Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HCAR2 338442 broad.mit.edu 37 12 123187263 123187263 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:123187263C>T ENST00000328880.5 - 1 627 c.568G>A c.(568-570)Gaa>Aaa p.E190K RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 190 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) AACATGGCTTCGTGCCACTGG 0.552000 4 95 0 0 0.009096 0 0 MLIP 90523 broad.mit.edu 37 6 53986275 53986275 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:53986275C>T ENST00000514921.1 + 2 207 c.94C>T c.(94-96)Ctg>Ttg p.L32L MLIP_ENST00000358276.5_Silent_p.L26L|MLIP_ENST00000274897.5_Silent_p.L32L|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Silent_p.L43L|MLIP_ENST00000370876.2_Intron Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 32 Interaction with LMNA. nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AGCCAAACCTCTGATCTTCAC 0.408000 6 111 0 0 0.006214 0 0 DMC1 11144 broad.mit.edu 37 22 38917728 38917728 + Splice_Site SNP A A T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38917728A>T ENST00000216024.2 - 13 1114 c.836_splice c.e13-1 p.F280_splice DMC1_ENST00000428462.2_Splice_Site_p.F225_splice NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 280 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TCTGCCTGAAAGCTGAATTAA 0.408000 Homologous recombination 8 80 0 0 0.003080 0 0 IGLV2-23 28813 broad.mit.edu 37 22 23040796 23040796 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:23040796C>T ENST00000390306.2 + 0 406 GGTTTCTAATCGCTTCTCTGG 0.537000 10 150 0 0 0.006214 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 50 0 0 0.004672 0 0 KALRN 8997 broad.mit.edu 37 3 124153237 124153237 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:124153237C>T ENST00000360013.3 + 17 3034 c.2907C>T c.(2905-2907)gcC>gcT p.A969A KALRN_ENST00000460856.1_Silent_p.A960A|KALRN_ENST00000240874.3_Silent_p.A969A NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 969 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGCTCCAGGCCGGCCACTACG 0.587000 4 41 0 0 0.009096 0 0 C1orf168 199920 broad.mit.edu 37 1 57216843 57216843 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:57216843G>A ENST00000343433.6 - 9 1341 c.1261C>T c.(1261-1263)Cag>Tag p.Q421* C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 421 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTGGTCATCTGAATTTTTTCA 0.458000 9 48 0 0 0.004482 0 0 DBH 1621 broad.mit.edu 37 9 136508583 136508583 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:136508583G>A ENST00000393056.2 + 4 805 c.793G>A c.(793-795)Gaa>Aaa p.E265K NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 265 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCACCACATGGAAGTCTTCCA 0.657000 4 61 0 0 0.009096 0 0 CARD11 84433 broad.mit.edu 37 7 2987263 2987263 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:2987263C>T ENST00000396946.4 - 3 569 c.166G>A c.(166-168)Gat>Aat p.D56N NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 56 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCATCTTCATCCTGCTCATCA 0.547000 Mis DLBCL 7 106 0 0 0.001984 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724435 38724435 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:38724435C>T ENST00000342213.2 - 1 1139 c.793G>A c.(793-795)Gac>Aac p.D265N NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 265 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCTCCCAAGTCGTCTAGGCAG 0.642000 9 128 0 0 0.008291 0 0 OR13C4 138804 broad.mit.edu 37 9 107288987 107288987 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:107288987G>A ENST00000277216.3 - 1 503 c.504C>T c.(502-504)ttC>ttT p.F168F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGTTCCCACAGAAAGGCCATC 0.388000 5 80 0 0 0.000602 0 0 DMBT1 1755 broad.mit.edu 37 10 124380767 124380767 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:124380767G>A ENST00000338354.3 + 41 5198 c.5092G>A c.(5092-5094)Ggc>Agc p.G1698S DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1688S|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1070S|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1070S|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1688S|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1698S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1698 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTTTGGCCAGGGCTCAGGACC 0.612000 9 219 0 0 0.006214 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189541 167189541 + Missense_Mutation SNP C C T rs147443553 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:167189541C>T ENST00000476257.1 - 3 380 c.82G>A c.(82-84)Gaa>Aaa p.E28K SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E28K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E28K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E28K O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 28 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 ACTGCAAATTCGGTATTTTTT 0.368000 8 111 0 0 0.003080 0 0 LPPR1 54886 broad.mit.edu 37 9 104032238 104032238 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:104032238G>A ENST00000374874.3 + 3 579 c.140G>A c.(139-141)gGa>gAa p.G47E LPPR1_ENST00000395056.2_Missense_Mutation_p.G47E NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 47 integral to membrane catalytic activity CATATCCAAGGATTCTTCTGT 0.502000 6 69 0 0 0.001168 0 0 TRIML1 339976 broad.mit.edu 37 4 189068016 189068016 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:189068016C>T ENST00000332517.3 + 6 1037 c.897C>T c.(895-897)ctC>ctT p.L299L TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 299 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.L299L(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ATGCCTATCTCGTGTTGTCGG 0.512000 11 168 0 0 0.001855 0 0 STON2 85439 broad.mit.edu 37 14 81744382 81744382 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:81744382G>A ENST00000555447.1 - 6 1685 c.1273C>T c.(1273-1275)Cgt>Tgt p.R425C STON2_ENST00000267540.2_Missense_Mutation_p.R425C NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 425 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CACCCGTCACGAGGCTGGGAC 0.532000 5 118 0 0 0.000602 0 0 PAX4 5078 broad.mit.edu 37 7 127253547 127253547 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:127253547C>T ENST00000341640.2 - 5 783 c.578G>A c.(577-579)gGa>gAa p.G193E PAX4_ENST00000463946.1_Missense_Mutation_p.G191E|PAX4_ENST00000338516.3_Missense_Mutation_p.G201E|PAX4_ENST00000378740.2_Missense_Mutation_p.G193E NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 201 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGCCAGCTTTCCACGGGCCAC 0.592000 4 64 0 0 0.009096 0 0 TRAV5 28688 broad.mit.edu 37 14 22217916 22217916 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:22217916G>A ENST00000390427.3 + 0 279 TGAATAAAAAGGATAAACATC 0.433000 4 53 0 0 0.009096 0 0 MYH4 4622 broad.mit.edu 37 17 10348440 10348440 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10348440C>T ENST00000255381.2 - 37 5429 c.5319G>A c.(5317-5319)ctG>ctA p.L1773L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1773 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTCCTTCTTCAGCTCCTCAG 0.493000 6 139 0 0 0.003080 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561224 33561224 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:33561224C>T ENST00000504830.1 - 20 4368 c.4033G>A c.(4033-4035)Gat>Aat p.D1345N ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1260N NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1345 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CAGTCAGAATCCATCTGGGTG 0.572000 HNSCC(64;0.19) 4 78 0 0 0.009096 0 0 AGPAT5 55326 broad.mit.edu 37 8 6599221 6599221 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:6599221C>T ENST00000285518.6 + 5 847 c.535C>T c.(535-537)Cca>Tca p.P179S AGPAT5_ENST00000530716.1_3'UTR NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 179 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) AAGGTATAATCCAGAGCAAAC 0.338000 5 120 0 0 0.001168 0 0 SYN3 8224 broad.mit.edu 37 22 32914039 32914039 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:32914039G>A ENST00000358763.2 - 13 1843 c.1601C>T c.(1600-1602)cCg>cTg p.P534L SYN3_ENST00000332840.5_Missense_Mutation_p.P534L|SYN3_ENST00000467095.1_5'UTR NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 534 E. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTTGAGATGCGGATGGGGTGG 0.577000 4 102 0 0 0.001984 0 0 SUN5 140732 broad.mit.edu 37 20 31571702 31571702 + Nonsense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:31571702C>T ENST00000356173.3 - 13 1130 c.1038G>A c.(1036-1038)tgG>tgA p.W346* SUN5_ENST00000375523.3_Nonsense_Mutation_p.W321* NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 346 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CTGGGTTCCCCCAGTTGCTTG 0.597000 10 117 0 0 0.008291 0 0 ZNF180 7733 broad.mit.edu 37 19 44980972 44980972 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:44980972G>A ENST00000221327.4 - 5 2007 c.1726C>T c.(1726-1728)Ccg>Tcg p.P576S ZNF180_ENST00000592529.1_Missense_Mutation_p.P549S|ZNF180_ENST00000391956.4_Missense_Mutation_p.P551S NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CATTCATACGGTTTTTCCCCA 0.408000 6 68 0 0 0.001168 0 0 CLIC2 1193 broad.mit.edu 37 X 154507273 154507273 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:154507273G>A ENST00000369449.2 - 6 881 c.663C>T c.(661-663)gcC>gcT p.A221A CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 221 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATTCTTCACGGGCATAGGCAT 0.408000 7 42 0 0 0.003080 0 0 IWS1 55677 broad.mit.edu 37 2 128253686 128253686 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:128253686C>T ENST00000295321.4 - 7 1863 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 535 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GCTCTTTTTTCGCTGCAACAT 0.413000 10 185 0 0 0.006214 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431534 117431534 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:117431534G>A ENST00000160373.3 - 4 1807 c.1716C>T c.(1714-1716)gcC>gcT p.A572A NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 572 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CTGTGTTCGAGGCCCTGCTGC 0.507000 5 98 0 0 0.000602 0 0 OR2B11 127623 broad.mit.edu 37 1 247614447 247614447 + Missense_Mutation SNP G G A rs113868131 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:247614447G>A ENST00000318749.6 - 1 861 c.838C>T c.(838-840)Ctc>Ttc p.L280F NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAATAGAAGAGAGAAATAAAT 0.493000 8 155 0 0 0.004482 0 0 ATXN1 6310 broad.mit.edu 37 6 16326840 16326840 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:16326840G>A ENST00000244769.4 - 8 2638 c.1702C>T c.(1702-1704)Cct>Tct p.P568S ATXN1_ENST00000436367.1_Missense_Mutation_p.P568S NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 568 AXH.|Interaction with USP7.|RNA-binding.|Self-association. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGCAGCGTAGGGGGAGCCGCC 0.612000 4 75 0 0 0.009096 0 0 CHRM5 1133 broad.mit.edu 37 15 34356204 34356204 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:34356204G>A ENST00000383263.5 + 3 1956 c.1286G>A c.(1285-1287)cGa>cAa p.R429Q CHRM5_ENST00000557872.1_Missense_Mutation_p.R429Q NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 429 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) ATGACCAAACGAAAGAGAGTG 0.522000 6 53 0 0 0.001984 0 0 GHDC 84514 broad.mit.edu 37 17 40343146 40343146 + Silent SNP G G T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:40343146G>T ENST00000301671.8 - 5 1413 c.972C>A c.(970-972)ctC>ctA p.L324L GHDC_ENST00000414034.3_Silent_p.L324L|GHDC_ENST00000587427.1_Silent_p.L324L|GHDC_ENST00000436923.2_Silent_p.L324L|GHDC_ENST00000428494.2_Silent_p.L285L|GHDC_ENST00000593209.1_Silent_p.L324L Q8N2G8 GHDC_HUMAN GH3 domain containing 324 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CCTTGACTGGGAGCAGCTCGA 0.637000 7 82 0.00448238 0.0048885 0.004482 1 0 TCHHL1 126637 broad.mit.edu 37 1 152059079 152059079 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152059079G>A ENST00000368806.1 - 3 1143 c.1079C>T c.(1078-1080)tCt>tTt p.S360F NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 360 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) TTGGGTCTCAGATGTTCTGCC 0.423000 7 212 0 0 0.001984 0 0 GPR42 2866 broad.mit.edu 37 19 35862375 35862375 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:35862375C>T ENST00000454971.1 + 2 315 c.114C>T c.(112-114)gtC>gtT p.V38V GPR42_ENST00000597214.1_Silent_p.V38V G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCCTGGTGGTCTTCGTGGGCA 0.642000 5 52 0 0 0.001984 0 0 TENM1 10178 broad.mit.edu 37 X 123805562 123805562 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:123805562C>T ENST00000422452.2 - 6 1202 c.1139G>A c.(1138-1140)gGa>gAa p.G380E TENM1_ENST00000371130.3_Missense_Mutation_p.G380E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGAAACTTTTCCTCCAATTGG 0.403000 4 61 0 0 0.009096 0 0 RGPD8 727851 broad.mit.edu 37 2 113147662 113147662 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:113147662G>A ENST00000302558.3 - 20 3051 c.2860C>T c.(2860-2862)Cgg>Tgg p.R954W RGPD8_ENST00000409750.1_Missense_Mutation_p.R814W NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CCCTTCTTCCGGCCCCTAATA 0.413000 10 259 0 0 0.006214 0 0 PLG 5340 broad.mit.edu 37 6 161162437 161162437 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:161162437G>A ENST00000308192.9 + 17 2176 c.2113G>A c.(2113-2115)Gga>Aga p.G705R NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 705 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACTGGCTGGGGAGAAACCCA 0.458000 5 50 0 0 0.001168 0 0 DCLK3 85443 broad.mit.edu 37 3 36779592 36779592 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:36779592G>A ENST00000416516.2 - 2 1049 c.559C>T c.(559-561)Ccc>Tcc p.P187S NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 187 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTTGCCTCGGGAGACCTCCTG 0.592000 5 80 0 0 0.000602 0 0 RPAP1 26015 broad.mit.edu 37 15 41812679 41812679 + Silent SNP G G C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:41812679G>C ENST00000304330.4 - 22 3821 c.3705C>G c.(3703-3705)ccC>ccG p.P1235P RPAP1_ENST00000561603.1_Intron NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1235 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACGCTGCAGGGGCAGGAGGA 0.592000 3 24 0 0 0.004672 0 0 CASP10 843 broad.mit.edu 37 2 202074268 202074268 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:202074268G>A ENST00000286186.6 + 9 1833 c.1398G>A c.(1396-1398)ctG>ctA p.L466L CASP10_ENST00000448480.1_Silent_p.L423L|CASP10_ENST00000272879.5_Silent_p.L466L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Silent_p.L399L|CASP10_ENST00000346817.5_Silent_p.L423L NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 466 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GTAATCATCTGAAGAAATTGG 0.388000 6 107 0 0 0.003080 0 0 SYTL5 94122 broad.mit.edu 37 X 37893191 37893191 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:37893191G>A ENST00000357972.5 + 2 595 c.49G>A c.(49-51)Gag>Aag p.E17K SYTL5_ENST00000297875.2_Missense_Mutation_p.E17K|SYTL5_ENST00000456733.2_Missense_Mutation_p.E17K|TM4SF2_ENST00000465127.1_Intron Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 17 RabBD. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 ATTAGATCATGAGAAGGAAAT 0.373000 4 25 0 0 0.009096 0 0 MDN1 23195 broad.mit.edu 37 6 90372576 90372576 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:90372576C>T ENST00000369393.3 - 86 14462 c.14347G>A c.(14347-14349)Gat>Aat p.D4783N MDN1_ENST00000428876.1_Missense_Mutation_p.D4783N Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4783 D -> E (in dbSNP:rs36040566). protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) tcctcctcatcATCATCACCC 0.458000 7 133 0 0 0.001984 0 0 RIMKLA 284716 broad.mit.edu 37 1 42875708 42875708 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:42875708C>T ENST00000431473.3 + 4 664 c.535C>T c.(535-537)Ctg>Ttg p.L179L NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 179 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CATCTGCCATCTGATCCGCCA 0.507000 13 117 0 0 0.004007 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768434 31768434 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:31768434C>T ENST00000355459.2 + 1 43 c.30C>T c.(28-30)ttC>ttT p.F10F NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 10 intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTGGAAACTTCTCCTCCCGCT 0.537000 6 190 0 0 0.001984 0 0 FGF16 8823 broad.mit.edu 37 X 76711796 76711796 + Missense_Mutation SNP G G T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:76711796G>T ENST00000439435.1 + 2 133 c.133G>T c.(133-135)Ggg>Tgg p.G45W O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 TGTGTTTTCCGGGAACAGTTT 0.428000 4 68 2.56e-06 2.82513e-06 0.009096 1 0 FLG2 388698 broad.mit.edu 37 1 152329730 152329730 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152329730G>A ENST00000388718.5 - 3 604 c.532C>T c.(532-534)Cag>Tag p.Q178* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 178 Ser-rich. calcium ion binding|structural molecule activity p.Q178*(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TATCTTTTCTGAGATCCCTCT 0.478000 6 188 0 0 0.001984 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216314 20216314 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:20216314C>T ENST00000331723.1 + 1 728 c.728C>T c.(727-729)tCt>tTt p.S243F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACCTGTGCTTCTCACCTGACA 0.463000 5 209 0 0 0.000602 0 0 FCHSD2 9873 broad.mit.edu 37 11 72600875 72600875 + Splice_Site SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:72600875C>T ENST00000409314.1 - 12 1280 c.1113_splice c.e12+1 p.R371_splice FCHSD2_ENST00000409853.1_Splice_Site_p.R291_splice|FCHSD2_ENST00000409418.4_Splice_Site_p.R347_splice|FCHSD2_ENST00000458644.2_Splice_Site_p.R211_splice|FCHSD2_ENST00000311172.7_Splice_Site_p.R291_splice O94868 FCSD2_HUMAN FCH and double SH3 domains 2 347 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TACACTTACCCGTTGTTGGTG 0.398000 11 376 0 0 0.010729 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39155950 39155950 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:39155950G>A ENST00000391587.1 - 1 188 c.156C>T c.(154-156)ccC>ccT p.P52P NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 52 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) GGCAGGGTGGGGGACAGTTGT 0.617000 4 63 0 0 0.000602 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458308 120458308 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:120458308G>A ENST00000256646.2 - 34 7256 c.7037C>T c.(7036-7038)gCc>gTc p.A2346V NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2346 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGCAAACGGGCCATTTCTGG 0.627000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 20 523 0 0 0.010504 0 0 HOXB5 3215 broad.mit.edu 37 17 46669655 46669655 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:46669655G>A ENST00000239151.5 - 2 1004 c.726C>T c.(724-726)ttC>ttT p.F242F HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 242 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GCCGGTTCTGGAACCAGATCT 0.592000 6 129 0 0 0.004482 0 0 OR12D2 26529 broad.mit.edu 37 6 29364501 29364501 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:29364501G>A ENST00000383555.2 + 1 86 c.25G>A c.(25-27)Gaa>Aaa p.E9K OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E9K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CTCAGTCACCGAATTTCTCCT 0.433000 14 198 0 0 0.004990 0 0 NUP210L 91181 broad.mit.edu 37 1 154076521 154076521 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:154076521C>T ENST00000368559.3 - 13 1857 c.1786G>A c.(1786-1788)Gat>Aat p.D596N NUP210L_ENST00000271854.3_Missense_Mutation_p.D596N NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 596 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCTTGTTTATCCATGTTCAGA 0.343000 5 71 0 0 0.000602 0 0 MFSD6 54842 broad.mit.edu 37 2 191301840 191301840 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:191301840C>T ENST00000392328.1 + 3 1409 c.1085C>T c.(1084-1086)cCc>cTc p.P362L MFSD6_ENST00000281416.7_Missense_Mutation_p.P362L NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 362 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 GGGTGTAAGCCCCCCGAGTAC 0.572000 4 32 0 0 0.009096 0 0 MYD88 4615 broad.mit.edu 37 3 38182688 38182688 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:38182688C>T ENST00000417037.2 + 5 1049 c.865C>T c.(865-867)Ctg>Ttg p.L289L MYD88_ENST00000495303.1_3'UTR|MYD88_ENST00000424893.1_Silent_p.L236L|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Silent_p.L281L|MYD88_ENST00000443433.2_3'UTR NM_001172567.1 NP_001166038.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 268 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCCAGCATCCTGAGGTTCAT 0.557000 Mis ABC-DLBCL 7 112 0 0 0.001984 0 0 MFNG 4242 broad.mit.edu 37 22 37876307 37876307 + Missense_Mutation SNP G G A rs146256245 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:37876307G>A ENST00000356998.3 - 3 558 c.335C>T c.(334-336)gCg>gTg p.A112V MFNG_ENST00000416983.3_Missense_Mutation_p.A98V NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 112 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) GCTGTGTTCCGCGGAGCAGTT 0.597000 10 49 0 0 0.008291 0 0 SCN1A 6323 broad.mit.edu 37 2 166848405 166848405 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:166848405C>T ENST00000423058.2 - 26 5397 c.5380G>A c.(5380-5382)Gaa>Aaa p.E1794K SCN1A_ENST00000303395.4_Missense_Mutation_p.E1794K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1783K|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1766K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1794 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCACTTTCTTCAGTAGCAACA 0.418000 7 95 0 0 0.001984 0 0 HRNR 388697 broad.mit.edu 37 1 152192203 152192203 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152192203G>A ENST00000368801.2 - 3 1977 c.1902C>T c.(1900-1902)tcC>tcT p.S634S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 634 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCGTGGCTGGAAGACTGAC 0.577000 12 336 0 0 0.001855 0 0 NPSR1 387129 broad.mit.edu 37 7 34888237 34888237 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:34888237C>T ENST00000360581.1 + 8 1115 c.987C>T c.(985-987)atC>atT p.I329I NPSR1_ENST00000381542.1_Silent_p.I263I|NPSR1_ENST00000381539.3_Silent_p.I329I|NPSR1_ENST00000531252.1_Silent_p.I318I|NPSR1_ENST00000359791.1_Silent_p.I329I NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 329 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ACCCCCTCATCTACTGTGTCT 0.517000 7 154 0 0 0.003080 0 0 CDK19 23097 broad.mit.edu 37 6 110942464 110942464 + Missense_Mutation SNP C C A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:110942464C>A ENST00000368911.3 - 12 1399 c.1220G>T c.(1219-1221)gGg>gTg p.G407V CDK19_ENST00000323817.3_Missense_Mutation_p.G347V|CDK19_ENST00000413605.2_Missense_Mutation_p.G283V NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 407 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 ACCTGCGGTCCCGTTGGTCTG 0.682000 9 92 0.000274275 0.000301147 0.004482 1 0 SCN11A 11280 broad.mit.edu 37 3 38968340 38968340 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:38968340G>A ENST00000450244.1 - 4 769 c.571C>T c.(571-573)Ctt>Ttt p.L191F SCN11A_ENST00000456224.3_Missense_Mutation_p.L191F|SCN11A_ENST00000444237.2_Missense_Mutation_p.L191F|SCN11A_ENST00000302328.3_Missense_Mutation_p.L191F Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 191 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGATCTCGAAGGAAAGAAAAC 0.368000 5 122 0 0 0.000602 0 0 QSOX1 5768 broad.mit.edu 37 1 180159627 180159627 + Missense_Mutation SNP C C A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:180159627C>A ENST00000367602.3 + 10 1274 c.1200C>A c.(1198-1200)ttC>ttA p.F400L QSOX1_ENST00000367600.5_Missense_Mutation_p.F400L O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 400 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGCCGCATTTCCGGGGCTTTC 0.562000 5 115 0.000602214 0.000658989 0.000602 1 0 SLCO3A1 28232 broad.mit.edu 37 15 92663826 92663826 + Missense_Mutation SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:92663826A>G ENST00000318445.6 + 5 1355 c.1141A>G c.(1141-1143)Aac>Gac p.N381D SLCO3A1_ENST00000424469.2_Missense_Mutation_p.N381D|SLCO3A1_ENST00000555549.1_3'UTR NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 381 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GCAGCAGTTTAACCTCACCAC 0.562000 8 198 0 0 0.003080 0 0 TNXB 7148 broad.mit.edu 37 6 32029231 32029231 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:32029231G>A ENST00000375244.3 - 21 7636 c.7435C>T c.(7435-7437)Ctg>Ttg p.L2479L TNXB_ENST00000375247.2_Silent_p.L2479L P22105 TENX_HUMAN tenascin XB 2539 Fibronectin type-III 17. 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 AGGCCATACAGGTGCATCTTG 0.672000 16 383 0 0 0.004990 0 0 RGPD3 653489 broad.mit.edu 37 2 107050819 107050819 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:107050819C>T ENST00000409886.3 - 15 2157 c.2070G>A c.(2068-2070)agG>agA p.R690R RGPD3_ENST00000304514.7_Silent_p.R690R NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 690 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTTCTGCCTTCCTGTGAAAAA 0.368000 4 86 0 0 0.001168 0 0 PEAK1 79834 broad.mit.edu 37 15 77407096 77407096 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:77407096G>A ENST00000560626.2 - 7 5118 c.4643C>T c.(4642-4644)cCc>cTc p.P1548L PEAK1_ENST00000312493.4_Missense_Mutation_p.P1548L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1548 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding AAGCCTAGTGGGATAAGATGA 0.592000 4 82 0 0 0.009096 0 0 MEP1A 4224 broad.mit.edu 37 6 46797217 46797217 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:46797217G>A ENST00000230588.4 + 10 1062 c.1053G>A c.(1051-1053)acG>acA p.T351T NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 351 MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) ATAAAATGACGGGAAGTCCTT 0.517000 9 158 0 0 0.004482 0 0 PCDH18 54510 broad.mit.edu 37 4 138450896 138450896 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:138450896G>A ENST00000344876.4 - 1 2733 c.2347C>T c.(2347-2349)Cct>Tct p.P783S PCDH18_ENST00000412923.2_Missense_Mutation_p.P783S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P563S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 783 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) TCTAAGGTAGGAGATGAAGAT 0.507000 5 44 0 0 0.001168 0 0 LRRC7 57554 broad.mit.edu 37 1 70504196 70504196 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:70504196C>T ENST00000310961.5 + 22 3008 c.2590C>T c.(2590-2592)Cct>Tct p.P864S LRRC7_ENST00000415775.2_Missense_Mutation_p.P143S|LRRC7_ENST00000035383.5_Missense_Mutation_p.P859S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 859 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 GACCGCTTTTCCTTCCAAATT 0.468000 4 79 0 0 0.009096 0 0 OR56A4 120793 broad.mit.edu 37 11 6023370 6023370 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:6023370G>A ENST00000330728.4 - 1 1054 c.1009C>T c.(1009-1011)Ctc>Ttc p.L337F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGGAATGAGGTGGTGCAGG 0.498000 4 58 0 0 0.009096 0 0 SMTNL2 342527 broad.mit.edu 37 17 4496341 4496341 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:4496341G>A ENST00000389313.4 + 3 672 c.605G>A c.(604-606)cGa>cAa p.R202Q SMTNL2_ENST00000338859.4_Missense_Mutation_p.R58Q NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 202 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) GCCATCACCCGAGTCTCTGAC 0.637000 7 47 0 0 0.003080 0 0 NR0B1 190 broad.mit.edu 37 X 30322750 30322750 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:30322750G>A ENST00000378970.4 - 2 1593 c.1359C>T c.(1357-1359)atC>atT p.I453I NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 453 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) TGACTGTGCCGATGATGGGCC 0.458000 7 61 0 0 0.001984 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118005585 118005585 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:118005585C>T ENST00000310754.4 - 1 1151 c.965G>A c.(964-966)aGg>aAg p.R322K NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 322 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 TTCTACCCACCTCTGAAGCCA 0.413000 6 139 0 0 0.003080 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866242 131866242 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:131866242G>A ENST00000359827.3 - 18 4352 c.3390C>T c.(3388-3390)atC>atT p.I1130I PLXNA4_ENST00000321063.4_Silent_p.I1130I Q9HCM2 PLXA4_HUMAN plexin A4 1130 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCTTGTTGAGGATGAGCAGGG 0.592000 6 129 0 0 0.003080 0 0 OR5A1 219982 broad.mit.edu 37 11 59211109 59211109 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:59211109C>T ENST00000302030.2 + 1 493 c.468C>T c.(466-468)ttC>ttT p.F156F NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTGGTGGCTTCCTGAGCTCCC 0.562000 10 266 0 0 0.010729 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504246 220504246 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:220504246C>T ENST00000358055.3 + 20 3578 c.3066C>T c.