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 PLCG2 5336 broad.mit.edu 37 16 81934384 81934384 + Splice_Site SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:81934384A>T ENST00000359376.3 + 14 1575 c.1362_splice c.e14+1 p.K454_splice NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 454 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 ATCATCATCAAGGTAGGCACC 0.622000 14 26 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565249 58565249 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:58565249C>A ENST00000282326.1 + 6 1304 c.1057C>A c.(1057-1059)Cgg>Agg p.R353R NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 353 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GAAAGCCCCCCGGAGCAAGGG 0.662000 18 53 4.96729e-08 5.58333e-08 1 1 0 UBASH3A 53347 broad.mit.edu 37 21 43862660 43862660 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:43862660C>A ENST00000319294.6 + 12 1616 c.1585C>A c.(1585-1587)Ctg>Atg p.L529M UBASH3A_ENST00000398367.1_Missense_Mutation_p.L491M|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L491M NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 529 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CCTCATGAGCCTGGAAGAGCT 0.423000 45 109 8.00217e-19 1.04937e-18 1 1 0 POLE 5426 broad.mit.edu 37 12 133233726 133233726 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:133233726C>G ENST00000320574.5 - 29 3621 c.3578G>C c.(3577-3579)aGa>aCa p.R1193T POLE_ENST00000535270.1_Missense_Mutation_p.R1166T NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1193 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CGTCACCTGTCTCCTGCCCTC 0.567000 DNA polymerases (catalytic subunits) 26 68 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486429 94486429 + Missense_Mutation SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:94486429T>G ENST00000375708.3 - 9 2545 c.2347A>C c.(2347-2349)Aac>Cac p.N783H ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 783 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TAGCGGGCGTTGCTCACATTG 0.657000 32 77 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100801282 100801282 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:100801282C>A ENST00000355338.2 - 11 1964 c.1346G>T c.(1345-1347)cGc>cTc p.R449L WARS_ENST00000344102.5_Missense_Mutation_p.R408L|WARS_ENST00000556645.1_Missense_Mutation_p.R408L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.R449L|WARS_ENST00000392882.2_Missense_Mutation_p.R449L|WARS_ENST00000358655.4_Missense_Mutation_p.R408L NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 449 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) GACCTCCTTGCGCCGGGCCTG 0.532000 29 60 8.88839e-20 1.17419e-19 1 1 0 MFAP1 4236 broad.mit.edu 37 15 44106842 44106842 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:44106842C>A ENST00000267812.3 - 4 706 c.474G>T c.(472-474)gaG>gaT p.E158D NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 158 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) CATTTTTTCTCTCCTGTGCTC 0.463000 22 83 1.50039e-11 1.79946e-11 1 1 0 PAX9 5083 broad.mit.edu 37 14 37145590 37145590 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:37145590C>T ENST00000361487.6 + 4 1184 c.959C>T c.(958-960)tCg>tTg p.S320L PAX9_ENST00000402703.2_Missense_Mutation_p.S320L|PAX9_ENST00000554201.1_3'UTR P55771 PAX9_HUMAN paired box 9 320 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) ATTCCGGCATCGCTGGCGTTC 0.567000 47 130 0 0 1 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775538 27775538 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:27775538G>A ENST00000377401.2 - 1 171 c.147C>T c.(145-147)gtC>gtT p.V49V NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 49 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TGTCGGGGTGGACCTGCTTCA 0.592000 35 425 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33459940 33459940 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:33459940G>A ENST00000265112.3 + 11 1535 c.1224G>A c.(1222-1224)ctG>ctA p.L408L TARS_ENST00000502553.1_Silent_p.L408L|TARS_ENST00000541634.1_Silent_p.L304L|TARS_ENST00000414361.2_Silent_p.L287L|TARS_ENST00000455217.2_Silent_p.L441L NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 408 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TGTTTGCCCTGAAACCCATGA 0.488000 10 180 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961487 51961487 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:51961487G>T ENST00000321424.3 - 1 221 c.155C>A c.(154-156)cCc>cAc p.P52H SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P52H|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P52H NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 52 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCCATCCTGGGGGTAGGAGAA 0.582000 33 85 5.91797e-21 7.92012e-21 1 1 0 COL19A1 1310 broad.mit.edu 37 6 70744142 70744142 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:70744142G>C ENST00000322773.4 + 13 1188 c.1086G>C c.(1084-1086)ttG>ttC p.L362F NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 362 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TACAGGGTTTGAAAGGTGACT 0.378000 11 35 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107720 14107720 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:14107720C>G ENST00000235372.7 + 8 4286 c.3430C>G c.(3430-3432)Ctt>Gtt p.L1144V PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L943V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L943V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1144V NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1144 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ATCACCTTTTCTTTCCATTAA 0.388000 49 85 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100341786 100341786 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:100341786G>T ENST00000437033.2 - 6 1232 c.729C>A c.(727-729)ccC>ccA p.P243P ADH7_ENST00000209665.4_Silent_p.P255P|ADH7_ENST00000476959.1_Silent_p.P263P|ADH7_ENST00000482593.1_Silent_p.P186P P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 255 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity p.P263P(1)|p.P255P(1) breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TAGAGTCCTTGGGACTGATAC 0.468000 25 87 2.48779e-11 2.97372e-11 1 1 0 ZNF681 148213 broad.mit.edu 37 19 23927995 23927995 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:23927995C>G ENST00000402377.3 - 4 498 c.357G>C c.(355-357)gaG>gaC p.E119D ZNF681_ENST00000395385.3_Missense_Mutation_p.E50D NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GCACTTTGCACTCATCCACAC 0.328000 8 44 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133636484 133636484 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:133636484C>G ENST00000409261.1 - 9 958 c.585G>C c.(583-585)gaG>gaC p.E195D NCKAP5_ENST00000317721.6_Missense_Mutation_p.E195D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E195D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E195D NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 195 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ACGCTGAATTCTCTGCCTGCA 0.393000 7 36 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6093212 6093212 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:6093212C>A ENST00000217289.4 - 4 1232 c.444G>T c.(442-444)aaG>aaT p.K148N FERMT1_ENST00000536936.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 148 FERM.|Poly-Lys. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TTTTCTTCTTCTTCTTAAAAT 0.303000 43 54 9.14704e-12 1.10443e-11 1 1 0 NADK2 133686 broad.mit.edu 37 5 36225700 36225700 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:36225700C>A ENST00000397338.1 - 4 236 c.15G>T c.(13-15)gcG>gcT p.A5A NADK2_ENST00000381937.4_Silent_p.A168A|NADK2_ENST00000282512.3_Silent_p.A5A|NADK2_ENST00000514504.1_Silent_p.A168A|NADK2_ENST00000506945.1_Silent_p.A5A NAD kinase 2, mitochondrial AGACTTTACTCGCTGCCAGCA 0.368000 4 134 0.184627 0.185926 1 1 0 PTK2B 2185 broad.mit.edu 37 8 27308291 27308291 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:27308291G>T ENST00000397501.1 + 30 3174 c.2366G>T c.(2365-2367)aGc>aTc p.S789I PTK2B_ENST00000544172.1_Missense_Mutation_p.S789I|PTK2B_ENST00000338238.4_Missense_Mutation_p.S747I|PTK2B_ENST00000397497.4_Missense_Mutation_p.S493I|PTK2B_ENST00000346049.5_Missense_Mutation_p.S789I|PTK2B_ENST00000517339.1_Missense_Mutation_p.S747I|PTK2B_ENST00000420218.2_Missense_Mutation_p.S747I NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 789 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CAACCCAGCAGCCGAGAAGAG 0.577000 17 36 1.15088e-07 1.28754e-07 1 1 0 KAT5 10524 broad.mit.edu 37 11 65480860 65480860 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:65480860G>A ENST00000341318.4 + 4 660 c.426G>A c.(424-426)ccG>ccA p.P142P KAT5_ENST00000377046.3_Silent_p.P109P|KAT5_ENST00000352980.4_Intron|KAT5_ENST00000534650.1_Intron|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000530446.1_Intron NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 109 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 TGCCAATCCCGGTCCAGATCA 0.667000 4 105 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846775 47846775 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:47846775T>C ENST00000339488.4 - 3 1838 c.1805A>G c.(1804-1806)aAt>aGt p.N602S NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 602 integral to membrane hedgehog receptor activity AGCAATGATATTGCTTTCATC 0.438000 50 86 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101826406 101826406 + RNA SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:101826406G>A ENST00000360035.2 + 0 3400 NR_002216.1 endometrium(2)|lung(8) 10 GGAGCCCTTCGATGTCTTCTT 0.512000 3 15 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16278976 16278976 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:16278976G>A ENST00000269878.4 - 4 367 c.318C>T c.(316-318)ctC>ctT p.L106L CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Silent_p.L57L NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 106 EF-hand 2. calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 AGTAAGCCTTGAGGTCGCGGG 0.552000 12 8 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135735 55135735 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:55135735A>G ENST00000314706.3 + 1 376 c.376A>G c.(376-378)Atg>Gtg p.M126V NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TCAGGGTTGTATGGCTCAACT 0.393000 136 73 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136112511 136112511 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:136112511C>T ENST00000298110.1 - 1 1322 c.1323G>A c.(1321-1323)tgG>tgA p.W441* NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 441 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) GGAAGAAAAGCCAGATGATTA 0.507000 12 53 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090247 238090247 + RNA SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:238090247G>T ENST00000450451.1 + 0 1753 NR_027247.2 GGCACCCCCGGCACAAGAGCA 0.602000 11 35 9.70103e-10 1.14055e-09 1 1 0 KRT6C 286887 broad.mit.edu 37 12 52865456 52865456 + Splice_Site SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:52865456C>A ENST00000252250.6 - 3 863 c.816_splice c.e3+1 p.K272_splice NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 272 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) ATCTGCTCACCTTCTTCAGAG 0.483000 25 132 8.24728e-16 1.03962e-15 1 1 0 CPA6 57094 broad.mit.edu 37 8 68346418 68346418 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:68346418G>C ENST00000297770.4 - 9 1111 c.896C>G c.(895-897)tCt>tGt p.S299C CPA6_ENST00000297769.4_Intron NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 299 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTCCGGCTCAGATTCTGGAAA 0.453000 14 51 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140777280 140777280 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:140777280G>T ENST00000371372.1 + 3 620 c.475G>T c.(475-477)Ggc>Tgc p.G159C CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G159C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G159C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G159C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G159C|RP11-188C12.3_ENST00000371390.1_RNA NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 159 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTTCCACAAGGGCTCTTACCT 0.592000 85 369 3.71514e-35 5.36298e-35 1 1 0 RNF17 56163 broad.mit.edu 37 13 25362140 25362140 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:25362140G>T ENST00000255324.5 + 7 678 c.626G>T c.