0.002852 0 0 PUS7 54517 broad.mit.edu 37 7 105135651 105135651 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:105135651G>A uc010lji.3 - 5 806 c.798C>T c.(796-798)ttC>ttT p.F266F PUS7_uc003vcx.3_Silent_p.F260F|PUS7_uc003vcy.3_Silent_p.F260F|PUS7_uc003vcz.1_Silent_p.F260F NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA. 260 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TATATAGTACGAAGTGGCAGT 0.318000 131 38 0 0 0.006999 0 0 NOD2 64127 broad.mit.edu 37 16 50744993 50744993 + Missense_Mutation SNP C T T rs104895481 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:50744993C>T uc002egm.1 + 3 1276 c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C NOD2_uc021tia.1_Missense_Mutation_p.R223C|NOD2_uc010cbk.1_Missense_Mutation_p.R364C|NOD2_uc002egl.1_Missense_Mutation_p.R169C|NOD2_uc010cbl.1_Missense_Mutation_p.R169C|NOD2_uc010cbm.1_Missense_Mutation_p.R169C|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 391 NACHT. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GTTCACGGATCGTGAACGCCA 0.547000 54 48 0 0 0.003610 0 0 PREX2 80243 broad.mit.edu 37 8 68989633 68989633 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:68989633G>A uc003xxv.1 + 15 1597 c.1570_splice c.e15-1 p.G524_splice PREX2_uc003xxu.1_Splice_Site_p.G524_splice|PREX2_uc011lez.1_Splice_Site_p.G459_splice NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 524 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGTTAACAGGGAGATTGCCGC 0.448000 63 14 0 0 0.002450 0 0 DOCK3 1795 broad.mit.edu 37 3 51352435 51352435 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:51352435C>T uc011bds.2 + 31 3301 c.3278C>T c.(3277-3279)cCg>cTg p.P1093L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1093 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CACTTTATTCCGGGAATGATT 0.453000 15 5 0 0 0.001168 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761987 130761987 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:130761987C>T uc003qcb.3 + 1 2798 c.420C>T c.(418-420)ttC>ttT p.F140F TMEM200A_uc003qca.3_Silent_p.F140F|TMEM200A_uc010kfh.3_Silent_p.F140F|TMEM200A_uc010kfi.3_Silent_p.F140F|TMEM200A_uc021zfg.1_Silent_p.F140F NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 140 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTTTCATTTTCATTTGTGCTA 0.413000 7 25 0 0 0.003330 0 0 DRGX 644168 broad.mit.edu 37 10 50594829 50594829 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:50594829C>T uc010qgq.2 - 3 325 c.325G>A c.(325-327)Gag>Aag p.E109K DRGX_uc021pqd.1_Missense_Mutation_p.E104K NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 109 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GCCATGGGCTCCTTGGCTCCT 0.592000 26 74 0 0 0.003610 0 0 TRIM67 440730 broad.mit.edu 37 1 231335968 231335968 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:231335968G>A uc009xfn.1 + 3 1380 c.1338G>A c.(1336-1338)gaG>gaA p.E446E NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN Homo sapiens tripartite motif containing 67 (TRIM67), mRNA. 446 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) ACTGCCTGGAGGTGATCAAGG 0.527000 71 97 0 0 0.003610 0 0 UTP14C 9724 broad.mit.edu 37 13 52603949 52603949 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:52603949C>T uc001vgb.3 + 1 1571 c.1009C>T c.(1009-1011)Cag>Tag p.Q337* UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Nonsense_Mutation_p.Q337* NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA. 337 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) ACAGAAACTCCAGGTAGCCTC 0.507000 74 17 0 0 0.006122 0 0 FRMD7 90167 broad.mit.edu 37 X 131212337 131212337 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:131212337C>T uc004ewn.3 - 11 1886 c.1708G>A c.(1708-1710)Gaa>Aaa p.E570K FRMD7_uc022cdy.1_Missense_Mutation_p.E450K|FRMD7_uc011muy.2_Missense_Mutation_p.E555K NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 570 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTTGGGTCTTCCTCTTCTAGA 0.418000 75 83 0 0 0.003610 0 0 SLC39A5 283375 broad.mit.edu 37 12 56626590 56626590 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:56626590G>A uc010sqj.2 + 4 662 c.405G>A c.(403-405)tcG>tcA p.S135S SLC39A5_uc010sqi.2_Silent_p.S26S|SLC39A5_uc010sqk.2_Silent_p.S135S NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA. 135 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGCCCCCTCGGGCCTGGACC 0.617000 30 23 0 0 0.003954 0 0 MSH6 2956 broad.mit.edu 37 2 48027152 48027152 + Missense_Mutation SNP G T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:48027152G>T uc002rwd.4 + 3 2182 c.2030G>T c.