(3064-3066)tcC>tcT p.S1022S SLC4A3_ENST00000273063.6_Silent_p.S1049S|SLC4A3_ENST00000373762.3_Silent_p.S1049S|SLC4A3_ENST00000317151.3_Silent_p.S1022S|SLC4A3_ENST00000373760.2_Silent_p.S1022S P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1022 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAAGGGCTCCGGTTTCCACC 0.682000 6 80 0 0 0.003080 0 0 ALOXE3 59344 broad.mit.edu 37 17 8015436 8015436 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:8015436G>A ENST00000380149.1 - 6 1257 c.1227C>T c.(1225-1227)ttC>ttT p.F409F ALOXE3_ENST00000318227.3_Silent_p.F385F|ALOXE3_ENST00000448843.2_Silent_p.F253F Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 253 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TATGGCACCAGAAGATGTTCT 0.532000 7 147 0 0 0.003080 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936426 54936426 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:54936426G>A ENST00000293373.6 + 31 3420 c.3341G>A c.(3340-3342)cGa>cAa p.R1114Q NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R1064Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1114 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity p.R1114Q(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GTCCTGCTTCGAAATGCCTAT 0.537000 9 117 0 0 0.008291 0 0 C7orf63 79846 broad.mit.edu 37 7 89938617 89938617 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:89938617G>A ENST00000389297.4 + 22 2842 c.2591G>A c.(2590-2592)aGa>aAa p.R864K C7orf63_ENST00000316089.8_Missense_Mutation_p.R818K|C7orf63_ENST00000497910.1_Missense_Mutation_p.R846K NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 864 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GAAGCCTCCAGATACCATAAA 0.308000 5 85 0 0 0.001168 0 0 CNTN6 27255 broad.mit.edu 37 3 1425027 1425027 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:1425027G>A ENST00000446702.2 + 19 3079 c.2452G>A c.(2452-2454)Gaa>Aaa p.E818K CNTN6_ENST00000539053.1_Missense_Mutation_p.E746K|CNTN6_ENST00000350110.2_Missense_Mutation_p.E818K Q9UQ52 CNTN6_HUMAN contactin 6 818 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.E818Q(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTCTGCTTCTGAAATGGAGGT 0.423000 6 198 0 0 0.001168 0 0 GPR98 84059 broad.mit.edu 37 5 89920996 89920996 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:89920996G>A ENST00000405460.2 + 6 704 c.608G>A c.(607-609)gGa>gAa p.G203E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 203 Calx-beta 2. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCAGTTAAAGGAAATATCACC 0.418000 4 17 0 0 0.000602 0 0 TAF1 6872 broad.mit.edu 37 X 70598118 70598118 + Missense_Mutation SNP T T C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:70598118T>C ENST00000449580.1 + 7 1015 c.964T>C c.(964-966)Tcc>Ccc p.S322P TAF1_ENST00000373790.4_Missense_Mutation_p.S322P|TAF1_ENST00000276072.3_Missense_Mutation_p.S343P|TAF1_ENST00000423759.1_Missense_Mutation_p.S343P P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 322 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GTCCAAATTTTCCCAATCAAC 0.463000 3 27 0 0 0.004672 0 0 OGDHL 55753 broad.mit.edu 37 10 50955175 50955175 + Missense_Mutation SNP G G A rs148413282 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:50955175G>A ENST00000374103.4 - 9 1152 c.1067C>T c.(1066-1068)tCg>tTg p.S356L OGDHL_ENST00000419399.1_Missense_Mutation_p.S299L|OGDHL_ENST00000432695.1_Missense_Mutation_p.S147L NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 356 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGCAACCAGCGACAGAGTGAT 0.592000 4 85 0 0 0.009096 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159782013 159782013 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:159782013G>A ENST00000393975.3 - 2 144 c.141C>T c.(139-141)atC>atT p.I47I NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 2 Collagen-like. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 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) GCACCCAGGGGATCATGGTGG 0.632000 4 21 0 0 0.009096 0 0 SCN10A 6336 broad.mit.edu 37 3 38743472 38743472 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:38743472C>T ENST00000449082.2 - 26 4514 c.4515G>A c.(4513-4515)acG>acA p.T1505T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1505 sensory perception voltage-gated sodium channel complex p.T1505T(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGAATTTTCGTCTTTTCTT 0.453000 5 66 0 0 0.001168 0 0 SLC13A1 6561 broad.mit.edu 37 7 122765666 122765666 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:122765666G>A ENST00000194130.2 - 11 1236 c.1197C>T c.(1195-1197)atC>atT p.I399I SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 399 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TCTTAGCTGGGATAAGAAAGA 0.328000 4 146 0 0 0.001168 0 0 DST 667 broad.mit.edu 37 6 56765251 56765251 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:56765251G>A ENST00000370754.5 - 3 384 c.385C>T c.(385-387)Cac>Tac p.H129Y Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGAACAGAGTGATAAAATTCT 0.408000 11 201 0 0 0.010729 0 0 KCNK9 51305 broad.mit.edu 37 8 140630564 140630564 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:140630564G>A ENST00000520439.1 - 2 1125 c.1062C>T c.(1060-1062)atC>atT p.I354I KCNK9_ENST00000303015.1_Silent_p.I354I Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 354 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) ACCCAGGAGAGATGGAGCTAA 0.502000 5 112 0 0 0.001168 0 0 CFB 629 broad.mit.edu 37 6 31911205 31911205 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:31911205G>A ENST00000456570.1 + 9 1064 c.1009G>A c.(1009-1011)Gag>Aag p.E337K C2_ENST00000469372.1_Missense_Mutation_p.E244K|CFB_ENST00000477310.1_Missense_Mutation_p.E261K|C2_ENST00000299367.5_Missense_Mutation_p.E490K|CFB_ENST00000556679.1_Missense_Mutation_p.E337K|C2_ENST00000452323.2_Missense_Mutation_p.E276K|C2_ENST00000442278.2_Missense_Mutation_p.E358K P00751 CFAB_HUMAN complement factor B 509 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CAAGAGCCAAGAGACCTGCCG 0.592000 7 397 0 0 0.004482 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37785468 37785468 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:37785468G>A ENST00000254079.4 + 2 596 c.127G>A c.(127-129)Gag>Aag p.E43K PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E43K|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E43K|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E7K|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E7K NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B 43 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCGGCTCTCAGAGCACTCCTC 0.647000 6 70 0 0 0.006214 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144867988 144867988 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:144867988C>T ENST00000369359.4 - 36 5897 c.5859G>A c.(5857-5859)caG>caA p.Q1953Q PDE4DIP_ENST00000530740.1_Silent_p.Q1902Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1817Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1711Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.Q1817Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1817 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CACTCCCTTTCTGAGGCCTCA 0.547000 T PDGFRB MPD 10 380 0 0 0.006214 0 0 CDK19 23097 broad.mit.edu 37 6 110942465 110942465 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:110942465C>T ENST00000368911.3 - 12 1398 c.1219G>A c.(1219-1221)Ggg>Agg p.G407R CDK19_ENST00000323817.3_Missense_Mutation_p.G347R|CDK19_ENST00000413605.2_Missense_Mutation_p.G283R NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 407 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 CCTGCGGTCCCGTTGGTCTGG 0.682000 8 94 0 0 0.003080 0 0 RELN 5649 broad.mit.edu 37 7 103163959 103163959 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:103163959G>A ENST00000428762.1 - 47 7528 c.7369C>T c.(7369-7371)Cgt>Tgt p.R2457C RELN_ENST00000343529.5_Missense_Mutation_p.R2457C|RELN_ENST00000424685.2_Missense_Mutation_p.R2457C NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2457 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGATGCCAACGGAAACGAGTG 0.453000 4 66 0 0 0.000602 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716761 13716761 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:13716761G>A ENST00000279593.3 - 13 3620 c.3411C>T c.(3409-3411)ttC>ttT p.F1137F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1137 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.F1137L(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTTTGTTCGGAACTGGTCCA 0.602000 8 48 0 0 0.004482 0 0 NPAP1 23742 broad.mit.edu 37 15 24924106 24924106 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:24924106C>T ENST00000329468.2 + 1 3566 c.3092C>T c.(3091-3093)tCc>tTc p.S1031F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGCCCCAGTTCCACATCAGGA 0.547000 5 44 0 0 0.000602 0 0 OR8U1 219417 broad.mit.edu 37 11 56143558 56143558 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:56143558C>T ENST00000302270.1 + 1 459 c.459C>T c.(457-459)ttC>ttT p.F153F NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GCTATAGCTTCCTAATGGCAC 0.438000 7 114 0 0 0.003080 0 0 ITGA6 3655 broad.mit.edu 37 2 173337518 173337518 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:173337518C>T ENST00000375221.2 + 6 995 c.792C>T c.(790-792)acC>acT p.T264T ITGA6_ENST00000409532.1_Silent_p.T106T|ITGA6_ENST00000343713.4_Silent_p.T220T|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000264106.6_Silent_p.T264T|ITGA6_ENST00000409080.1_Intron P23229 ITA6_HUMAN integrin, alpha 6 264 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TGTTTTTGACCAGCGTTTCCT 0.478000 4 106 0 0 0.009096 0 0 SUN5 140732 broad.mit.edu 37 20 31583443 31583443 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:31583443C>T ENST00000356173.3 - 8 608 c.516G>A c.(514-516)atG>atA p.M172I SUN5_ENST00000375523.3_Missense_Mutation_p.M147I NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 172 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 ACATGGCTTCCATCTCCTGGA 0.493000 7 214 0 0 0.003080 0 0 ESYT3 83850 broad.mit.edu 37 3 138187005 138187005 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:138187005C>T ENST00000389567.4 + 12 1463 c.1277C>T c.(1276-1278)tCa>tTa p.S426L NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 426 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GAGTGGCTTTCATTGCTTACT 0.582000 26 518 0 0 0.007291 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40450601 40450601 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:40450601C>T ENST00000378438.4 + 3 442 c.284C>T c.(283-285)tCg>tTg p.S95L ATP6AP2_ENST00000535777.1_Missense_Mutation_p.S95L|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.S19L|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.S95L NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 95 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 AGTGTCATTTCGTACCCTTTG 0.428000 5 23 0 0 0.000602 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712585 70712585 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:70712585C>T ENST00000530196.1 - 0 1933 NR_003951.1 TATGTGCATCCTTAAATGATA 0.438000 6 64 0 0 0.001168 0 0 TULP2 7288 broad.mit.edu 37 19 49388786 49388786 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49388786C>T ENST00000221399.3 - 9 1124 c.980G>A c.(979-981)aGg>aAg p.R327K NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 327 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGTTTTGCTCCTTCTTCTCTT 0.512000 7 57 0 0 0.001984 0 0 XKR3 150165 broad.mit.edu 37 22 17288877 17288877 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:17288877G>A ENST00000331428.5 - 2 189 c.87C>T c.(85-87)ctC>ctT p.L29L NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 29 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCTTAGATGGAGTCTCTGGC 0.408000 5 76 0 0 0.000602 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638020 234638020 + Missense_Mutation SNP C C T rs143192251 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:234638020C>T ENST00000482026.1 + 1 267 c.248C>T c.(247-249)tCg>tTg p.S83L UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TATGCCATTTCGTGGACCCAG 0.468000 7 84 0 0 0.006214 0 0 P4HB 5034 broad.mit.edu 37 17 79804386 79804386 + Silent SNP G G C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:79804386G>C ENST00000331483.4 - 7 1197 c.975C>G c.(973-975)acC>acG p.T325T P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Silent_p.T281T|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 325 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GCTTGTACTTGGTCATCTCCT 0.612000 5 87 0 0 0.000602 0 0 TNR 7143 broad.mit.edu 37 1 175365770 175365770 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:175365770C>T ENST00000367674.1 - 5 1858 c.1150G>A c.(1150-1152)Gag>Aag p.E384K TNR_ENST00000263525.2_Missense_Mutation_p.E384K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 384 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGCTCCAGCTCCGTGATGGTG 0.597000 4 46 0 0 0.009096 0 0 ZNF285 26974 broad.mit.edu 37 19 44901422 44901422 + Splice_Site SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:44901422C>T ENST00000330997.4 - 2 22 c.e2-1 CTC-512J12.4_ENST00000588655.1_RNA|CTC-512J12.6_ENST00000588212.1_Splice_Site|ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 AAAAGCAGAACTGCAAAGAAG 0.378000 4 70 0 0 0.009096 0 0 OR2G2 81470 broad.mit.edu 37 1 247752384 247752384 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:247752384C>T ENST00000320065.1 + 1 723 c.723C>T c.(721-723)ttC>ttT p.F241F RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGAAAGCATTCGGGACCTGCT 0.502000 4 72 0 0 0.009096 0 0 RINT1 60561 broad.mit.edu 37 7 105183011 105183011 + Missense_Mutation SNP G G A rs139214585 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:105183011G>A ENST00000257700.2 + 4 661 c.430G>A c.(430-432)Gat>Aat p.D144N NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 144 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTGGATGGACGATCTTGGAAC 0.413000 5 76 0 0 0.001984 0 0 PAK3 5063 broad.mit.edu 37 X 110385365 110385365 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:110385365C>T ENST00000519681.1 + 6 659 c.217C>T c.(217-219)Cct>Tct p.P73S PAK3_ENST00000372007.4_Missense_Mutation_p.P73S|PAK3_ENST00000446737.1_Missense_Mutation_p.P73S|PAK3_ENST00000425146.1_Missense_Mutation_p.P73S|PAK3_ENST00000518291.1_Missense_Mutation_p.P73S|PAK3_ENST00000372010.1_Missense_Mutation_p.P73S|PAK3_ENST00000262836.4_Missense_Mutation_p.P73S|PAK3_ENST00000360648.4_Missense_Mutation_p.P73S|PAK3_ENST00000417227.1_Missense_Mutation_p.P73S O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 73 Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity). P -> S (in Ref. 2). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GATCTCTCTTCCTTCAGACTT 0.413000 TSP Lung(19;0.15) 6 104 0 0 0.001984 0 0 HECW1 23072 broad.mit.edu 37 7 43436449 43436449 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:43436449G>A ENST00000395891.1 + 7 1197 c.592G>A c.(592-594)Gga>Aga p.G198R HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.G198R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 198 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GACCGTCCAAGGACAAGGAAG 0.418000 6 70 0 0 0.001168 0 0 GCNT3 9245 broad.mit.edu 37 15 59911184 59911184 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:59911184G>A ENST00000396065.1 + 3 1195 c.747G>A c.(745-747)agG>agA p.R249R GCNT3_ENST00000560585.1_Silent_p.R249R NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 249 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAATGGGAGGAATAGCATGG 0.458000 7 146 0 0 0.003080 0 0 DGKZ 8525 broad.mit.edu 37 11 46395974 46395974 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:46395974C>T ENST00000454345.1 + 17 2120 c.1995C>T c.(1993-1995)agC>agT p.S665S DGKZ_ENST00000318201.8_Silent_p.S454S|DGKZ_ENST00000421244.2_Silent_p.S477S|DGKZ_ENST00000532868.2_Silent_p.S481S|DGKZ_ENST00000343674.6_Silent_p.S493S|DGKZ_ENST00000456247.2_Silent_p.S476S|DGKZ_ENST00000527911.1_Silent_p.S477S|DGKZ_ENST00000395574.3_Silent_p.S443S|DGKZ_ENST00000528615.1_Silent_p.S255S|DGKZ_ENST00000543978.1_Intron NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 665 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AATTCAACAGCCGCTTTCGGA 0.642000 4 70 0 0 0.009096 0 0 DOCK1 1793 broad.mit.edu 37 10 129224221 129224221 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:129224221C>T ENST00000280333.6 + 47 4906 c.4797C>T c.(4795-4797)gcC>gcT p.A1599A NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1599 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GGATGGAGGCCTGTTTCAAAC 0.517000 10 218 0 0 0.006214 0 0 HAO2 51179 broad.mit.edu 37 1 119936434 119936434 + Nonsense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:119936434C>T ENST00000361035.4 + 9 1349 c.1066C>T c.(1066-1068)Cga>Tga p.R356* HAO2_ENST00000325945.3_Nonsense_Mutation_p.R343*|HAO2_ENST00000482991.1_3'UTR NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 343 fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TGAGATCAATCGAAACTTGGT 0.478000 5 125 0 0 0.000602 0 0 TTC17 55761 broad.mit.edu 37 11 43511823 43511823 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:43511823C>T ENST00000039989.4 + 22 3079 c.3065C>T c.(3064-3066)gCc>gTc p.A1022V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1022 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 AGCATGGCAGCCCTCTACTGG 0.522000 6 80 0 0 0.001984 0 0 ABLIM1 3983 broad.mit.edu 37 10 116335274 116335274 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:116335274C>T ENST00000369252.4 - 3 585 c.284G>A c.(283-285)gGg>gAg p.G95E ABLIM1_ENST00000277895.5_Missense_Mutation_p.G155E|ABLIM1_ENST00000533213.2_Missense_Mutation_p.G95E NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 155 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GCAGCGTGTCCCGTACATCCG 0.547000 4 86 0 0 0.009096 0 0 INVS 27130 broad.mit.edu 37 9 103035155 103035155 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:103035155C>T ENST00000262457.2 + 12 1766 c.1581C>T c.(1579-1581)ccC>ccT p.P527P INVS_ENST00000262456.2_Silent_p.P527P|INVS_ENST00000541287.1_Silent_p.P431P NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 527 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) GATACACACCCCTTGATTATG 0.418000 4 141 0 0 0.001168 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104302 142104302 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:142104302G>A ENST00000390379.1 - 0 162 GGGTCTTGTCGATACCAGGAC 0.507000 6 120 0 0 0.001168 0 0 FURIN 5045 broad.mit.edu 37 15 91424025 91424025 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:91424025C>T ENST00000268171.3 + 14 1940 c.1661C>T c.(1660-1662)aCc>aTc p.T554I NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 554 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ATTGAAAACACCAGCGAAGCC 0.562000 13 299 0 0 0.001855 0 0 TRPM2 7226 broad.mit.edu 37 21 45825905 45825905 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:45825905C>T ENST00000397928.1 + 18 3220 c.2775C>T c.(2773-2775)atC>atT p.I925I TRPM2_ENST00000397932.2_Silent_p.I925I|TRPM2_ENST00000300482.5_Silent_p.I925I|TRPM2_ENST00000300481.9_Silent_p.I905I|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 925 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCAAGATCATCATTGTGAAGC 0.642000 9 175 0 0 0.006214 0 0 HMHA1 23526 broad.mit.edu 37 19 1079932 1079932 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:1079932G>A ENST00000313093.2 + 13 1749 c.1518G>A c.(1516-1518)acG>acA p.T506T HMHA1_ENST00000536472.1_Silent_p.T346T|HMHA1_ENST00000543365.1_Silent_p.T389T|HMHA1_ENST00000590577.1_Silent_p.T141T|HMHA1_ENST00000539243.2_Silent_p.T522T|HMHA1_ENST00000590214.1_Silent_p.T533T|HMHA1_ENST00000586866.1_Silent_p.T510T NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 506 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CGCAGGCCACGATCTCCTACT 0.677000 8 115 0 0 0.008291 0 0 MUC17 140453 broad.mit.edu 37 7 100681341 100681341 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100681341C>T ENST00000306151.4 + 3 6708 c.6644C>T c.(6643-6645)cCt>cTt p.P2215L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2215 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTCAACTCCTAGTGAAGGA 0.502000 20 373 0 0 0.012319 0 0 USP2 9099 broad.mit.edu 37 11 119243689 119243689 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:119243689G>A ENST00000260187.2 - 2 796 c.502C>T c.(502-504)Cgc>Tgc p.R168C RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 168 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) ATGGGGCTGCGGCCCAGGTTC 0.632000 5 98 0 0 0.001168 0 0 ZNF616 90317 broad.mit.edu 37 19 52619219 52619219 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:52619219G>A ENST00000600228.1 - 4 1459 c.1198C>T c.(1198-1200)Cga>Tga p.R400* ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 400 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) TGAATTCGTCGATGCACTGCA 0.418000 9 117 0 0 0.004482 0 0 ZGPAT 84619 broad.mit.edu 37 20 62366045 62366045 + Missense_Mutation SNP C C T rs142220817 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:62366045C>T ENST00000328969.5 + 5 1047 c.920C>T c.(919-921)cCg>cTg p.P307L ZGPAT_ENST00000355969.6_Intron|ZGPAT_ENST00000357119.4_Intron|ZGPAT_ENST00000369967.3_Intron|ZGPAT_ENST00000490623.1_Intron|ZGPAT_ENST00000448100.1_Intron NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 307 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GCCCTCTGTCCGTCTCTTGCA 0.627000 5 165 0 0 0.000602 0 0 TRAV8-7 28679 broad.mit.edu 37 14 22600915 22600915 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:22600915G>A ENST00000390456.3 + 0 260 TTTAAGAAGAGCGAAACCTCC 0.507000 3 33 0 0 0.004672 0 0 PRSS37 136242 broad.mit.edu 37 7 141537835 141537835 + Silent SNP G G A rs149011966 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141537835G>A ENST00000350549.3 - 3 626 c.255C>T c.(253-255)atC>atT p.I85I PRSS37_ENST00000438520.1_Silent_p.I85I NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 85 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.I85I(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 AGTAGCGGACGATCTGAATGG 0.507000 11 165 0 0 0.002450 0 0 SH3TC2 79628 broad.mit.edu 37 5 148422290 148422290 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:148422290C>T ENST00000515425.1 - 5 597 c.496G>A c.(496-498)Gaa>Aaa p.E166K SH3TC2_ENST00000512049.1_Missense_Mutation_p.E159K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E51K NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 166 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATATTGTTTCCAGGTGTTTA 0.438000 5 67 0 0 0.001168 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262319 61262319 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:61262319C>T ENST00000344731.5 + 7 774 c.672C>T c.(670-672)ttC>ttT p.F224F SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 224 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCTTCACTTTCCTGGAGGACT 0.433000 4 60 0 0 0.001168 0 0 IGHM 3507 broad.mit.edu 37 14 106321285 106321285 + RNA SNP A A C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:106321285A>C ENST00000390559.2 - 0 703 CTTGGTGAGGAAGATGCTGGC 0.572000 8 181 0 0 0.004482 0 0 STK31 56164 broad.mit.edu 37 7 23793998 23793998 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:23793998G>A ENST00000354639.3 + 10 1593 c.1129G>A c.(1129-1131)Ggg>Agg p.G377R STK31_ENST00000355870.3_Missense_Mutation_p.G400R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.G377R|STK31_ENST00000433467.2_Missense_Mutation_p.G400R NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 400 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTTGGATGAAGGGTGCTTTAC 0.373000 6 83 0 0 0.001984 0 0 SHROOM2 357 broad.mit.edu 37 X 9900855 9900855 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:9900855C>T ENST00000380913.3 + 6 3622 c.3532C>T c.(3532-3534)Ccc>Tcc p.P1178S SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Missense_Mutation_p.P13S NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1178 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCAGTTCGCCCCCCAGAAACT 0.627000 3 20 0 0 0.004672 0 0 ZNF326 284695 broad.mit.edu 37 1 90473073 90473073 + Nonsense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:90473073C>T ENST00000340281.4 + 5 522 c.379C>T c.(379-381)Cag>Tag p.Q127* ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Intron NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 127 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) AGGTAGAAACCAGGGCGGGTC 0.493000 5 164 0 0 0.001168 0 0 TNS4 84951 broad.mit.edu 37 17 38643407 38643407 + Missense_Mutation SNP C C T rs150836111 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:38643407C>T ENST00000254051.6 - 4 1327 c.1169G>A c.(1168-1170)cGg>cAg p.R390Q NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 390 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TCCTGGGGTCCGCTGGGGTGG 0.617000 8 203 0 0 0.003080 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778018 31778018 + Missense_Mutation SNP C C T rs139052456 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:31778018C>T ENST00000375654.4 - 2 1921 c.1732G>A c.(1732-1734)Gag>Aag p.E578K HSPA1L_ENST00000417199.3_Missense_Mutation_p.E578K NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 578 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GAAAGGAGCTCGTTGCATTTA 0.383000 23 713 0 0 0.002780 0 0 SLC6A16 28968 broad.mit.edu 37 19 49797112 49797112 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49797112G>A ENST00000454748.3 - 9 1791 c.1590C>T c.(1588-1590)ttC>ttT p.F530F SLC6A16_ENST00000335875.4_Silent_p.F530F Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 530 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GTTTCCTGAAGAAAGAGAAGG 0.498000 10 197 0 0 0.010729 0 0 ADAM12 8038 broad.mit.edu 37 10 127760074 127760074 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:127760074C>T ENST00000368679.4 - 12 1613 c.1304G>A c.(1303-1305)gGa>gAa p.G435E ADAM12_ENST00000368676.4_Missense_Mutation_p.G435E NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 435 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ACACTCCTCTCCTTCTTCCAC 0.522000 10 121 0 0 0.010729 0 0 TUSC3 7991 broad.mit.edu 37 8 15519760 15519760 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:15519760C>T ENST00000382020.4 + 5 871 c.663C>T c.(661-663)aaC>aaT p.N221N TUSC3_ENST00000503731.1_Silent_p.N221N|TUSC3_ENST00000506802.1_Silent_p.N221N|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Silent_p.N221N NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 221 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GAAGGAACAACTTGGAGTTCA 0.403000 6 111 0 0 0.001984 0 0 HELZ 9931 broad.mit.edu 37 17 65124948 65124948 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:65124948G>A ENST00000358691.5 - 24 3372 c.3206C>T c.(3205-3207)gCc>gTc p.A1069V HELZ_ENST00000580168.1_Missense_Mutation_p.A1070V NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ATGACACAGGGCAATAAACCG 0.343000 4 101 0 0 0.000602 0 0 EGFL6 25975 broad.mit.edu 37 X 13624618 13624618 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:13624618G>A ENST00000361306.1 + 6 898 c.641G>A c.(640-642)cGa>cAa p.R214Q EGFL6_ENST00000380602.3_Missense_Mutation_p.R214Q NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 214 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 ATCAGTGGACGATATGACTGT 0.403000 6 55 0 0 0.001984 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964610 39964610 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:39964610G>A ENST00000599117.1 + 27 2867 c.2500G>A c.(2500-2502)Gaa>Aaa p.E834K SUPT5H_ENST00000598725.1_Missense_Mutation_p.E834K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E830K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E830K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E834K O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 834 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGGGCTGAGGAAGAATATGA 0.562000 OREG0025462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 101 0 0 0.001984 0 0 HOXB1 3211 broad.mit.edu 37 17 46607131 46607131 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:46607131C>T ENST00000239174.6 - 2 776 c.684G>A c.(682-684)ctG>ctA p.L228L HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 228 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGCCCGGCTCAGGTACTTGT 0.572000 8 200 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179616599 179616599 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:179616599G>A ENST00000360870.5 - 46 10750 c.10528C>T c.(10528-10530)Ctt>Ttt p.L3510F TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3509 Ig-like 21. 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) TTAAATGTAAGTTTCTGGGTA 0.373000 6 116 0 0 0.001168 0 0 SRPK3 26576 broad.mit.edu 37 X 153050922 153050922 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:153050922G>A ENST00000489426.1 + 21 4218 c.1852G>A c.(1852-1854)Gaa>Aaa p.E618K SRPK3_ENST00000370108.3_Missense_Mutation_p.E518K|SRPK3_ENST00000370104.1_Missense_Mutation_p.E550K|SRPK3_ENST00000393786.3_Missense_Mutation_p.E517K|SRPK3_ENST00000370101.3_Missense_Mutation_p.E551K|SRPK3_ENST00000370100.1_Missense_Mutation_p.E476K Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 551 cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GTACATCCCCGAAAAGCGGGC 0.617000 4 58 0 0 0.009096 0 0 OR10K2 391107 broad.mit.edu 37 1 158389802 158389802 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:158389802G>A ENST00000314902.2 - 1 854 c.855C>T c.(853-855)ttC>ttT p.F285F NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TCATTGGGTTGAACAATGGAG 0.358000 6 66 0 0 0.001984 0 0 TSSK3 81629 broad.mit.edu 37 1 32829396 32829396 + Missense_Mutation SNP C C T rs138699524 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:32829396C>T ENST00000373534.3 + 2 851 c.346C>T c.