(625-627)tGt>tTt p.C209F RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.C209F|RNF17_ENST00000255325.5_Missense_Mutation_p.C210F NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 209 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAGAACCTGTGTGAAGAATTT 0.269000 21 35 9.95505e-16 1.25269e-15 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 108 0 0 1 0 0 EIF6 3692 broad.mit.edu 37 20 33867762 33867762 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:33867762G>C ENST00000374450.3 - 5 793 c.529C>G c.(529-531)Ctt>Gtt p.L177V RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.L177V|EIF6_ENST00000374443.3_Missense_Mutation_p.L158V NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 177 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) GGGACTTGAAGAAGAGAGGAC 0.532000 135 241 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105420369 105420369 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:105420369C>T ENST00000258494.9 - 22 2810 c.2670G>A c.(2668-2670)gcG>gcA p.A890A C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 890 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 CAAATGGGGCCGCCACATCTG 0.398000 37 126 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457080 20457080 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:20457080G>T ENST00000426804.1 - 1 4706 c.4222C>A c.(4222-4224)Caa>Aaa p.Q1408K NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GCTTGTCCTTGCCTGCTGTGG 0.607000 12 27 2.27111e-07 2.52502e-07 1 1 0 PANK2 80025 broad.mit.edu 37 20 3891395 3891395 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:3891395C>T ENST00000497424.1 + 3 591 c.280C>T c.(280-282)Ctg>Ttg p.L94L PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Silent_p.L385L NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 385 R -> P. cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCCGTATCCTCTGCTTCTGGT 0.393000 27 104 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648391 130648391 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:130648391G>C ENST00000539839.1 + 1 1388 c.806G>C c.(805-807)gGa>gCa p.G269A FZD10_ENST00000229030.4_Missense_Mutation_p.E302Q NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 175 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TGTCATCCAGGAGGGACTGGA 0.647000 31 90 0 0 1 0 0 HPCAL4 51440 broad.mit.edu 37 1 40148381 40148381 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:40148381C>T ENST00000372844.3 - 4 794 c.403G>A c.(403-405)Gtg>Atg p.V135M NM_016257.2 NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 135 central nervous system development intracellular calcium ion binding breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ATCATGATCACGGTGCCCACC 0.562000 17 98 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73537565 73537565 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:73537565G>T ENST00000224721.6 + 38 4994 c.4989G>T c.(4987-4989)caG>caT p.Q1663H NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1658 Cadherin 16. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCACCATCCAGGCACTGGACC 0.577000 16 20 1.62849e-17 2.10469e-17 1 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 4 97 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160137240 160137240 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:160137240C>T ENST00000357388.3 + 12 2217 c.1766C>T c.(1765-1767)tCa>tTa p.S589L RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.S564L|SMC4_ENST00000344722.5_Missense_Mutation_p.S589L|SMC4_ENST00000462787.1_Missense_Mutation_p.S589L|SMC4_ENST00000360111.2_Missense_Mutation_p.S589L NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 589 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GCAAAGAGCTCATTAGCAATG 0.323000 23 43 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39390680 39390680 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:39390680G>T ENST00000572515.1 + 1 89 c.8G>T c.(7-9)gGg>gTg p.G3V NFKBIB_ENST00000313582.5_Missense_Mutation_p.G3V|NFKBIB_ENST00000392079.3_5'UTR Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 3 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCATGGCTGGGGTCGCGTGC 0.716000 OREG0032100 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 6 5 0.217242 0.218156 1 1 0 BBX 56987 broad.mit.edu 37 3 107492238 107492238 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:107492238G>T ENST00000415149.2 + 11 1997 c.1670G>T c.(1669-1671)aGt>aTt p.S557I BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.S557I|BBX_ENST00000402543.1_Missense_Mutation_p.S557I|BBX_ENST00000406780.1_Missense_Mutation_p.S557I NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GATTTCATTAGTATTTCTGCT 0.433000 11 65 3.86212e-05 4.12113e-05 1 1 0 OR10S1 219873 broad.mit.edu 37 11 123847694 123847694 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:123847694G>A ENST00000531945.1 - 1 794 c.705C>T c.(703-705)atC>atT p.I235I NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CAGCTGCCACGATGAAGATGT 0.592000 22 94 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47189537 47189537 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:47189537G>C ENST00000337137.4 + 3 425 c.259G>C c.(259-261)Gag>Cag p.E87Q TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.E40Q|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.E40Q|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.E68Q|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.E87Q NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 87 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) CATGGCGGCGGAGAGCCTGAA 0.662000 20 41 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455151 187455151 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:187455151T>C ENST00000307161.5 - 2 946 c.745A>G c.(745-747)Att>Gtt p.I249V RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 249 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GCCCAGCAAATGGCAAAAAGG 0.527000 43 72 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005130 25005130 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:25005130G>A ENST00000382114.4 - 8 1766 c.1581C>T c.(1579-1581)tcC>tcT p.S527S NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 527 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CTTTGAAACTGGATGCAAAAA 0.393000 3 47 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383254 22383254 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:22383254C>T ENST00000328795.4 + 1 873 c.782C>T c.(781-783)cCt>cTt p.P261L RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P261H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TACATGTGCCCTTTCAGGGCC 0.448000 75 150 0 0 1 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39387593 39387593 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:39387593G>T ENST00000402182.3 + 6 1035 c.980G>T c.(979-981)cGg>cTg p.R327L APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R302L|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R327L Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 327 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) CAAATGCTGCGGGATGCTGGG 0.572000 13 106 3.27435e-08 3.72133e-08 1 1 0 HYAL2 8692 broad.mit.edu 37 3 50357383 50357383 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:50357383C>G ENST00000447092.1 - 1 2830 c.538G>C c.(538-540)Gag>Cag p.E180Q HYAL2_ENST00000357750.4_Missense_Mutation_p.E180Q|HYAL2_ENST00000442581.1_Missense_Mutation_p.E180Q|HYAL2_ENST00000395139.3_Missense_Mutation_p.E180Q Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 180 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) GCTGCGAACTCAAACTCATAT 0.552000 27 138 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52329857 52329857 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:52329857A>G ENST00000371068.5 + 6 1184 c.1081A>G c.(1081-1083)Atc>Gtc p.I361V EFHC1_ENST00000538167.1_Missense_Mutation_p.I342V|EFHC1_ENST00000433625.2_Missense_Mutation_p.I270V NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 361 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) GAAGTTTGGAATCACTGATTT 0.383000 17 60 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102548 66102548 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:66102548C>A ENST00000349533.6 + 20 3533 c.3348C>A c.(3346-3348)ctC>ctA p.L1116L LEPR_ENST00000406510.3_Silent_p.L183L NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1116 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TCAGAGTTCTCCAGGACAGTT 0.418000 35 36 1.90571e-15 2.37716e-15 1 1 0 KCNT1 57582 broad.mit.edu 37 9 138650351 138650351 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:138650351C>A ENST00000298480.5 + 10 925 c.851C>A c.(850-852)aCg>aAg p.T284K KCNT1_ENST00000487664.1_Missense_Mutation_p.T236K|KCNT1_ENST00000491806.2_Missense_Mutation_p.T251K|KCNT1_ENST00000263604.3_Missense_Mutation_p.T265K|KCNT1_ENST00000488444.2_Missense_Mutation_p.T265K|KCNT1_ENST00000486577.2_Missense_Mutation_p.T245K|KCNT1_ENST00000371757.2_Missense_Mutation_p.T284K|KCNT1_ENST00000490355.2_Missense_Mutation_p.T265K B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 284 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CTCGTTTTCACGGGGTGAGTG 0.617000 60 80 3.00063e-23 4.1158e-23 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13820573 13820573 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:13820573C>A ENST00000265104.4 - 41 6827 c.6723G>T c.(6721-6723)tgG>tgT p.W2241C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2241 AAA 2 (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) CCTTCAGTTTCCAAGGAGGAT 0.517000 Kartagener syndrome 63 42 1.80625e-27 2.53088e-27 1 1 0 AIM2 9447 broad.mit.edu 37 1 159035974 159035974 + Missense_Mutation SNP A A C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:159035974A>C ENST00000368130.4 - 4 830 c.542T>G c.(541-543)gTg>gGg p.V181G AIM2_ENST00000481829.1_Intron NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 181 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TTCTGTAGCCACTGTAGCATG 0.378000 11 155 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159043 154159043 + Missense_Mutation SNP C C A rs80201919 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:154159043C>A ENST00000360256.4 - 14 3222 c.3022G>T c.(3022-3024)Gcc>Tcc p.A1008S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1008 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGAATAAGGCATTATCTTTA 0.348000 22 26 2.89027e-11 3.44905e-11 1 1 0 TOM1 10043 broad.mit.edu 37 22 35723360 35723360 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:35723360G>T ENST00000382034.5 + 8 886 c.544G>T c.(544-546)Gca>Tca p.A182S TOM1_ENST00000436462.2_Missense_Mutation_p.A211S|TOM1_ENST00000425375.1_Missense_Mutation_p.A204S|TOM1_ENST00000449058.2_Missense_Mutation_p.A249S|TOM1_ENST00000411850.1_Missense_Mutation_p.A249S|TOM1_ENST00000447733.1_Missense_Mutation_p.A216S O60784 TOM1_HUMAN target of myb1 (chicken) 249 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 GGCCGAGCCCGCAGACCTGGA 0.622000 20 30 1.56452e-12 1.9116e-12 1 1 0 TENM4 26011 broad.mit.edu 37 11 78419498 78419498 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:78419498C>G ENST00000278550.7 - 27 4579 c.4117G>C c.(4117-4119)Gat>Cat p.D1373H NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CCATTCTGATCGATGCGTCTG 0.512000 16 59 0 0 1 0 0 DDA1 79016 broad.mit.edu 37 19 17424908 17424908 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:17424908C>G ENST00000359866.4 + 2 204 c.80C>G c.(79-81)gCc>gGc p.A27G NM_024050.5 NP_076955.1 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 27 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 GTGTGCAAAGCCTCGGTGAGT 0.532000 11 107 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38964174 38964174 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:38964174C>A ENST00000355481.4 + 28 4054 c.3923C>A c.(3922-3924)cCg>cAg p.P1308Q RYR1_ENST00000360985.3_Missense_Mutation_p.P1308Q|RYR1_ENST00000359596.3_Missense_Mutation_p.P1308Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1308 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGGCCACCCCGCTGGCACCT 0.701000 14 16 4.3838e-07 4.86636e-07 1 1 0 OR51Q1 390061 broad.mit.edu 37 11 5443584 5443584 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:5443584C>T ENST00000300778.4 + 1 244 c.154C>T c.(154-156)Cgc>Tgc p.R52C HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTGTCATTCGCACAGAGCC 0.562000 59 110 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16504337 16504337 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:16504337G>T ENST00000304523.5 - 8 1374 c.1051C>A c.