(2029-2031)aGt>aTt p.S677I MSH6_uc002rwc.2_Missense_Mutation_p.S677I|MSH6_uc010fbj.3_Missense_Mutation_p.S375I|MSH6_uc010yoj.2_Missense_Mutation_p.S375I NM_000179 NP_000170 P52701 MSH6_HUMAN Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA. 677 DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGAGAGAAAAGTGAATTGGCC 0.418000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 122 37 4.11147e-13 6.84394e-13 0.003755 1 0 CDK2AP1 8099 broad.mit.edu 37 12 123749768 123749768 + Missense_Mutation SNP C A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:123749768C>A uc001ueq.3 - 2 777 c.255G>T c.(253-255)aaG>aaT p.K85N NM_004642 NP_004633 O14519 CDKA1_HUMAN Homo sapiens cyclin-dependent kinase 2 associated protein 1 (CDK2AP1), mRNA. 85 DNA-dependent DNA replication|S phase of mitotic cell cycle|protein phosphorylation cytoplasm|nucleus DNA binding|protein binding lung(2)|stomach(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178) CCATGGCACTCTTGCTCCCTG 0.577000 165 81 1.17954e-47 1.96957e-47 0.003610 1 0 ABCC4 10257 broad.mit.edu 37 13 95813473 95813473 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr13:95813473G>A uc001vmd.4 - 18 2544 c.2425C>T c.(2425-2427)Ccg>Tcg p.P809S ABCC4_uc010afk.3_Missense_Mutation_p.P762S|ABCC4_uc001vme.2_Missense_Mutation_p.P809S|ABCC4_uc010tih.1_Missense_Mutation_p.P734S NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 809 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) AATAATACCGGAGCTTTCAGA 0.348000 15 25 0 0 0.004656 0 0 ZDHHC21 340481 broad.mit.edu 37 9 14639895 14639895 + Splice_Site SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:14639895G>A uc003zlh.2 - 8 1099 c.621_splice c.e8+1 p.T207_splice ZDHHC21_uc003zlg.2_Intron NM_178566 NP_848661 Q8IVQ6 ZDH21_HUMAN Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNA. 207 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) TATACTTACTGTGATGATGCC 0.299000 10 20 0 0 0.001523 0 0 PSMC4 5704 broad.mit.edu 37 19 40486287 40486287 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:40486287G>A uc002omq.3 + 8 1050 c.1013G>A c.(1012-1014)cGc>cAc p.R338H PSMC4_uc002omr.3_Missense_Mutation_p.R307H NM_006503 NP_006494 P43686 PRS6B_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA. 338 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTCCTGACCGCCGCCAGAAG 0.522000 151 56 0 0 0.003610 0 0 NEBL 10529 broad.mit.edu 37 10 21097567 21097567 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:21097567C>T uc001iqi.3 - 25 3030 c.2633G>A c.(2632-2634)cGa>cAa p.R878Q NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 878 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGACCAGTGTCGCCTATAGTG 0.413000 31 51 0 0 0.003610 0 0 AKT3 10000 broad.mit.edu 37 1 243716030 243716030 + Splice_Site SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:243716030C>T uc001iab.2 - 10 1275 c.1163_splice c.e10+1 p.R388_splice AKT3_uc001hzz.1_Splice_Site_p.R388_splice|AKT3_uc021plu.1_Splice_Site_p.R388_splice NM_005465 NP_005456 Q9Y243 AKT3_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) (AKT3), transcript variant 1, mRNA. 388 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TTGAGGCTTACCGTTTATTTG 0.308000 55 14 0 0 0.002450 0 0 TIAM2 26230 broad.mit.edu 37 6 155578089 155578089 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:155578089G>A uc003qqb.3 + 28 6213 c.4940G>A c.(4939-4941)gGa>gAa p.G1647E TIAM2_uc003qqe.3_Missense_Mutation_p.G1647E|TFB1M_uc003qqj.4_3'UTR|TIAM2_uc010kjj.3_Missense_Mutation_p.G1209E|TIAM2_uc003qqf.3_Missense_Mutation_p.G1023E|TIAM2_uc011efl.1_Missense_Mutation_p.G991E|TIAM2_uc003qqg.3_Missense_Mutation_p.G959E|TIAM2_uc003qqh.3_Missense_Mutation_p.G572E|TFB1M_uc003qqi.1_5'Flank NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1647 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGGGACAGAGGAACTTTGCTC 0.532000 8 15 0 0 0.002450 0 0 DNAH1 25981 broad.mit.edu 37 3 52434413 52434413 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:52434413G>A uc011bef.2 + 77 13010 c.12749G>A c.(12748-12750)cGa>cAa p.R4250Q DNAH1_uc003ddv.3_3'UTR NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 4315 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCCCCAGCGACACTGGATA 0.537000 62 61 0 0 0.003610 0 0 BEND4 389206 broad.mit.edu 37 4 42122147 42122148 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:42122147_42122148CC>TT uc003gwn.3 - 4 1890_1891 c.1310_1311GG>AA c.(1309-1311)agg>aAA p.R437K BEND4_uc003gwm.3_Missense_Mutation_p.R437K|BEND4_uc011byy.1_Missense_Mutation_p.R437K NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 437 BEN. NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 CTGACCTTTTCCTTTTCCCAAG 0.485000 21 10 0 0 0.004672 0 0 GABRR1 2569 broad.mit.edu 37 6 89891630 89891630 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:89891630G>A uc003pna.2 - 7 1398 c.943C>T c.