(346-348)Cgt>Tgt p.R116C FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 116 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) GGCCCTCTTCCGTCAGATGGT 0.597000 7 95 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61537302 61537302 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:61537302G>A ENST00000266070.4 - 6 1850 c.1525C>T c.(1525-1527)Cac>Tac p.H509Y DIDO1_ENST00000395343.1_Missense_Mutation_p.H509Y|DIDO1_ENST00000370368.1_Missense_Mutation_p.H509Y|DIDO1_ENST00000370371.4_Missense_Mutation_p.H509Y|DIDO1_ENST00000370366.1_Missense_Mutation_p.H509Y|DIDO1_ENST00000354665.4_Missense_Mutation_p.H509Y|DIDO1_ENST00000266071.5_Missense_Mutation_p.H509Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.H509Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.H509Y NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 509 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTGTAATTGTGATCGCTCGCC 0.557000 6 159 0 0 0.001168 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673373 141673373 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141673373C>T ENST00000547270.1 - 1 200 c.117G>A c.(115-117)gtG>gtA p.V39V NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 39 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CCCAAAAATTCACCAAGAAAA 0.493000 6 76 0 0 0.001168 0 0 FLG 2312 broad.mit.edu 37 1 152280468 152280468 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152280468G>A ENST00000368799.1 - 3 6929 c.6894C>T c.(6892-6894)agC>agT p.S2298S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2298 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTGTCTGGAGCTCTCTGCAG 0.542000 Ichthyosis 7 351 0 0 0.003080 0 0 HNF4G 3174 broad.mit.edu 37 8 76465357 76465357 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:76465357G>A ENST00000396423.2 + 5 664 c.540G>A c.(538-540)atG>atA p.M180I HNF4G_ENST00000354370.1_Missense_Mutation_p.M143I NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 143 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GTGAATCTATGAAACAGCAGC 0.368000 4 60 0 0 0.009096 0 0 ALDH3A1 218 broad.mit.edu 37 17 19646769 19646769 + Missense_Mutation SNP C C A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:19646769C>A ENST00000457500.2 - 2 499 c.170G>T c.(169-171)tGg>tTg p.W57L ALDH3A1_ENST00000225740.6_Missense_Mutation_p.W57L|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.W57L|ALDH3A1_ENST00000494157.2_5'UTR|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.W57L NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 57 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) GTAGGCGTTCCATTCATTCTG 0.627000 4 89 0.00909568 0.00990317 0.009096 1 0 IGHV1-18 28468 broad.mit.edu 37 14 106641603 106641603 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:106641603C>T ENST00000390605.2 - 0 369 AGATCTCAGGCTCCTCAGCTC 0.542000 6 221 0 0 0.001984 0 0 OR1L1 26737 broad.mit.edu 37 9 125424061 125424061 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:125424061G>A ENST00000373686.1 + 1 217 c.217G>A c.(217-219)Gat>Aat p.D73N Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TCGACCTGAGGATCAGAAGCC 0.478000 4 49 0 0 0.009096 0 0 RCL1 10171 broad.mit.edu 37 9 4826886 4826886 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:4826886C>T ENST00000381750.4 + 3 460 c.237C>T c.(235-237)ctC>ctT p.L79L RCL1_ENST00000381732.3_Silent_p.L79L NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 79 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) AGCCTGGCCTCCTGTATGGTG 0.438000 12 190 0 0 0.010729 0 0 MYH2 4620 broad.mit.edu 37 17 10440596 10440596 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10440596C>T ENST00000245503.5 - 16 2235 c.1851G>A c.(1849-1851)atG>atA p.M617I MYH2_ENST00000532183.1_Missense_Mutation_p.M617I|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M617I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 617 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP 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 CTAGAGTTTTCATTGCAGACT 0.438000 8 189 0 0 0.004482 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925237 4925237 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrY:4925237C>T ENST00000333703.4 + 4 853 c.340C>T c.(340-342)Cgt>Tgt p.R114C PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R125C|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R125C NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 125 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCGCATTGATCGTGAGAAATT 0.443000 9 79 0 0 0.006214 0 0 IQCH 64799 broad.mit.edu 37 15 67664976 67664976 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:67664976G>A ENST00000335894.4 + 9 1347 c.1281G>A c.(1279-1281)ctG>ctA p.L427L IQCH_ENST00000360277.4_Silent_p.L179L|IQCH_ENST00000546225.1_Silent_p.L175L|IQCH_ENST00000358767.3_Silent_p.L254L NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 427 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) AGAGACACCTGGAGAATTTTC 0.448000 4 130 0 0 0.000602 0 0 DET1 55070 broad.mit.edu 37 15 89074606 89074606 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:89074606G>A ENST00000564406.1 - 3 524 c.364C>T c.(364-366)Cag>Tag p.Q122* DET1_ENST00000444300.1_Nonsense_Mutation_p.Q122*|DET1_ENST00000558413.1_Nonsense_Mutation_p.Q66*|DET1_ENST00000268148.8_Nonsense_Mutation_p.Q111* NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 111 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) ACTGACCGCTGGTCATTGCCA 0.532000 4 61 0 0 0.009096 0 0 OR4N2 390429 broad.mit.edu 37 14 20296445 20296445 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:20296445C>T ENST00000315947.1 + 1 838 c.838C>T c.(838-840)Cct>Tct p.P280S OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGATTTTTCCTTTGTTGAA 0.438000 5 99 0 0 0.000602 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:55890037C>T ENST00000313472.3 + 1 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 8 258 0 0 0.006214 0 0 RHBDL1 9028 broad.mit.edu 37 16 727045 727045 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:727045G>A ENST00000219551.2 + 3 723 c.696G>A c.(694-696)aaG>aaA p.K232K RHBDL1_ENST00000352681.3_Silent_p.K167K O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 232 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) AGTACATGAAGAGCCCCCTTG 0.622000 4 43 0 0 0.000602 0 0 ZPBP 11055 broad.mit.edu 37 7 50121463 50121463 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:50121463G>A ENST00000046087.2 - 3 310 c.241C>T c.(241-243)Cca>Tca p.P81S ZPBP_ENST00000419417.1_Missense_Mutation_p.P81S NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 81 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AACACGTGTGGACTCTTTTGA 0.358000 4 45 0 0 0.009096 0 0 SPATA8 145946 broad.mit.edu 37 15 97328248 97328248 + Missense_Mutation SNP G G A rs145348357 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:97328248G>A ENST00000558553.1 + 3 246 c.97G>A c.(97-99)Gat>Aat p.D33N SPATA8_ENST00000328504.3_Silent_p.R73R Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 0 p.R73R(1) large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CTCACGGAAGGATCCAAAGGG 0.453000 5 115 0 0 0.001168 0 0 PDHA2 5161 broad.mit.edu 37 4 96761738 96761738 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:96761738G>A ENST00000295266.4 + 1 500 c.437G>A c.(436-438)gGa>gAa p.G146E NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 146 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.G146E(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TGTGCTAAAGGAAAAGGAGGA 0.532000 4 60 0 0 0.009096 0 0 OR52B2 255725 broad.mit.edu 37 11 6190586 6190586 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:6190586C>T ENST00000530810.1 - 1 1052 c.971G>A c.(970-972)tGa>tAa p.*324* RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGAAGATTCATGAGCCCAG 0.468000 6 69 0 0 0.001168 0 0 PLXNA4 91584 broad.mit.edu 37 7 131878833 131878833 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:131878833G>A ENST00000359827.3 - 14 3806 c.2844C>T c.(2842-2844)ctC>ctT p.L948L PLXNA4_ENST00000321063.4_Silent_p.L948L Q9HCM2 PLXA4_HUMAN plexin A4 948 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGAAGTAATAGAGCTGTGAGG 0.582000 4 51 0 0 0.000602 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026429 129026429 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:129026429G>A ENST00000259241.6 - 2 556 c.543C>T c.(541-543)atC>atT p.I181I NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 181 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GTAGCAGGGTGATGTAGTAGA 0.612000 6 35 0 0 0.001168 0 0 ZXDA 7789 broad.mit.edu 37 X 57934541 57934541 + Missense_Mutation SNP A A C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:57934541A>C ENST00000358697.4 - 1 2526 c.2314T>G c.(2314-2316)Ttt>Gtt p.F772V NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 772 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GGGAATCCAAACTGGGTTTCT 0.453000 6 36 0 0 0.001168 0 0 MOB3C 148932 broad.mit.edu 37 1 47075794 47075794 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:47075794G>A ENST00000371940.1 - 2 3644 c.570C>T c.(568-570)atC>atT p.I190I MOB3C_ENST00000319928.3_Silent_p.I167I|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Silent_p.I219I Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 167 metal ion binding CGAAGTGGTGGATGTAGACAT 0.562000 5 98 0 0 0.000602 0 0 SLIT1 6585 broad.mit.edu 37 10 98763970 98763970 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:98763970C>T ENST00000266058.4 - 34 3965 c.3720G>A c.(3718-3720)acG>acA p.T1240T ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.T1240T NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1240 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CATCGTTGATCGTCTCAGCAC 0.572000 5 166 0 0 0.001168 0 0 RIOK1 83732 broad.mit.edu 37 6 7405486 7405486 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:7405486C>T ENST00000379834.2 + 12 1608 c.1101C>T c.(1099-1101)ttC>ttT p.F367F NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 367 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) TGACAGATTTCTTTATGAGGC 0.363000 4 34 0 0 0.000602 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42386655 42386655 + Translation_Start_Site SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:42386655C>T ENST00000290472.3 - 1 97 c.3G>A c.(1-3)atG>atA p.M1I NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 1 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) ACAGGCTCTCCATGCTAGCCC 0.637000 4 57 0 0 0.000602 0 0 KCNK9 51305 broad.mit.edu 37 8 140630831 140630831 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:140630831G>A ENST00000520439.1 - 2 858 c.795C>T c.(793-795)gcC>gcT p.A265A KCNK9_ENST00000303015.1_Silent_p.A265A Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 265 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TGCGGTTTCCGGCGAGGGATG 0.627000 6 65 0 0 0.001168 0 0 OR1L8 138881 broad.mit.edu 37 9 125330478 125330478 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:125330478G>A ENST00000304865.2 - 1 360 c.279C>T c.(277-279)atC>atT p.I93I NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CAGCATAGGAGATGGTCTTCT 0.463000 8 78 0 0 0.003080 0 0 CARS 833 broad.mit.edu 37 11 3041490 3041490 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:3041490G>A ENST00000397114.3 - 11 1323 c.947C>T c.(946-948)tCt>tTt p.S316F CARS_ENST00000397111.5_Missense_Mutation_p.S326F|CARS_ENST00000278224.9_Missense_Mutation_p.S326F|CARS_ENST00000380525.4_Missense_Mutation_p.S409F|CARS_ENST00000401769.3_Missense_Mutation_p.S339F P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 326 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TCCGGGCTTAGAGGCCTTCCA 0.627000 T ALK ALCL 5 75 0 0 0.001984 0 0 FSIP2 401024 broad.mit.edu 37 2 186671831 186671831 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:186671831C>T ENST00000343098.5 + 17 18065 c.18065C>T c.(18064-18066)tCt>tTt p.S6022F FSIP2_ENST00000424728.1_Missense_Mutation_p.S5933F NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TCTCAAGACTCTATTTGGAAG 0.308000 4 73 0 0 0.009096 0 0 GNAT2 2780 broad.mit.edu 37 1 110146621 110146621 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:110146621C>T ENST00000351050.3 - 7 1012 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 276 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity p.E276K(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTGATTTTTTCCTCAAAGAGG 0.393000 6 53 0 0 0.001168 0 0 SYDE2 84144 broad.mit.edu 37 1 85656401 85656401 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:85656401C>T ENST00000341460.5 - 2 829 c.780G>A c.(778-780)aaG>aaA p.K260K NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 260 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GTTCTCTTCCCTTCATTGAAG 0.358000 5 174 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9060704 9060704 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9060704G>A ENST00000397910.4 - 3 26945 c.26742C>T c.(26740-26742)atC>atT p.I8914I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8916 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATCTGAGGTGATATTCATAC 0.498000 6 164 0 0 0.001984 0 0 MDM4 4194 broad.mit.edu 37 1 204518492 204518492 + Silent SNP T T A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:204518492T>A ENST00000367182.3 + 11 1317 c.1155T>A c.(1153-1155)ctT>ctA p.L385L MDM4_ENST00000454264.2_Silent_p.L335L|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Silent_p.L59L|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000463049.1_3'UTR NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 385 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ACTCCAAACTTTTTGATCCCT 0.413000 A """GBM, bladder, retinoblastoma""" 5 93 0 0 0.001168 0 0 ANKRD16 54522 broad.mit.edu 37 10 5920125 5920125 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:5920125G>A ENST00000380094.5 - 7 1597 c.1054C>T c.(1054-1056)Ctt>Ttt p.L352F ANKRD16_ENST00000380092.4_Missense_Mutation_p.L352F|ANKRD16_ENST00000191063.8_3'UTR NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 352 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 GAGCCCTGAAGGACATCTGCT 0.512000 5 216 0 0 0.000602 0 0 ZIM3 114026 broad.mit.edu 37 19 57648268 57648268 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:57648268C>T ENST00000269834.1 - 4 599 c.214G>A c.(214-216)Gag>Aag p.E72K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCACTTCCTCTTCCTCCAAC 0.522000 5 87 0 0 0.000602 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269887 150269887 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150269887C>T ENST00000255945.2 + 3 904 c.729C>T c.(727-729)ctC>ctT p.L243L GIMAP4_ENST00000461940.1_Silent_p.L257L|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 243 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAAGAACTCCACAGAGTGG 0.483000 4 32 0 0 0.009096 0 0 COL15A1 1306 broad.mit.edu 37 9 101797632 101797632 + Splice_Site SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:101797632G>A ENST00000375001.3 + 19 2644 c.2220_splice c.e19-1 p.D741_splice NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 741 Nonhelical region 3 (NC3). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCTTCCCCAGGATACCGAAGG 0.532000 5 78 0 0 0.000602 0 0 SAGE1 55511 broad.mit.edu 37 X 134993456 134993456 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:134993456G>A ENST00000535938.1 + 17 2278 c.2111G>A c.(2110-2112)gGa>gAa p.G704E SAGE1_ENST00000370709.3_Missense_Mutation_p.G704E|SAGE1_ENST00000324447.3_Missense_Mutation_p.G704E|SAGE1_ENST00000537770.1_Missense_Mutation_p.G328E NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 704 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) AATCTGTCAGGAGCTGGTATT 0.468000 7 54 0 0 0.001984 0 0 LOC645752 645752 broad.mit.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:78212571G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGTGTCACGTGTGCGTTCA 0.572000 4 40 0 0 0.000602 0 0 C3 718 broad.mit.edu 37 19 6696669 6696669 + Splice_Site SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:6696669G>A ENST00000245907.6 - 22 2890 c.2796_splice c.e22-1 p.P933_splice NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 933 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GATTCCTTCCGGCTACGCAGT 0.572000 7 172 0 0 0.003080 0 0 HDAC11 79885 broad.mit.edu 37 3 13544405 13544405 + Missense_Mutation SNP T T C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:13544405T>C ENST00000295757.3 + 8 757 c.574T>C c.(574-576)Ttc>Ctc p.F192L HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Missense_Mutation_p.F92L|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Missense_Mutation_p.F113L|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000433119.1_Silent_p.T149T|HDAC11_ENST00000437379.2_Missense_Mutation_p.F164L|HDAC11_ENST00000522202.1_Missense_Mutation_p.F141L|HDAC11_ENST00000405025.1_Intron NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 192 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 TGAGCGAGACTTCATGGACGA 0.612000 7 255 0 0 0.003080 0 0 OR52I1 390037 broad.mit.edu 37 11 4615434 4615434 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:4615434G>A ENST00000450052.2 + 2 238 c.238G>A c.(238-240)Gat>Aat p.D80N OR52I1_ENST00000530443.2_Missense_Mutation_p.D56N Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATCTGGATGGATTCCACTCG 0.502000 7 134 0 0 0.001984 0 0 MKI67 4288 broad.mit.edu 37 10 129906972 129906972 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:129906972G>A ENST00000368654.3 - 13 3507 c.3132C>T c.(3130-3132)ttC>ttT p.F1044F MKI67_ENST00000368653.3_Silent_p.F684F NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1044 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACGTCCGTGTGAACTTGCCGA 0.522000 10 296 0 0 0.010729 0 0 CSMD1 64478 broad.mit.edu 37 8 2813237 2813237 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:2813237C>T ENST00000520002.1 - 65 10426 c.9871G>A c.(9871-9873)Gat>Aat p.D3291N CSMD1_ENST00000602723.1_Missense_Mutation_p.D3114N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3114N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3291N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3113N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3290N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3291 Sushi 28. 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) GTAGGAAGATCGATGGCTCTC 0.473000 6 94 0 0 0.001168 0 0 WIF1 11197 broad.mit.edu 37 12 65462650 65462650 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:65462650C>T ENST00000286574.4 - 4 806 c.432G>A c.(430-432)caG>caA p.Q144Q NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 144 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CCACCCCATCCTGTTTTCCAA 0.358000 T HMGA2 pleomorphic salivary gland adenoma 4 58 0 0 0.000602 0 0 OR9G4 283189 broad.mit.edu 37 11 56510443 56510443 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:56510443G>A ENST00000302957.3 - 1 844 c.845C>T c.(844-846)tCc>tTc p.S282F NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CCTCTCTAGGGAGTAGGTGGA 0.468000 4 87 0 0 0.009096 0 0 PHF20L1 51105 broad.mit.edu 37 8 133790096 133790096 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:133790096C>T ENST00000395386.2 + 2 321 c.22C>T c.(22-24)Cgc>Tgc p.R8C PHF20L1_ENST00000395390.2_Missense_Mutation_p.R8C|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R8C|PHF20L1_ENST00000395383.1_Missense_Mutation_p.R8C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R8C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R8C|PHF20L1_ENST00000315808.10_Missense_Mutation_p.R8C|PHF20L1_ENST00000220847.7_5'UTR NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 8 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCCCCCAAATCGCCCTGGAAT 0.368000 5 87 0 0 0.001168 0 0 TAP2 6891 broad.mit.edu 37 6 32782883 32782883 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:32782883G>A ENST00000452392.2 - 13 2293 c.2120C>T c.(2119-2121)gCc>gTc p.A707V HLA-DOB_ENST00000438763.2_Missense_Mutation_p.A100V Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding CCCATCCACGGCCTGTCTGCT 0.592000 4 42 0 0 0.009096 0 0 NTRK2 4915 broad.mit.edu 37 9 87359971 87359971 + Missense_Mutation SNP G G A rs142393662 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:87359971G>A ENST00000304053.6 + 11 1762 c.1279G>A c.(1279-1281)Ggt>Agt p.G427S NTRK2_ENST00000359847.3_Missense_Mutation_p.G427S|NTRK2_ENST00000395866.2_Missense_Mutation_p.G271S|NTRK2_ENST00000376208.1_Missense_Mutation_p.G427S|NTRK2_ENST00000395882.1_Missense_Mutation_p.G427S|NTRK2_ENST00000323115.4_Missense_Mutation_p.G427S|NTRK2_ENST00000376214.1_Missense_Mutation_p.G427S|NTRK2_ENST00000376213.1_Missense_Mutation_p.G427S|NTRK2_ENST00000277120.3_Missense_Mutation_p.G427S NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 427 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGATAAAACCGGTCGGGAACA 0.458000 TSP Lung(25;0.17) 5 88 0 0 0.000602 0 0 THEMIS 387357 broad.mit.edu 37 6 128134948 128134948 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:128134948C>T ENST00000368250.1 - 5 1099 c.601G>A c.(601-603)Gag>Aag p.E201K THEMIS_ENST00000537166.1_Missense_Mutation_p.E245K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E280K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E280K Q8N1K5 THMS1_HUMAN thymocyte selection associated 280 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway 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 ATGGGGAACTCTTTACTAGTC 0.408000 6 111 0 0 0.001984 0 0 ASMT 438 broad.mit.edu 37 X 1742160 1742160 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:1742160C>T ENST00000381241.3 + 2 397 c.198C>T c.(196-198)atC>atT p.I66I ASMT_ENST00000381229.4_Silent_p.I66I|ASMT_ENST00000381233.3_Silent_p.I66I NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 66 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) TGCTGGACATCTGTGTGTCCC 0.612000 5 41 0 0 0.000602 0 0 CHST12 55501 broad.mit.edu 37 7 2473134 2473134 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:2473134C>T ENST00000258711.6 + 2 995 c.860C>T c.(859-861)tCg>tTg p.S287L NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 287 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGCCCGCCTCGGCGCGCGAG 0.652000 4 68 0 0 0.009096 0 0 BRINP1 1620 broad.mit.edu 37 9 121929525 121929525 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:121929525G>A ENST00000265922.3 - 8 2584 c.2123C>T c.(2122-2124)cCt>cTt p.P708L DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 708 cell cycle arrest|cell death cytoplasm protein binding 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 GGCCACAGGAGGGGCCAGGCG 0.562000 5 100 0 0 0.000602 0 0 OR6V1 346517 broad.mit.edu 37 7 142749644 142749644 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:142749644C>T ENST00000418316.1 + 1 228 c.207C>T c.(205-207)atC>atT p.I69I NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TGCTGGAGATCTTGGTAACCA 0.493000 7 184 0 0 0.003080 0 0 RFX7 64864 broad.mit.edu 37 15 56386321 56386321 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:56386321G>A ENST00000423270.1 - 9 3604 c.3605C>T c.(3604-3606)cCa>cTa p.P1202L RFX7_ENST00000559447.2_Missense_Mutation_p.P1105L|RFX7_ENST00000422057.1_Missense_Mutation_p.P1105L|RFX7_ENST00000317318.6_Missense_Mutation_p.P1202L NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 1105 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 ATGAACTTCTGGGGTAACTGG 0.458000 5 137 0 0 0.000602 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 8 30 0 0 0.003163 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 8 154 0 0 0.003080 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724446 7724446 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:7724446C>T ENST00000303635.7 + 9 2046 c.1839C>T c.(1837-1839)tcC>tcT p.S613S CAMTA1_ENST00000439411.2_Silent_p.S613S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGACCCCCTCCCCGAGCTTCT 0.642000 T WWTR1 epitheliod hemangioendothelioma 5 130 0 0 0.000602 0 0 COL14A1 7373 broad.mit.edu 37 8 121381652 121381652 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:121381652C>T ENST00000297848.3 + 47 5509 c.5239C>T c.(5239-5241)Cct>Tct p.P1747S COL14A1_ENST00000247781.3_Missense_Mutation_p.P1652S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1747S NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1747 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.P1747S(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTGGGGGTTCCTGGACCCCA 0.597000 7 75 0 0 0.001984 0 0 TRPM4 54795 broad.mit.edu 37 19 49671280 49671280 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49671280C>T ENST00000252826.5 + 4 500 c.374C>T c.(373-375)tCg>tTg p.S125L TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.S125L NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 125 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTGGGGGGATCGGGGGGCCCC 0.677000 10 139 0 0 0.006214 0 0 MYH2 4620 broad.mit.edu 37 17 10432356 10432356 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10432356C>T ENST00000245503.5 - 27 3779 c.3395G>A c.(3394-3396)cGg>cAg p.R1132Q MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132Q|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1132 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP 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 CCGGGAGGCCCGCTCTGCCTC 0.602000 5 55 0 0 0.001168 0 0 IGSF22 283284 broad.mit.edu 37 11 18745706 18745706 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:18745706C>T ENST00000513874.1 - 2 217 c.78G>A c.(76-78)caG>caA p.Q26Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 26 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GGGAGAAGGTCTGCACGTGGG 0.602000 7 124 0 0 0.001984 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48216840 48216840 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:48216840G>A ENST00000316878.6 - 8 1969 c.1967C>T c.(1966-1968)tCc>tTc p.S656F AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 656 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 GTCCACAGGGGACAGTGCATC 0.617000 7 178 0 0 0.004482 0 0 FLRT2 23768 broad.mit.edu 37 14 86088459 86088459 + Nonsense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:86088459C>T ENST00000330753.4 + 2 1368 c.601C>T c.(601-603)Cag>Tag p.Q201* FLRT2_ENST00000554746.1_Nonsense_Mutation_p.Q201* NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 201 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CATGGCCTTCCAGAATCTCAC 0.522000 5 98 0 0 0.000602 0 0 ABL2 27 broad.mit.edu 37 1 179078028 179078028 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:179078028G>A ENST00000502732.1 - 12 2577 c.2374C>T c.(2374-2376)Cca>Tca p.P792S ABL2_ENST00000344730.3_Missense_Mutation_p.P674S|ABL2_ENST00000512653.1_Missense_Mutation_p.P777S|ABL2_ENST00000507173.1_Missense_Mutation_p.P668S|ABL2_ENST00000408940.3_Missense_Mutation_p.P756S|ABL2_ENST00000511413.1_Missense_Mutation_p.P689S|ABL2_ENST00000504405.1_Missense_Mutation_p.P653S|ABL2_ENST00000367623.4_Missense_Mutation_p.P771S NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 792 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCCTGCTCTGGAAGCCCTGAG 0.517000 T ETV6 AML 16 111 0 0 0.004990 0 0 NEB 4703 broad.mit.edu 37 2 152506779 152506779 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:152506779G>A ENST00000427231.2 - 54 7544 c.7342C>T c.(7342-7344)Cgt>Tgt p.R2448C NEB_ENST00000409198.1_Missense_Mutation_p.R2448C|NEB_ENST00000172853.10_Missense_Mutation_p.R2448C|NEB_ENST00000604864.1_Missense_Mutation_p.R2448C|NEB_ENST00000397345.3_Missense_Mutation_p.R2448C|NEB_ENST00000603639.1_Missense_Mutation_p.R2448C NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2448 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.R2448C(2) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGAGGCTGACGATATTTCTTC 0.463000 4 73 0 0 0.009096 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256046 15256046 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:15256046G>A ENST00000378116.4 - 8 1547 c.1541C>T c.(1540-1542)aCc>aTc p.T514I NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 514 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTCCTGAATGGTGAGTTTGCT 0.512000 7 148 0 0 0.001984 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064107 6064107 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:6064107G>A ENST00000409021.3 - 10 1941 c.1492C>T c.(1492-1494)Ctg>Ttg p.L498L JAKMIP1_ENST00000409831.1_Silent_p.L498L|JAKMIP1_ENST00000282924.5_Silent_p.L498L|JAKMIP1_ENST00000409371.3_Silent_p.L313L|JAKMIP1_ENST00000410077.2_Silent_p.L333L NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 498 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 GCGCGTTGCAGGGCCTGGTAC 0.627000 4 79 0 0 0.009096 0 0 SUN1 23353 broad.mit.edu 37 7 909027 909027 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:909027C>T ENST00000456758.2 + 23 2589 c.2589C>T c.(2587-2589)tcC>tcT p.S863S SUN1_ENST00000401592.1_Silent_p.S674S|SUN1_ENST00000405266.1_Silent_p.S711S|SUN1_ENST00000413514.2_Silent_p.S472S|SUN1_ENST00000389574.3_Silent_p.S591S|SUN1_ENST00000425407.2_Silent_p.S591S|SUN1_ENST00000452783.2_Silent_p.S571S O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 701 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTAAAGGCTCCCAGGGGTACC 0.547000 10 151 0 0 0.010729 0 0 TIPRL 261726 broad.mit.edu 37 1 168153168 168153168 + Missense_Mutation SNP C C G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:168153168C>G ENST00000367833.2 + 2 278 c.133C>G c.(133-135)Ctc>Gtc p.L45V TIPRL_ENST00000367830.3_Missense_Mutation_p.L45V NM_152902.3 NP_690866.1 O75663 TIPRL_HUMAN TIP41, TOR signaling pathway regulator-like (S. cerevisiae) 45 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) TATGCCATCTCTCCCTGAAAT 0.383000 4 74 0 0 0.009096 0 0 MROH7 374977 broad.mit.edu 37 1 55119589 55119589 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:55119589C>T ENST00000414150.2 + 3 1268 c.990C>T c.