(1051-1053)Ccg>Acg p.P351T LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.P349T|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_3'UTR NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 351 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 CTGTTCCACGGGCTGTTGTTC 0.517000 60 209 3.28156e-27 4.58905e-27 1 1 0 ARAP2 116984 broad.mit.edu 37 4 36230664 36230664 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:36230664G>C ENST00000303965.4 - 2 934 c.445C>G c.(445-447)Cct>Gct p.P149A NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 149 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCGCGTTTAGGAGGAGACAGC 0.408000 24 44 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038927 11038927 + RNA SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:11038927C>A ENST00000470054.1 - 0 1276 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACACATCTGCCTTGCTTATGT 0.428000 13 489 9.16793e-09 1.05875e-08 1 1 0 OR10A3 26496 broad.mit.edu 37 11 7960287 7960287 + Nonsense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:7960287G>A ENST00000360759.3 - 1 854 c.781C>T c.(781-783)Caa>Taa p.Q261* NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATTTGGGTTGTAAATAAGTC 0.468000 14 44 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6138218 6138218 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:6138218C>A ENST00000400104.3 - 14 1374 c.1174G>T c.(1174-1176)Ggt>Tgt p.G392C L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G392C|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.G392C|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.G205C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G392C Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 392 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TAACGTGGACCACGGATATGG 0.453000 7 17 0.0381472 0.0387975 1 1 0 MCM3AP 8888 broad.mit.edu 37 21 47684047 47684047 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:47684047C>T ENST00000397708.1 - 14 3573 c.3319G>A c.(3319-3321)Gca>Aca p.A1107T MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1107T O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1107 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GCGGCAGCTGCGTAGGCAGCA 0.637000 12 39 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57796224 57796224 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:57796224G>A ENST00000309042.7 + 4 1514 c.1200G>A c.(1198-1200)aaG>aaA p.K400K NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 400 Lys-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CAGCTTCCAAGAAGTGTAATC 0.368000 46 110 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75893301 75893301 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:75893301G>C ENST00000274364.6 + 10 1242 c.945G>C c.(943-945)ccG>ccC p.P315P IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 315 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CTGTCATTCCGGAAGGTGACC 0.522000 17 34 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24505293 24505293 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:24505293G>T ENST00000264463.4 - 8 1828 c.1321C>A c.(1321-1323)Ctt>Att p.L441I NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 441 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GATGTATAAAGAGATCCATTT 0.363000 HNSCC(23;0.051) 14 91 1.49906e-05 1.60918e-05 1 1 0 FIBCD1 84929 broad.mit.edu 37 9 133780697 133780697 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:133780697G>T ENST00000372338.4 - 6 1292 c.1050C>A c.(1048-1050)ttC>ttA p.F350L FIBCD1_ENST00000448616.1_Missense_Mutation_p.F350L|FIBCD1_ENST00000372337.2_Missense_Mutation_p.F192L|FIBCD1_ENST00000253018.4_Intron NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 350 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) AGCCCACGCCGAAGCTCCCGT 0.632000 6 53 0.00116845 0.00120897 1 1 0 TPO 7173 broad.mit.edu 37 2 1481040 1481040 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:1481040G>T ENST00000345913.4 + 8 1093 c.1002G>T c.(1000-1002)ccG>ccT p.P334P TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Silent_p.P334P|TPO_ENST00000346956.3_Silent_p.P334P|TPO_ENST00000337415.3_Silent_p.P334P|TPO_ENST00000329066.4_Silent_p.P334P|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 334 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCAGCTCCCCGGCCCTAGAGA 0.692000 8 9 0.000274275 0.000288371 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21750193 21750193 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:21750193G>T ENST00000328843.6 + 42 6758 c.6727G>T c.(6727-6729)Ggt>Tgt p.G2243C DNAH11_ENST00000409508.3_Missense_Mutation_p.G2236C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2243 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTATTTTATAGGTCTCTTCTC 0.343000 Kartagener syndrome 15 14 1.15088e-07 1.28754e-07 1 1 0 MATR3 9782 broad.mit.edu 37 5 138651794 138651794 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:138651794C>T ENST00000394800.2 + 9 1595 c.1046C>T c.(1045-1047)aCa>aTa p.T349I MATR3_ENST00000510056.1_Missense_Mutation_p.T349I|MATR3_ENST00000504203.1_Missense_Mutation_p.T11I|MATR3_ENST00000503811.1_Missense_Mutation_p.T61I|MATR3_ENST00000502929.1_Missense_Mutation_p.T349I|MATR3_ENST00000502499.1_Missense_Mutation_p.T11I|MATR3_ENST00000394805.3_Missense_Mutation_p.T349I|MATR3_ENST00000361059.2_Missense_Mutation_p.T349I|MATR3_ENST00000509990.1_Missense_Mutation_p.T349I P43243 MATR3_HUMAN matrin 3 349 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAGCAGTCTACAAATCCAGCA 0.388000 46 49 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132285746 132285746 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:132285746T>C ENST00000295171.6 + 1 341 c.203T>C c.(202-204)cTg>cCg p.L68P CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.L68P NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 68 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TCGGAGATGCTGGCCAAGCTC 0.647000 7 35 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5961254 5961254 + Missense_Mutation SNP C C T rs115887613 by1000genomes TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:5961254C>T ENST00000531445.1 - 7 2147 c.2101G>A c.(2101-2103)Gga>Aga p.G701R C4orf50_ENST00000324058.5_Missense_Mutation_p.G227R Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 227 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CAGGGCATTCCGCCTTTTTCT 0.582000 29 66 0 0 1 0 0 SIKE1 80143 broad.mit.edu 37 1 115323061 115323061 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:115323061C>T ENST00000369528.5 - 1 245 c.168G>A c.(166-168)caG>caA p.Q56Q SIKE1_ENST00000060969.5_Intron|SIKE1_ENST00000506320.1_Intron NM_001102396.1|NM_025073.2 NP_001095866.1|NP_079349.2 Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 53 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 CTCCTACCCTCTGCCTGACCT 0.652000 23 139 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43307518 43307518 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:43307518G>C ENST00000361428.2 - 10 4295 c.4218C>G c.(4216-4218)atC>atG p.I1406M ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1406 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ATGCTTTGGAGATGATGTCTG 0.443000 15 86 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192255115 192255115 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:192255115G>T ENST00000392318.3 + 18 2126 c.1879G>T c.(1879-1881)Gtg>Ttg p.V627L MYO1B_ENST00000392316.1_Missense_Mutation_p.V627L|MYO1B_ENST00000339514.4_Missense_Mutation_p.V627L|MYO1B_ENST00000304164.4_Missense_Mutation_p.V627L NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 627 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GAACGTCCGAGTGCGGAGGGC 0.483000 26 94 3.73808e-20 4.96562e-20 1 1 0 KCNK3 3777 broad.mit.edu 37 2 26950683 26950683 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:26950683G>T ENST00000302909.3 + 2 557 c.432G>T c.(430-432)aaG>aaT p.K144N NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 144 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCGCGCCAAGAAGGGGCTGG 0.652000 26 143 1.2476e-16 1.59514e-16 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129468150 129468150 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:129468150G>T ENST00000421865.2 + 6 915 c.866G>T c.(865-867)tGc>tTc p.C289F NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 289 Laminin EGF-like 1. 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) ATGTGCATCTGCTATGGTCAT 0.418000 22 108 4.4004e-07 4.87723e-07 1 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541888 133541888 + Silent SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:133541888A>G ENST00000409261.1 - 14 2869 c.2496T>C c.(2494-2496)acT>acC p.T832T NCKAP5_ENST00000317721.6_Silent_p.T832T|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 832 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ATTTTTCAAGAGTCACCAGGC 0.483000 53 149 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21641221 21641221 + Silent SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:21641221C>G ENST00000328843.6 + 18 3664 c.3633C>G c.(3631-3633)gtC>gtG p.V1211V DNAH11_ENST00000409508.3_Silent_p.V1211V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1211 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTGAGCAGGTCTATATTCAGC 0.388000 Kartagener syndrome 7 18 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192669 132192669 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:132192669C>T ENST00000359827.3 - 2 1746 c.784G>A c.(784-786)Gag>Aag p.E262K PLXNA4_ENST00000423507.2_Missense_Mutation_p.E262K|PLXNA4_ENST00000378539.5_Missense_Mutation_p.E262K|PLXNA4_ENST00000321063.4_Missense_Mutation_p.E262K Q9HCM2 PLXA4_HUMAN plexin A4 262 Sema. 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 GACACCATCTCAGGTTGGAGG 0.488000 10 49 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119549168 119549168 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:119549168G>A ENST00000264025.3 - 2 917 c.387C>T c.(385-387)ttC>ttT p.F129F PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Silent_p.F129F|PVRL1_ENST00000341398.2_Silent_p.F129F NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 129 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TGCCCGTAGGGAAGGTAGCAA 0.612000 34 140 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150654475 150654475 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:150654475C>A ENST00000392968.2 - 3 1864 c.744G>T c.(742-744)aaG>aaT p.K248N KCNH2_ENST00000430723.3_Missense_Mutation_p.K344N|KCNH2_ENST00000262186.5_Missense_Mutation_p.K344N Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 344 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AGGGGTCGCCCTTGAGGTCCA 0.562000 5 39 0.00116845 0.00120897 1 1 0 VARS 7407 broad.mit.edu 37 6 31752074 31752074 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:31752074C>A ENST00000375663.3 - 13 2028 c.1588G>T c.(1588-1590)Gag>Tag p.E530* VARS_ENST00000444930.2_Nonsense_Mutation_p.E235* NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 530 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) ACCACCACCTCCTCGTCGCTA 0.602000 120 209 4.94481e-55 7.29996e-55 1 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14850265 14850265 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:14850265G>A ENST00000358984.4 + 35 3271 c.3091G>A c.(3091-3093)Gaa>Aaa p.E1031K NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1116 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TATATTAAAAGAAAAAATTAG 0.284000 4 16 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462025 5462025 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:5462025G>C ENST00000380211.1 - 1 719 c.720C>G c.(718-720)ctC>ctG p.L240L HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGGTGTTGAGTGCCTTGA 0.493000 10 25 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10468736 10468736 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:10468736G>T ENST00000382483.3 - 4 3095 c.2872C>A c.(2872-2874)Cgc>Agc p.R958S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 958 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGCCATTCGCGGACCACAGCC 0.637000 35 95 1.36615e-20 1.81814e-20 1 1 0 YJEFN3 374887 broad.mit.edu 37 19 19646177 19646177 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:19646177G>T ENST00000555938.1 + 6 470 c.458G>T c.