(943-945)Ccc>Tcc p.P315S GABRR1_uc011dzv.1_Missense_Mutation_p.P292S NM_002042 NP_002033 P24046 GBRR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA. 315 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TTACCTAAGGGGACTCTGGCA 0.453000 76 48 0 0 0.003610 0 0 C1orf51 148523 broad.mit.edu 37 1 150259002 150259002 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:150259002C>T uc001euj.3 + 4 1243 c.794C>T c.(793-795)cCa>cTa p.P265L C1orf51_uc001euh.3_Missense_Mutation_p.P265L|C1orf51_uc001eui.3_Missense_Mutation_p.P177L NM_144697 NP_653298 Q8N365 CA051_HUMAN Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA. 265 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CACACCACTCCAATTTGCAAC 0.517000 108 23 0 0 0.003330 0 0 STXBP2 6813 broad.mit.edu 37 19 7707104 7707104 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:7707104C>T uc010xjr.2 + 8 757 c.712C>T c.(712-714)Cgc>Tgc p.R238C STXBP2_uc002mha.4_Missense_Mutation_p.R227C|STXBP2_uc002mhb.4_Missense_Mutation_p.R224C|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank NM_006949 NP_008880 Q15833 STXB2_HUMAN Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA. 227 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGAGAAAACCCGCTCCCAGCT 0.632000 55 17 0 0 0.004990 0 0 AKD1 221264 broad.mit.edu 37 6 109850223 109850223 + Missense_Mutation SNP T A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:109850223T>A uc003ptn.2 - 28 3701 c.3624A>T c.(3622-3624)aaA>aaT p.K1208N AKD1_uc011eat.1_Missense_Mutation_p.K287N NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA. 1208 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2) 20 CCTCCCTCCTTTTTTTATCTC 0.373000 51 37 0 0 0.005524 0 0 ZNF831 128611 broad.mit.edu 37 20 57766216 57766216 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr20:57766216C>T uc002yan.3 + 0 142 c.142C>T c.(142-144)Ctg>Ttg p.L48L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 48 Pro-rich. intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGAGCAGGGCCTGGCCCCCCC 0.731000 21 6 0 0 0.003080 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99003878 99003878 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:99003878G>A uc001knb.3 - 7 1078 c.1032C>T c.(1030-1032)tcC>tcT p.S344S ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Silent_p.S335S|ARHGAP19_uc009xvj.3_Silent_p.S315S|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Silent_p.S138S NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA. 344 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) CCAGCTGAAAGGACTTAGTAT 0.448000 43 21 0 0 0.002299 0 0 ADCY8 114 broad.mit.edu 37 8 131848589 131848589 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:131848589G>A uc003ytd.4 - 11 2865 c.2609C>T c.(2608-2610)gCc>gTc p.A870V ADCY8_uc010mds.3_Missense_Mutation_p.A739V NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 870 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTGAGCAGGGCATAGATGGC 0.557000 HNSCC(32;0.087) 43 49 0 0 0.003610 0 0 MYH1 4619 broad.mit.edu 37 17 10399285 10399285 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:10399285A>G uc002gmo.3 - 34 5245 c.5151T>C c.(5149-5151)gtT>gtC p.V1717V AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1717 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCAGGAGCTGAACACGCTCAC 0.483000 35 17 0 0 0.004007 0 0 FAM55D 54827 broad.mit.edu 37 11 114442128 114442128 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:114442128C>T uc001ppc.3 - 5 1348 c.1167G>A c.(1165-1167)agG>agA p.R389R FAM55D_uc001ppd.3_Silent_p.R105R NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA. 389 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TGTTGATGTTCCTATCCAAAT 0.418000 164 7 0 0 0.001984 0 0 DMD 1756 broad.mit.edu 37 X 32380965 32380965 + Silent SNP G A A rs145515413 byFrequency TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:32380965G>A uc004dda.1 - 36 5509 c.5265C>T c.(5263-5265)ccC>ccT p.P1755P DMD_uc004dcw.2_Silent_p.P411P|DMD_uc004dcx.2_Silent_p.P414P|DMD_uc004dcz.2_Silent_p.P1632P|DMD_uc004dcy.1_Silent_p.P1751P|DMD_uc004ddb.1_Silent_p.P1747P|DMD_uc010ngo.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 1755 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGAGATTTGGGGCTCTACTA 0.468000 108 25 0 0 0.007291 0 0 DNAH10 196385 broad.mit.edu 37 12 124272420 124272420 + Silent SNP C T T rs144145237 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:124272420C>T uc001uft.4 + 9 1333 c.1308C>T c.