(988-990)atC>atT p.I330I MROH7_ENST00000421030.2_Silent_p.I330I|MROH7_ENST00000339553.5_Silent_p.I330I|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.I330I maestro heat-like repeat family member 7 TGACTCTAATCCTGGGTTCCA 0.557000 5 90 0 0 0.000602 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054691 67054691 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:67054691C>T ENST00000295568.4 + 3 1353 c.1222C>T c.(1222-1224)Cat>Tat p.H408Y KBTBD8_ENST00000417314.2_Missense_Mutation_p.H434Y|KBTBD8_ENST00000460576.1_Intron NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 434 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AATGGAATTTCATAATGCTGT 0.413000 7 114 0 0 0.001984 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781607 128781607 + Missense_Mutation SNP G G A rs148355179 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:128781607G>A ENST00000529694.1 + 2 815 c.439G>A c.(439-441)Gaa>Aaa p.E147K KCNJ5_ENST00000533599.1_Missense_Mutation_p.E147K|KCNJ5_ENST00000338350.4_Missense_Mutation_p.E147K NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 147 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.E147K(1) NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CATTGAGACCGAAACAACCAT 0.527000 6 133 0 0 0.003080 0 0 CDC20 991 broad.mit.edu 37 1 43825722 43825722 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:43825722C>T ENST00000372462.1 + 4 713 c.510C>T c.(508-510)tcC>tcT p.S170S CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Silent_p.S170S Q12834 CDC20_HUMAN cell division cycle 20 170 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|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 cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACATTCCTTCCCTGCCAGACC 0.532000 9 199 0 0 0.001855 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720636 140720636 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:140720636G>A ENST00000394576.2 + 1 2098 c.2098G>A c.(2098-2100)Gtc>Atc p.V700I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCCGCGGTCTCCTGCGT 0.662000 5 163 0 0 0.000602 0 0 DYSF 8291 broad.mit.edu 37 2 71795405 71795405 + Missense_Mutation SNP A A T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:71795405A>T ENST00000258104.3 + 26 3024 c.2747A>T c.(2746-2748)gAc>gTc p.D916V DYSF_ENST00000409651.1_Missense_Mutation_p.D948V|DYSF_ENST00000394120.2_Missense_Mutation_p.D917V|DYSF_ENST00000409744.1_Missense_Mutation_p.D903V|DYSF_ENST00000429174.2_Missense_Mutation_p.D916V|DYSF_ENST00000410020.3_Missense_Mutation_p.D934V|DYSF_ENST00000410041.1_Missense_Mutation_p.D934V|DYSF_ENST00000409762.1_Missense_Mutation_p.D933V|DYSF_ENST00000409366.1_Missense_Mutation_p.D917V|DYSF_ENST00000413539.2_Missense_Mutation_p.D947V|DYSF_ENST00000409582.3_Missense_Mutation_p.D933V NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 916 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTACCCAAGGACAGCTTCCGC 0.622000 7 368 0 0 0.001984 0 0 PUM1 9698 broad.mit.edu 37 1 31406064 31406064 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:31406064G>A ENST00000373747.3 - 22 3663 c.3564C>T c.(3562-3564)atC>atT p.I1188I PUM1_ENST00000257075.5_Silent_p.I1185I|PUM1_ENST00000440538.2_Silent_p.I1161I|PUM1_ENST00000373741.4_Silent_p.I1223I|PUM1_ENST00000424085.2_Silent_p.I943I|PUM1_ENST00000373742.2_Silent_p.I1126I|PUM1_ENST00000423018.2_Silent_p.I1043I|PUM1_ENST00000426105.2_Silent_p.I1187I NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 1185 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGCCTCAGATGATACCATTAG 0.522000 6 127 0 0 0.001984 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696918 38696918 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38696918G>A ENST00000396832.1 - 5 636 c.376C>T c.(376-378)Cac>Tac p.H126Y CSNK1E_ENST00000359867.3_Missense_Mutation_p.H126Y|CSNK1E_ENST00000413574.2_Missense_Mutation_p.H126Y|CSNK1E_ENST00000405675.3_Missense_Mutation_p.H126Y|CSNK1E_ENST00000403904.1_Missense_Mutation_p.H126Y|CSNK1E_ENST00000400206.2_Missense_Mutation_p.H126Y NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 126 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) ACGTCCCGGTGGATGAAGTTC 0.597000 7 65 0 0 0.003080 0 0 SNHG14 104472715 broad.mit.edu 37 15 25477542 25477542 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:25477542G>A ENST00000453082.2 + 0 1700 SNORD115-34_ENST00000362441.1_RNA NR_003343.1 TTGGGTCAATGATGAGAACCT 0.498000 7 223 0 0 0.006214 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919918 12919918 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:12919918C>T ENST00000240189.2 + 3 745 c.658C>T c.(658-660)Ctg>Ttg p.L220L NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 220 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGGCCACATCTGATAAGAAA 0.378000 6 115 0 0 0.001168 0 0 PKHD1 5314 broad.mit.edu 37 6 51774190 51774190 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:51774190G>A ENST00000371117.3 - 40 6848 c.6573C>T c.(6571-6573)tcC>tcT p.S2191S PKHD1_ENST00000340994.4_Silent_p.S2191S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2191 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTTCTGGGAAGGACTGAACGA 0.498000 8 198 0 0 0.003080 0 0 KIAA0355 9710 broad.mit.edu 37 19 34833122 34833122 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:34833122C>T ENST00000299505.6 + 10 3156 c.2283C>T c.(2281-2283)tcC>tcT p.S761S NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 761 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ATGGCTCATCCCAGCAGCCAG 0.582000 7 150 0 0 0.001984 0 0 PCDH18 54510 broad.mit.edu 37 4 138453224 138453224 + Missense_Mutation SNP T T G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:138453224T>G ENST00000344876.4 - 1 405 c.19A>C c.(19-21)Aaa>Caa p.K7Q PCDH18_ENST00000412923.2_Missense_Mutation_p.K7Q|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 7 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) AAGTGCATTTTAGCATTCATT 0.388000 4 76 0 0 0.001984 0 0 FAM47C 442444 broad.mit.edu 37 X 37027685 37027685 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:37027685C>T ENST00000358047.3 + 1 1254 c.1202C>T c.(1201-1203)cCt>cTt p.P401L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 401 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGTGTCTCCTCTCTTCCCG 0.617000 4 32 0 0 0.001168 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995415 57995415 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:57995415G>A ENST00000316770.2 - 1 975 c.933C>T c.(931-933)atC>atT p.I311I NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CTGCTTTACGGATAATGGCAC 0.493000 6 201 0 0 0.003080 0 0 APOB 338 broad.mit.edu 37 2 21229891 21229891 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:21229891G>A ENST00000233242.1 - 26 9976 c.9849C>T c.(9847-9849)ttC>ttT p.F3283F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3283 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) CTAGGATGGAGAAACTAGGCA 0.463000 18 538 0 0 0.007413 0 0 STAU1 6780 broad.mit.edu 37 20 47741135 47741135 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:47741135G>A ENST00000371828.3 - 7 861 c.374C>T c.(373-375)cCt>cTt p.P125L STAU1_ENST00000340954.7_Intron|STAU1_ENST00000371856.2_Intron|STAU1_ENST00000371792.1_Intron|STAU1_ENST00000360426.4_Intron|STAU1_ENST00000371802.1_Missense_Mutation_p.P125L|STAU1_ENST00000347458.5_Intron NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 203 DRBM 1. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CTGTTTCAGAGGGAAAGACTG 0.537000 5 74 0 0 0.001984 0 0 PCDH20 64881 broad.mit.edu 37 13 61987027 61987027 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:61987027C>T ENST00000409186.1 - 5 3310 c.1205G>A c.(1204-1206)gGa>gAa p.G402E PCDH20_ENST00000409204.4_Missense_Mutation_p.G402E Q8N6Y1 PCD20_HUMAN protocadherin 20 375 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GCAGCCTGGTCCATTAGCAAG 0.423000 6 97 0 0 0.001984 0 0 GRID2 2895 broad.mit.edu 37 4 94693356 94693356 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:94693356C>T ENST00000282020.4 + 16 2989 c.2731C>T c.(2731-2733)Cca>Tca p.P911S GRID2_ENST00000510992.1_Missense_Mutation_p.P816S NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 911 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.P911S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGACACTTTGCCAACACGACA 0.463000 5 109 0 0 0.000602 0 0 SLC4A2 6522 broad.mit.edu 37 7 150764057 150764057 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150764057C>T ENST00000485713.1 + 7 1983 c.943C>T c.(943-945)Cgg>Tgg p.R315W SLC4A2_ENST00000461735.1_Missense_Mutation_p.R301W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R306W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R315W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R233W NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 315 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCCCGACCCCGGGCCCCCCA 0.637000 4 81 0 0 0.000602 0 0 UBIAD1 29914 broad.mit.edu 37 1 11346014 11346014 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:11346014C>T ENST00000376810.5 + 2 1169 c.843C>T c.(841-843)atC>atT p.I281I UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 281 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) ACTGCACCATCAGCCTGGCAC 0.572000 7 140 0 0 0.003080 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087225 39087225 + Missense_Mutation SNP C C T rs143219969 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:39087225C>T ENST00000400482.3 - 3 824 c.235G>A c.(235-237)Gat>Aat p.D79N KCNJ6_ENST00000288309.6_Missense_Mutation_p.D79N NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 79 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.D79N(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GTGAAGATATCGGTCAGGTAG 0.463000 6 106 0 0 0.003080 0 0 A4GALT 53947 broad.mit.edu 37 22 43089624 43089624 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:43089624C>T ENST00000401850.1 - 2 823 c.334G>A c.(334-336)Gtc>Atc p.V112I A4GALT_ENST00000249005.2_Missense_Mutation_p.V112I|A4GALT_ENST00000381278.3_Missense_Mutation_p.V112I Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 112 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 TTCATCAGGACCAGCACGTGG 0.607000 8 141 0 0 0.008291 0 0 VN1R2 317701 broad.mit.edu 37 19 53762788 53762788 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:53762788G>A ENST00000341702.3 + 1 1244 c.1160G>A c.(1159-1161)cGa>cAa p.R387Q VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 387 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) AGAAATAGACGATTCTTTCAT 0.438000 7 107 0 0 0.001984 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 4 42 0 0 0.009096 0 0 THADA 63892 broad.mit.edu 37 2 43520263 43520263 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:43520263G>A ENST00000405006.4 - 32 4879 c.4528C>T c.(4528-4530)Cca>Tca p.P1510S THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.P1191S|THADA_ENST00000405975.2_Missense_Mutation_p.P1510S NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1510 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GGCAGGCCTGGCACCTTGAAG 0.572000 16 525 0 0 0.007413 0 0 THSD7B 80731 broad.mit.edu 37 2 137814587 137814587 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:137814587G>A ENST00000409968.1 + 3 915 c.737G>A c.(736-738)gGa>gAa p.G246E THSD7B_ENST00000272643.3_Missense_Mutation_p.G246E|THSD7B_ENST00000543459.1_Missense_Mutation_p.G105E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G215E thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTAAGGTTGGACCATGGAGT 0.428000 6 159 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9087697 9087697 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9087697G>A ENST00000397910.4 - 1 4321 c.4118C>T c.(4117-4119)tCa>tTa p.S1373L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1373 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGATTGGGTGAACTTGAGAT 0.468000 6 102 0 0 0.001984 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525801 176525801 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:176525801C>T ENST00000367662.3 + 2 1507 c.343C>T c.(343-345)Cca>Tca p.P115S PAPPA2_ENST00000367661.3_Missense_Mutation_p.P115S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 115 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GACTGAAAATCCAGCAGGACT 0.547000 6 183 0 0 0.001168 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265234 42265234 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:42265234G>A ENST00000199764.6 + 3 720 c.502G>A c.(502-504)Gaa>Aaa p.E168K AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 168 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CTTCACCTGTGAACCTGAGGT 0.567000 12 183 0 0 0.013537 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058786 152058786 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152058786C>T ENST00000368806.1 - 3 1436 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 458 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) CCTTCAAGTTCAGGGTGAGTC 0.443000 6 223 0 0 0.001168 0 0 RPTN 126638 broad.mit.edu 37 1 152127905 152127905 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152127905G>A ENST00000316073.3 - 3 1734 c.1670C>T c.(1669-1671)tCc>tTc p.S557F NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 557 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACCGTAGTGGGAACTCTGGCC 0.517000 18 561 0 0 0.007413 0 0 CRB2 286204 broad.mit.edu 37 9 126132728 126132728 + Missense_Mutation SNP C C T rs138891622 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:126132728C>T ENST00000373631.3 + 7 1397 c.1396C>T c.(1396-1398)Cgc>Tgc p.R466C CRB2_ENST00000373629.2_Missense_Mutation_p.R134C|CRB2_ENST00000359999.3_Missense_Mutation_p.R466C NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 466 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 ACTGAGGTTTCGCACCACACT 0.607000 4 27 0 0 0.009096 0 0 DNAH3 55567 broad.mit.edu 37 16 21073838 21073838 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:21073838G>A ENST00000261383.3 - 25 3684 c.3685C>T c.(3685-3687)Cca>Tca p.P1229S DNAH3_ENST00000415178.1_Missense_Mutation_p.P1229S NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1229 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTATGAATGGAACAGTTTCT 0.423000 5 88 0 0 0.001168 0 0 DGKG 1608 broad.mit.edu 37 3 186006599 186006599 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:186006599G>A ENST00000265022.3 - 6 983 c.444C>T c.(442-444)gtC>gtT p.V148V DGKG_ENST00000382164.4_Silent_p.V148V|DGKG_ENST00000544847.1_Silent_p.V148V|DGKG_ENST00000344484.4_Silent_p.V148V NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 148 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) AAGACCGAGGGACGGGGGGTT 0.552000 16 308 0 0 0.006122 0 0 IMPDH1 3614 broad.mit.edu 37 7 128038621 128038621 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:128038621G>A ENST00000338791.6 - 10 1271 c.921C>T c.(919-921)atC>atT p.I307I IMPDH1_ENST00000354269.5_Silent_p.I297I|IMPDH1_ENST00000348127.6_Silent_p.I271I|IMPDH1_ENST00000343214.4_Silent_p.I197I|IMPDH1_ENST00000496200.1_Silent_p.I197I|IMPDH1_ENST00000470772.1_Silent_p.I221I|IMPDH1_ENST00000480861.1_Silent_p.I217I|IMPDH1_ENST00000419067.2_Silent_p.I274I|IMPDH1_ENST00000378717.4_Silent_p.I238I NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 222 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CGGTGCGGGCGATGATGGCCA 0.582000 OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 127 0 0 0.003080 0 0 ATG7 10533 broad.mit.edu 37 3 11406184 11406184 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:11406184C>T ENST00000354449.3 + 16 1876 c.1851C>T c.(1849-1851)acC>acT p.T617T ATG7_ENST00000354956.5_Silent_p.T617T|ATG7_ENST00000446450.2_Silent_p.T578T NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 617 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 AGCCTCCAACCTCTCTTGGGC 0.488000 7 123 0 0 0.001984 0 0 KCNH1 3756 broad.mit.edu 37 1 210856890 210856890 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:210856890C>T ENST00000367007.4 - 11 2791 c.2622G>A c.(2620-2622)caG>caA p.Q874Q KCNH1_ENST00000271751.4_Silent_p.Q901Q NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 901 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GACTCCGATCCTGGGGACTCC 0.612000 5 39 0 0 0.000602 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572225 90572225 + RNA SNP T T A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:90572225T>A ENST00000551025.1 + 0 2234 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CGAAAAGACTTAAGTACTGGC 0.423000 6 193 0 0 0.001168 0 0 SLC38A4 55089 broad.mit.edu 37 12 47173410 47173410 + Missense_Mutation SNP A A T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:47173410A>T ENST00000447411.1 - 9 907 c.701T>A c.(700-702)gTg>gAg p.V234E SLC38A4_ENST00000266579.4_Missense_Mutation_p.V234E NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 234 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) AACAAAAAACACCATGCAGGT 0.378000 6 87 0 0 0.001168 0 0 OR9A4 130075 broad.mit.edu 37 7 141619422 141619422 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141619422G>A ENST00000548136.1 + 1 806 c.747G>A c.(745-747)gtG>gtA p.V249V MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCTGTGTTGTGATTGGCTACG 0.502000 8 66 0 0 0.003080 0 0 EPHB1 2047 broad.mit.edu 37 3 134873008 134873008 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:134873008C>T ENST00000398015.3 + 6 1682 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 438 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTCCACCGTTCCCATCATGCA 0.532000 6 212 0 0 0.001984 0 0 LRFN5 145581 broad.mit.edu 37 14 42356630 42356630 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:42356630C>T ENST00000554171.1 + 5 3234 c.802C>T c.(802-804)Ctt>Ttt p.L268F LRFN5_ENST00000554120.1_Missense_Mutation_p.L268F|LRFN5_ENST00000298119.4_Missense_Mutation_p.L268F Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 268 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCTCCTCCACTTTTAACTGG 0.453000 HNSCC(30;0.082) 6 129 0 0 0.001984 0 0 MC5R 4161 broad.mit.edu 37 18 13826253 13826253 + Silent SNP C C T rs141625505 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:13826253C>T ENST00000324750.3 + 1 711 c.489C>T c.(487-489)atC>atT p.I163I NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 163 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GGGCCATCATCGCCGGCATCT 0.567000 10 257 0 0 0.008291 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719940 140719940 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:140719940G>A ENST00000394576.2 + 1 1402 c.1402G>A c.(1402-1404)Gga>Aga p.G468R PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCCCAGAGGAGCCTCTGT 0.557000 5 83 0 0 0.000602 0 0 DSE 29940 broad.mit.edu 37 6 116752271 116752271 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:116752271C>T ENST00000331677.3 + 5 1269 c.825C>T c.(823-825)ctC>ctT p.L275L DSE_ENST00000452085.3_Silent_p.L275L|DSE_ENST00000359564.2_Silent_p.L275L|DSE_ENST00000537543.1_Silent_p.L294L Q9UL01 DSE_HUMAN dermatan sulfate epimerase 275 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) ACATGTTTCTCGTCCAGAGGC 0.478000 4 76 0 0 0.009096 0 0 OR10R2 343406 broad.mit.edu 37 1 158449784 158449784 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:158449784C>T ENST00000368152.1 + 1 117 c.117C>T c.(115-117)agC>agT p.S39S RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GTTTTTCCAGCCTTGGTGAAA 0.418000 7 97 0 0 0.001984 0 0 RBM41 55285 broad.mit.edu 37 X 106331885 106331885 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:106331885G>A ENST00000372487.1 - 5 734 c.708C>T c.(706-708)ctC>ctT p.L236L RBM41_ENST00000203616.8_Intron|RBM41_ENST00000372479.3_Silent_p.L236L NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 236 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 CCTTGTCCTGGAGTAATGATG 0.493000 3 21 0 0 0.004672 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725269 140725269 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:140725269G>A ENST00000253812.6 + 1 1669 c.1669G>A c.(1669-1671)Gac>Aac p.D557N PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCAGAACGACAACGCGCC 0.622000 8 175 0 0 0.004482 0 0 RGS6 9628 broad.mit.edu 37 14 72976951 72976951 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:72976951G>A ENST00000553530.1 + 14 1262 c.1055G>A c.(1054-1056)cGa>cAa p.R352Q RGS6_ENST00000553525.1_Missense_Mutation_p.R352Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R352Q|RGS6_ENST00000404301.2_Missense_Mutation_p.R352Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R213Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R283Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R352Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R315Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R352Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R352Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R352Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R352Q NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 352 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGTTTCTACGATTCCTGGAG 0.473000 9 161 0 0 0.006214 0 0 FCRL3 115352 broad.mit.edu 37 1 157665245 157665245 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:157665245C>T ENST00000368184.3 - 8 1576 c.1285G>A c.(1285-1287)Gcc>Acc p.A429T RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.A429T|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 429 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) CCAGAGGGGGCTGAGCTGTTC 0.582000 6 146 0 0 0.001168 0 0 OR6A2 8590 broad.mit.edu 37 11 6816292 6816292 + Silent SNP G G A rs77689755 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:6816292G>A ENST00000332601.3 - 1 836 c.648C>T c.(646-648)ctC>ctT p.L216L NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGTGACAGAGAGTGGCCCTA 0.502000 5 109 0 0 0.000602 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185107 127185107 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:127185107G>A ENST00000371124.3 - 1 1275 c.1079C>T c.(1078-1080)tCg>tTg p.S360L NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 360 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GAAGTCTGCCGAGGTGACCCA 0.463000 10 93 0 0 0.010729 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030295 95030295 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:95030295C>T ENST00000557004.1 + 2 897 c.476C>T c.(475-477)aCc>aTc p.T159I SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.T159I|SERPINA4_ENST00000298841.5_Missense_Mutation_p.T159I P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 159 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CTGAATGACACCATGGCCGTC 0.532000 5 92 0 0 0.001984 0 0 C7orf62 219557 broad.mit.edu 37 7 88424246 88424246 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:88424246G>A ENST00000297203.2 - 2 196 c.11C>T c.(10-12)tCg>tTg p.S4L ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 4 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 GTTATGGACCGAAAAGGACAT 0.418000 6 99 0 0 0.001168 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716271 153716271 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:153716271C>T ENST00000263512.4 - 2 1507 c.1009G>A c.(1009-1011)Ggc>Agc p.G337S SLC10A3_ENST00000369649.4_Missense_Mutation_p.G308S|SLC10A3_ENST00000393587.4_Missense_Mutation_p.G337S|SLC10A3_ENST00000393586.1_Missense_Mutation_p.G392S NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 337 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATCAGCACGCCCACGGCTATG 0.617000 4 50 0 0 0.000602 0 0 RGS7 6000 broad.mit.edu 37 1 240975259 240975259 + Silent SNP G G A rs114051974 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:240975259G>A ENST00000366565.1 - 14 1422 c.1041C>T c.(1039-1041)ttC>ttT p.F347F RGS7_ENST00000348120.2_Silent_p.F294F|RGS7_ENST00000366564.1_Silent_p.F347F|RGS7_ENST00000446183.2_Silent_p.F263F|RGS7_ENST00000331110.7_Silent_p.F321F|RGS7_ENST00000407727.1_Silent_p.F347F|RGS7_ENST00000366562.4_Silent_p.F347F|RGS7_ENST00000401882.1_Silent_p.F294F|RGS7_ENST00000366563.1_Silent_p.F347F NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 347 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GAAATTTAAGGAACTGTTCTC 0.418000 4 56 0 0 0.009096 0 0 PKHD1 5314 broad.mit.edu 37 6 51882277 51882277 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:51882277G>A ENST00000371117.3 - 34 5806 c.5531C>T c.(5530-5532)tCc>tTc p.S1844F PKHD1_ENST00000340994.4_Missense_Mutation_p.S1844F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1844 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGGCATTGGGAACTTTCCTC 0.493000 5 92 0 0 0.000602 0 0 SEL1L2 80343 broad.mit.edu 37 20 13830965 13830965 + Splice_Site SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:13830965C>T ENST00000284951.5 - 19 1893 c.1818_splice c.e19-1 p.D607_splice SEL1L2_ENST00000378072.5_Splice_Site_p.D494_splice|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 607 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AAGTGAATGTCCTAGAAGGAG 0.438000 4 69 0 0 0.009096 0 0 PROKR2 128674 broad.mit.edu 37 20 5282926 5282926 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:5282926G>A ENST00000546004.1 - 3 1161 c.915C>T c.(913-915)ttC>ttT p.F305F PROKR2_ENST00000217270.3_Silent_p.F305F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 305 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TTTCCTTCACGAACACAGTGG 0.537000 HNSCC(71;0.22) 5 58 0 0 0.000602 0 0 ZNF490 57474 broad.mit.edu 37 19 12691589 12691589 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:12691589G>A ENST00000311437.6 - 5 1422 c.1300C>T c.(1300-1302)Cga>Tga p.R434* CTD-2192J16.20_ENST00000593682.1_Silent_p.F67F NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 TCATGGATTCGAAAGTGAGTG 0.413000 4 87 0 0 0.000602 0 0 BRINP2 57795 broad.mit.edu 37 1 177247706 177247706 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:177247706C>T ENST00000361539.4 + 7 1332 c.1020C>T c.(1018-1020)ttC>ttT p.F340F FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 340 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAGAAGAGTTCCAGGCCCTGC 0.587000 7 203 0 0 0.004482 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159306 118159306 + Missense_Mutation SNP A A T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:118159306A>T ENST00000427715.2 + 5 472 c.38A>T c.(37-39)aAg>aTg p.K13M SLC30A8_ENST00000456015.2_Missense_Mutation_p.K62M|SLC30A8_ENST00000519688.1_Missense_Mutation_p.K13M|SLC30A8_ENST00000521243.1_Missense_Mutation_p.K13M NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 62 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCCACAGAAAAGGGGGCGAAT 0.512000 20 449 0 0 0.008871 0 0 SYNE1 23345 broad.mit.edu 37 6 152949425 152949425 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:152949425G>A ENST00000367255.5 - 3 643 c.42C>T c.(40-42)atC>atT p.I14I SYNE1_ENST00000367253.4_Silent_p.I14I|SYNE1_ENST00000341594.5_Silent_p.I14I|SYNE1_ENST00000413186.2_Silent_p.I14I|SYNE1_ENST00000423061.1_Silent_p.I14I|SYNE1_ENST00000466159.2_Silent_p.I14I|SYNE1_ENST00000367248.3_Silent_p.I14I|SYNE1_ENST00000448038.1_Silent_p.I14I|SYNE1_ENST00000265368.4_Silent_p.I14I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 14 Actin-binding. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCACATTGGCGATATCCCGAG 0.502000 HNSCC(10;0.0054) 8 131 0 0 0.006214 0 0 GRK7 131890 broad.mit.edu 37 3 141535611 141535611 + Missense_Mutation SNP C C T rs36004830 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:141535611C>T ENST00000264952.2 + 4 1518 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 461 AGC-kinase C-terminal. R -> C (in dbSNP:rs36004830). visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CAACTTTCCTCGCCTGGAAGC 0.443000 6 107 0 0 0.001168 0 0 SYT11 23208 broad.mit.edu 37 1 155851155 155851155 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:155851155C>T ENST00000368324.4 + 4 1405 c.1152C>T c.(1150-1152)ttC>ttT p.F384F SYT11_ENST00000539162.1_Silent_p.F77F NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 384 C2 2. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TTATCGACTTCGATCGCACCA 0.537000 16 270 0 0 0.003163 0 0 TAF1L 138474 broad.mit.edu 37 9 32632226 32632226 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:32632226C>T ENST00000242310.4 - 1 3441 c.3352G>A c.(3352-3354)Gaa>Aaa p.E1118K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1118 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTTCCCATTTCTTCAAAGTCA 0.453000 4 75 0 0 0.009096 0 0 CMYA5 202333 broad.mit.edu 37 5 79031211 79031211 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:79031211C>T ENST00000446378.2 + 2 6654 c.6623C>T c.(6622-6624)cCa>cTa p.P2208L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2208 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGCCAAGTCCATCCGTAGAA 0.398000 5 141 0 0 0.000602 0 0 THSD4 79875 broad.mit.edu 37 15 72021016 72021016 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:72021016G>A ENST00000355327.3 + 9 1620 c.1486G>A c.(1486-1488)Gag>Aag p.E496K THSD4_ENST00000261862.6_Missense_Mutation_p.E496K|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.E136K Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 496 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CACTGCCGGAGAGTCCTTTTT 0.483000 8 171 0 0 0.004482 0 0 ZNF287 57336 broad.mit.edu 37 17 16470880 16470880 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:16470880G>A ENST00000395824.1 - 2 783 c.166C>T c.