(457-459)cGc>cTc p.R153L YJEFN3_ENST00000436027.4_Missense_Mutation_p.R104L|YJEFN3_ENST00000514277.3_Missense_Mutation_p.R154L p.R154H(1) TACCCCACACGCTCGCTGGAC 0.627000 16 34 2.32078e-09 2.71517e-09 1 1 0 OR51S1 119692 broad.mit.edu 37 11 4870246 4870246 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:4870246G>A ENST00000322101.2 - 1 268 c.193C>T c.(193-195)Cgc>Tgc p.R65C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCATTGGGCGGTGCAGGGCG 0.567000 26 43 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951365 119951365 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:119951365G>T ENST00000307142.4 + 4 1631 c.1435G>T c.(1435-1437)Gac>Tac p.D479Y SYNPO2_ENST00000434046.2_Missense_Mutation_p.D479Y|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D479Y|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 479 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAACAGAGGGGACAAGATGGA 0.473000 15 26 3.27435e-08 3.72133e-08 1 1 0 KRBA1 84626 broad.mit.edu 37 7 149428770 149428770 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:149428770C>T ENST00000255992.10 + 17 2551 c.2152C>T c.(2152-2154)Cag>Tag p.Q718* KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonsense_Mutation_p.Q658*|KRBA1_ENST00000319551.8_Nonsense_Mutation_p.Q658* NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 719 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGTACAGCTCAGGATCCCTG 0.522000 6 23 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075322 226075322 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:226075322C>T ENST00000272134.5 - 3 593 c.514G>A c.(514-516)Gag>Aag p.E172K RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280Q NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 172 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CAGCCGCTCTCGTGGACGGAC 0.711000 6 39 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42037843 42037843 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:42037843G>C ENST00000220809.4 - 11 1395 c.1139C>G c.(1138-1140)cCt>cGt p.P380R PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.P317R|PLAT_ENST00000429089.2_Missense_Mutation_p.P380R|PLAT_ENST00000352041.3_Missense_Mutation_p.P334R|PLAT_ENST00000429710.2_Missense_Mutation_p.P254R|PLAT_ENST00000524009.1_Missense_Mutation_p.P291R NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 380 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTCCTCGCCAGGGACCACCCG 0.478000 52 223 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44222933 44222933 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:44222933C>G ENST00000244314.5 + 2 422 c.223C>G c.(223-225)Cgt>Ggt p.R75G NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 75 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CAATGCCCTGCGTGGCCTGGA 0.677000 74 99 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933638 209933638 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:209933638G>A ENST00000367024.1 + 3 770 c.254G>A c.(253-255)aGg>aAg p.R85K TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R85K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R85K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R85K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R85K Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 85 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCCCAGGCCAGGGAGCAAGGG 0.602000 14 36 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890737 15890737 + RNA SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:15890737G>A ENST00000587443.2 - 0 60 NR_033864.1 AGGGCAGACAGGATGGAGGGT 0.672000 3 19 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86027781 86027781 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:86027781C>T ENST00000414626.2 + 5 1721 c.832C>T c.(832-834)Cag>Tag p.Q278* LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.Q298* Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 298 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GATAAAACTTCAGAAATTAGA 0.313000 9 25 0 0 1 0 0 CAPG 822 broad.mit.edu 37 2 85628669 85628669 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:85628669G>A ENST00000263867.4 - 4 583 c.334C>T c.(334-336)Cgg>Tgg p.R112W CAPG_ENST00000409921.1_Missense_Mutation_p.R112W|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Missense_Mutation_p.R112W|CAPG_ENST00000409670.1_Missense_Mutation_p.R112W NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 112 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 TTGAGGCCCCGTGGGAAGTAG 0.632000 25 140 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417510 40417510 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:40417510C>A ENST00000333407.5 + 4 1090 c.996C>A c.(994-996)ggC>ggA p.G332G FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 332 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGGTGTCAGGCTGCCGCCACC 0.687000 19 66 1.40151e-16 1.78874e-16 1 1 0 ATP8B1 5205 broad.mit.edu 37 18 55359140 55359140 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:55359140G>A ENST00000536015.1 - 12 1238 c.1119C>T c.(1117-1119)ctC>ctT p.L373L RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.L373L|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 373 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) CTCCATCATAGAGGTACCAAG 0.463000 17 54 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898882 103898882 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:103898882C>G ENST00000278070.2 + 5 656 c.617C>G c.(616-618)tCt>tGt p.S206C PPRC1_ENST00000413464.2_Missense_Mutation_p.S206C NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCAGATCCCTCTTGGGACTTC 0.537000 57 190 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173339729 173339729 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:173339729C>T ENST00000375221.2 + 8 1379 c.1176C>T c.(1174-1176)gtC>gtT p.V392V ITGA6_ENST00000264106.6_Silent_p.V392V|ITGA6_ENST00000264107.7_Silent_p.V353V|ITGA6_ENST00000409532.1_Silent_p.V234V|ITGA6_ENST00000409080.1_Silent_p.V353V|ITGA6_ENST00000343713.4_Silent_p.V348V P23229 ITA6_HUMAN integrin, alpha 6 392 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) CAGTGTATGTCTACATGAACC 0.398000 13 38 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054716 29054716 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:29054716A>G ENST00000377173.2 - 1 374 c.310T>C c.(310-312)Ttc>Ctc p.F104L NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 AGGGCCAGGAAGATGATGAGG 0.468000 8 109 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17985497 17985497 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:17985497C>T ENST00000222248.3 + 4 847 c.500C>T c.(499-501)tCg>tTg p.S167L NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 167 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ATCTGGGCGTCGCTCCTGTCC 0.602000 10 56 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25656807 25656807 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:25656807C>T ENST00000376436.1 - 4 1656 c.1117G>A c.(1117-1119)Gag>Aag p.E373K ZNF337_ENST00000538750.1_Missense_Mutation_p.E341K|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.E373K|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAGGGCTTCTCCCCTGAGTGT 0.507000 44 88 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95912420 95912420 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:95912420C>A ENST00000334258.5 - 8 1472 c.1458G>T c.(1456-1458)ctG>ctT p.L486L SYNE3_ENST00000554873.1_Silent_p.L243L|SYNE3_ENST00000553340.1_Silent_p.L486L|SYNE3_ENST00000557275.1_Silent_p.L486L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 AGCTTTCCATCAGGGCTGCCT 0.587000 41 125 5.59293e-11 6.63003e-11 1 1 0 KCTD16 57528 broad.mit.edu 37 5 143586314 143586314 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:143586314C>T ENST00000507359.2 + 2 1128 c.37C>T c.(37-39)Cga>Tga p.R13* KCTD16_ENST00000512467.1_Nonsense_Mutation_p.R13* NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 13 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TTATTATCCTCGAGAACAAGG 0.458000 19 70 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154173449 154173449 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:154173449G>C ENST00000336314.4 + 6 751 c.727G>C c.(727-729)Gat>Cat p.D243H NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 320 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCACGACCAGGATGAGACATC 0.701000 65 110 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216420067 216420067 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:216420067G>A ENST00000366943.2 - 13 3055 c.2669C>T c.(2668-2670)aCc>aTc p.T890I USH2A_ENST00000307340.3_Missense_Mutation_p.T890I|USH2A_ENST00000366942.3_Missense_Mutation_p.T890I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 890 Laminin EGF-like 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTGTCAATGGTCAAATTGTA 0.473000 HNSCC(13;0.011) 66 142 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104054472 104054472 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:104054472C>T ENST00000388887.2 + 17 2004 c.1800C>T c.(1798-1800)gcC>gcT p.A600A NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 600 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTGAAGTGGCCACTCTCATCT 0.473000 14 63 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149640 34149640 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:34149640G>T ENST00000346193.3 - 1 807 c.756C>A c.(754-756)ccC>ccA p.P252P NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 252 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GACGAGTGATGGGAGGCCCCG 0.632000 4 33 0.00024832 0.000261851 1 1 0 GDA 9615 broad.mit.edu 37 9 74825638 74825638 + Silent SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:74825638T>C ENST00000358399.3 + 4 513 c.420T>C c.(418-420)tgT>tgC p.C140C GDA_ENST00000376986.1_Silent_p.C98C|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Silent_p.C140C|GDA_ENST00000545168.1_Silent_p.C66C|GDA_ENST00000376989.3_Silent_p.C115C NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 140 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCACAGCTTGTTACTTTGCAA 0.428000 21 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009282 9009282 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:9009282C>G ENST00000397910.4 - 40 39394 c.39191G>C c.(39190-39192)aGa>aCa p.R13064T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13066 SEA 7. 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 AGAGATCAGTCTGCAGCCAGA 0.522000 16 49 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476743 120476743 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:120476743C>T ENST00000355622.6 + 3 2438 c.2337C>T c.(2335-2337)ctC>ctT p.L779L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L739L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 779 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGACCCTGCTCAGGCAGCAGG 0.537000 65 90 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60584122 60584122 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:60584122C>A ENST00000252996.3 - 5 1869 c.1870G>T c.(1870-1872)Gtg>Ttg p.V624L NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 624 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) AAATTCTGCACGAGCTCTTTC 0.448000 45 154 3.05275e-18 3.97412e-18 1 1 0 WSCD1 23302 broad.mit.edu 37 17 6023850 6023850 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:6023850C>A ENST00000574946.1 + 9 1987 c.1597C>A c.(1597-1599)Cgg>Agg p.R533R WSCD1_ENST00000539421.1_Silent_p.R533R|WSCD1_ENST00000317744.5_Silent_p.R533R|WSCD1_ENST00000574232.1_Silent_p.R533R|WSCD1_ENST00000573634.1_Silent_p.R417R Q658N2 WSCD1_HUMAN WSC domain containing 1 533 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GCGGCGCGGCCGGCGCTCCCA 0.632000 4 133 1 1 1 1 0 CFH 3075 broad.mit.edu 37 1 196694367 196694367 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:196694367G>C ENST00000367429.4 + 12 2053 c.1813G>C c.(1813-1815)Gga>Cga p.G605R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 605 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TACAATAGTTGGACCTAATTC 0.378000 21 65 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49938099 49938099 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:49938099G>A ENST00000257981.6 + 7 1383 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 375 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GCACTGGGTCGCCTGCGTCTG 0.647000 11 26 0 0 1 0 0 SERPINE2 5270 broad.mit.edu 37 2 224849492 224849492 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:224849492C>A ENST00000409840.3 - 6 1521 c.861G>T c.