(1306-1308)gcC>gcT p.A436A DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 436 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.E435G(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGAAAAAGGCCTATTTTGACA 0.557000 30 11 0 0 0.001368 0 0 PRSS50 29122 broad.mit.edu 37 3 46753880 46753880 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr3:46753880C>T uc003cqe.1 - 5 1496 c.1014G>A c.(1012-1014)gaG>gaA p.E338E PRSS50_uc021wxe.1_Silent_p.E338E|PRSS50_uc003cqf.2_Silent_p.E252E NM_013270 NP_037402 Q9UI38 TSP50_HUMAN Homo sapiens protease, serine, 50 (PRSS50), mRNA. 338 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.S337I(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 TGGGTGGGGCCTCGCTCTTCT 0.642000 17 16 0 0 0.004990 0 0 AFM 173 broad.mit.edu 37 4 74354467 74354467 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:74354467C>T uc003hhb.3 + 6 865 c.834C>T c.(832-834)atC>atT p.I278I NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 278 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCAGTGCATCCGTGACACGG 0.358000 40 27 0 0 0.005443 0 0 ABCG1 9619 broad.mit.edu 37 21 43702515 43702515 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr21:43702515C>T uc011aev.2 + 5 827 c.753C>T c.(751-753)ttC>ttT p.F251F ABCG1_uc002zam.3_Silent_p.F218F|ABCG1_uc002zan.3_Silent_p.F242F|ABCG1_uc002zao.3_Silent_p.F237F|ABCG1_uc002zap.3_Silent_p.F240F|ABCG1_uc002zaq.3_Silent_p.F240F|ABCG1_uc002zar.3_Silent_p.F251F NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 240 ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TCATGTTCTTCGATGAGCCCA 0.607000 27 8 0 0 0.003080 0 0 MIP 4284 broad.mit.edu 37 12 56845221 56845221 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:56845221C>T uc001slh.3 - 3 673 c.635G>A c.(634-636)gGg>gAg p.G212E TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank NM_012064 NP_036196 P30301 MIP_HUMAN Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA. 212 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens p.G212E(2) kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GCCCAGACCCCCTCCAATGAT 0.537000 70 83 0 0 0.003610 0 0 ITSN1 6453 broad.mit.edu 37 21 35169762 35169762 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr21:35169762G>A uc002yta.1 + 17 2300 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.E562K|ITSN1_uc002ysy.3_Missense_Mutation_p.E678K|ITSN1_uc002ysx.3_Missense_Mutation_p.E641K|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.E678K|ITSN1_uc010gmg.3_Missense_Mutation_p.E641K|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.E678K|ITSN1_uc010gmi.3_Missense_Mutation_p.E641K|ITSN1_uc002ytb.1_Missense_Mutation_p.E678K|ITSN1_uc002ytc.1_Missense_Mutation_p.E678K|ITSN1_uc010gmk.3_Missense_Mutation_p.E641K|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.E678K|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.E612K|ITSN1_uc021wip.1_Missense_Mutation_p.E572K NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 678 KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AAAACTCCACGAAGAGGAAAA 0.502000 83 50 0 0 0.003610 0 0 KCND2 3751 broad.mit.edu 37 7 120373061 120373061 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:120373061C>T uc003vjj.1 + 1 2185 c.1220C>T c.(1219-1221)tCc>tTc p.S407F NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 407 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GTGATTGTATCCAACTTCAGT 0.483000 37 14 0 0 0.001855 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566986 45566986 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:45566986C>T uc010dnv.3 - 2 995 c.559G>A c.(559-561)Gat>Aat p.D187N ZBTB7C_uc002ldb.3_Missense_Mutation_p.D165N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D174N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D165N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D187N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D214N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D174N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D187N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D187N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D174N|ZBTB7C_uc010don.1_Missense_Mutation_p.D173N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D187N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D174N NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 165 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GTGTCATCATCGTCAtcctcc 0.552000 62 21 0 0 0.002299 0 0 ARSF 416 broad.mit.edu 37 X 3021913 3021913 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:3021913G>A uc022brz.1 + 8 1349 c.1213G>A c.(1213-1215)Gat>Aat p.D405N ARSF_uc004cre.2_Missense_Mutation_p.D405N|ARSF_uc004crf.2_Missense_Mutation_p.D405N NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 405 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) AAGTTTAATGGATATTTTACC 0.483000 56 21 0 0 0.002299 0 0 C18orf34 374864 broad.mit.edu 37 18 30913285 30913285 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr18:30913285A>G uc010xbr.1 - 8 874 c.732T>C c.