(166-168)Cca>Tca p.P56S ZNF287_ENST00000395825.3_Missense_Mutation_p.P56S Q9HBT7 ZN287_HUMAN zinc finger protein 287 49 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCTGGGTATGGAAAATTCCTA 0.458000 5 72 0 0 0.001168 0 0 ANK3 288 broad.mit.edu 37 10 61815462 61815462 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:61815462C>T ENST00000280772.1 - 42 13210 c.13019G>A c.(13018-13020)aGg>aAg p.R4340K ANK3_ENST00000373827.2_Missense_Mutation_p.R1824K|ANK3_ENST00000355288.2_Missense_Mutation_p.R964K|ANK3_ENST00000503366.1_Missense_Mutation_p.R1831K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4340 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 GAGGCTAAGCCTTGGCTTGCC 0.468000 10 221 0 0 0.010729 0 0 TBX20 57057 broad.mit.edu 37 7 35242110 35242110 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:35242110G>A ENST00000408931.3 - 8 1802 c.1276C>T c.(1276-1278)Cag>Tag p.Q426* NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 426 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GGCCCCTGCTGAAAATAGTGA 0.517000 3 5 0 0 0.004672 0 0 PRKAA2 5563 broad.mit.edu 37 1 57173265 57173265 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:57173265C>T ENST00000371244.4 + 9 1604 c.1538C>T c.(1537-1539)tCt>tTt p.S513F NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 513 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CATTCACTTTCTGGCTCTCTC 0.488000 7 121 0 0 0.004482 0 0 ANKS1A 23294 broad.mit.edu 37 6 35048853 35048853 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:35048853C>T ENST00000360359.3 + 17 2765 c.2627C>T c.(2626-2628)cCt>cTt p.P876L ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 876 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGCTGCTGCCTCCAGGGGAC 0.627000 7 47 0 0 0.004482 0 0 ACACA 31 broad.mit.edu 37 17 35601576 35601576 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:35601576G>A ENST00000353139.5 - 21 3151 c.2670C>T c.(2668-2670)ttC>ttT p.F890F ACACA_ENST00000335166.5_Silent_p.F775F|ACACA_ENST00000360679.3_Silent_p.F795F|ACACA_ENST00000394406.2_Silent_p.F853F NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 853 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGACATAATGGAACACTCGAT 0.488000 6 78 0 0 0.001168 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39382370 39382370 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:39382370C>T ENST00000402182.3 + 4 577 c.522C>T c.(520-522)ttC>ttT p.F174F APOBEC3B_ENST00000333467.3_Silent_p.F174F|APOBEC3B_ENST00000407298.3_Silent_p.F174F Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 174 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GGTACAAATTCGATGAAAATT 0.478000 6 129 0 0 0.001984 0 0 DGCR8 54487 broad.mit.edu 37 22 20074158 20074158 + Silent SNP C C T rs139146240 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:20074158C>T ENST00000351989.3 + 2 1101 c.672C>T c.(670-672)atC>atT p.I224I DGCR8_ENST00000407755.1_Silent_p.I224I|DGCR8_ENST00000383024.2_Silent_p.I224I NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 224 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CTAAAGCAATCGTTCAGAGAG 0.478000 8 129 0 0 0.003080 0 0 TNNI3K 51086 broad.mit.edu 37 1 74901813 74901813 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:74901813G>A ENST00000370891.2 + 20 2141 c.2125G>A c.(2125-2127)Gga>Aga p.G709R TNNI3K_ENST00000326637.3_Missense_Mutation_p.G608R|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.G709R|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.G709R NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 GGCAGATTTTGGAGGTGAGAT 0.373000 7 91 0 0 0.004482 0 0 ADAM28 10863 broad.mit.edu 37 8 24157538 24157538 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:24157538C>T ENST00000265769.4 + 2 208 c.98C>T c.(97-99)cCt>cTt p.P33L ADAM28_ENST00000437154.2_Missense_Mutation_p.P33L|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 33 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GTGGTTTATCCTATAAGACTT 0.368000 4 98 0 0 0.000602 0 0 ALPK1 80216 broad.mit.edu 37 4 113346825 113346825 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:113346825C>T ENST00000458497.1 + 7 819 c.540C>T c.(538-540)acC>acT p.T180T ALPK1_ENST00000177648.9_Silent_p.T180T|ALPK1_ENST00000504176.2_Silent_p.T102T NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 180 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTTTAGGTACCTGGCTGTACA 0.388000 5 112 0 0 0.001168 0 0 PPP1CC 5501 broad.mit.edu 37 12 111169596 111169596 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:111169596C>T ENST00000335007.5 - 2 356 c.166G>A c.(166-168)Gaa>Aaa p.E56K PPP1CC_ENST00000550991.1_Missense_Mutation_p.E56K|PPP1CC_ENST00000546933.1_Missense_Mutation_p.E65K|PPP1CC_ENST00000340766.5_Missense_Mutation_p.E56K|PPP1CC_ENST00000551676.1_Missense_Mutation_p.E56K NM_002710.3 NP_002701.1 P36873 PP1G_HUMAN protein phosphatase 1, catalytic subunit, gamma isozyme 56 cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity central_nervous_system(1)|large_intestine(2)|lung(3) 6 AGTGGTGCTTCAAGTTCTAGT 0.398000 4 87 0 0 0.009096 0 0 INPP4B 8821 broad.mit.edu 37 4 143235881 143235881 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:143235881G>A ENST00000513000.1 - 9 840 c.407C>T c.(406-408)cCc>cTc p.P136L INPP4B_ENST00000262992.4_Missense_Mutation_p.P136L|INPP4B_ENST00000308502.4_Missense_Mutation_p.P136L|INPP4B_ENST00000508116.1_Missense_Mutation_p.P136L|INPP4B_ENST00000509777.1_Missense_Mutation_p.P136L NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 136 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.P136L(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TTCTGGCGGGGGATCCTTATG 0.448000 6 127 0 0 0.001168 0 0 DOT1L 84444 broad.mit.edu 37 19 2180750 2180750 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:2180750C>T ENST00000398665.3 + 2 156 c.120C>T c.(118-120)acC>acT p.T40T NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 40 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) TCATCGAGACCATCCGGTGAG 0.562000 4 44 0 0 0.000602 0 0 QRICH1 54870 broad.mit.edu 37 3 49095126 49095126 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:49095126G>A ENST00000395443.2 - 3 979 c.507C>T c.(505-507)atC>atT p.I169I QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Silent_p.I169I|QRICH1_ENST00000357496.2_Silent_p.I169I NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 169 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCTGCACCTGGATCTGAGCTG 0.622000 6 111 0 0 0.001168 0 0 LPAR2 9170 broad.mit.edu 37 19 19738063 19738063 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:19738063C>T ENST00000542587.1 - 5 933 c.31G>A c.(31-33)Gag>Aag p.E11K LPAR2_ENST00000407877.3_Missense_Mutation_p.E11K|LPAR2_ENST00000586703.1_Missense_Mutation_p.E11K Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 11 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 CCGATGGTCTCGTTGTAGTAG 0.582000 7 105 0 0 0.004482 0 0 DKK2 27123 broad.mit.edu 37 4 107845819 107845819 + Missense_Mutation SNP G G A rs146683175 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:107845819G>A ENST00000285311.3 - 3 1117 c.412C>T c.(412-414)Cac>Tac p.H138Y DKK2_ENST00000513208.1_Missense_Mutation_p.H38Y|DKK2_ENST00000510463.1_Missense_Mutation_p.H92Y NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 138 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCCGGGATGTGAGGGGTTAAG 0.433000 7 88 0 0 0.004482 0 0 EEF2K 29904 broad.mit.edu 37 16 22269896 22269896 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:22269896C>T ENST00000263026.5 + 10 1585 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 371 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GAGCCGGCCACCCCTGCTCCG 0.557000 6 83 0 0 0.001168 0 0 TMEM260 54916 broad.mit.edu 37 14 57070588 57070588 + Missense_Mutation SNP C C T rs149705965 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:57070588C>T ENST00000261556.6 + 4 522 c.400C>T c.(400-402)Cgt>Tgt p.R134C TMEM260_ENST00000538838.1_Missense_Mutation_p.R134C|TMEM260_ENST00000536419.1_Intron NM_017799.3 NP_060269.3 transmembrane protein 260 TTCATTTTCTCGTCTAACATG 0.438000 5 122 0 0 0.001984 0 0 AHCY 191 broad.mit.edu 37 20 32879290 32879290 + Missense_Mutation SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:32879290A>G ENST00000538132.1 - 5 795 c.409T>C c.(409-411)Tac>Cac p.Y137H AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.Y165H NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 165 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 ATCATCTTGTAGAGGTTGTGG 0.567000 7 122 0 0 0.001984 0 0 NPY4R 5540 broad.mit.edu 37 10 47087170 47087170 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:47087170C>T ENST00000374312.1 + 3 806 c.387C>T c.(385-387)atC>atT p.I129I NPY4R_ENST00000395716.1_Silent_p.I129I NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CGGTCTCCATCCTCTCGCTCG 0.582000 5 166 0 0 0.001168 0 0 IZUMO1 284359 broad.mit.edu 37 19 49249038 49249038 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49249038G>A ENST00000332955.2 - 2 626 c.79C>T c.(79-81)Ccg>Tcg p.P27S NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 27 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ACGACAGACGGGTCACATATA 0.587000 9 105 0 0 0.006214 0 0 SYNE1 23345 broad.mit.edu 37 6 152708213 152708213 + Silent SNP A A T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:152708213A>T ENST00000367255.5 - 54 9082 c.8481T>A c.(8479-8481)gtT>gtA p.V2827V SYNE1_ENST00000341594.5_Silent_p.V2866V|SYNE1_ENST00000423061.1_Silent_p.V2834V|SYNE1_ENST00000448038.1_Silent_p.V2834V|SYNE1_ENST00000265368.4_Silent_p.V2827V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2827 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAACCTTGGCAACAGTCATTA 0.348000 HNSCC(10;0.0054) 4 62 0 0 0.009096 0 0 C6 729 broad.mit.edu 37 5 41203303 41203303 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:41203303G>A ENST00000263413.3 - 2 294 c.30C>T c.(28-30)atC>atT p.I10I C6_ENST00000337836.5_Silent_p.I10I NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 10 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CATTCAGCAGGATGAAGTACA 0.463000 5 99 0 0 0.001168 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555645 50555645 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:50555645G>A ENST00000262794.5 + 9 1402 c.1319G>A c.(1318-1320)cGa>cAa p.R440Q MOV10L1_ENST00000545383.1_Missense_Mutation_p.R440Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R420Q|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R440Q NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 440 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.R440Q(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CTAATTGGGCGATACCTTGAA 0.388000 4 59 0 0 0.000602 0 0 SYT1 6857 broad.mit.edu 37 12 79689912 79689912 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:79689912C>T ENST00000261205.4 + 7 1195 c.538C>T c.(538-540)Cct>Tct p.P180S SYT1_ENST00000457153.2_Missense_Mutation_p.P177S|SYT1_ENST00000393240.3_Missense_Mutation_p.P180S|SYT1_ENST00000552744.1_Missense_Mutation_p.P180S NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 180 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.P180S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CACATCTGATCCTTACGTGAA 0.423000 4 66 0 0 0.009096 0 0 EPHA8 2046 broad.mit.edu 37 1 22927885 22927885 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:22927885C>T ENST00000166244.3 + 16 2894 c.2822C>T c.(2821-2823)tCc>tTc p.S941F NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 941 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGGCTGGACTCCATCCGCATG 0.682000 4 87 0 0 0.009096 0 0 OSMR 9180 broad.mit.edu 37 5 38869197 38869197 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:38869197C>T ENST00000274276.3 + 2 453 c.51C>T c.(49-51)tcC>tcT p.S17S OSMR_ENST00000502536.1_Silent_p.S17S NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 17 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CATTGCTGTCCTTGAGGACTT 0.348000 5 77 0 0 0.001168 0 0 ZNF259 8882 broad.mit.edu 37 11 116649743 116649743 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:116649743C>T ENST00000227322.3 - 14 1337 c.1278G>A c.(1276-1278)atG>atA p.M426I NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 426 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) GCTCCACCTTCATCTCAGGAT 0.542000 9 419 0 0 0.008291 0 0 GALNT15 117248 broad.mit.edu 37 3 16237390 16237390 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:16237390C>T ENST00000339732.5 + 2 1166 c.663C>T c.(661-663)gcC>gcT p.A221A GALNT15_ENST00000437509.1_Silent_p.A221A NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TGCCCAGGGCCTTCCTGAAGG 0.617000 4 38 0 0 0.009096 0 0 SPAG1 6674 broad.mit.edu 37 8 101243516 101243516 + Splice_Site SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:101243516G>A ENST00000388798.2 + 15 2179 c.1988_splice c.e15+1 p.R663_splice SPAG1_ENST00000251809.3_Splice_Site_p.R663_splice NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 663 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TATACAAACAGGCAAGTTCTT 0.254000 6 78 0 0 0.001168 0 0 PRDM16 63976 broad.mit.edu 37 1 3328862 3328862 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:3328862G>A ENST00000378398.3 + 10 2186 c.2104G>A c.(2104-2106)Gag>Aag p.E702K PRDM16_ENST00000511072.1_Missense_Mutation_p.E702K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E701K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E701K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E702K|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.E701K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E701K Q9HAZ2 PRD16_HUMAN PR domain containing 16 701 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ATCCATTGCCGAGAAGTACTT 0.622000 T EVI1 """MDS, AML""" 6 81 0 0 0.001984 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241404 60241404 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:60241404G>A ENST00000269499.5 + 13 2508 c.2090G>A c.(2089-2091)gGa>gAa p.G697E ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G376E NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 697 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GCTTCACTAGGAAATGAGAAT 0.423000 11 142 0 0 0.013537 0 0 FLG 2312 broad.mit.edu 37 1 152284513 152284513 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152284513C>T ENST00000368799.1 - 3 2884 c.2849G>A c.(2848-2850)aGt>aAt p.S950N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 950 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCACTGTCACTGTCCTGGCT 0.562000 Ichthyosis 8 274 0 0 0.006214 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284485 33284485 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:33284485G>A ENST00000431845.2 - 2 360 c.209C>T c.(208-210)gCt>gTt p.A70V ZBTB22_ENST00000418724.1_Missense_Mutation_p.A70V NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 70 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGCCCGATGAGCCCGGAACTC 0.607000 7 105 0 0 0.003080 0 0 HK2 3099 broad.mit.edu 37 2 75115072 75115072 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:75115072C>T ENST00000290573.2 + 16 2862 c.2262C>T c.(2260-2262)gtC>gtT p.V754V HK2_ENST00000409174.1_Silent_p.V726V NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 754 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GTGAGATTGTCCGTAACATTC 0.473000 5 109 0 0 0.001168 0 0 PDYN 5173 broad.mit.edu 37 20 1963712 1963712 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:1963712C>T ENST00000217305.2 - 3 244 c.19G>A c.(19-21)Gtc>Atc p.V7I PDYN_ENST00000539905.1_Missense_Mutation_p.V7I|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.V7I NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 7 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCAGCCAGGACCAGCCCCTGC 0.552000 5 47 0 0 0.001168 0 0 PDE1A 5136 broad.mit.edu 37 2 183070702 183070702 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:183070702C>T ENST00000435564.1 - 8 1115 c.915G>A c.(913-915)atG>atA p.M305I PDE1A_ENST00000536095.1_Missense_Mutation_p.M201I|PDE1A_ENST00000346717.4_Missense_Mutation_p.M271I|PDE1A_ENST00000331935.6_Missense_Mutation_p.M305I|PDE1A_ENST00000456212.1_Missense_Mutation_p.M305I|PDE1A_ENST00000410103.1_Missense_Mutation_p.M305I|PDE1A_ENST00000409365.1_Missense_Mutation_p.M289I|PDE1A_ENST00000358139.2_Missense_Mutation_p.M305I|PDE1A_ENST00000351439.5_Missense_Mutation_p.M289I NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 305 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.M305I(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCAAGATATTCATTTCTTCTT 0.343000 4 23 0 0 0.009096 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:19455440C>T ENST00000396229.2 + 4 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 276 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCCTCATTTCGTCACAGGAG 0.463000 5 106 0 0 0.001168 0 0 MUC17 140453 broad.mit.edu 37 7 100682054 100682054 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100682054G>A ENST00000306151.4 + 3 7421 c.7357G>A c.(7357-7359)Gaa>Aaa p.E2453K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2453 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTCCTAGTGAAGGAACCAC 0.537000 18 364 0 0 0.006122 0 0 TRAV4 28689 broad.mit.edu 37 14 22205027 22205027 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:22205027G>A ENST00000390426.2 + 0 158 GGACTCATATGAAGGACAAGA 0.443000 7 81 0 0 0.003080 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439461 150439461 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150439461C>T ENST00000358647.3 + 3 601 c.234C>T c.(232-234)gtC>gtT p.V78V GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAGGAAAGTCCTGGTGGTTG 0.592000 5 68 0 0 0.001168 0 0 GALR3 8484 broad.mit.edu 37 22 38221146 38221146 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38221146G>A ENST00000249041.2 + 2 801 c.776G>A c.(775-777)tGg>tAg p.W259* NM_003614.1 NP_003605.1 O60755 GALR3_HUMAN galanin receptor 3 259 feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity endometrium(1)|liver(2)|lung(1) 4 Melanoma(58;0.045) CTGTGCTTCTGGTACGGCCGC 0.736000 4 20 0 0 0.009096 0 0 GH1 2688 broad.mit.edu 37 17 61995475 61995475 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:61995475C>T ENST00000323322.5 - 3 235 c.193G>A c.(193-195)Gaa>Aaa p.E65K GH1_ENST00000458650.2_Intron|GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Intron NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 65 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 TACTTCTGTTCCTTTGGGATA 0.512000 7 173 0 0 0.003080 0 0 CHMP4B 128866 broad.mit.edu 37 20 32439967 32439967 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:32439967C>T ENST00000217402.2 + 4 733 c.568C>T c.(568-570)Cct>Tct p.P190S NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 190 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 CGAAACAGTCCCTCTACCAAA 0.473000 4 143 0 0 0.000602 0 0 MEGF11 84465 broad.mit.edu 37 15 66262970 66262970 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:66262970C>T ENST00000409699.2 - 8 992 c.820G>A c.(820-822)Gat>Aat p.D274N MEGF11_ENST00000360698.4_Missense_Mutation_p.D274N|MEGF11_ENST00000288745.3_Missense_Mutation_p.D199N|MEGF11_ENST00000395625.2_Missense_Mutation_p.D199N|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.D274N A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 274 EGF-like 5. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CAAGGACAATCCTGGCTGCAG 0.552000 3 31 0 0 0.004672 0 0 DNAH5 1767 broad.mit.edu 37 5 13928224 13928224 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:13928224C>T ENST00000265104.4 - 3 360 c.256G>A c.(256-258)Gat>Aat p.D86N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 86 Stem (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) TCCTCCACATCTTGATAGTAA 0.363000 Kartagener syndrome 4 51 0 0 0.000602 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716270 153716270 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:153716270C>T ENST00000263512.4 - 2 1508 c.1010G>A c.(1009-1011)gGc>gAc p.G337D SLC10A3_ENST00000369649.4_Missense_Mutation_p.G308D|SLC10A3_ENST00000393587.4_Missense_Mutation_p.G337D|SLC10A3_ENST00000393586.1_Missense_Mutation_p.G392D NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 337 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATCAGCACGCCCACGGCTAT 0.617000 4 48 0 0 0.000602 0 0 USH1C 10083 broad.mit.edu 37 11 17531348 17531348 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:17531348G>A ENST00000005226.7 - 18 1567 c.1568C>T c.(1567-1569)tCt>tTt p.S523F USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 PDZ 3. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GGCCAGGGGAGACACAGAAGG 0.582000 5 77 0 0 0.001168 0 0 LRP2 4036 broad.mit.edu 37 2 170063502 170063502 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:170063502C>T ENST00000263816.3 - 39 7013 c.6728G>A c.(6727-6729)cGa>cAa p.R2243Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2243 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R2243Q(1) 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) GCCATCACTTCGGTCCACTGC 0.463000 5 138 0 0 0.001168 0 0 LPHN2 23266 broad.mit.edu 37 1 82447545 82447545 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:82447545C>T ENST00000370728.1 + 21 3800 c.3155C>T c.(3154-3156)tCc>tTc p.S1052F LPHN2_ENST00000319517.6_Missense_Mutation_p.S1039F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S1052F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.S1052F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S1039F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S977F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S1054F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S1054F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S1067F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S1039F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S1067F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S1039F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S1067F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S1067F O95490 LPHN2_HUMAN latrophilin 2 1052 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.S1039F(1)|p.S1067F(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTCACCTGGTCCTTTGGGTTG 0.393000 10 189 0 0 0.006214 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094833 139094833 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:139094833G>A ENST00000332797.6 + 1 177 c.22G>A c.(22-24)Gcg>Acg p.A8T NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 8 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GGAGCCAAGAGCGACACTGGG 0.597000 5 128 0 0 0.001168 0 0 KIAA0195 9772 broad.mit.edu 37 17 73491074 73491074 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:73491074G>A ENST00000314256.7 + 20 3081 c.2687G>A c.(2686-2688)aGc>aAc p.S896N KIAA0195_ENST00000579208.1_Missense_Mutation_p.S547N|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S906N NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 896 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCCCCTCCAGCCCCAGCCAC 0.622000 8 101 0 0 0.003080 0 0 GPR34 2857 broad.mit.edu 37 X 41555476 41555476 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:41555476G>A ENST00000378142.4 + 3 874 c.590G>A c.(589-591)gGa>gAa p.G197E CASK_ENST00000378166.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.G197E|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 197 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 CTTAAGAAAGGAGGGCATAAT 0.343000 3 19 0 0 0.004672 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684589 108684589 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:108684589C>T ENST00000218006.2 - 7 1983 c.1692G>A c.(1690-1692)gcG>gcA p.A564A NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 564 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.A564A(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CCTCATAAATCGCTATGTTGG 0.403000 6 90 0 0 0.001168 0 0 RASSF2 9770 broad.mit.edu 37 20 4776507 4776507 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:4776507G>A ENST00000379400.3 - 5 436 c.241C>T c.(241-243)Cca>Tca p.P81S RASSF2_ENST00000379376.2_Missense_Mutation_p.P81S NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 81 cell cycle|signal transduction nucleus protein binding p.P81A(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GAGGAGGATGGAGGGGGTCGA 0.612000 4 91 0 0 0.000602 0 0 ZNF488 118738 broad.mit.edu 37 10 48371419 48371419 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:48371419C>T ENST00000395702.2 + 2 1114 c.887C>T c.(886-888)tCc>tTc p.S296F ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.S189F Q96MN9 ZN488_HUMAN zinc finger protein 488 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CACATGCGATCCCACCACAAA 0.607000 4 86 0 0 0.009096 0 0 ARID5B 84159 broad.mit.edu 37 10 63851616 63851616 + Missense_Mutation SNP C C A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:63851616C>A ENST00000279873.7 + 10 2804 c.2394C>A c.(2392-2394)gaC>gaA p.D798E ARID5B_ENST00000309334.5_Missense_Mutation_p.D555E NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 798 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CCCTTGCTGACTCCTACGTCC 0.498000 6 133 2.0095e-06 2.22138e-06 0.001984 1 0 OR10K1 391109 broad.mit.edu 37 1 158435856 158435856 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:158435856C>T ENST00000289451.2 + 1 585 c.505C>T c.(505-507)Cac>Tac p.H169Y NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TCTGCCCTTCCACTCCTCCAA 0.537000 6 205 0 0 0.004482 0 0 OR10H4 126541 broad.mit.edu 37 19 16059904 16059904 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:16059904C>T ENST00000322107.1 + 1 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CCATCTTGTTCCTGCTGTACC 0.483000 9 187 0 0 0.004482 0 0 POP1 10940 broad.mit.edu 37 8 99146184 99146184 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:99146184C>T ENST00000401707.2 + 6 824 c.743C>T c.(742-744)tCc>tTc p.S248F POP1_ENST00000349693.3_Missense_Mutation_p.S248F NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 248 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CAGGATTTATCCTATTACTGT 0.388000 6 86 0 0 0.001984 0 0 SAMD4A 23034 broad.mit.edu 37 14 55236885 55236885 + Missense_Mutation SNP C C T rs146324552 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:55236885C>T ENST00000251091.5 + 7 1701 c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W SAMD4A_ENST00000392067.3_Missense_Mutation_p.R554W|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R553W|SAMD4A_ENST00000555192.1_Missense_Mutation_p.R145W|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R554W NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 554 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity p.R553W(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 GAAGCTCTTTCGGTCTTTCCC 0.423000 6 91 0 0 0.001168 0 0 CNBD2 140894 broad.mit.edu 37 20 34563906 34563906 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:34563906G>A ENST00000373973.3 + 3 398 c.225G>A c.(223-225)atG>atA p.M75I CNBD2_ENST00000538900.1_Missense_Mutation_p.M75I|CNBD2_ENST00000349339.1_Missense_Mutation_p.M75I cyclic nucleotide binding domain containing 2 TTGATACCATGGACTTCATTG 0.483000 6 85 0 0 0.001984 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922021 78922021 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:78922021C>T ENST00000261751.3 - 5 737 c.626G>A c.(625-627)aGa>aAa p.R209K CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 209 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CACTGTCCTTCTCCCTGGGAG 0.542000 5 117 0 0 0.001168 0 0 LAMA2 3908 broad.mit.edu 37 6 129636797 129636797 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:129636797G>A ENST00000421865.2 + 25 3781 c.3732G>A c.(3730-3732)aaG>aaA p.K1244K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1244 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) TTGAAGGAAAGAAGGTAAGCA 0.343000 4 54 0 0 0.009096 0 0 KLHL14 57565 broad.mit.edu 37 18 30322008 30322008 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:30322008G>A ENST00000359358.4 - 3 1390 c.952C>T c.(952-954)Cgc>Tgc p.R318C KLHL14_ENST00000358095.4_Missense_Mutation_p.R318C NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 318 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TTGTTAGAGCGAATTCTTCAC 0.428000 4 75 0 0 0.000602 0 0 RIMBP2 23504 broad.mit.edu 37 12 130883694 130883694 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:130883694G>A ENST00000261655.4 - 19 3308 c.3145C>T c.(3145-3147)Cat>Tat p.H1049Y NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 1049 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGTGTGAAATGAACACTCTTC 0.333000 5 107 0 0 0.001168 0 0 ERC2 26059 broad.mit.edu 37 3 56468411 56468411 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:56468411C>T ENST00000288221.6 - 2 880 c.625G>A c.(625-627)Gag>Aag p.E209K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 209 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CTCATCTGCTCCTTGAGGACA 0.458000 4 78 0 0 0.009096 0 0 CYTIP 9595 broad.mit.edu 37 2 158272435 158272435 + Silent SNP C C T rs141179083 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:158272435C>T ENST00000264192.3 - 8 955 c.834G>A c.(832-834)acG>acA p.T278T CYTIP_ENST00000540637.1_Silent_p.T172T NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 278 Ser-rich. T -> Q (in Ref. 5; AAA16575). regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CATCTGTACTCGTCTGCCGAC 0.542000 6 72 0 0 0.001984 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327203 150327203 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150327203G>A ENST00000328902.5 - 2 244 c.28C>T c.