(859-861)aaG>aaT p.K287N SERPINE2_ENST00000409304.1_Missense_Mutation_p.K287N|SERPINE2_ENST00000447280.2_Missense_Mutation_p.K299N|SERPINE2_ENST00000258405.4_Missense_Mutation_p.K287N P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 287 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CCTGCACCCTCTTGGGCACCA 0.527000 8 18 5.18039e-06 5.63702e-06 1 1 0 CPXM2 119587 broad.mit.edu 37 10 125526498 125526498 + Missense_Mutation SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:125526498T>G ENST00000241305.3 - 10 1624 c.1470A>C c.(1468-1470)gaA>gaC p.E490D CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 490 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCGTGGCATTTTCCGACAGAA 0.463000 10 65 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115453118 115453118 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:115453118G>A ENST00000369522.3 + 17 1661 c.1421G>A c.(1420-1422)aGa>aAa p.R474K SYCP1_ENST00000369518.1_Missense_Mutation_p.R474K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 474 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCCAAGCCAGAGAGGTTTGT 0.264000 30 58 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127487026 127487026 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:127487026C>G ENST00000262461.2 + 14 2390 c.2201C>G c.(2200-2202)gCt>gGt p.A734G SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 734 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) AACTGGTGGGCTGCATTGCTA 0.378000 23 61 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136312 55136312 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:55136312A>G ENST00000314706.3 + 1 953 c.953A>G c.(952-954)aAg>aGg p.K318R NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TATACCCTGAAGAATGCAGAA 0.378000 28 195 0 0 1 0 0 GDF7 151449 broad.mit.edu 37 2 20871058 20871058 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:20871058C>T ENST00000272224.3 + 2 1802 c.1226C>T c.(1225-1227)gCg>gTg p.A409V NM_182828.2 NP_878248.2 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 409 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACCAGACGCGGCGCCGGCC 0.607000 20 64 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43499270 43499270 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:43499270G>C ENST00000265351.7 - 22 2697 c.2487C>G c.(2485-2487)ttC>ttG p.F829L NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 829 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGACGGTTTTGAAGACAGGAG 0.443000 8 161 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73161801 73161801 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:73161801G>C ENST00000545377.1 + 18 2291 c.2115G>C c.(2113-2115)gaG>gaC p.E705D ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E705D|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E392D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E705D|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E705D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E705D|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E705D NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 AATTCCAAGAGAAATATAACA 0.284000 3 19 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115612494 115612494 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:115612494G>A ENST00000361384.2 - 1 1365 c.448C>T c.(448-450)Cgc>Tgc p.R150C DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R150C NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 150 Nuclear localization region. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GTTTCAGAGCGTGGTGGAGAA 0.398000 Other identified genes with known or suspected DNA repair function 8 42 0 0 1 0 0 CHTF18 63922 broad.mit.edu 37 16 841226 841226 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:841226G>T ENST00000317063.6 + 9 1545 c.1545G>T c.(1543-1545)agG>agT p.R515S CHTF18_ENST00000455171.2_Missense_Mutation_p.R348S|CHTF18_ENST00000262315.9_Missense_Mutation_p.R320S|CHTF18_ENST00000491530.1_3'UTR Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 320 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) GCCACGAGAGGCCTTCCCGGA 0.642000 9 13 2.17888e-05 2.33544e-05 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55175213 55175213 + Splice_Site SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:55175213G>T ENST00000391736.1 + 5 387 c.70_splice c.e5-1 p.G24_splice LILRB4_ENST00000391733.3_Splice_Site_p.G24_splice|LILRB4_ENST00000270452.2_Splice_Site_p.G24_splice|LILRB4_ENST00000391734.3_Splice_Site_p.G24_splice|LILRB4_ENST00000430952.2_Splice_Site_p.G24_splice 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 24 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) TTCTTCCAGGGCCCCTCCCCA 0.627000 20 65 4.96729e-08 5.58333e-08 1 1 0 C2orf53 339779 broad.mit.edu 37 2 27359964 27359964 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:27359964C>A ENST00000335524.3 - 3 1759 c.1234G>T c.(1234-1236)Gtc>Ttc p.V412F NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 412 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGAACTAGACTGATGACTTT 0.607000 27 44 1.1804e-14 1.46476e-14 1 1 0 CDH13 1012 broad.mit.edu 37 16 83711945 83711945 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:83711945G>A ENST00000566620.1 + 10 1707 c.1417G>A c.(1417-1419)Gag>Aag p.E473K CDH13_ENST00000268613.10_Missense_Mutation_p.E520K|CDH13_ENST00000428848.3_Missense_Mutation_p.E434K NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 473 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGATGTCAACGAGGGCCCAGT 0.602000 21 95 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173352023 173352023 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:173352023G>C ENST00000375221.2 + 16 2322 c.2119G>C c.(2119-2121)Gat>Cat p.D707H ITGA6_ENST00000264106.6_Missense_Mutation_p.D707H|ITGA6_ENST00000264107.7_Missense_Mutation_p.D668H|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.D549H|ITGA6_ENST00000409080.1_Missense_Mutation_p.D668H|ITGA6_ENST00000343713.4_Missense_Mutation_p.D663H P23229 ITA6_HUMAN integrin, alpha 6 707 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) AGTTCTAAAAGATCAGAAGGA 0.373000 10 54 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132630289 132630289 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:132630289C>T ENST00000315480.4 + 11 854 c.696C>T c.(694-696)acC>acT p.T232T USP20_ENST00000372429.3_Silent_p.T232T|USP20_ENST00000358355.1_Silent_p.T232T Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 232 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TCTAGGACACCCAAGAGTTCC 0.637000 17 70 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9371238 9371238 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:9371238G>A ENST00000378501.2 + 14 1314 c.1299G>A c.(1297-1299)ttG>ttA p.L433L PLCB4_ENST00000278655.4_Silent_p.L433L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.L433L|PLCB4_ENST00000334005.3_Silent_p.L433L|PLCB4_ENST00000414679.2_Silent_p.L433L|PLCB4_ENST00000378473.3_Silent_p.L433L NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 433 PI-PLC X-box. 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 ATCTCCTGTTGAAACAAGCAC 0.343000 20 28 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3189270 3189270 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:3189270G>C ENST00000251607.6 + 7 1041 c.939G>C c.(937-939)ttG>ttC p.L313F TRNT1_ENST00000280591.6_Missense_Mutation_p.L293F NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 313 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) ATTTGAGGTTGAAGATCGCAA 0.338000 24 79 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229109 90229109 + RNA SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:90229109C>T ENST00000390278.2 + 0 65 TCCTGCTGCTCTGGCTCCCAG 0.532000 49 195 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100363631 100363631 + Splice_Site SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:100363631G>T ENST00000262233.6 + 7 966 c.827_splice c.e7+1 p.C276_splice EML1_ENST00000334192.4_Splice_Site_p.C295_splice|EML1_ENST00000327921.9_Splice_Site_p.C264_splice NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 276 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GACGTGAAGTGGTAAGTCCTG 0.547000 11 31 0.00010058 0.000106531 1 1 0 ZNF599 148103 broad.mit.edu 37 19 35250532 35250532 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:35250532C>T ENST00000329285.7 - 4 1547 c.1174G>A c.(1174-1176)Gag>Aag p.E392K NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TAGGGTTTCTCTCCAGTGTGA 0.458000 14 81 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125103759 125103759 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:125103759C>A ENST00000522917.1 + 34 4693 c.4487C>A c.(4486-4488)cCt>cAt p.P1496H FER1L6_ENST00000399018.1_Missense_Mutation_p.P1496H|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1496 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TACTTTCACCCTGGGAAAATA 0.458000 45 55 1.00953e-15 1.26811e-15 1 1 0 TMEM132D 121256 broad.mit.edu 37 12 129559126 129559126 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:129559126T>C ENST00000422113.2 - 9 2920 c.2594A>G c.(2593-2595)aAg>aGg p.K865R TMEM132D_ENST00000389441.4_Missense_Mutation_p.K403R NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 865 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTGGCCTTTCTTCTTCTGCAG 0.562000 13 73 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 865594 865594 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:865594C>T ENST00000323510.4 - 12 1339 c.1340G>A c.(1339-1341)gGc>gAc p.G447D BRD9_ENST00000467963.1_Missense_Mutation_p.G543D|BRD9_ENST00000483173.1_Missense_Mutation_p.G490D|BRD9_ENST00000388890.4_Missense_Mutation_p.G427D Q9H8M2 BRD9_HUMAN bromodomain containing 9 543 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CGGCCGAGAGCCGCCGCGCTC 0.642000 6 409 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215813997 215813997 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:215813997C>T ENST00000366943.2 - 68 15257 c.14871G>A c.(14869-14871)ctG>ctA p.L4957L USH2A_ENST00000307340.3_Silent_p.L4957L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4957 Fibronectin type-III 35. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTGGCCGTTCAGGAGGAAGG 0.547000 HNSCC(13;0.011) 9 65 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574136 28574136 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:28574136G>T ENST00000220562.4 + 3 1462 c.560G>T c.(559-561)cGt>cTt p.R187L EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 187 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GATTATTCTCGTTGCCCTCTC 0.592000 24 87 4.72057e-08 5.32272e-08 1 1 0 KCNJ15 3772 broad.mit.edu 37 21 39671979 39671979 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:39671979G>T ENST00000398930.1 + 4 1150 c.796G>T c.(796-798)Gac>Tac p.D266Y KCNJ15_ENST00000398932.1_Missense_Mutation_p.D266Y|KCNJ15_ENST00000328656.3_Missense_Mutation_p.D266Y|KCNJ15_ENST00000398934.1_Missense_Mutation_p.D266Y|KCNJ15_ENST00000398938.2_Missense_Mutation_p.D266Y Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 266 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CCCCCTGAGAGACCTCACACC 0.547000 29 78 1.2476e-16 1.59514e-16 1 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49967389 49967389 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:49967389G>T ENST00000293350.4 + 10 1363 c.1200G>T c.(1198-1200)ccG>ccT p.P400P ALDH16A1_ENST00000540132.1_Silent_p.P237P|ALDH16A1_ENST00000455361.2_Silent_p.P349P|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.P235P NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 400 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TGCAGGTGCCGTGGCCTGTGG 0.711000 9 30 4.68919e-08 5.30404e-08 1 1 0 PTBP1 5725 broad.mit.edu 37 19 804148 804148 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:804148C>G ENST00000356948.6 + 4 651 c.228C>G c.(226-228)atC>atG p.I76M PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.I76M|PTBP1_ENST00000394601.4_Missense_Mutation_p.I76M NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 76 RRM 1. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GGGAAGTCATCTCCCTGGGGC 0.592000 16 31 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200816816 200816816 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:200816816G>C ENST00000358823.2 + 10 1511 c.1241G>C c.(1240-1242)gGg>gCg p.G414A CAMSAP2_ENST00000236925.4_Missense_Mutation_p.G425A|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G398A NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 425 cytoplasm|microtubule protein binding GGCTTCATAGGGACATGGCCC 0.308000 31 86 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432536 104432536 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:104432536A>T ENST00000361820.3 - 3 2758 c.2158T>A c.