(730-732)caT>caC p.H244H C18orf34_uc002kxn.2_Silent_p.H244H|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.H244H|C18orf34_uc002kxp.3_Silent_p.H244H NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 244 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 GTTTTTCAAAATGTTGTAGTT 0.348000 45 23 0 0 0.002780 0 0 PKD1L2 114780 broad.mit.edu 37 16 81164149 81164149 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:81164149C>T uc002fgh.1 - 35 5955 c.5955G>A c.(5953-5955)agG>agA p.R1985R PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1986 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGAAAAGCCCCTGGTGAAGC 0.592000 8 7 0 0 0.001984 0 0 DDAH2 23564 broad.mit.edu 37 6 31696664 31696664 + Nonsense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:31696664C>T uc003nwp.3 - 0 906 c.275G>A c.(274-276)tGg>tAg p.W92* DDAH2_uc003nwq.3_Nonsense_Mutation_p.W92* NM_013974 NP_039268 O95865 DDAH2_HUMAN Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA. 92 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) AGCGGGGCTCCAGGGCCGCGT 0.642000 331 13 0 0 0.001855 0 0 CHN1 1123 broad.mit.edu 37 2 175664938 175664938 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:175664938G>A uc002uji.3 - 12 1627 c.1286C>T c.(1285-1287)tCt>tTt p.S429F CHN1_uc010zeq.2_Missense_Mutation_p.S403F|CHN1_uc002ujj.3_Missense_Mutation_p.S204F|CHN1_uc002ujg.3_Missense_Mutation_p.S304F NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 429 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TAGTTCTGGAGATCTCATAAG 0.408000 T TAF15 extraskeletal myxoid chondrosarcoma 26 38 0 0 0.004878 0 0 CSTF2 1478 broad.mit.edu 37 X 100092352 100092352 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:100092352A>T uc004egh.3 + 11 1583 c.1525A>T c.(1525-1527)Atg>Ttg p.M509L CSTF2_uc010nnd.3_Missense_Mutation_p.M529L|CSTF2_uc004egi.3_Missense_Mutation_p.M492L NM_001325 NP_001316 P33240 CSTF2_HUMAN Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA. 509 Gly/Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex RNA binding|nucleotide binding|protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 GGGAACAGGAATGCAAGGAGC 0.453000 27 38 0 0 0.006999 0 0 SVOPL 136306 broad.mit.edu 37 7 138312160 138312160 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:138312160C>T uc011kqh.2 - 10 1116 c.1116G>A c.(1114-1116)ctG>ctA p.L372L SVOPL_uc003vue.3_Silent_p.L220L NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 372 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 TAGAAAGGCTCAGCCGTCTTC 0.398000 21 7 0 0 0.004482 0 0 CLCN4 1183 broad.mit.edu 37 X 10181826 10181826 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:10181826G>A uc004csy.4 + 10 2112 c.1682G>A c.(1681-1683)tGg>tAg p.W561* CLCN4_uc011mid.2_Nonsense_Mutation_p.W467* NM_001830 NP_001821 P51793 CLCN4_HUMAN Homo sapiens chloride channel 4 (CLCN4), mRNA. 561 early endosome membrane|integral to membrane|late endosome membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACCAGCAAGTGGGTAGCTGAT 0.527000 71 24 0 0 0.006320 0 0 ZFR2 23217 broad.mit.edu 37 19 3834962 3834962 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:3834962G>A uc002lyw.2 - 1 85 c.73C>T c.(73-75)Ccc>Tcc p.P25S ZFR2_uc010xhx.1_Non-coding_Transcript NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA. 25 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GTGGGCAGGGGAAGGGTCGGA 0.627000 17 5 0 0 0.000602 0 0 PDE1C 5137 broad.mit.edu 37 7 31862790 31862790 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:31862790C>T uc003tcm.2 - 13 1940 c.1479G>A c.(1477-1479)ccG>ccA p.P493P PDE1C_uc003tcn.1_Silent_p.P493P|PDE1C_uc003tco.2_Silent_p.P553P|PDE1C_uc003tcr.3_Silent_p.P493P|PDE1C_uc003tcs.3_Silent_p.P493P NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 493 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.A492E(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AATTGTTGATCGGGGCACTTC 0.468000 67 21 0 0 0.001523 0 0 PRRC2B 84726 broad.mit.edu 37 9 134363292 134363292 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:134363292C>T uc004can.4 + 26 6089 c.6034C>T c.(6034-6036)Ctc>Ttc p.L2012F PRRC2B_uc004cao.4_Missense_Mutation_p.L1369F|PRRC2B_uc004cap.4_Missense_Mutation_p.L157F|SNORD62A_uc004car.3_5'Flank|PRRC2B_uc011mch.2_5'Flank NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 2012 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CACCATGATCCTCTCTGGGGG 0.607000 45 10 0 0 0.008291 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696495 69696495 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:69696495C>T uc003hee.3 + 5 1510 c.1485C>T c.