(28-30)Ccc>Tcc p.P10S GIMAP6_ENST00000493969.1_Missense_Mutation_p.P10S NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 10 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTCCTGGGGAATTTGTTCA 0.428000 7 102 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9068069 9068069 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9068069G>A ENST00000397910.4 - 3 19580 c.19377C>T c.(19375-19377)acC>acT p.T6459T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6461 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCCAGGTAAGGGTACCCTGTG 0.483000 15 194 0 0 0.004990 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917102 32917102 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:32917102C>T ENST00000374843.4 - 4 812 c.727G>A c.(727-729)Ggc>Agc p.G243S HLA-DMA_ENST00000395305.3_Missense_Mutation_p.G148S|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.G209S|XXbac-BPG181M17.5_ENST00000429234.1_Intron NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 243 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 ACGATGATGCCCAGCACACCC 0.587000 4 44 0 0 0.009096 0 0 GRM2 2912 broad.mit.edu 37 3 51747031 51747031 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:51747031C>T ENST00000395052.3 + 3 1227 c.993C>T c.(991-993)ttC>ttT p.F331F GRM2_ENST00000442933.2_Silent_p.F331F|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 331 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCTCCTACTTCCAGAGCCTGG 0.632000 4 43 0 0 0.009096 0 0 OR2T10 127069 broad.mit.edu 37 1 248756631 248756631 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:248756631C>T ENST00000330500.2 - 1 469 c.439G>A c.(439-441)Ggc>Agc p.G147S NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACCAGCAGCCTGATGCCAGG 0.547000 4 94 0 0 0.009096 0 0 EIF6 3692 broad.mit.edu 37 20 33872077 33872077 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:33872077G>A ENST00000374443.3 - 2 263 c.214C>T c.(214-216)Cat>Tat p.H72Y EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Intron|EIF6_ENST00000374450.3_Intron NM_181466.2 NP_852131.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 71 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTAGGGACATGGACTCGGTGG 0.697000 5 104 0 0 0.000602 0 0 OR51F2 119694 broad.mit.edu 37 11 4843090 4843090 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:4843090G>A ENST00000322110.5 + 1 540 c.475G>A c.(475-477)Ggg>Agg p.G159R MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCAAGATTGGGATGAGCAT 0.463000 11 177 0 0 0.013537 0 0 DSE 29940 broad.mit.edu 37 6 116747888 116747888 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:116747888G>A ENST00000331677.3 + 4 1012 c.568G>A c.(568-570)Gaa>Aaa p.E190K DSE_ENST00000452085.3_Missense_Mutation_p.E190K|DSE_ENST00000359564.2_Missense_Mutation_p.E190K|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.E209K Q9UL01 DSE_HUMAN dermatan sulfate epimerase 190 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GTATATGTATGAAACTTCATA 0.448000 5 36 0 0 0.000602 0 0 RYR3 6263 broad.mit.edu 37 15 33855117 33855117 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:33855117C>T ENST00000389232.4 + 11 1122 c.1052C>T c.(1051-1053)tCt>tTt p.S351F RYR3_ENST00000415757.3_Missense_Mutation_p.S351F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 351 MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TATGGAGATTCTGTCTGCTTT 0.448000 4 74 0 0 0.009096 0 0 PYGO1 26108 broad.mit.edu 37 15 55838810 55838810 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:55838810G>A ENST00000302000.6 - 3 765 c.671C>T c.(670-672)cCt>cTt p.P224L PYGO1_ENST00000563719.1_Missense_Mutation_p.P224L NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 224 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GTTTGGGGGAGGAATAAAAGA 0.378000 5 89 0 0 0.000602 0 0 TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58089064 58089064 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:58089064C>T ENST00000407042.3 - 0 779 CAGAGCCTTCCCCCAAGATGT 0.617000 4 116 0 0 0.009096 0 0 STK31 56164 broad.mit.edu 37 7 23808714 23808714 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:23808714G>A ENST00000354639.3 + 12 1912 c.1448G>A c.(1447-1449)aGa>aAa p.R483K STK31_ENST00000355870.3_Missense_Mutation_p.R506K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.R483K|STK31_ENST00000433467.2_Missense_Mutation_p.R506K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 506 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTGATAAAAGAGAGGAGTTC 0.403000 6 83 0 0 0.001984 0 0 C5AR2 27202 broad.mit.edu 37 19 47844136 47844136 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:47844136C>T ENST00000595464.1 + 2 298 c.80C>T c.(79-81)gCc>gTc p.A27V C5AR2_ENST00000257267.2_Missense_Mutation_p.A27V|C5AR2_ENST00000600626.1_Missense_Mutation_p.A27V NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 CTGGATGGCGCCTGCCTGGCC 0.662000 5 106 0 0 0.001168 0 0 C1orf111 284680 broad.mit.edu 37 1 162344380 162344380 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:162344380C>T ENST00000367935.4 - 3 323 c.244G>A c.(244-246)Gga>Aga p.G82R RP11-565P22.6_ENST00000431696.1_Intron|C1orf111_ENST00000493255.1_5'UTR NM_182581.3 NP_872387.2 Q5T0L3 CA111_HUMAN chromosome 1 open reading frame 111 82 p.G82R(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) AGCTTCTCTCCGTGCTGGGTA 0.572000 5 121 0 0 0.000602 0 0 AHCY 191 broad.mit.edu 37 20 32879291 32879291 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:32879291G>A ENST00000538132.1 - 5 794 c.408C>T c.(406-408)ctC>ctT p.L136L AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Silent_p.L164L NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 164 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TCATCTTGTAGAGGTTGTGGA 0.567000 7 122 0 0 0.001984 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166530 161166530 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:161166530G>A ENST00000367996.4 - 2 1202 c.774C>T c.(772-774)atC>atT p.I258I ADAMTS4_ENST00000367995.3_Silent_p.I258I NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 258 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAGGATTGCGGATGCTTGGGT 0.627000 5 130 0 0 0.000602 0 0 ARID1B 57492 broad.mit.edu 37 6 157522413 157522413 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:157522413C>T ENST00000346085.5 + 18 4686 c.4685C>T c.(4684-4686)tCc>tTc p.S1562F ARID1B_ENST00000367148.1_Missense_Mutation_p.S1602F|ARID1B_ENST00000275248.4_Missense_Mutation_p.S1544F|ARID1B_ENST00000350026.5_Missense_Mutation_p.S1549F NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1549 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TTCCAGCGCTCCCTGGAGAAC 0.617000 5 121 0 0 0.000602 0 0 H2AFY2 55506 broad.mit.edu 37 10 71835480 71835480 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:71835480C>T ENST00000373255.4 + 2 330 c.66C>T c.(64-66)atC>atT p.I22I NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 22 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CAGGTGTCATCTTTCCAGTGG 0.552000 7 58 0 0 0.003080 0 0 SCN1A 6323 broad.mit.edu 37 2 166901655 166901655 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:166901655G>A ENST00000423058.2 - 10 1577 c.1560C>T c.(1558-1560)ttC>ttT p.F520F SCN1A_ENST00000303395.4_Silent_p.F520F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F520F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F520F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 520 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGATTTTTGGAATTCATCCT 0.438000 6 179 0 0 0.003080 0 0 F7 2155 broad.mit.edu 37 13 113770093 113770093 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:113770093G>A ENST00000375581.3 + 6 585 c.550G>A c.(550-552)Ggg>Agg p.G184R F7_ENST00000346342.3_Missense_Mutation_p.G162R|F7_ENST00000541084.1_Missense_Mutation_p.G115R NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 184 EGF-like 2. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GCTGGCAGACGGGGTGTCCTG 0.597000 3 31 0 0 0.009096 0 0 NOTCH2 4853 broad.mit.edu 37 1 120469125 120469125 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:120469125G>A ENST00000256646.2 - 24 4221 c.4002C>T c.(4000-4002)ccC>ccT p.P1334P NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1334 EGF-like 34. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACTTACCGGGGGACAACGGC 0.488000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 235 0 0 0.001984 0 0 GSN 2934 broad.mit.edu 37 9 124074597 124074597 + Translation_Start_Site SNP C C A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:124074597C>A ENST00000373807.1 + 0 849 GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000341272.2_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373818.4_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron P06396 GELS_HUMAN gelsolin actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 GCACTGACTTCCTGGGTCTCT 0.597000 5 126 0.000602214 0.000658989 0.000602 1 0 MOXD1 26002 broad.mit.edu 37 6 132649188 132649188 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:132649188G>A ENST00000367963.3 - 6 1028 c.910C>T c.(910-912)Cta>Tta p.L304L MOXD1_ENST00000336749.3_Silent_p.L236L NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 304 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TGGACTTCTAGGAGCACATAA 0.353000 4 95 0 0 0.009096 0 0 FBXW10 10517 broad.mit.edu 37 17 18673392 18673392 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:18673392G>A ENST00000308799.4 + 10 2306 c.2087G>A c.(2086-2088)gGc>gAc p.G696D FBXW10_ENST00000395667.1_Missense_Mutation_p.G667D|FBXW10_ENST00000573605.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Missense_Mutation_p.G667D Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 667 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TTTATTCAGGGCAACAGGTGG 0.463000 6 269 0 0 0.004482 0 0 ZAN 7455 broad.mit.edu 37 7 100344181 100344181 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100344181G>A ENST00000542585.1 + 0 935 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATGCTCCTGGACCCCAAGAA 0.587000 5 58 0 0 0.000602 0 0 FILIP1 27145 broad.mit.edu 37 6 76023417 76023417 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:76023417G>A ENST00000393004.2 - 5 2352 c.2131C>T c.(2131-2133)Cgg>Tgg p.R711W FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 711 p.R711W(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTTCCAACCGAAATCTGTGT 0.413000 9 178 0 0 0.006214 0 0 ATP9A 10079 broad.mit.edu 37 20 50342430 50342430 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:50342430G>A ENST00000338821.5 - 3 519 c.255C>T c.(253-255)ttC>ttT p.F85F ATP9A_ENST00000402822.1_Silent_p.F85F|ATP9A_ENST00000311637.5_Silent_p.F70F|ATP9A_ENST00000477492.1_5'UTR NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 85 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAAGAAGTAAGAAATAGAGGT 0.438000 6 61 0 0 0.001984 0 0 PHF12 57649 broad.mit.edu 37 17 27254014 27254014 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:27254014G>A ENST00000577226.1 - 3 662 c.316C>T c.(316-318)Cga>Tga p.R106* PHF12_ENST00000332830.4_Nonsense_Mutation_p.R106*|PHF12_ENST00000268756.3_Nonsense_Mutation_p.R106*|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA Q96QT6 PHF12_HUMAN PHD finger protein 12 106 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) ATTACCTTTCGGCGAACAGTG 0.493000 4 75 0 0 0.009096 0 0 FN1 2335 broad.mit.edu 37 2 216271880 216271880 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:216271880G>A ENST00000354785.4 - 18 3052 c.2683C>T c.(2683-2685)Caa>Taa p.Q895* FN1_ENST00000323926.6_Nonsense_Mutation_p.Q895*|FN1_ENST00000359671.1_Nonsense_Mutation_p.Q895*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q895*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q895*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q895*|FN1_ENST00000421182.1_Nonsense_Mutation_p.Q895*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q895*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q895*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q895*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q895*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q895*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q895* P02751 FINC_HUMAN fibronectin 1 895 Fibronectin type-III 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTTCTTGTTGAATGACAACA 0.423000 7 91 0 0 0.003080 0 0 ESRRB 2103 broad.mit.edu 37 14 76948948 76948948 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:76948948G>A ENST00000380887.2 + 5 705 c.633G>A c.(631-633)aaG>aaA p.K211K ESRRB_ENST00000261532.7_Silent_p.K211K|ESRRB_ENST00000556177.1_Silent_p.K211K|ESRRB_ENST00000509242.1_Silent_p.K211K A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CAGTGACCAAGATTGTCTCAT 0.557000 5 46 0 0 0.001984 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926341 156926341 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:156926341G>A ENST00000368194.3 - 19 2581 c.1542C>T c.(1540-1542)ttC>ttT p.F514F ARHGEF11_ENST00000361409.2_Silent_p.F474F NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 474 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TATTGAGGGCGAAGTCCATGG 0.527000 5 101 0 0 0.001984 0 0 MCHR2 84539 broad.mit.edu 37 6 100368900 100368900 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:100368900G>A ENST00000281806.2 - 6 1253 c.939C>T c.(937-939)ttC>ttT p.F313F MCHR2_ENST00000369212.1_Silent_p.F313F|MCHR2_ENST00000445970.1_Silent_p.F313F NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 313 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) GACGTTTCTGGAAATTTCCAC 0.438000 9 119 0 0 0.008291 0 0 C2 717 broad.mit.edu 37 6 31912759 31912759 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:31912759G>A ENST00000299367.5 + 17 2308 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K C2_ENST00000469372.1_Missense_Mutation_p.E432K|CFB_ENST00000477310.1_Intron|C2_ENST00000468407.1_3'UTR|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.E464K|C2_ENST00000442278.2_Missense_Mutation_p.E546K NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GCTGGCAGGAGAATCTGGGGG 0.542000 17 486 0 0 0.008871 0 0 MMD2 221938 broad.mit.edu 37 7 4965083 4965083 + Splice_Site SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:4965083G>A ENST00000404774.3 - 2 322 c.129_splice c.e2+1 p.A43_splice MMD2_ENST00000406755.1_Splice_Site_p.A43_splice|MMD2_ENST00000401401.3_Splice_Site_p.A43_splice NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 43 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CCAACTCACAGCATGGGTGGC 0.587000 6 113 0 0 0.001984 0 0 VPS28 51160 broad.mit.edu 37 8 145650164 145650164 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:145650164G>A ENST00000377348.2 - 7 428 c.339C>T c.(337-339)gaC>gaT p.D113D VPS28_ENST00000292510.4_Silent_p.D113D|VPS28_ENST00000526054.1_Silent_p.D113D|VPS28_ENST00000529182.1_Silent_p.D113D NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 113 VPS28 N-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TGATGGGCCGGTCCTCCTTGA 0.667000 6 91 0 0 0.001168 0 0 PLCB4 5332 broad.mit.edu 37 20 9438063 9438063 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:9438063G>A ENST00000378501.2 + 30 2978 c.2963G>A c.(2962-2964)gGa>gAa p.G988E PLCB4_ENST00000278655.4_Missense_Mutation_p.G988E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G1000E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G988E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G988E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G1000E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 988 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATTTTCAGGGGAAGTAATTGT 0.348000 4 49 0 0 0.000602 0 0 FTH1 2495 broad.mit.edu 37 11 61732984 61732984 + Missense_Mutation SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:61732984A>G ENST00000273550.7 - 2 352 c.118T>C c.(118-120)Tac>Cac p.Y40H FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_5'UTR|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Missense_Mutation_p.Y10H NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 40 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TCAAAGTAGTAAGACTGAAAG 0.473000 5 92 0 0 0.000602 0 0 TRPM2 7226 broad.mit.edu 37 21 45838352 45838352 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:45838352G>A ENST00000397928.1 + 22 3820 c.3375G>A c.(3373-3375)gaG>gaA p.E1125E TRPM2_ENST00000397932.2_Silent_p.E1125E|TRPM2_ENST00000300482.5_Silent_p.E1125E|TRPM2_ENST00000300481.9_Silent_p.E1105E|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1125 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TATCCTGGGAGATCTACCTGA 0.592000 5 136 0 0 0.000602 0 0 CREB5 9586 broad.mit.edu 37 7 28610108 28610108 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:28610108G>A ENST00000357727.2 + 5 807 c.417G>A c.(415-417)caG>caA p.Q139Q CREB5_ENST00000396300.2_Silent_p.Q132Q|CREB5_ENST00000409603.1_Silent_p.Q106Q|CREB5_ENST00000396299.2_Silent_p.Q106Q NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 139 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CGTCGCCTCAGTCCAGCTCTG 0.617000 22 429 0 0 0.012319 0 0 NBEAL1 65065 broad.mit.edu 37 2 203972708 203972708 + Silent SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:203972708A>G ENST00000449802.1 + 13 1992 c.1659A>G c.(1657-1659)gcA>gcG p.A553A NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 553 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGACTCGAGCAATCCTGACAA 0.463000 14 532 0 0 0.004007 0 0 KIF21B 23046 broad.mit.edu 37 1 200967660 200967660 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:200967660G>A ENST00000332129.2 - 14 2245 c.1929C>T c.(1927-1929)atC>atT p.I643I KIF21B_ENST00000360529.5_Silent_p.I643I|KIF21B_ENST00000422435.2_Silent_p.I643I|KIF21B_ENST00000461742.2_Silent_p.I643I NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 643 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCTTGATTTCGATCTCACAAG 0.572000 5 76 0 0 0.000602 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905214 45905214 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:45905214G>A ENST00000311275.7 - 11 1517 c.1264C>T c.(1264-1266)Cgc>Tgc p.R422C ZMYND8_ENST00000446994.2_Missense_Mutation_p.R359C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R417C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R442C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R417C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R422C|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R442C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R422C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R422C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R449C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R417C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R417C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R442C|ZMYND8_ENST00000468376.2_5'UTR Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 422 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GAAATCCGGCGGCCTGTGCCC 0.577000 4 99 0 0 0.009096 0 0 LILRB4 11006 broad.mit.edu 37 19 55175871 55175871 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:55175871G>A ENST00000391736.1 + 6 905 c.590G>A c.(589-591)aGc>aAc p.S197N LILRB4_ENST00000391734.3_Missense_Mutation_p.S197N|LILRB4_ENST00000391733.3_Missense_Mutation_p.S197N|LILRB4_ENST00000270452.2_Missense_Mutation_p.S197N|LILRB4_ENST00000430952.2_Missense_Mutation_p.S197N NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 197 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AGGTGCTTCAGCTCACACGGC 0.592000 4 62 0 0 0.009096 0 0 NELL2 4753 broad.mit.edu 37 12 45105149 45105149 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:45105149G>A ENST00000429094.2 - 11 1619 c.1115C>T c.(1114-1116)tCa>tTa p.S372L NELL2_ENST00000437801.2_Missense_Mutation_p.S422L|NELL2_ENST00000452445.2_Missense_Mutation_p.S372L|NELL2_ENST00000551601.1_Missense_Mutation_p.S371L|NELL2_ENST00000549027.1_Missense_Mutation_p.S371L|NELL2_ENST00000395487.2_Missense_Mutation_p.S371L|NELL2_ENST00000333837.4_Missense_Mutation_p.S395L NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 372 VWFC 2. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGGACAGCCTGAACTCTCAAC 0.388000 4 40 0 0 0.000602 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657888 72657888 + RNA SNP A A C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:72657888A>C ENST00000425256.1 - 0 2023 NR_002164.1 tcaaccaagaaggccaggtct 0.488000 4 111 0 0 0.000602 0 0 SULT2A1 6822 broad.mit.edu 37 19 48389444 48389444 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:48389444C>T ENST00000222002.3 - 1 210 c.71G>A c.(70-72)aGa>aAa p.R24K NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 24 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) ACGTACTTTTCTTAAGGTTTC 0.428000 8 109 0 0 0.004482 0 0 TRAV7 28686 broad.mit.edu 37 14 22251601 22251601 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:22251601C>T ENST00000390429.3 + 0 218 TCCATGTATTCAGCTGGATAT 0.453000 4 39 0 0 0.009096 0 0 RP1 6101 broad.mit.edu 37 8 55541534 55541534 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:55541534G>A ENST00000220676.1 + 4 5240 c.5092G>A c.(5092-5094)Gag>Aag p.E1698K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1698 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGAATTCCAGGAGGAAAGACA 0.403000 4 81 0 0 0.009096 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841876 8841876 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:8841876C>T ENST00000324060.2 + 1 561 c.486C>T c.(484-486)atC>atT p.I162I NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGACCTCCATCACCCTGCATT 0.552000 10 126 0 0 0.010729 0 0 DMC1 11144 broad.mit.edu 37 22 38917729 38917729 + Splice_Site SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38917729G>A ENST00000216024.2 - 13 1113 c.836_splice c.e13-1 p.T279_splice DMC1_ENST00000428462.2_Splice_Site_p.T224_splice NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 279 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) CTGCCTGAAAGCTGAATTAAT 0.408000 Homologous recombination 8 80 0 0 0.003080 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435999 5435999 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:5435999G>A ENST00000380419.3 - 4 859 c.822C>T c.(820-822)ttC>ttT p.F274F TUBAL3_ENST00000479328.1_Silent_p.F234F NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 274 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CTGTCATGGGGAAATGTATTC 0.512000 10 170 0 0 0.008291 0 0 YWHAE 7531 broad.mit.edu 37 17 1264404 1264404 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:1264404G>A ENST00000264335.8 - 4 827 c.560C>T c.(559-561)tCc>tTc p.S187F YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.S165F NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 187 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) ACGGTCAGGGGAATTAAGAAT 0.483000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 6 70 0 0 0.003080 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388638 1388638 + Silent SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:1388638A>G ENST00000324803.4 + 1 3299 c.339A>G c.(337-339)ggA>ggG p.G113G NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 113 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCATGTGGAGTGCCCGCCT 0.677000 4 186 0 0 0.001168 0 0 PSG8 440533 broad.mit.edu 37 19 43258618 43258618 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:43258618C>T ENST00000404209.4 - 5 1206 c.1110G>A c.(1108-1110)ggG>ggA p.G370G PSG8_ENST00000306511.4_Silent_p.G370G|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.G248G|PSG8_ENST00000401467.2_Silent_p.G277G NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 370 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCTGAAACTTCCCATTAATTG 0.463000 15 258 0 0 0.006122 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174698 150174698 + Nonsense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150174698C>T ENST00000307271.3 + 5 2402 c.1828C>T c.(1828-1830)Cag>Tag p.Q610* NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 610 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGGCCAGGCCCAGGAAACCCA 0.458000 5 122 0 0 0.001168 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427349 38427349 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:38427349C>T ENST00000322350.5 + 14 2395 c.2049C>T c.(2047-2049)gtC>gtT p.V683V EGFLAM_ENST00000354891.3_Silent_p.V683V|EGFLAM_ENST00000336740.6_Silent_p.V449V|EGFLAM_ENST00000397202.2_Silent_p.V49V|EGFLAM-AS1_ENST00000508986.1_RNA NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 683 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGACCGGTGTCCTCAGGTGAG 0.502000 10 179 0 0 0.010729 0 0 NF1 4763 broad.mit.edu 37 17 29687605 29687605 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:29687605C>T ENST00000358273.4 + 57 8644 c.8261C>T c.(8260-8262)tCc>tTc p.S2754F NF1_ENST00000356175.3_Missense_Mutation_p.S2733F|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.S547F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2754 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.S2751fs*27(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGTGAAGAATCCCTCCTGACT 0.448000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 96 0 0 0.003080 0 0 TRPC4 7223 broad.mit.edu 37 13 38320170 38320170 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:38320170G>A ENST00000379705.3 - 3 1658 c.801C>T c.(799-801)atC>atT p.I267I TRPC4_ENST00000426868.2_Silent_p.I267I|TRPC4_ENST00000358477.2_Silent_p.I267I|TRPC4_ENST00000447043.1_Silent_p.I267I|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Silent_p.I267I|TRPC4_ENST00000355779.2_Silent_p.I267I|TRPC4_ENST00000379673.2_Silent_p.I267I Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 267 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AATTAAGAATGATTTCCAGTT 0.393000 5 136 0 0 0.000602 0 0 GALNT14 79623 broad.mit.edu 37 2 31215756 31215756 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:31215756C>T ENST00000349752.5 - 2 886 c.247G>A c.(247-249)Gag>Aag p.E83K GALNT14_ENST00000420311.2_Missense_Mutation_p.E48K|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.E63K|GALNT14_ENST00000356174.3_Missense_Mutation_p.E83K NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 83 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CGCTCACTCTCCCGCTGGTTG 0.562000 5 88 0 0 0.000602 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639975 94639975 + Missense_Mutation SNP T T A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:94639975T>A ENST00000260526.6 - 23 3418 c.3236A>T c.(3235-3237)aAa>aTa p.K1079I NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1079 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTCCTGAATTTTCTGTAGAGT 0.413000 6 186 0 0 0.001168 0 0 CRB1 23418 broad.mit.edu 37 1 197404165 197404165 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:197404165G>A ENST00000367397.1 + 5 2173 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K CRB1_ENST00000535699.1_Missense_Mutation_p.E1034K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.E1058K|CRB1_ENST00000367399.2_Missense_Mutation_p.E946K|CRB1_ENST00000544212.1_Missense_Mutation_p.E539K P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1058 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.E1058K(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGACAACGAAACACCTTT 0.443000 6 67 0 0 0.001168 0 0 SRL 6345 broad.mit.edu 37 16 4242622 4242622 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:4242622C>T ENST00000399609.3 - 6 966 c.954G>A c.(952-954)ctG>ctA p.L318L SRL_ENST00000537996.1_Silent_p.L276L NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 777 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TCACCTGATTCAGGTCTTCTA 0.562000 6 131 0 0 0.003080 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870034 151870034 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:151870034C>T ENST00000329342.5 + 3 949 c.724C>T c.(724-726)Ccc>Tcc p.P242S NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 242 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTTCGGGGATCCCAAGAAGCT 0.547000 9 107 0 0 0.008291 0 0 PRKCZ 5590 broad.mit.edu 37 1 2082350 2082350 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:2082350G>A ENST00000400921.2 + 6 943 c.260G>A c.(259-261)cGg>cAg p.R87Q PRKCZ_ENST00000400920.1_Missense_Mutation_p.R87Q|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 270 Interaction with SQSTM1 (By similarity).|OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CTCCTGGTGCGGTTGAAGAAG 0.557000 4 67 0 0 0.000602 0 0 SV2B 9899 broad.mit.edu 37 15 91835678 91835678 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:91835678G>A ENST00000394232.1 + 13 2418 c.1948G>A c.(1948-1950)Ggg>Agg p.G650R SV2B_ENST00000545111.2_Missense_Mutation_p.G499R|SV2B_ENST00000330276.4_Missense_Mutation_p.G650R NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 650 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCTTTTGTTGGGATAACCAA 0.498000 39 616 0 0 0.009718 0 0 LTF 4057 broad.mit.edu 37 3 46487963 46487963 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:46487963G>A ENST00000231751.4 - 11 1620 c.1325C>T c.(1324-1326)cCt>cTt p.P442L LTF_ENST00000417439.1_Missense_Mutation_p.P440L|LTF_ENST00000426532.2_Missense_Mutation_p.P398L NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 442 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GTTAGGATCAGGGTCACTGCT 0.433000 4 86 0 0 0.009096 0 0 JDP2 122953 broad.mit.edu 37 14 75904779 75904779 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:75904779C>T ENST00000435893.2 + 2 429 c.156C>T c.