(2158-2160)Ttg>Atg p.L720M NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 720 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CAGATGTTCAAGGCTGAAGAA 0.448000 77 76 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122667726 122667726 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:122667726C>G ENST00000284273.5 + 9 1717 c.1342C>G c.(1342-1344)Caa>Gaa p.Q448E NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 448 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) TGGATGCATGCAAGCAAGACT 0.488000 22 103 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117352740 117352740 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:117352740G>A ENST00000321322.6 - 12 2678 c.2677C>T c.(2677-2679)Cgc>Tgc p.R893C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R623C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 833 Fibronectin type-III 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGCATGACGCGGTCAGGGTCG 0.637000 9 105 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982309 57982309 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:57982309C>T ENST00000309433.6 + 1 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TGGGATTTTTCAAGCAGGATG 0.433000 82 128 0 0 1 0 0 GLIPR2 152007 broad.mit.edu 37 9 36148589 36148589 + Silent SNP G G A rs138525625 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:36148589G>A ENST00000377960.4 + 3 202 c.168G>A c.(166-168)ccG>ccA p.P56P GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.P56P|GLIPR2_ENST00000474050.1_3'UTR NM_022343.2 NP_071738.1 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 56 extracellular region|Golgi membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3) 10 AGCACAGCCCGGAGTCCAGCC 0.607000 30 18 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109921434 109921434 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:109921434G>A ENST00000342494.3 + 3 673 c.78G>A c.(76-78)caG>caA p.Q26Q UBE3B_ENST00000536398.1_Silent_p.Q26Q|UBE3B_ENST00000340074.5_Silent_p.Q26Q|UBE3B_ENST00000280774.5_Silent_p.Q26Q|UBE3B_ENST00000434735.2_Silent_p.Q26Q|UBE3B_ENST00000540230.1_Silent_p.Q26Q|UBE3B_ENST00000537063.1_Silent_p.Q26Q NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 26 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GGCTTGTGCAGAAGGAACGGG 0.537000 36 118 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26273388 26273388 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:26273388C>T ENST00000381655.2 + 25 2431 c.2289C>T c.(2287-2289)atC>atT p.I763I ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.I723I NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 723 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TGGCCCTGATCATCGATGGCC 0.537000 22 53 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164737505 164737505 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:164737505G>T ENST00000264382.3 - 28 3370 c.3308C>A c.(3307-3309)tCg>tAg p.S1103* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1103 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGGCGAGTCGATATTTGAAT 0.378000 HNSCC(35;0.089) 25 43 2.65835e-16 3.38077e-16 1 1 0 UGT3A1 133688 broad.mit.edu 37 5 35965879 35965879 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:35965879G>C ENST00000274278.3 - 4 809 c.452C>G c.(451-453)tCt>tGt p.S151C UGT3A1_ENST00000333811.4_Missense_Mutation_p.S97C|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S117C|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S151C|UGT3A1_ENST00000513233.1_Intron NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 151 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATCAGGAAAGAACAGAAATC 0.398000 8 116 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34573101 34573101 + Silent SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:34573101T>G ENST00000374789.3 - 21 3472 c.3147A>C c.(3145-3147)tcA>tcC p.S1049S PARD3_ENST00000545260.1_Silent_p.S959S|PARD3_ENST00000374790.3_Silent_p.S989S|PARD3_ENST00000350537.4_Silent_p.S1003S|PARD3_ENST00000374788.3_Silent_p.S1046S|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000545693.1_Silent_p.S1033S|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000466092.1_5'UTR NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1049 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCTCCTCTTCTGATGTAAAGG 0.343000 69 73 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48248439 48248439 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:48248439C>A ENST00000400384.2 + 4 1859 c.823C>A c.(823-825)Cgc>Agc p.R275S MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.R64S NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 275 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GAGGCCTCTGCGCAAGCTGCT 0.607000 20 37 2.21704e-12 2.69507e-12 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367792 145367792 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:145367792G>T ENST00000342960.5 + 83 10423 c.10388G>T c.(10387-10389)gGg>gTg p.G3463V NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3463 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) agaaaagaaggggaagaagaT 0.433000 26 90 9.57634e-11 1.13333e-10 1 1 0 OR4A15 81328 broad.mit.edu 37 11 55135585 55135585 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:55135585A>G ENST00000314706.3 + 1 226 c.226A>G c.(226-228)Acc>Gcc p.T76A NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TATCATAGTGACCATCATGGC 0.438000 14 110 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35685020 35685020 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:35685020G>C ENST00000400445.3 + 13 2441 c.1907G>C c.(1906-1908)aGa>aCa p.R636T NBEA_ENST00000379939.2_Missense_Mutation_p.R636T|NBEA_ENST00000310336.4_Missense_Mutation_p.R636T|NBEA_ENST00000540320.1_Missense_Mutation_p.R636T NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 636 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACCATACGCAGAGTAGGAACA 0.368000 7 14 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220246111 220246111 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:220246111C>T ENST00000273075.4 - 13 1405 c.1185G>A c.(1183-1185)gcG>gcA p.A395A DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.A403A|DNPEP_ENST00000373972.1_Silent_p.A320A NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 385 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) CCTCTGACACCGCGTTTGAAG 0.592000 57 233 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179608977 179608977 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:179608977C>T ENST00000444136.1 + 10 1774 c.1524C>T c.(1522-1524)cgC>cgT p.R508R TDRD5_ENST00000294848.8_Silent_p.R508R|TDRD5_ENST00000367614.1_Silent_p.R508R NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 508 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TCCACAGGCGCTGTTATTCTA 0.373000 16 175 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150131575 150131575 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:150131575T>C ENST00000369124.4 + 6 1365 c.1087T>C c.(1087-1089)Tca>Cca p.S363P PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S329P|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S180P NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 363 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGGAGAGGCATCATCGAATTG 0.622000 42 48 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890044 23890044 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:23890044G>A ENST00000532292.1 - 1 1131 c.1037C>T c.(1036-1038)cCt>cTt p.P346L NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGAGGTGCTAGGGCCCTCCCA 0.647000 48 43 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139564104 139564104 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:139564104G>C ENST00000358430.3 - 10 1846 c.1614C>G c.(1612-1614)ctC>ctG p.L538L RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 538 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CTGGCTCCTTGAGAGCGGCGT 0.562000 49 91 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6943279 6943279 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:6943279G>A ENST00000389658.3 - 62 9060 c.8967C>T c.(8965-8967)atC>atT p.I2989I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2989 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAATCAGAGTGATACGGTGTT 0.498000 25 92 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48462137 48462137 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:48462137G>C ENST00000358536.4 - 10 2234 c.1965C>G c.(1963-1965)gtC>gtG p.V655V PLXNB1_ENST00000358459.4_Silent_p.V655V|PLXNB1_ENST00000296440.6_Silent_p.V655V|PLXNB1_ENST00000456774.1_Silent_p.V655V|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 655 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGCTGCCAGACACACCAGT 0.652000 7 37 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43298876 43298876 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:43298876C>G ENST00000269844.3 - 3 451 c.341G>C c.(340-342)cGg>cCg p.R114P PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGGCTGTACCCGAGGGCGGGG 0.766000 12 26 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30921948 30921948 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:30921948C>A ENST00000543491.1 + 2 3348 c.3348C>A c.(3346-3348)acC>acA p.T1116T PCDH7_ENST00000509925.1_3'UTR O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 ATGAAAGGACCACGCCGGATG 0.517000 10 44 0.000442599 0.000463984 1 1 0 TMIGD1 388364 broad.mit.edu 37 17 28651904 28651904 + Silent SNP G G A rs143426056 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:28651904G>A ENST00000328886.4 - 4 642 c.570C>T c.(568-570)aaC>aaT p.N190N TMIGD1_ENST00000538566.2_Silent_p.N190N NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 190 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 TGTAGGTTCCGTTGTCAGGCT 0.418000 36 98 0 0 1 0 0 PIGN 23556 broad.mit.edu 37 18 59780478 59780478 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:59780478G>C ENST00000357637.5 - 16 1738 c.1323C>G c.(1321-1323)ttC>ttG p.F441L PIGN_ENST00000400334.3_Missense_Mutation_p.F441L NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 441 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) CGCCCAAAAAGAATCTGTCAT 0.358000 9 50 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517580 20517580 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:20517580G>T ENST00000375099.3 + 2 610 c.526G>T c.(526-528)Gtc>Ttc p.V176F NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 176 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 GAAATTCATCGTCCGAACCAA 0.527000 56 68 2.23044e-30 3.15611e-30 1 1 0 OR6C68 403284 broad.mit.edu 37 12 55886384 55886384 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:55886384T>A ENST00000379662.1 + 1 238 c.238T>A c.(238-240)Tgt>Agt p.C80S RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.C75S A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TACAGCTACCTGTGTTCCAAG 0.373000 22 59 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37953814 37953814 + Splice_Site SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:37953814C>A ENST00000436072.2 - 3 970 c.e3+1 EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AGACGACTTACCATAGCTGTA 0.393000 14 69 4.7546e-09 5.50857e-09 1 1 0 ADAD1 132612 broad.mit.edu 37 4 123302238 123302238 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:123302238G>T ENST00000296513.2 + 4 449 c.264G>T c.(262-264)atG>atT p.M88I ADAD1_ENST00000388725.2_Missense_Mutation_p.M70I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.M88I NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 88 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AATTTATAATGAAATACAAAC 0.388000 21 84 2.37509e-13 2.91692e-13 1 1 0 C9orf96 169436 broad.mit.edu 37 9 136269152 136269152 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:136269152C>A ENST00000371957.3 + 16 1819 c.1712C>A c.(1711-1713)gCc>gAc p.A571D C9orf96_ENST00000371955.1_Missense_Mutation_p.A104D NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 571 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CGGGGACTGGCCAGCCTGGTG 0.612000 OREG0019586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 82 3.83957e-06 4.21646e-06 1 1 0 USP24 23358 broad.mit.edu 37 1 55562208 55562208 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:55562208G>A ENST00000294383.6 - 50 6023 c.6024C>T c.