(1483-1485)ttC>ttT p.F495F UGT2B10_uc011cam.2_Silent_p.F411F NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 495 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TGATTGGGTTCCTGCTGGCTT 0.453000 75 29 0 0 0.008361 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849181 14849181 + Missense_Mutation SNP G C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:14849181G>C uc001rcd.3 - 0 339 c.202C>G c.(202-204)Cgt>Ggt p.R68G GUCY2C_uc009zhz.2_Missense_Mutation_p.R68G NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 68 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 breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTTTGCAGACGTCCTCTCACT 0.448000 22 7 0 0 0.004482 0 0 MYH2 4620 broad.mit.edu 37 17 10432283 10432283 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:10432283C>T uc010coi.3 - 26 3596 c.3468G>A c.(3466-3468)ctG>ctA p.L1156L AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L1156L|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1156 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGGCTTCTTCCAGCCTCTCGC 0.622000 110 48 0 0 0.003610 0 0 C8B 732 broad.mit.edu 37 1 57420480 57420480 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:57420480G>A uc001cyp.3 - 3 479 c.412C>T c.(412-414)Ctt>Ttt p.L138F C8B_uc010oon.2_Missense_Mutation_p.L76F|C8B_uc010ooo.2_Missense_Mutation_p.L86F NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 138 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TTGCAAAGAAGTCTGCGGTTT 0.428000 54 18 0 0 0.008871 0 0 NUP133 55746 broad.mit.edu 37 1 229606385 229606385 + Missense_Mutation SNP T C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:229606385T>C uc001htn.3 - 14 2110 c.2018A>G c.(2017-2019)aAc>aGc p.N673S NM_018230 NP_060700 Q8WUM0 NU133_HUMAN Homo sapiens nucleoporin 133kDa (NUP133), mRNA. 673 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTCCCTCTTGTTCAAAGCAAT 0.483000 36 77 0 0 0.003610 0 0 RAD17 5884 broad.mit.edu 37 5 68677755 68677755 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:68677755C>T uc003jwo.3 + 3 474 c.412C>T c.(412-414)Cct>Tct p.P138S RAD17_uc003jwg.3_Missense_Mutation_p.P127S|RAD17_uc003jwi.3_Missense_Mutation_p.P127S|RAD17_uc003jwh.3_Missense_Mutation_p.P127S|RAD17_uc003jwj.3_Missense_Mutation_p.P127S|RAD17_uc003jwk.3_Missense_Mutation_p.P127S|RAD17_uc003jwl.3_Missense_Mutation_p.P127S|RAD17_uc003jwm.3_5'UTR|RAD17_uc003jwn.3_Missense_Mutation_p.P41S NM_133339 NP_579917 O75943 RAD17_HUMAN Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA. 138 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AATAACAGGTCCTCCTGGATG 0.318000 Other conserved DNA damage response genes 28 7 0 0 0.004482 0 0 FGG 2266 broad.mit.edu 37 4 155528085 155528085 + Missense_Mutation SNP G A A rs121913087 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:155528085G>A uc003ioj.3 - 7 1042 c.901C>T c.(901-903)Cgc>Tgc p.R301C FGG_uc003iog.3_Missense_Mutation_p.R301C NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 301 Fibrinogen C-terminal. R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa).|R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.R301H(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TATGTTAGGCGGTACTTGTCA 0.478000 53 28 0 0 0.001786 0 0 TLR3 7098 broad.mit.edu 37 4 187005174 187005174 + Missense_Mutation SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr4:187005174A>T uc003iyq.3 + 3 2435 c.2334A>T c.(2332-2334)gaA>gaT p.E778D TLR3_uc011ckz.2_Missense_Mutation_p.E501D|TLR3_uc003iyr.3_Missense_Mutation_p.E501D NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 778 TIR. I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity p.M777I(1) breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CTTCAATGGAAAAGGAAGACC 0.368000 45 19 0 0 0.008871 0 0 SEC14L5 9717 broad.mit.edu 37 16 5056031 5056031 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:5056031C>T uc002cye.2 + 11 1599 c.1419C>T c.(1417-1419)ttC>ttT p.F473F NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 473 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TCCCTGACTTCCTTGGGGGAG 0.587000 33 23 0 0 0.004656 0 0 IL36B 27177 broad.mit.edu 37 2 113783714 113783714 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr2:113783714G>A uc002tiq.1 - 4 461 c.357C>T c.(355-357)ttC>ttT p.F119F NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 119 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 gggttcccatgaagcagctct 0.478000 22 22 0 0 0.001882 0 0 IQGAP2 10788 broad.mit.edu 37 5 75866439 75866439 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr5:75866439C>T uc003kek.3 + 3 560 c.338C>T c.