(154-156)ttC>ttT p.F52F JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000419727.2_Silent_p.F52F|JDP2_ENST00000267569.5_Silent_p.F63F|JDP2_ENST00000437176.1_Silent_p.F52F NM_001135047.1|NM_130469.3 NP_001128519.1|NP_569736.1 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 52 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) CCTTGCACTTCCTGGAGGTGA 0.607000 3 19 0 0 0.004672 0 0 TENM2 57451 broad.mit.edu 37 5 167630770 167630770 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:167630770C>T ENST00000519204.1 + 17 3262 c.3144C>T c.(3142-3144)ttC>ttT p.F1048F TENM2_ENST00000518659.1_Silent_p.F1169F|TENM2_ENST00000520394.1_Silent_p.F937F|TENM2_ENST00000403607.2_Silent_p.F993F|TENM2_ENST00000545108.1_Silent_p.F1169F teneurin transmembrane protein 2 p.F1002F(1)|p.F1169F(1) TTCAGGGATTCGAGCTGGACC 0.498000 7 124 0 0 0.003080 0 0 LAMB4 22798 broad.mit.edu 37 7 107704300 107704300 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:107704300C>T ENST00000388781.3 - 22 3050 c.2967G>A c.(2965-2967)ggG>ggA p.G989G LAMB4_ENST00000388780.3_Silent_p.G989G|LAMB4_ENST00000205386.4_Silent_p.G989G NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 989 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GAAGGCACTCCCCTGTTACCC 0.507000 5 104 0 0 0.001168 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581193 234581193 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:234581193G>A ENST00000354728.4 + 1 695 c.613G>A c.(613-615)Gag>Aag p.E205K UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) GACTTTCAAGGAGAGAGTACG 0.438000 7 223 0 0 0.003080 0 0 P2RY13 53829 broad.mit.edu 37 3 151046682 151046682 + Silent SNP A A C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:151046682A>C ENST00000325602.5 - 2 181 c.162T>G c.(160-162)gtT>gtG p.V54V MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 54 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) CGGTCAAGAAAACCACTGTGT 0.507000 6 127 0 0 0.001168 0 0 ZNF611 81856 broad.mit.edu 37 19 53209792 53209792 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:53209792G>A ENST00000543227.1 - 6 790 c.516C>T c.(514-516)atC>atT p.I172I ZNF611_ENST00000453741.2_Silent_p.I103I|ZNF611_ENST00000602162.1_Silent_p.I103I|ZNF611_ENST00000319783.1_Silent_p.I172I|ZNF611_ENST00000595798.1_Silent_p.I103I|ZNF611_ENST00000540744.1_Silent_p.I172I NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTTCACCTTTGATCTGAAATA 0.403000 6 134 0 0 0.001168 0 0 SCN7A 6332 broad.mit.edu 37 2 167262274 167262274 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:167262274C>T ENST00000409855.1 - 25 4991 c.4865G>A c.(4864-4866)cGa>cAa p.R1622Q NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1622 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTCTTGTTTTCGTTTCAAAGT 0.363000 7 173 0 0 0.001984 0 0 GALNT16 57452 broad.mit.edu 37 14 69792741 69792741 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:69792741G>A ENST00000337827.4 + 5 892 c.565G>A c.(565-567)Gaa>Aaa p.E189K GALNT16_ENST00000448469.3_Missense_Mutation_p.E189K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E189K NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 TGATCGGCGGGAAGGTGAGTC 0.572000 7 55 0 0 0.001984 0 0 LILRA1 11024 broad.mit.edu 37 19 55107142 55107142 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:55107142C>T ENST00000251372.3 + 6 882 c.700C>T c.(700-702)Cct>Tct p.P234S LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 234 Ig-like C2-type 3. 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) GCAGCCAGGTCCTATAGTGGC 0.537000 5 109 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61513451 61513451 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:61513451G>A ENST00000266070.4 - 16 4182 c.3857C>T c.(3856-3858)cCa>cTa p.P1286L DIDO1_ENST00000395343.1_Missense_Mutation_p.P1286L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1286 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGCTGTGGCTGGGCTGGGGGC 0.642000 8 88 0 0 0.008291 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39482342 39482342 + Missense_Mutation SNP T T G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:39482342T>G ENST00000407997.3 + 6 1151 c.794T>G c.(793-795)gTg>gGg p.V265G APOBEC3G_ENST00000452957.2_Missense_Mutation_p.V265G NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) TTCCTGGACGTGATTCCCTTT 0.498000 5 84 0 0 0.001168 0 0 COL6A2 1292 broad.mit.edu 37 21 47541503 47541503 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:47541503C>T ENST00000300527.4 + 18 1596 c.1492C>T c.(1492-1494)Cgt>Tgt p.R498C COL6A2_ENST00000409416.1_Missense_Mutation_p.R498C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R498C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R498C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R498C NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 498 Triple-helical region. R -> H (in UCMD). axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGCAGGACCCCGTGGAGACTC 0.657000 3 23 0 0 0.009096 0 0 NLRP5 126206 broad.mit.edu 37 19 56539771 56539771 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:56539771C>T ENST00000390649.3 + 7 2172 c.2172C>T c.(2170-2172)tcC>tcT p.S724S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 724 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) TAGCATCTTCCTTCTGCCTCC 0.488000 9 180 0 0 0.008291 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904714 73904714 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:73904714G>A ENST00000342056.2 + 15 2831 c.2433G>A c.(2431-2433)caG>caA p.Q811Q KCNQ5_ENST00000402622.2_Silent_p.Q802Q|KCNQ5_ENST00000414165.2_Silent_p.Q682Q|KCNQ5_ENST00000403813.2_Silent_p.Q783Q|KCNQ5_ENST00000370398.1_Silent_p.Q792Q|KCNQ5_ENST00000355635.3_Silent_p.Q793Q|KCNQ5_ENST00000355194.4_Silent_p.Q792Q NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 792 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAAATGTTCAGGTTGCACAGT 0.507000 4 62 0 0 0.009096 0 0 FN1 2335 broad.mit.edu 37 2 216289870 216289870 + Missense_Mutation SNP T T C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:216289870T>C ENST00000354785.4 - 7 1352 c.983A>G c.(982-984)aAt>aGt p.N328S FN1_ENST00000323926.6_Missense_Mutation_p.N328S|FN1_ENST00000359671.1_Missense_Mutation_p.N328S|FN1_ENST00000426059.1_Missense_Mutation_p.N328S|FN1_ENST00000446046.1_Missense_Mutation_p.N328S|FN1_ENST00000443816.1_Missense_Mutation_p.N328S|FN1_ENST00000432072.2_Missense_Mutation_p.N328S|FN1_ENST00000421182.1_Missense_Mutation_p.N328S|FN1_ENST00000357867.4_Missense_Mutation_p.N328S|FN1_ENST00000357009.2_Missense_Mutation_p.N328S|FN1_ENST00000356005.4_Missense_Mutation_p.N328S|FN1_ENST00000346544.3_Missense_Mutation_p.N328S|FN1_ENST00000345488.5_Missense_Mutation_p.N328S|FN1_ENST00000336916.4_Missense_Mutation_p.N328S P02751 FINC_HUMAN fibronectin 1 328 Collagen-binding.|Fibronectin type-I 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATTTGCTTATTTCCTTGTGT 0.498000 8 230 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9026227 9026227 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9026227C>T ENST00000397910.4 - 14 36962 c.36759G>A c.(36757-36759)agG>agA p.R12253R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12255 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTGAACTTCCTGGAGCCAG 0.562000 6 166 0 0 0.001168 0 0 OR4K1 79544 broad.mit.edu 37 14 20404655 20404655 + Missense_Mutation SNP T T A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:20404655T>A ENST00000285600.4 + 1 889 c.830T>A c.(829-831)gTt>gAt p.V277D NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTCTACACTGTTTGTACTCCC 0.418000 5 168 0 0 0.000602 0 0 PIGC 5279 broad.mit.edu 37 1 172411668 172411668 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:172411668C>T ENST00000367728.1 - 1 1558 c.95G>A c.(94-96)cGa>cAa p.R32Q PIGC_ENST00000344529.4_Missense_Mutation_p.R32Q|PIGC_ENST00000258324.1_Missense_Mutation_p.R32Q|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 32 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TTCCAGGAATCGCCGGTCCAC 0.488000 5 113 0 0 0.001168 0 0 HNF1A 6927 broad.mit.edu 37 12 121431342 121431342 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:121431342G>A ENST00000257555.6 + 3 772 c.546G>A c.(544-546)caG>caA p.Q182Q HNF1A_ENST00000544413.1_Silent_p.Q182Q|HNF1A_ENST00000400024.2_Silent_p.Q182Q|HNF1A_ENST00000402929.1_Silent_p.Q182Q|HNF1A_ENST00000541395.1_Silent_p.Q182Q|HNF1A_ENST00000543427.1_Silent_p.Q65Q|HNF1A_ENST00000538626.1_Intron P20823 HNF1A_HUMAN HNF1 homeobox A 182 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATGCAGGGCAGGGAGGGCTGA 0.592000 Hepatic Adenoma, Familial Clustering of 15 374 0 0 0.004007 0 0 DZIP1L 199221 broad.mit.edu 37 3 137790621 137790621 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:137790621G>A ENST00000327532.2 - 12 1841 c.1479C>T c.(1477-1479)gtC>gtT p.V493V DZIP1L_ENST00000469243.1_Silent_p.V493V|DZIP1L_ENST00000488595.1_Intron NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 493 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCTCCCGCTGGACTCTCAGCA 0.517000 10 196 0 0 0.008291 0 0 OR9A4 130075 broad.mit.edu 37 7 141618723 141618723 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141618723C>T ENST00000548136.1 + 1 107 c.48C>T c.(46-48)ttC>ttT p.F16F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TCCTTGGCTTCCCTGGCTCTG 0.378000 8 147 0 0 0.004482 0 0 ZNF543 125919 broad.mit.edu 37 19 57838039 57838039 + Missense_Mutation SNP G G T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:57838039G>T ENST00000321545.4 + 3 529 c.184G>T c.(184-186)Gat>Tat p.D62Y NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 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;0.0257) CTACCAGTTGGATCACAGACA 0.498000 6 73 1.06961e-07 1.18441e-07 0.003080 1 0 CUL3 8452 broad.mit.edu 37 2 225370813 225370813 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:225370813G>A ENST00000264414.4 - 8 1404 c.1066C>T c.(1066-1068)Ctc>Ttc p.L356F CUL3_ENST00000344951.4_Missense_Mutation_p.L290F|CUL3_ENST00000409777.1_Missense_Mutation_p.L332F|CUL3_ENST00000409096.1_Missense_Mutation_p.L332F NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 356 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GATTCCAGGAGGAAGCGATCG 0.358000 3 29 0 0 0.009096 0 0 CNN1 1264 broad.mit.edu 37 19 11657516 11657516 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:11657516C>T ENST00000592923.1 + 4 639 c.62C>T c.(61-63)tCc>tTc p.S21F CNN1_ENST00000252456.2_Missense_Mutation_p.S71F|CNN1_ENST00000535659.2_Missense_Mutation_p.S21F|CNN1_ENST00000544952.1_Missense_Mutation_p.S51F P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 71 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 CAGCCAGGCTCCGTGAAGAAG 0.567000 4 102 0 0 0.009096 0 0 GLRB 2743 broad.mit.edu 37 4 158060056 158060056 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:158060056G>A ENST00000264428.4 + 7 976 c.706G>A c.(706-708)Gaa>Aaa p.E236K GLRB_ENST00000509282.1_Missense_Mutation_p.E236K|GLRB_ENST00000541722.1_Missense_Mutation_p.E236K|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 236 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) TATCAAAAAGGAAGATATTGA 0.299000 5 69 0 0 0.001984 0 0 TJP3 27134 broad.mit.edu 37 19 3735929 3735929 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:3735929C>T ENST00000541714.2 + 10 1585 c.1123C>T c.(1123-1125)Cgt>Tgt p.R375C TJP3_ENST00000589378.1_Missense_Mutation_p.R384C|TJP3_ENST00000382008.3_Missense_Mutation_p.R389C|TJP3_ENST00000587686.1_Missense_Mutation_p.R394C|TJP3_ENST00000262968.9_Missense_Mutation_p.R408C|TJP3_ENST00000539908.2_Missense_Mutation_p.R339C NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 389 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CATGGAGGATCGTGGGTATGT 0.527000 5 93 0 0 0.001168 0 0 DICER1 23405 broad.mit.edu 37 14 95584028 95584028 + Silent SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:95584028A>G ENST00000526495.1 - 11 1731 c.1440T>C c.(1438-1440)acT>acC p.T480T DICER1_ENST00000541352.1_Silent_p.T480T|DICER1_ENST00000393063.1_Silent_p.T480T|DICER1_ENST00000343455.3_Silent_p.T480T|DICER1_ENST00000527414.1_Silent_p.T480T Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 480 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGCCATGTCCAGTTATGAAAT 0.368000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 6 53 0 0 0.001984 0 0 FGD5 152273 broad.mit.edu 37 3 14862924 14862924 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:14862924G>A ENST00000285046.5 + 1 2456 c.2346G>A c.(2344-2346)tcG>tcA p.S782S FGD5_ENST00000543601.1_Silent_p.S541S NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 782 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCATGAACTCGGACTATGAGA 0.582000 8 220 0 0 0.004482 0 0 VWA3A 146177 broad.mit.edu 37 16 22166930 22166930 + Missense_Mutation SNP C C G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:22166930C>G ENST00000389397.4 + 33 3616 c.754C>G c.(754-756)Ctg>Gtg p.L252V VWA3A_ENST00000563755.1_Missense_Mutation_p.L252V|VWA3A_ENST00000389398.5_Missense_Mutation_p.L1150V A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1150 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) TTTAAGGATCCTGGCCCAGGA 0.512000 5 137 0 0 0.000602 0 0 GABRQ 55879 broad.mit.edu 37 X 151806767 151806767 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:151806767C>T ENST00000370306.2 + 1 131 c.111C>T c.(109-111)tcC>tcT p.S37S NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 37 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TCGAGTTCTCCTCTGCTGTGC 0.632000 5 32 0 0 0.001168 0 0 ALPK2 115701 broad.mit.edu 37 18 56203320 56203320 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:56203320C>T ENST00000361673.3 - 5 4312 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1367 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTAACATTTTCCTTCCCTCCA 0.453000 4 79 0 0 0.000602 0 0 VN1R2 317701 broad.mit.edu 37 19 53762361 53762361 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:53762361G>A ENST00000341702.3 + 1 817 c.733G>A c.(733-735)Gat>Aat p.D245N NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 245 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) AAAGAAAGGAGATTTGGGATA 0.428000 5 73 0 0 0.000602 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89475915 89475915 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:89475915C>T ENST00000484817.1 - 0 286 GCCACTGAATCTGTCTGGGAC 0.493000 8 143 0 0 0.003080 0 0 FILIP1 27145 broad.mit.edu 37 6 76024879 76024879 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:76024879G>A ENST00000393004.2 - 5 890 c.669C>T c.(667-669)gcC>gcT p.A223A FILIP1_ENST00000237172.7_Silent_p.A223A|FILIP1_ENST00000370020.1_Silent_p.A124A|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 223 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTCTTTGCGGGCTTGATAAG 0.338000 5 46 0 0 0.000602 0 0 RASGRF1 5923 broad.mit.edu 37 15 79339128 79339128 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:79339128G>A ENST00000419573.3 - 5 1112 c.838C>T c.(838-840)Ccc>Tcc p.P280S RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P280S NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 280 DH. 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 TGTGTGATGGGAGGCTTCTTG 0.592000 12 137 0 0 0.001855 0 0 C6orf201 404220 broad.mit.edu 37 6 4099407 4099407 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:4099407C>T ENST00000380175.4 + 3 1024 c.259C>T c.(259-261)Cct>Tct p.P87S C6orf201_ENST00000430835.2_Missense_Mutation_p.P87S|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Missense_Mutation_p.P90S NM_001085401.2 NP_001078870.1 Q7Z4U5 CF201_HUMAN chromosome 6 open reading frame 201 87 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) CACGAAAGAGCCTCCAATGTC 0.413000 4 29 0 0 0.001168 0 0 CRYGB 1419 broad.mit.edu 37 2 209007617 209007617 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:209007617C>T ENST00000260988.4 - 3 320 c.273G>A c.(271-273)atG>atA p.M91I NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 91 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) CGTAGATCTTCATTCTGTAAG 0.473000 5 133 0 0 0.004482 0 0 FLG 2312 broad.mit.edu 37 1 152284324 152284324 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152284324G>A ENST00000368799.1 - 3 3073 c.3038C>T c.(3037-3039)tCc>tTc p.S1013F FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1013 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCACCAGAGGAAGTCTCTGC 0.587000 Ichthyosis 10 393 0 0 0.008291 0 0 CLEC4E 26253 broad.mit.edu 37 12 8692542 8692542 + Splice_Site SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:8692542C>T ENST00000299663.3 - 2 204 c.37_splice c.e2-1 p.E13_splice CLEC4E_ENST00000545274.1_Splice_Site_p.E13_splice|CLEC4E_ENST00000446457.2_Splice_Site_p.E13_splice NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 13 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) AGCATCCTCTCTCTGTAGAAA 0.403000 5 126 0 0 0.000602 0 0 NLRP7 199713 broad.mit.edu 37 19 55450557 55450557 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:55450557G>A ENST00000588756.1 - 6 2116 c.1630C>T c.(1630-1632)Ccg>Tcg p.P544S NLRP7_ENST00000592784.1_Missense_Mutation_p.P544S|NLRP7_ENST00000590030.1_Missense_Mutation_p.P544S|NLRP7_ENST00000340844.2_Missense_Mutation_p.P544S|NLRP7_ENST00000328092.5_Missense_Mutation_p.P544S|NLRP7_ENST00000446217.1_Missense_Mutation_p.P572S|NLRP7_ENST00000448121.2_Missense_Mutation_p.P544S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 544 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTGATGTCCGGTGACATCCGG 0.512000 5 76 0 0 0.000602 0 0 CLDN11 5010 broad.mit.edu 37 3 170150390 170150390 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:170150390C>T ENST00000064724.3 + 3 672 c.470C>T c.(469-471)tCc>tTc p.S157F CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 157 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTTGGCTACTCCCTGTATGCA 0.602000 5 92 0 0 0.001168 0 0 ADAD2 161931 broad.mit.edu 37 16 84230291 84230291 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:84230291C>T ENST00000268624.3 + 10 1904 c.1811C>T c.(1810-1812)tCc>tTc p.S604F RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.S522F|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 522 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TGCAAGGCCTCCTTTCTCCGG 0.627000 5 144 0 0 0.000602 0 0 BEND2 139105 broad.mit.edu 37 X 18221933 18221933 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:18221933C>T ENST00000380033.4 - 5 727 c.595G>A c.(595-597)Gaa>Aaa p.E199K BEND2_ENST00000380030.3_Missense_Mutation_p.E199K NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 199 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AGGTCTGCTTCCTGCAGTTCA 0.488000 16 96 0 0 0.003163 0 0 KCNH5 27133 broad.mit.edu 37 14 63174717 63174717 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:63174717C>T ENST00000322893.7 - 11 2744 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 826 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCCAGTCTTCCTTTTTCTCC 0.433000 8 91 0 0 0.004482 0 0 NBPF10 100132406 broad.mit.edu 37 1 145304540 145304540 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:145304540C>T ENST00000342960.5 + 10 1508 c.1473C>T c.(1471-1473)tcC>tcT p.S491S RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.S220S|NBPF10_ENST00000369339.2_Silent_p.S220S NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 491 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTTATGACTCCAACCAGCCAC 0.458000 9 508 0 0 0.004482 0 0 CTSO 1519 broad.mit.edu 37 4 156864334 156864334 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:156864334G>A ENST00000433477.3 - 2 287 c.218C>T c.(217-219)tCc>tTc p.S73F NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 73 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) AAACAAATAGGAAAACTGATT 0.313000 5 141 0 0 0.001168 0 0 TAGAP 117289 broad.mit.edu 37 6 159457252 159457252 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:159457252C>T ENST00000367066.3 - 10 2134 c.1803G>A c.(1801-1803)caG>caA p.Q601Q TAGAP_ENST00000326965.6_Silent_p.Q423Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 601 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTGCCGGGCCCTGCATGGCCT 0.652000 4 50 0 0 0.009096 0 0 CTRC 11330 broad.mit.edu 37 1 15770006 15770006 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:15770006C>T ENST00000375949.4 + 5 475 c.449C>T c.(448-450)cCc>cTc p.P150L CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 150 Peptidase S1. proteolysis serine-type endopeptidase activity p.P150R(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTGCTCCCCAAGGACTAC 0.582000 7 159 0 0 0.001984 0 0 ZNF558 148156 broad.mit.edu 37 19 8922347 8922347 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:8922347G>A ENST00000601372.1 - 10 1530 c.819C>T c.(817-819)ttC>ttT p.F273F ZNF558_ENST00000301475.1_Silent_p.F273F|ZNF558_ENST00000444186.2_Silent_p.F202F Q96NG5 ZN558_HUMAN zinc finger protein 558 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 ACCTTGTGCTGAAAGCTTTTC 0.458000 5 98 0 0 0.000602 0 0 CHD4 1108 broad.mit.edu 37 12 6707587 6707587 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:6707587G>A ENST00000309577.6 - 11 1650 c.1487C>T c.(1486-1488)cCa>cTa p.P496L CHD4_ENST00000544040.1_Missense_Mutation_p.P489L|CHD4_ENST00000544484.1_Missense_Mutation_p.P493L|CHD4_ENST00000357008.2_Missense_Mutation_p.P496L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 496 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTTCAGAGCTGGACACTGAGA 0.502000 9 120 0 0 0.004482 0 0 NOD2 64127 broad.mit.edu 37 16 50759472 50759472 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:50759472G>A ENST00000300589.2 + 10 3060 c.2955G>A c.(2953-2955)ttG>ttA p.L985L NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 985 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|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 signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway 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) ATTCAAGTTTGAAAATCCTGA 0.463000 5 101 0 0 0.000602 0 0 HK2 3099 broad.mit.edu 37 2 75115073 75115073 + Missense_Mutation SNP C C T rs145465326 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:75115073C>T ENST00000290573.2 + 16 2863 c.2263C>T c.(2263-2265)Cgt>Tgt p.R755C HK2_ENST00000409174.1_Missense_Mutation_p.R727C NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 755 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TGAGATTGTCCGTAACATTCT 0.478000 5 112 0 0 0.001168 0 0 ATP11C 286410 broad.mit.edu 37 X 138820208 138820208 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:138820208C>T ENST00000370557.1 - 28 4173 c.3146G>A c.(3145-3147)aGa>aAa p.R1049K ATP11C_ENST00000361648.2_Missense_Mutation_p.R1055K|ATP11C_ENST00000359686.2_Missense_Mutation_p.R1055K|ATP11C_ENST00000370543.1_Missense_Mutation_p.R1055K|ATP11C_ENST00000327569.3_Missense_Mutation_p.R1055K|ATP11C_ENST00000460773.1_5'UTR Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 1055 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AAAATACATTCTCTGTTGCTT 0.343000 8 30 0 0 0.008291 0 0 FLNB 2317 broad.mit.edu 37 3 58084612 58084612 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:58084612C>T ENST00000357272.4 + 8 1487 c.1322C>T c.(1321-1323)cCc>cTc p.P441L FLNB_ENST00000493452.1_Missense_Mutation_p.P272L|FLNB_ENST00000490882.1_Missense_Mutation_p.P441L|FLNB_ENST00000358537.3_Missense_Mutation_p.P441L|FLNB_ENST00000295956.4_Missense_Mutation_p.P441L|FLNB_ENST00000429972.2_Missense_Mutation_p.P441L|FLNB_ENST00000419752.2_Missense_Mutation_p.P272L|FLNB_ENST00000348383.5_Missense_Mutation_p.P441L O75369 FLNB_HUMAN filamin B, beta 441 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCTAAGAGTCCCTTCGTTGTG 0.547000 5 86 0 0 0.000602 0 0 LAMA4 3910 broad.mit.edu 37 6 112522853 112522853 + Silent SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:112522853A>G ENST00000230538.7 - 5 856 c.459T>C c.(457-459)gtT>gtC p.V153V LAMA4_ENST00000522006.1_Silent_p.V153V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Silent_p.V153V|LAMA4_ENST00000389463.4_Silent_p.V153V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 153 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AAATGCACCGAACAGCTCCAT 0.363000 10 340 0 0 0.008291 0 0 BEST3 144453 broad.mit.edu 37 12 70049365 70049365 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:70049365G>A ENST00000330891.5 - 10 1555 c.1329C>T c.(1327-1329)ccC>ccT p.P443P BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.P337P|BEST3_ENST00000488961.1_Silent_p.P230P NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 443 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGGCCCTGGGGGGGTTTCTTG 0.592000 5 90 0 0 0.000602 0 0 PTCHD3 374308 broad.mit.edu 37 10 27703027 27703027 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:27703027C>T ENST00000438700.3 - 1 270 c.153G>A c.(151-153)ccG>ccA p.P51P NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 51 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CGGGGGATTTCGGGGGTGCCA 0.682000 6 108 0 0 0.001984 0 0 ARID1A 8289 broad.mit.edu 37 1 27058011 27058011 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:27058011C>T ENST00000324856.7 + 3 2090 c.1719C>T c.(1717-1719)ctC>ctT p.L573L ARID1A_ENST00000374152.2_Silent_p.L190L|ARID1A_ENST00000457599.2_Silent_p.L573L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 573 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCGACGCTCTCCCAGCAGG 0.632000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 170 0 0 0.001168 0 0 KMT2A 4297 broad.mit.edu 37 11 118376509 118376509 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:118376509C>T ENST00000534358.1 + 27 9925 c.9902C>T c.(9901-9903)cCg>cTg p.P3301L KMT2A_ENST00000389506.5_Missense_Mutation_p.P3298L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3260L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TATTTTGAACCGGCACCCCTG 0.473000 4 98 0 0 0.009096 0 0 OR2A2 442361 broad.mit.edu 37 7 143807056 143807056 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:143807056C>T ENST00000408979.2 + 1 450 c.381C>T c.(379-381)caC>caT p.H127H NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCATCTGCCACCCTTTCCAGT 0.473000 5 109 0 0 0.000602 0 0 ITGA8 8516 broad.mit.edu 37 10 15760852 15760852 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:15760852C>T ENST00000378076.3 - 2 609 c.256G>A c.(256-258)Gat>Aat p.D86N NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 86 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCCACGATATCGGGCTGGCTG 0.577000 4 79 0 0 0.009096 0 0 CC2D1A 54862 broad.mit.edu 37 19 14038819 14038819 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:14038819C>T ENST00000318003.7 + 23 2671 c.2430C>T c.(2428-2430)gaC>gaT p.D810D CC2D1A_ENST00000589606.1_Silent_p.D810D NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 810 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TGGTCATTGACCCTGTGCCGG 0.657000 5 117 0 0 0.000602 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791310 15791310 + Missense_Mutation SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:15791310A>G ENST00000550308.1 + 5 886 c.506A>G c.(505-507)aAg>aGg p.K169R CYP4F12_ENST00000324632.9_Missense_Mutation_p.K169R NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATCTTCAACAAGAGTGCAAAC 0.527000 5 50 0 0 0.000602 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458975 19458975 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:19458975G>A ENST00000542886.1 + 7 699 c.613G>A c.(613-615)Gaa>Aaa p.E205K SLC47A1_ENST00000457293.1_Silent_p.G237G|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000436810.2_Silent_p.G214G|SLC47A1_ENST00000270570.4_Silent_p.G237G|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Silent_p.G237G Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 0 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) ACATCCTCGGGAAAAAACTGC 0.507000 6 67 0 0 0.003080 0 0 LPA 4018 broad.mit.edu 37 6 161012037 161012037 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:161012037C>T ENST00000447678.1 - 24 3846 c.3726G>A c.(3724-3726)ctG>ctA p.L1242L LPA_ENST00000316300.5_Silent_p.L1242L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3750 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GACATTGTGTCAGGTTGCAGT 0.507000 5 46 0 0 0.000602 0 0 NLRP4 147945 broad.mit.edu 37 19 56369305 56369305 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:56369305C>T ENST00000301295.6 + 3 968 c.546C>T c.(544-546)ttC>ttT p.F182F NLRP4_ENST00000346986.5_Silent_p.F182F|NLRP4_ENST00000587891.1_Silent_p.F107F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 182 NACHT. ATP binding p.F182L(1) 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) GGGATAGGTTCCTGTACACGT 0.502000 9 123 0 0 0.006214 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703701 187703701 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:187703701G>A ENST00000295131.2 - 4 518 c.479C>T c.(478-480)cCt>cTt p.P160L NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 160 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AAAGGTGACAGGAAGCTTTTT 0.308000 7 152 0 0 0.001984 0 0 USP54 159195 broad.mit.edu 37 10 75289450 75289450 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:75289450G>A ENST00000339859.4 - 14 2148 c.2048C>T c.(2047-2049)tCa>tTa p.S683L USP54_ENST00000428547.1_Missense_Mutation_p.S533L|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.S683L|USP54_ENST00000319786.7_Missense_Mutation_p.S683L|USP54_ENST00000497106.1_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 683 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GTAGACATTTGAGCTCTCAGG 0.527000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 182 0 0 0.002450 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163851 150163851 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150163851G>A ENST00000307271.3 + 2 639 c.65G>A c.