(6022-6024)tgC>tgT p.C2008C USP24_ENST00000407756.1_Silent_p.C1848C NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2008 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTCCTCCAAAGCATTCATACT 0.308000 22 39 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183602624 183602624 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:183602624C>A ENST00000317096.4 - 1 71 c.11G>T c.(10-12)cGa>cTa p.R4L PARL_ENST00000435888.1_Missense_Mutation_p.R4L|PARL_ENST00000311101.5_Missense_Mutation_p.R4L NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 4 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CGCCCAGCCTCGCCACGCCAT 0.697000 OREG0015941 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0.00909568 0.00930358 1 1 0 LDHC 3948 broad.mit.edu 37 11 18472599 18472599 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:18472599G>A ENST00000541669.1 + 8 1035 c.924G>A c.(922-924)ttG>ttA p.L308L LDHC_ENST00000280704.4_Silent_p.L308L|LDHC_ENST00000536880.1_Silent_p.L294L|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000535809.1_3'UTR P07864 LDHC_HUMAN lactate dehydrogenase C 308 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AAATTAACTTGAATTCTGAGG 0.373000 45 68 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862876 10862876 + RNA SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:10862876C>A ENST00000559480.1 + 0 172 p.Q58K(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CTGGGTGCACCAGGTCCATGC 0.562000 10 294 2.80697e-09 3.27328e-09 1 1 0 METTL18 92342 broad.mit.edu 37 1 169762216 169762216 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:169762216C>A ENST00000310392.4 - 2 974 c.621G>T c.(619-621)aaG>aaT p.K207N C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.K207N NM_033418.2 NP_219486.1 O95568 MET18_HUMAN methyltransferase like 18 207 cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 TGGACCCTCCCTTGAATGCAG 0.388000 65 152 3.07281e-33 4.40027e-33 1 1 0 TMEM186 25880 broad.mit.edu 37 16 8890052 8890052 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:8890052C>T ENST00000333050.6 - 2 432 c.399G>A c.(397-399)ctG>ctA p.L133L PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron NM_015421.3 NP_056236.2 Q96B77 TM186_HUMAN transmembrane protein 186 133 integral to membrane|mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 CAGACTCATTCAGATACAGGA 0.542000 36 89 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054788 29054788 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:29054788G>C ENST00000377173.2 - 1 302 c.238C>G c.(238-240)Cat>Gat p.H80D NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 ACCAACATATGAGGGACTGTA 0.448000 27 116 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419772 179419772 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:179419772T>C ENST00000589042.1 - 331 88638 c.88414A>G c.(88414-88416)Att>Gtt p.I29472V TTN_ENST00000359218.5_Missense_Mutation_p.I20532V|TTN_ENST00000342992.6_Missense_Mutation_p.I26904V|TTN_ENST00000342175.6_Missense_Mutation_p.I20599V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I27831V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I20407V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27831 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) TACCACTCAATAGTAGGCGCA 0.413000 12 46 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50760613 50760613 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:50760613G>T ENST00000440075.2 + 18 2149 c.2102G>T c.(2101-2103)gGc>gTc p.G701V MYH14_ENST00000601313.1_Missense_Mutation_p.G701V|MYH14_ENST00000262269.8_Missense_Mutation_p.G701V|MYH14_ENST00000598205.1_Missense_Mutation_p.G668V|MYH14_ENST00000596571.1_Missense_Mutation_p.G660V|MYH14_ENST00000425460.1_Missense_Mutation_p.G668V|MYH14_ENST00000376970.2_Missense_Mutation_p.G693V Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 660 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCACCAGGTGGCCGCCCCCGT 0.627000 6 11 0.00198382 0.00204966 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856851 19856851 + RNA SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:19856851C>G ENST00000548109.1 + 0 72 GCTCTCATGTCATCTACAGCA 0.333000 6 36 0 0 1 0 0 KLF11 8462 broad.mit.edu 37 2 10187792 10187792 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:10187792C>T ENST00000535335.1 + 3 493 c.277C>T c.(277-279)Cag>Tag p.Q93* KLF11_ENST00000540845.1_Nonsense_Mutation_p.Q93*|KLF11_ENST00000305883.1_Nonsense_Mutation_p.Q110* NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 110 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) AACTCCTCCTCAGAGCCCTGA 0.423000 21 106 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080401 152080401 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:152080401C>A ENST00000368804.1 - 2 5291 c.5292G>T c.(5290-5292)ctG>ctT p.L1764L NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1764 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGCGGCGCAGCTGCTGTT 0.587000 70 129 1.15062e-32 1.6444e-32 1 1 0 KCNK16 83795 broad.mit.edu 37 6 39282819 39282819 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:39282819G>A ENST00000373229.5 - 6 902 c.889C>T c.(889-891)Ccc>Tcc p.P297S KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Missense_Mutation_p.P185S|KCNK16_ENST00000373227.4_Missense_Mutation_p.P250S NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 297 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 AAGTCCTGGGGTGTGACTTGG 0.587000 39 94 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28898774 28898774 + Nonsense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:28898774T>A ENST00000395503.4 + 8 843 c.659T>A c.(658-660)tTg>tAg p.L220* ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.L95*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.L220* NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 220 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GGCAAGGCCTTGGGCATCGTG 0.607000 27 88 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93617414 93617414 + Splice_Site SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:93617414C>A ENST00000394236.3 - 8 1044 c.e8-1 PROS1_ENST00000407433.1_Splice_Site NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCATCTATATCTGAGGTAAAA 0.358000 20 28 8.00594e-06 8.67209e-06 1 1 0 PES1 23481 broad.mit.edu 37 22 30977610 30977610 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:30977610T>A ENST00000402281.1 - 9 1226 c.235A>T c.(235-237)Agg>Tgg p.R79W PES1_ENST00000354694.6_Missense_Mutation_p.R218W|PES1_ENST00000405677.1_Missense_Mutation_p.R79W|PES1_ENST00000335214.6_Missense_Mutation_p.R218W|PES1_ENST00000402284.3_Missense_Mutation_p.R201W O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 218 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 GCCATGACCCTGTAGTCCACG 0.577000 17 29 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64410131 64410131 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:64410131C>T ENST00000301894.2 - 1 656 c.145G>A c.(145-147)Gag>Aag p.E49K NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron NM_138734.2 NP_620063.1 Q9P2S2 NRX2A_HUMAN neurexin 2 0 Laminin G-like 1. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGGGCCCCCTCGGCCGCCCCc 0.731000 7 24 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50308021 50308021 + RNA SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:50308021G>T ENST00000418948.1 + 0 564 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGTTCTGGCTGGGATGAGGGC 0.652000 4 13 0.150653 0.152141 1 1 0 FAM187A 100528020 broad.mit.edu 37 17 42978433 42978433 + Translation_Start_Site SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:42978433G>A ENST00000412523.2 + 0 153 CCDC103_ENST00000410027.1_Missense_Mutation_p.D23N|FAM187A_ENST00000331733.4_De_novo_Start_InFrame|CCDC103_ENST00000410006.2_Missense_Mutation_p.D23N|CCDC103_ENST00000417826.2_Missense_Mutation_p.D23N family with sequence similarity 187, member A ACTCACTGCTGATGAGAAGTA 0.502000 18 53 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543007 28543007 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:28543007G>A ENST00000452236.2 - 3 2092 c.1475C>T c.(1474-1476)tCa>tTa p.S492L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 492 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CCAGTGTGATGAGTTGTTAGT 0.438000 30 112 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684664 108684664 + Silent SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:108684664T>C ENST00000218006.2 - 7 1908 c.1617A>G c.(1615-1617)caA>caG p.Q539Q NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 539 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 breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ACCTCCCACTTTGGACCTCTG 0.428000 4 225 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168014354 168014354 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:168014354C>T ENST00000367840.3 + 16 2241 c.2147C>T c.(2146-2148)tCa>tTa p.S716L DCAF6_ENST00000367843.3_Missense_Mutation_p.S659L|DCAF6_ENST00000312263.6_Missense_Mutation_p.S639L|DCAF6_ENST00000432587.2_Missense_Mutation_p.S685L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 639 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 ACTGGGCCTTCAGCTCATGAA 0.493000 23 67 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26739419 26739419 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:26739419C>T ENST00000272371.2 - 5 502 c.376G>A c.(376-378)Ggc>Agc p.G126S OTOF_ENST00000403946.3_Missense_Mutation_p.G126S NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 126 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCAGGAGCCCACTGTGCCG 0.622000 29 132 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129058863 129058863 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:129058863G>C ENST00000394422.3 + 12 1469 c.1441G>C c.(1441-1443)Gag>Cag p.E481Q RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.E427Q|UTP14A_ENST00000371042.3_Missense_Mutation_p.E313Q|UTP14A_ENST00000425117.2_Missense_Mutation_p.E429Q NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 481 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AGCAAGTTCAGAGGGGACTAT 0.517000 39 145 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086232 175086232 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:175086232G>C ENST00000239462.4 + 10 2390 c.2277G>C c.(2275-2277)caG>caC p.Q759H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 759 Fibronectin type-III 6. 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) GGAAGGAGCAGAGTAGCACTG 0.647000 29 146 0 0 1 0 0 ENKD1 84080 broad.mit.edu 37 16 67700154 67700154 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:67700154C>G ENST00000243878.4 - 2 421 c.100G>C c.(100-102)Gag>Cag p.E34Q ENKD1_ENST00000602644.1_Missense_Mutation_p.E34Q NM_032140.1 NP_115516.1 enkurin domain containing 1 GCGTTTCCCTCGAGGCGCCCT 0.726000 12 39 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81372768 81372768 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:81372768C>G ENST00000222390.5 - 7 992 c.766G>C c.(766-768)Gat>Cat p.D256H HGF_ENST00000444829.2_Missense_Mutation_p.D256H|HGF_ENST00000453411.1_Missense_Mutation_p.D251H|HGF_ENST00000457544.2_Missense_Mutation_p.D251H NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 256 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TAATTATCATCAAAGCCCTTG 0.498000 16 48 0 0 1 0 0 MAF 4094 broad.mit.edu 37 16 79632692 79632692 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:79632692C>T ENST00000393350.1 - 1 1919 c.1108G>A c.(1108-1110)Gag>Aag p.E370K MAF_ENST00000569649.1_Missense_Mutation_p.E370K|MAF_ENST00000326043.4_Missense_Mutation_p.E370K NM_001031804.2 NP_001026974.1 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 370 Represses ARE-mediated transcription. transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5) 10 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) ATGAAAAACTCGGGAGAGGAC 0.592000 T IGH@ MM 8 30 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42144143 42144143 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:42144143G>C ENST00000401548.3 + 15 1753 c.1713G>C c.(1711-1713)ttG>ttC p.L571F MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.L311F NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 571 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACCCAGCTTTGATGGAAGTTT 0.493000 16 30 0 0 1 0 0 PEX14 5195 broad.mit.edu 37 1 10659362 10659362 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:10659362C>T ENST00000356607.4 + 4 317 c.237C>T c.