(337-339)aCc>aTc p.T113I NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 113 CH. small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACAGATAATACCGTCCAGTGG 0.443000 42 47 0 0 0.003610 0 0 FCER1A 2205 broad.mit.edu 37 1 159273949 159273949 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:159273949C>T uc001ftq.3 + 3 405 c.308C>T c.(307-309)cCt>cTt p.P103L NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 103 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GAGAGTGAACCTGTGTACCTG 0.393000 65 15 0 0 0.004990 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831852 24831852 + Nonsense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr10:24831852G>A uc001iru.4 + 18 4056 c.3653G>A c.(3652-3654)tGg>tAg p.W1218* KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Nonsense_Mutation_p.W901*|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.W54* NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1218 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCTCCTAAGTGGGAAAGAGGA 0.423000 8 21 0 0 0.001523 0 0 GSDMB 55876 broad.mit.edu 37 17 38065230 38065230 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:38065230G>A uc010cwj.3 - 4 773 c.642C>T c.(640-642)ttC>ttT p.F214F GSDMB_uc010cwi.3_5'Flank|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Intron|GSDMB_uc010cwk.3_Intron|GSDMB_uc002htg.3_Silent_p.F214F|GSDMB_uc002hth.3_Silent_p.F214F|GSDMB_uc010wem.2_Silent_p.F214F NM_001165958 NP_001159430 Q8TAX9 GSDMB_HUMAN Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA. 214 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 CCTTGTTGGGGAAGACAAGCT 0.552000 109 98 0 0 0.003610 0 0 DUSP27 92235 broad.mit.edu 37 1 167097470 167097470 + Silent SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:167097470G>A uc001geb.1 + 4 3118 c.3102G>A c.(3100-3102)gaG>gaA p.E1034E NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 1034 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.R1033Q(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTTCCCGAGAGGAGAGCCCAG 0.577000 21 33 0 0 0.003271 0 0 TRIM31 11074 broad.mit.edu 37 6 30071529 30071529 + Silent SNP A T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr6:30071529A>T uc003npg.1 - 8 1172 c.1062T>A c.(1060-1062)tcT>tcA p.S354S TRIM31_uc003npi.3_Non-coding_Transcript NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 354 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 ATGGGGCTGAAGAGTGGTGAT 0.547000 137 82 0 0 0.003610 0 0 KRT26 353288 broad.mit.edu 37 17 38928008 38928008 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:38928008C>T uc002hvf.3 - 0 404 c.358G>A c.(358-360)Gag>Aag p.E120K NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN Homo sapiens keratin 26 (KRT26), mRNA. 120 Linker 1.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) TCACATTTCTCGTACCAGCCC 0.498000 80 26 0 0 0.003330 0 0 CYTH2 9266 broad.mit.edu 37 19 48977503 48977504 + Missense_Mutation DNP CC TT TT TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:48977503_48977504CC>TT uc002pjj.4 + 6 912_913 c.612_613CC>TT c.(610-615)gtccgg>gtTTgg p.R205W NM_017457 NP_059431 Q99418 CYH2_HUMAN Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA. 205 actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.V204I(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 ATCCCAATGTCCGGGACAAGCC 0.634000 50 36 0 0 0.004672 0 0 USP36 57602 broad.mit.edu 37 17 76799935 76799935 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:76799935G>A uc002jvz.1 - 15 2667 c.2342C>T c.(2341-2343)tCg>tTg p.S781L USP36_uc002jwa.1_Missense_Mutation_p.S781L|USP36_uc002jwb.1_Missense_Mutation_p.S393L|USP36_uc002jwc.1_Missense_Mutation_p.S481L|USP36_uc002jvy.1_5'Flank NM_025090 NP_079366 Q9P275 UBP36_HUMAN Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA. 781 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.S781L(3)|p.I780M(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CAGCGCCGTCGAGATGGAGGA 0.637000 53 65 0 0 0.003610 0 0 LILRA1 11024 broad.mit.edu 37 19 55106864 55106864 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:55106864C>T uc002qgh.1 + 4 840 c.658C>T c.(658-660)Cta>Tta p.L220L LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.L220L NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 220 Ig-like C2-type 2. L -> P (in dbSNP:rs373854). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCTCCTGGTCCTAGGTGAGAA 0.587000 97 20 0 0 0.001523 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762252 92762252 + Silent SNP A G G TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr7:92762252A>G uc003umh.1 - 4 4249 c.3033T>C c.