(64-66)gGa>gAa p.G22E NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 22 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGCCGCTCGGGAAAAAGTGCC 0.527000 4 49 0 0 0.009096 0 0 LAMB4 22798 broad.mit.edu 37 7 107748102 107748102 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:107748102C>T ENST00000388781.3 - 6 648 c.565G>A c.(565-567)Gat>Aat p.D189N LAMB4_ENST00000388780.3_Missense_Mutation_p.D189N|LAMB4_ENST00000205386.4_Missense_Mutation_p.D189N|LAMB4_ENST00000414450.2_Missense_Mutation_p.D189N NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 189 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGTTCAATATCCGAGTATTTG 0.363000 4 62 0 0 0.001168 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720635 140720635 + Silent SNP G G A rs142588721 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:140720635G>A ENST00000394576.2 + 1 2097 c.2097G>A c.(2095-2097)gcG>gcA p.A699A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGGCCGCGGTCTCCTGCG 0.657000 5 164 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152277136 152277136 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152277136C>T ENST00000368799.1 - 3 10261 c.10226G>A c.(10225-10227)cGa>cAa p.R3409Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3409 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGTCTTCGTCCAGTGCT 0.602000 Ichthyosis 8 214 0 0 0.006214 0 0 LUZP4 51213 broad.mit.edu 37 X 114541098 114541098 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:114541098G>A ENST00000371920.3 + 4 678 c.671G>A c.(670-672)aGa>aAa p.R224K LUZP4_ENST00000451986.2_Missense_Mutation_p.R142K NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 224 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CACTCAGAGAGATCTCATGGT 0.473000 6 59 0 0 0.001984 0 0 ZNF778 197320 broad.mit.edu 37 16 89289675 89289675 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:89289675G>A ENST00000433976.2 + 4 560 c.228G>A c.(226-228)gaG>gaA p.E76E ZNF778_ENST00000306502.6_Silent_p.E6E NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) AAAACTACGAGAACCTGGCCT 0.517000 4 116 0 0 0.000602 0 0 BRAF 673 broad.mit.edu 37 7 140494231 140494231 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:140494231G>A ENST00000288602.6 - 8 1077 c.1017C>T c.(1015-1017)tcC>tcT p.S339S NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 339 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GAATTGGAATGGATTTTGAAG 0.408000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 9 102 0 0 0.008291 0 0 MYH8 4626 broad.mit.edu 37 17 10323365 10323365 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10323365C>T ENST00000403437.2 - 3 274 c.180G>A c.(178-180)ggG>ggA p.G60G CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 60 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGGTTACTTTCCCTCCTTCTT 0.423000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 9 256 0 0 0.008291 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389542 19389542 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:19389542G>A ENST00000338883.4 - 23 3214 c.3215C>T c.(3214-3216)tCa>tTa p.S1072L MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.S507L|MAP3K15_ENST00000469203.2_Missense_Mutation_p.S904L NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1072 ATP binding|MAP kinase kinase kinase activity|metal ion binding p.S547*(1)|p.S1119*(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTTGAGCTTTGATATTGTGGT 0.527000 5 45 0 0 0.001168 0 0 KRT1 3848 broad.mit.edu 37 12 53070226 53070226 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:53070226G>A ENST00000252244.3 - 7 1366 c.1308C>T c.(1306-1308)gcC>gcT p.A436A NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 436 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CATCCTTGAGGGCATTCTCGC 0.542000 4 46 0 0 0.009096 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144916680 144916680 + Nonsense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:144916680G>A ENST00000529945.1 - 9 2603 c.2164C>T c.(2164-2166)Cag>Tag p.Q722* PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q696*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.Q722*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q696*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q559*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q625*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q559*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q559*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.Q346*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q559* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 559 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCAGCCACTGGAGGTTTTGA 0.438000 T PDGFRB MPD 7 601 0 0 0.001984 0 0 SNHG14 104472715 broad.mit.edu 37 15 25460692 25460692 + RNA SNP C C T rs56227008 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:25460692C>T ENST00000424208.1 + 0 2739 SNORD115-25_ENST00000362619.1_RNA NR_003305.1 TGGGTTAGGTCGATTATGAGA 0.527000 13 235 0 0 0.013537 0 0 APAF1 317 broad.mit.edu 37 12 99060130 99060130 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:99060130C>T ENST00000357310.1 + 9 1934 c.1357C>T c.(1357-1359)Ctt>Ttt p.L453F APAF1_ENST00000549007.1_Missense_Mutation_p.L453F|APAF1_ENST00000547045.1_Missense_Mutation_p.L453F|APAF1_ENST00000551964.1_Missense_Mutation_p.L453F|APAF1_ENST00000359972.2_Missense_Mutation_p.L442F|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.L453F|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.L442F NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 453 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TTGCAGCCAGCTTCAGGTACT 0.294000 5 67 0 0 0.001984 0 0 HHATL 57467 broad.mit.edu 37 3 42740367 42740367 + Missense_Mutation SNP C C T rs148287985 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:42740367C>T ENST00000441594.1 - 5 577 c.316G>A c.(316-318)Ggg>Agg p.G106R HHATL_ENST00000310417.5_Missense_Mutation_p.G106R NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 106 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) GCCAAGGCCCCGTACACAGCA 0.612000 4 72 0 0 0.001168 0 0 GBF1 8729 broad.mit.edu 37 10 104120832 104120832 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:104120832C>T ENST00000369983.3 + 13 1703 c.1443C>T c.(1441-1443)ttC>ttT p.F481F GBF1_ENST00000476019.1_3'UTR NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 481 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GAGTATGCTTCCTACTGTTTG 0.428000 8 108 0 0 0.004482 0 0 NLRP4 147945 broad.mit.edu 37 19 56370010 56370010 + Missense_Mutation SNP C C G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:56370010C>G ENST00000301295.6 + 3 1673 c.1251C>G c.(1249-1251)gaC>gaG p.D417E NLRP4_ENST00000346986.5_Missense_Mutation_p.D417E|NLRP4_ENST00000587891.1_Missense_Mutation_p.D342E NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 417 NACHT. ATP binding p.D417D(1) 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) TTTGTGAAGACGACCTCCGGA 0.587000 6 110 0 0 0.001984 0 0 ADGRG6 57211 broad.mit.edu 37 6 142711423 142711423 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:142711423G>A ENST00000230173.6 + 7 1727 c.1251G>A c.(1249-1251)gtG>gtA p.V417V GPR126_ENST00000296932.8_Silent_p.V389V|GPR126_ENST00000367608.2_Silent_p.V389V|GPR126_ENST00000367609.3_Silent_p.V417V NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 417 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TATCCGTAGTGATTCAGAACA 0.308000 5 78 0 0 0.001984 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684045 113684045 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:113684045G>A ENST00000295878.3 - 17 2914 c.2768C>T c.(2767-2769)tCa>tTa p.S923L NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 923 p.S923L(1) endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CCAAGTATCTGATTGCTGATA 0.428000 5 86 0 0 0.001168 0 0 CCR4 1233 broad.mit.edu 37 3 32995532 32995532 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:32995532C>T ENST00000330953.5 + 2 786 c.618C>T c.(616-618)atC>atT p.I206I NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 206 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 CCCTGGAAATCAACATTCTCG 0.453000 7 135 0 0 0.003080 0 0 INADL 10207 broad.mit.edu 37 1 62330222 62330222 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:62330222C>T ENST00000371158.2 + 20 2866 c.2752C>T c.(2752-2754)Cca>Tca p.P918S INADL_ENST00000316485.6_Missense_Mutation_p.P918S NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 918 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TGATAATGAACCATCCGAGTC 0.483000 4 95 0 0 0.009096 0 0 ENTPD2 954 broad.mit.edu 37 9 139945549 139945549 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:139945549C>T ENST00000355097.2 - 5 626 c.579G>A c.(577-579)cgG>cgA p.R193R ENTPD2_ENST00000312665.5_Silent_p.R193R NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 193 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GTGTCCCCTTCCGTGGCCGGA 0.677000 5 56 0 0 0.001984 0 0 REG4 83998 broad.mit.edu 37 1 120337285 120337285 + Missense_Mutation SNP C C T rs150927973 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:120337285C>T ENST00000354219.1 - 7 872 c.433G>A c.(433-435)Gaa>Aaa p.E145K REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Missense_Mutation_p.E145K NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 145 C-type lectin. extracellular region sugar binding p.E145K(2) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTGTTGCATTCGTTGCTGCTC 0.423000 26 416 0 0 0.007291 0 0 FLG 2312 broad.mit.edu 37 1 152276739 152276739 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152276739C>T ENST00000368799.1 - 3 10658 c.10623G>A c.(10621-10623)caG>caA p.Q3541Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3541 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCACTGTCCTGGCTAACAC 0.572000 Ichthyosis 6 241 0 0 0.004482 0 0 CHRNA3 1136 broad.mit.edu 37 15 78885499 78885499 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:78885499C>T ENST00000348639.3 - 6 1924 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q CHRNA5_ENST00000559554.1_3'UTR|CHRNA5_ENST00000299565.5_Silent_p.F437F NM_001166694.1 NP_001160166.1 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 0 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTTTCTTTTCGTTTCAATTG 0.318000 7 78 0 0 0.003080 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559584 46559584 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:46559584G>A ENST00000242848.4 - 10 1916 c.1568C>T c.(1567-1569)cCa>cTa p.P523L ZC3H13_ENST00000282007.3_Missense_Mutation_p.P523L Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 523 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GGATTCTTCTGGATATGTATC 0.463000 5 84 0 0 0.001168 0 0 PGA5 5222 broad.mit.edu 37 11 61015892 61015892 + Missense_Mutation SNP G G A rs147049038 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:61015892G>A ENST00000451616.2 + 1 299 c.196G>A c.(196-198)Gat>Aat p.D66N CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Splice_Site_p.D220_splice|PGA5_ENST00000312403.5_Splice_Site_p.D220_splice P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 220 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 TTTCCACAGCGATGACAAGAG 0.498000 10 373 0 0 0.010729 0 0 DNAH9 1770 broad.mit.edu 37 17 11687853 11687853 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:11687853C>T ENST00000262442.3 + 41 8126 c.8058C>T c.(8056-8058)ttC>ttT p.F2686F DNAH9_ENST00000454412.2_Silent_p.F2686F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2686 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCAACATTTTCCAGGTGAGTT 0.468000 4 122 0 0 0.001168 0 0 PRSS35 167681 broad.mit.edu 37 6 84234001 84234001 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:84234001G>A ENST00000536636.1 + 3 1186 c.841G>A c.(841-843)Gag>Aag p.E281K PRSS35_ENST00000369700.3_Missense_Mutation_p.E281K NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 281 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TGCTCTTCTGGAGCTGAAGCG 0.493000 4 57 0 0 0.009096 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605862 84605862 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:84605862G>A ENST00000344803.2 + 4 524 c.477G>A c.(475-477)ttG>ttA p.L159L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TGTCCCCTTTGGCTTCTTCGG 0.567000 5 48 0 0 0.001168 0 0 SELE 6401 broad.mit.edu 37 1 169697306 169697306 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:169697306C>T ENST00000333360.7 - 8 1311 c.1172G>A c.(1171-1173)gGg>gAg p.G391E C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.G391E|SELE_ENST00000367776.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.G391E|SELE_ENST00000367780.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 391 Sushi 4. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) ACAGCTGGACCCATAACGGAA 0.527000 4 107 0 0 0.009096 0 0 PMEL 6490 broad.mit.edu 37 12 56349077 56349077 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:56349077G>A ENST00000548747.1 - 10 2493 c.1831C>T c.(1831-1833)Ctt>Ttt p.L611F PMEL_ENST00000360714.4_Missense_Mutation_p.L618F|PMEL_ENST00000449260.2_Missense_Mutation_p.L618F|PMEL_ENST00000539511.1_Missense_Mutation_p.L525F|PMEL_ENST00000548493.1_Missense_Mutation_p.L611F|PMEL_ENST00000536427.1_Missense_Mutation_p.L576F|PMEL_ENST00000550464.1_Missense_Mutation_p.L525F|PMEL_ENST00000552882.1_Missense_Mutation_p.L611F|PMEL_ENST00000550447.1_Missense_Mutation_p.L240F P40967 PMEL_HUMAN premelanosome protein 611 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGAGATGCAAGGACCACAGCC 0.512000 6 148 0 0 0.004482 0 0 CFAP54 144535 broad.mit.edu 37 12 97158976 97158976 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:97158976C>T ENST00000524981.3 + 27 3614 c.3614C>T c.(3613-3615)tCg>tTg p.S1205L Q6ZTY8 CL063_HUMAN 1179 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CTTTTGTCTTCGTATACAGAT 0.289000 4 50 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9090172 9090172 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9090172G>A ENST00000397910.4 - 1 1846 c.1643C>T c.(1642-1644)cCc>cTc p.P548L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 548 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGCTGGGGGTCTCTCTGT 0.522000 4 62 0 0 0.000602 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075237 76075237 + RNA SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:76075237G>A ENST00000395215.3 + 0 877 AACACCTGAGGAAGGAGGTGG 0.547000 4 39 0 0 0.009096 0 0 ACE 1636 broad.mit.edu 37 17 61560517 61560517 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:61560517C>T ENST00000290866.4 + 9 1494 c.1470C>T c.(1468-1470)ttC>ttT p.F490F ACE_ENST00000584529.1_Intron|ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Silent_p.F490F NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 490 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCTACAACTTCGACTGGTGGT 0.617000 12 196 0 0 0.002450 0 0 ESRRG 2104 broad.mit.edu 37 1 216680424 216680424 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:216680424G>A ENST00000391890.3 - 9 1703 c.1186C>T c.(1186-1188)Cgt>Tgt p.R396C ESRRG_ENST00000361525.3_Missense_Mutation_p.R389C|ESRRG_ENST00000360012.3_Missense_Mutation_p.R389C|ESRRG_ENST00000366937.1_Missense_Mutation_p.R424C|ESRRG_ENST00000493603.1_Missense_Mutation_p.R389C|ESRRG_ENST00000463665.1_Missense_Mutation_p.R350C|ESRRG_ENST00000408911.3_Missense_Mutation_p.R412C|ESRRG_ENST00000361395.2_Missense_Mutation_p.R389C|ESRRG_ENST00000487276.1_Missense_Mutation_p.R389C|ESRRG_ENST00000359162.2_Missense_Mutation_p.R389C|ESRRG_ENST00000366938.2_Missense_Mutation_p.R389C|ESRRG_ENST00000493748.1_Missense_Mutation_p.R389C|ESRRG_ENST00000366940.2_Missense_Mutation_p.R389C NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 412 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCAGCTCGACGAGGGTCTTCC 0.512000 5 76 0 0 0.000602 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602330 234602330 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:234602330C>T ENST00000305139.6 + 1 819 c.680C>T c.(679-681)tCa>tTa p.S227L UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000480628.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) TGTCTGTTTTCAAAGTATGAA 0.393000 6 151 0 0 0.001168 0 0 CELA2A 63036 broad.mit.edu 37 1 15789236 15789236 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:15789236G>A ENST00000359621.4 + 4 261 c.236G>A c.(235-237)aGg>aAg p.R79K NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 AGCTCCTCCAGGACCTACCGC 0.617000 6 92 0 0 0.001984 0 0 CPOX 1371 broad.mit.edu 37 3 98304426 98304426 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:98304426G>A ENST00000264193.2 - 5 1249 c.1031C>T c.(1030-1032)tCt>tTt p.S344F NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 344 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CTTGGACGGAGAGTCAAGATC 0.483000 8 122 0 0 0.003080 0 0 EPPIN 57119 broad.mit.edu 37 20 44174424 44174424 + Missense_Mutation SNP G G T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:44174424G>T ENST00000336443.3 - 1 592 c.29C>A c.(28-30)aCc>aAc p.T10N EPPIN_ENST00000354280.4_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000409554.1_Intron|EPPIN_ENST00000555685.1_Intron epididymal peptidase inhibitor GGAAAGAGCGGTTTTACACCC 0.468000 5 65 0.00198382 0.0021672 0.001984 1 0 GRIN2A 2903 broad.mit.edu 37 16 9862744 9862744 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:9862744G>A ENST00000396573.2 - 13 2868 c.2559C>T c.(2557-2559)tgC>tgT p.C853C GRIN2A_ENST00000562109.1_Silent_p.C853C|GRIN2A_ENST00000404927.2_Silent_p.C853C|GRIN2A_ENST00000535259.1_Silent_p.C696C|GRIN2A_ENST00000330684.3_Silent_p.C853C|GRIN2A_ENST00000396575.2_Silent_p.C853C NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 853 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCGGTCGGAGCACACGCCCG 0.557000 6 114 0 0 0.001984 0 0 ABCC8 6833 broad.mit.edu 37 11 17485033 17485033 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:17485033G>A ENST00000302539.4 - 4 656 c.531C>T c.(529-531)atC>atT p.I177I ABCC8_ENST00000389817.3_Silent_p.I177I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 177 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCCCATAGAGGATCACCAGCA 0.597000 14 422 0 0 0.004990 0 0 EFHC1 114327 broad.mit.edu 37 6 52317573 52317573 + Missense_Mutation SNP C C T rs139197513 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:52317573C>T ENST00000371068.5 + 4 764 c.661C>T c.(661-663)Cgt>Tgt p.R221C EFHC1_ENST00000538167.1_Missense_Mutation_p.R202C|EFHC1_ENST00000433625.2_Missense_Mutation_p.R130C NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 221 R -> H (in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E). axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) ACAGCCTCTTCGTAAGTATGT 0.383000 6 88 0 0 0.001168 0 0 DNAH5 1767 broad.mit.edu 37 5 13793818 13793818 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:13793818C>T ENST00000265104.4 - 49 8134 c.8030G>A c.(8029-8031)cGa>cAa p.R2677Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2677 AAA 3 (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) CATCAGCTGTCGCACTATCTC 0.438000 Kartagener syndrome 5 84 0 0 0.000602 0 0 RFPL1 5988 broad.mit.edu 37 22 29835128 29835128 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:29835128G>A ENST00000354373.2 + 1 557 c.348G>A c.(346-348)atG>atA p.M116I RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 116 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TTCTGCAGATGAACCCAAGGA 0.517000 5 91 0 0 0.001168 0 0 UNC13A 23025 broad.mit.edu 37 19 17759387 17759387 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:17759387C>T ENST00000428389.2 - 17 1932 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K UNC13A_ENST00000552293.1_Missense_Mutation_p.E557K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E557K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E555K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E557K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E557K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 557 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 GTCCACACTTCGAAGTTGTGT 0.607000 4 65 0 0 0.001168 0 0 TRANK1 9881 broad.mit.edu 37 3 36898710 36898710 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:36898710C>T ENST00000429976.2 - 12 2618 c.2371G>A c.(2371-2373)Gag>Aag p.E791K TRANK1_ENST00000428977.2_Missense_Mutation_p.E241K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E241K O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 791 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CACTCGATCTCCCAGGTCATG 0.493000 12 249 0 0 0.013537 0 0 MUC16 94025 broad.mit.edu 37 19 9003659 9003659 + Silent SNP G G T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9003659G>T ENST00000397910.4 - 49 40184 c.39981C>A c.(39979-39981)ctC>ctA p.L13327L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13329 SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L12L(1)|p.L13327L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTAAAATTGAGGGTGAATG 0.473000 5 153 1.23904e-05 1.36504e-05 0.000602 1 0 PDE1C 5137 broad.mit.edu 37 7 31918640 31918640 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:31918640G>A ENST00000396184.3 - 5 598 c.394C>T c.(394-396)Cac>Tac p.H132Y PDE1C_ENST00000321453.7_Missense_Mutation_p.H132Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.H132Y|PDE1C_ENST00000396193.1_Missense_Mutation_p.H192Y|PDE1C_ENST00000396191.1_Missense_Mutation_p.H132Y NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 132 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding 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) TGCACTGCGTGAACGATGCTC 0.527000 6 98 0 0 0.001984 0 0 TIE1 7075 broad.mit.edu 37 1 43777469 43777469 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:43777469G>A ENST00000372476.3 + 10 1540 c.1461G>A c.(1459-1461)caG>caA p.Q487Q TIE1_ENST00000433781.2_Silent_p.Q132Q NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 487 Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACCGGCCCCAGGACAGTACCA 0.607000 5 80 0 0 0.001168 0 0 HIPK4 147746 broad.mit.edu 37 19 40895647 40895647 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:40895647C>T ENST00000291823.2 - 1 447 c.163G>A c.(163-165)Gag>Aag p.E55K NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 55 Protein kinase. 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) AGCTTCAGCTCGTTCTTGATG 0.592000 5 148 0 0 0.000602 0 0 KLK12 43849 broad.mit.edu 37 19 51534106 51534106 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:51534106G>A ENST00000250352.11 - 4 872 c.199C>T c.(199-201)Ccc>Tcc p.P67S CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.P177S|KLK12_ENST00000250351.4_Missense_Mutation_p.P177S|KLK12_ENST00000529888.1_Missense_Mutation_p.S90F|KLK12_ENST00000525263.1_Missense_Mutation_p.P177S Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 177 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) ATTCTCCCGGGATACACACCA 0.627000 7 154 0 0 0.006214 0 0 WDR47 22911 broad.mit.edu 37 1 109524385 109524385 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:109524385G>A ENST00000357672.3 - 12 2659 c.2284C>T c.(2284-2286)Cgt>Tgt p.R762C WDR47_ENST00000369962.3_Missense_Mutation_p.R790C|WDR47_ENST00000361054.3_Missense_Mutation_p.R762C|WDR47_ENST00000369965.4_Missense_Mutation_p.R791C|WDR47_ENST00000400794.3_Missense_Mutation_p.R798C O94967 WDR47_HUMAN WD repeat domain 47 790 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CCAACAACACGAACACAACTT 0.373000 8 253 0 0 0.004482 0 0 KLHL23 151230 broad.mit.edu 37 2 170592502 170592502 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:170592502G>A ENST00000392647.2 + 2 1222 c.978G>A c.(976-978)ggG>ggA p.G326G KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Silent_p.G326G NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 326 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 ATGTAACTGGGGGCTACAGGA 0.428000 4 146 0 0 0.009096 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964093 73964093 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:73964093G>A ENST00000373468.1 - 3 950 c.299C>T c.(298-300)tCc>tTc p.S100F KIAA2022_ENST00000055682.5_Missense_Mutation_p.S100F Q5QGS0 K2022_HUMAN KIAA2022 100 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGATGTGAGGGAGATGGCATT 0.512000 4 49 0 0 0.009096 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728897 15728897 + RNA SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:15728897C>T ENST00000441682.2 + 0 349 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGGGCCCCATCACTCCCATCA 0.582000 5 111 0 0 0.000602 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182874684 182874684 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:182874684C>T ENST00000367547.3 - 7 1519 c.1283G>A c.(1282-1284)gGa>gAa p.G428E SHCBP1L_ENST00000423786.1_Missense_Mutation_p.G309E|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 500 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TTGATATTCTCCTGGAAAAAT 0.353000 4 44 0 0 0.009096 0 0 MUC17 140453 broad.mit.edu 37 7 100685192 100685192 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100685192C>T ENST00000306151.4 + 3 10559 c.10495C>T c.(10495-10497)Cct>Tct p.P3499S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3499 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAATTCATCTCCTACAACTGC 0.517000 12 238 0 0 0.013537 0 0 SEMA5A 9037 broad.mit.edu 37 5 9044571 9044571 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:9044571G>A ENST00000382496.5 - 22 3684 c.3019C>T c.(3019-3021)Cac>Tac p.H1007Y CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1007 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GAGACGGGGTGGATGACAGTC 0.552000 4 90 0 0 0.000602 0 0 TNN 63923 broad.mit.edu 37 1 175113579 175113579 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:175113579G>A ENST00000239462.4 + 18 3765 c.3652G>A c.(3652-3654)Gat>Aat p.D1218N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1218 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGAGACAATGATATCGCACT 0.512000 5 89 0 0 0.001168 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465432 77465432 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:77465432C>T ENST00000282849.5 - 3 673 c.255G>A c.(253-255)agG>agA p.R85R ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 85 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATCGCTTTTTCCTGCCGTTGT 0.478000 6 287 0 0 0.001984 0 0 LTF 4057 broad.mit.edu 37 3 46479551 46479551 + Missense_Mutation SNP G G A rs148227142 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:46479551G>A ENST00000231751.4 - 16 2273 c.1978C>T c.(1978-1980)Ctt>Ttt p.L660F LTF_ENST00000417439.1_Missense_Mutation_p.L658F|LTF_ENST00000426532.2_Missense_Mutation_p.L616F|LTF_ENST00000493056.1_5'UTR NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 660 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TTGAACAGAAGGTTTTTGGTT 0.433000 10 165 0 0 0.010729 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122071 43122071 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:43122071C>T ENST00000344697.2 - 2 1198 c.853G>A c.(853-855)Ggc>Agc p.G285S GTDC2_ENST00000441964.1_Missense_Mutation_p.G285S NM_032806.4 NP_116195.2 TACTCCTCGCCTAGGGGGACT 0.557000 4 78 0 0 0.009096 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892287 2892287 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:2892287G>A ENST00000254528.3 + 4 2321 c.2162G>A c.(2161-2163)gGa>gAa p.G721E NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 721 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.G721E(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TCTATCTCAGGAAATCTTCAG 0.542000 4 90 0 0 0.009096 0 0 SHANK3 85358 broad.mit.edu 37 22 51159572 51159572 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:51159572C>T ENST00000414786.2 + 21 3496 c.3269C>T c.(3268-3270)cCc>cTc p.P1090L SHANK3_ENST00000445220.2_Missense_Mutation_p.P1106L|SHANK3_ENST00000262795.3_Missense_Mutation_p.P1120L F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1120 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCCCTGGACCCCAGCTCACCC 0.726000 4 11 0 0 0.000602 0 0 KCNA10 3744 broad.mit.edu 37 1 111059896 111059896 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:111059896G>A ENST00000369771.2 - 1 1901 c.1514C>T c.(1513-1515)tCc>tTc p.S505F NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 505 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CTTCTCTGTGGAACAGCCACC 0.478000 6 92 0 0 0.003080 0 0 CPB1 1360 broad.mit.edu 37 3 148563342 148563342 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:148563342C>T ENST00000491148.1 + 10 1244 c.910C>T c.(910-912)Cac>Tac p.H304Y CPB1_ENST00000282957.4_Missense_Mutation_p.H304Y P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 304 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TCTGACAATCCACTCGTACTC 0.448000 7 70 0 0 0.001984 0 0 ABCC6 368 broad.mit.edu 37 16 16284039 16284039 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:16284039G>A ENST00000205557.7 - 12 1646 c.1617C>T c.(1615-1617)ttC>ttT p.F539F ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 539 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TAGACACTTGGAAGGACACCA 0.632000 4 87 0 0 0.009096 0 0 UBXN11 91544 broad.mit.edu 37 1 26608878 26608883 + In_Frame_Del DEL CCGGGA CCGGGA - rs1134580 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:26608878_26608883delCCGGGA ENST00000314675.7 - 11 1189_1194 c.1110_1115delTCCCGG c.(1108-1116)ggc>gg p.GPG370del UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 490 cytoplasm|cytoskeleton p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gggactggggccgggaccgggaccgg 0.718 7 38 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 10 10 --- --- --- ---