(3031-3033)atT>atC p.I1011I SAMD9L_uc003umj.1_Silent_p.I1011I|SAMD9L_uc003umi.1_Silent_p.I1011I|SAMD9L_uc010lfb.1_Silent_p.I1011I|SAMD9L_uc003umk.1_Silent_p.I1011I|SAMD9L_uc010lfc.1_Silent_p.I1011I|SAMD9L_uc010lfd.1_Silent_p.I1011I|SAMD9L_uc022ahh.1_Silent_p.I1011I NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1011 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) TATTCAATGCAATTTGACATT 0.363000 51 26 0 0 0.003330 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72759590 72759590 + Missense_Mutation SNP G A A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr17:72759590G>A uc002jlo.3 + 2 911 c.688G>A c.(688-690)Gtg>Atg p.V230M SLC9A3R1_uc002jln.1_Non-coding_Transcript NM_004252 NP_004243 O14745 NHRF1_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA. 230 PDZ 2. Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association large_intestine(4) 4 CAAGCTGCTGGTGGTGGACAG 0.622000 12 21 0 0 0.001523 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171723 4171723 + Silent SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr19:4171723C>T uc002lzl.3 + 9 1259 c.1143C>T c.(1141-1143)gcC>gcT p.A381A CREB3L3_uc002lzm.3_Silent_p.A371A|CREB3L3_uc010xib.2_Silent_p.A370A|CREB3L3_uc010xic.2_3'UTR NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 381 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCGAGGCCCCAGGACCCC 0.637000 117 37 0 0 0.006230 0 0 AMOT 154796 broad.mit.edu 37 X 112048315 112048315 + Missense_Mutation SNP C T T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chrX:112048315C>T uc004epr.3 - 4 1654 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K AMOT_uc004eps.3_Missense_Mutation_p.E137K NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 546 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CGCTGGCTTTCTTTATCTGTC 0.498000 138 56 0 0 0.003610 0 0 HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA - - rs11556342 TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr1:154245864_154245866delGAA uc010peo.2 + 1 267_269 c.106_108delGAA c.(106-108)gaadel p.E40del HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_In_Frame_Del_p.E40del|HAX1_uc009wou.3_5'UTR NM_006118 NP_006109 O00165 HAX1_HUMAN Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA. 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome --- 99 --- --- 7 --- GSDMC 56169 broad.mit.edu 37 8 130789808 130789808 + Frame_Shift_Del DEL C - - TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr8:130789808delC uc003ysr.3 - 1 908 c.26delG c.(25-27)agcfs p.S9fs NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN Homo sapiens gasdermin C (GSDMC), mRNA. 9 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 CAAATTTTTGCTAATGCGTTC 0.403 --- 76 --- --- 33 --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA - - TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr9:116187646_116187648delGCA uc004bhp.3 + 9 1334_1336 c.888_890delGCA c.(886-891)cggcag>cgg p.Q304del C9orf43_uc004bho.4_In_Frame_Del_p.Q304del NM_152786 NP_689999 Q8TAL5 CI043_HUMAN Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA. 304 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 --- 122 --- --- 7 --- CCDC81 60494 broad.mit.edu 37 11 86131005 86131014 + Frame_Shift_Del DEL TAAATAGAGT - - rs143827396 byFrequency TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr11:86131005_86131014delTAAATAGAGT uc001pbx.2 + 13 2155_2164 c.1727_1736delTAAATAGAGT c.(1726-1737)gtaaatagagtcfs p.V576fs CCDC81_uc001pbw.2_Frame_Shift_Del_p.V486fs|CCDC81_uc010rtq.2_Frame_Shift_Del_p.V359fs|CCDC81_uc001pby.2_Frame_Shift_Del_p.V311fs NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA. 576 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CTGGAGCGAGTAAATAGAGTCAACCAATGC 0.514 --- 24 --- --- 30 --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + Frame_Shift_Ins INS - G G rs141646579 by1000genomes TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr12:7080210_7080211insG uc001qsh.4 + 0 267_268 c.124_125insG c.(124-126)agtfs p.S42fs PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript NM_006331 NP_006322 Q92979 NEP1_HUMAN Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA. 42 ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 --- 19 --- --- 9 --- KIAA0182 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - C C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c21a5d55-9790-429f-a4e6-420293c07b53 36e999ee-96c4-47cc-865c-4eb8c9306c57 g.chr16:85682289_85682290insC uc002fix.3 + 2 432_433 c.358_359insC c.(358-360)accfs p.T120fs KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 120 protein binding p.V123fs*2(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 CGTGCCCAGCACCCCCCCCGTG 0.688 --- 172 --- --- 7 ---