(235-237)tcC>tcT p.S79S PEX14_ENST00000538836.1_Silent_p.S15S NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 79 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) AGCCTTCGTCCTTGGGCCCAG 0.552000 79 99 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99548225 99548225 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:99548225G>T ENST00000550693.2 - 1 299 c.46C>A c.(46-48)Ccc>Acc p.P16T ANKS1B_ENST00000546960.1_Missense_Mutation_p.P16T|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P16T|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P16T|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P16T|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P16T|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron NM_001204069.1|NM_001204070.1 NP_001190998.1|NP_001190999.1 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 0 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCGTCCACGGGGTAATAGCGG 0.532000 16 45 4.14922e-12 5.0268e-12 1 1 0 BST2 684 broad.mit.edu 37 19 17516254 17516254 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:17516254A>T ENST00000252593.6 - 1 203 c.131T>A c.(130-132)tTc>tAc p.F44Y BST2_ENST00000527220.1_5'UTR NM_004335.2 NP_004326.1 Q10589 BST2_HUMAN bone marrow stromal cell antigen 2 44 B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome protein homodimerization activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2) 9 CTTGATGGTGAAGATAATCAA 0.577000 47 79 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40715938 40715938 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:40715938C>T ENST00000298910.7 + 36 5330 c.5272C>T c.(5272-5274)Cat>Tat p.H1758Y NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1758 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTAGACAATCATCCAGAGAG 0.348000 12 30 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710887 117710887 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:117710887G>A ENST00000368508.3 - 12 1583 c.1385C>T c.(1384-1386)cCa>cTa p.P462L ROS1_ENST00000368507.3_Missense_Mutation_p.P471L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 462 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTTGGCTTGTGGCTTGATTGC 0.488000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 40 21 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109697836 109697836 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:109697836A>G ENST00000277225.5 + 6 6458 c.6169A>G c.(6169-6171)Aaa>Gaa p.K2057E ZNF462_ENST00000457913.1_Missense_Mutation_p.K2117E|ZNF462_ENST00000441147.2_Missense_Mutation_p.K963E|ZNF462_ENST00000542028.1_Missense_Mutation_p.K14E|ZNF462_ENST00000497489.1_3'UTR Q96JM2 ZN462_HUMAN zinc finger protein 462 2057 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATTCCGATGCAAACTCTGCTC 0.398000 37 41 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813484 106813484 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:106813484C>T ENST00000407775.2 + 8 1424 c.1174C>T c.(1174-1176)Ccc>Tcc p.P392S ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P123S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P260S|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P260S|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 392 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CGGCAAACTTCCCAGAGAAAG 0.512000 71 79 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509914 171509914 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:171509914G>T ENST00000367742.3 + 16 3551 c.3309G>T c.(3307-3309)caG>caT p.Q1103H PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1103H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1101H|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q1101H Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1101 protein C-terminus binding AACCATCTCAGGATACTGAGA 0.458000 24 76 2.21704e-12 2.69507e-12 1 1 0 C16orf89 146556 broad.mit.edu 37 16 5110325 5110325 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:5110325C>G ENST00000315997.5 - 3 672 c.471G>C c.(469-471)gaG>gaC p.E157D C16orf89_ENST00000422873.1_Missense_Mutation_p.E195D|C16orf89_ENST00000472572.3_Missense_Mutation_p.E157D|C16orf89_ENST00000350219.4_Missense_Mutation_p.E195D|C16orf89_ENST00000474471.3_Missense_Mutation_p.E157D|ALG1_ENST00000588623.1_Intron NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 157 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 CGTCACTTCTCTCCTCTGAGA 0.602000 17 56 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51503712 51503712 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:51503712G>T ENST00000600767.1 - 4 687 c.198C>A c.(196-198)aaC>aaA p.N66K KLK8_ENST00000320838.5_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.N111K|KLK8_ENST00000347619.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Missense_Mutation_p.N66K|KLK8_ENST00000593490.1_Intron O60259 KLK8_HUMAN kallikrein-related peptidase 8 66 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TAAGGACCCAGTTGCCACCTA 0.597000 38 85 2.26627e-22 3.07904e-22 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3267014 3267014 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:3267014G>A ENST00000602557.1 - 14 2233 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L CSMD1_ENST00000400186.3_Silent_p.L560L|CSMD1_ENST00000539096.1_Silent_p.L559L|CSMD1_ENST00000520002.1_Silent_p.L560L|CSMD1_ENST00000542608.1_Silent_p.L559L|CSMD1_ENST00000602723.1_Silent_p.L560L|CSMD1_ENST00000537824.1_Silent_p.L559L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 560 Sushi 3. 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) TCCCCCACCAGCTCAAAGGCC 0.562000 6 13 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127651473 127651473 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:127651473C>T ENST00000373555.4 - 18 2043 c.1710G>A c.(1708-1710)ctG>ctA p.L570L NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 570 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 CCCGCAGCCTCAGCAGGTCCT 0.647000 9 74 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26431289 26431289 + RNA SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:26431289A>T ENST00000466808.2 + 0 1447 CTGGGCCCTGACCTCCCTTAA 0.507000 46 95 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3002301 3002301 + Silent SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:3002301T>C ENST00000381127.1 + 6 645 c.424T>C c.(424-426)Ttg>Ctg p.L142L ARSF_ENST00000359361.2_Silent_p.L142L|ARSF_ENST00000537104.1_Silent_p.L142L NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 142 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCACCAAGGCTTGAACTGCGA 0.463000 15 42 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66115182 66115182 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:66115182G>A ENST00000503581.1 - 6 1478 c.941C>T c.(940-942)tCt>tTt p.S314F EYS_ENST00000370616.2_Missense_Mutation_p.S314F|EYS_ENST00000370618.3_Missense_Mutation_p.S314F|EYS_ENST00000393380.2_Missense_Mutation_p.S314F|EYS_ENST00000370621.3_Missense_Mutation_p.S314F|EYS_ENST00000342421.5_Missense_Mutation_p.S314F NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 314 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AGTATAAGCAGAACTGCTATT 0.393000 40 116 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155740888 155740888 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:155740888G>A ENST00000437809.1 - 19 2738 c.2616C>T c.(2614-2616)aaC>aaT p.N872N GON4L_ENST00000361040.5_Silent_p.N872N|GON4L_ENST00000271883.5_Silent_p.N872N|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.N872N Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 872 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTCTGTTCATGTTGAGGTTCT 0.428000 15 168 0 0 1 0 0 CMTM5 116173 broad.mit.edu 37 14 23847650 23847650 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:23847650C>A ENST00000359320.3 + 2 663 c.219C>A c.(217-219)ttC>ttA p.F73L CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.F73L|CMTM5_ENST00000382809.2_Missense_Mutation_p.F73L|CMTM5_ENST00000555731.1_Intron NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 73 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CACTTGCCTTCCTCTTCCTCT 0.582000 51 104 7.34454e-26 1.02309e-25 1 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047861 46047861 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:46047861A>T ENST00000397911.3 + 1 822 c.773A>T c.(772-774)cAg>cTg p.Q258L TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 258 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 TCCTCCCGCCAGCCCAGCTAT 0.692000 91 191 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111090523 111090523 + Nonsense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:111090523G>A ENST00000262839.2 - 6 2437 c.1519C>T c.(1519-1521)Cag>Tag p.Q507* NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 507 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAAGAGATCTGCAGAGGTCCT 0.463000 38 56 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234460105 234460105 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:234460105C>T ENST00000251722.6 - 7 871 c.754G>A c.(754-756)Gat>Aat p.D252N USP40_ENST00000450966.1_Missense_Mutation_p.D264N|USP40_ENST00000427112.2_Missense_Mutation_p.D252N Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 252 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TTCACAAAATCAAAATTAAAT 0.338000 4 22 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76982254 76982254 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:76982254G>T ENST00000315938.4 - 6 571 c.321C>A c.(319-321)taC>taA p.Y107* GDPD4_ENST00000376217.2_Nonsense_Mutation_p.Y107* NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 107 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding p.Y107*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CCAGGTGCACGTAGGGAGCAA 0.488000 49 34 1.00776e-21 1.35886e-21 1 1 0 INPP5F 22876 broad.mit.edu 37 10 121551134 121551134 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:121551134G>T ENST00000361976.2 + 4 587 c.421G>T c.(421-423)Gtg>Ttg p.V141L INPP5F_ENST00000369083.3_Missense_Mutation_p.V141L|INPP5F_ENST00000369081.1_Missense_Mutation_p.V45L NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 141 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TAAATCCAATGTGTCTGCTCC 0.318000 32 34 3.57733e-08 4.0528e-08 1 1 0 TAPBP 6892 broad.mit.edu 37 6 33272841 33272841 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:33272841G>T ENST00000434618.2 - 4 1138 c.793C>A c.(793-795)Cag>Aag p.Q265K TAPBP_ENST00000456592.2_Missense_Mutation_p.Q265K|TAPBP_ENST00000475304.1_Missense_Mutation_p.Q283K|TAPBP_ENST00000426633.2_Missense_Mutation_p.Q265K|TAPBP_ENST00000489157.1_Missense_Mutation_p.Q178K NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 265 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 GTGCCCTCCTGAAAGGGTTGA 0.577000 34 171 6.00712e-18 7.80599e-18 1 1 0 GPR141 353345 broad.mit.edu 37 7 37780047 37780047 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:37780047C>A ENST00000447769.1 + 4 341 c.52C>A c.(52-54)Ccc>Acc p.P18T GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.P18T|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 18 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TATAGTGACACCCCACTTAAT 0.493000 105 190 2.09607e-39 3.05037e-39 1 1 0 LHFPL3 375612 broad.mit.edu 37 7 103969248 103969248 + Silent SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:103969248T>C ENST00000535008.1 + 1 145 c.21T>C c.(19-21)gcT>gcC p.A7A LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 0 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 ccgccgccgctgccgccgccg 0.721000 5 19 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54254606 54254606 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:54254606G>T ENST00000259782.4 + 11 1410 c.1314G>T c.(1312-1314)tgG>tgT p.W438C NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 438 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CCAATTCCTGGGGAAAGTCAT 0.393000 35 114 3.09479e-21 4.15735e-21 1 1 0 ABCG4 64137 broad.mit.edu 37 11 119029292 119029292 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:119029292C>G ENST00000307417.3 + 11 1557 c.1193C>G c.(1192-1194)tCc>tGc p.S398C ABCG4_ENST00000531739.1_Missense_Mutation_p.S398C|ABCG4_ENST00000449422.2_Missense_Mutation_p.S398C NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 398 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CGGTTCATGTCCCACGTGGTT 0.562000 45 287 0 0 1 0 0 FAM153B 202134 broad.mit.edu 37 5 175530274 175530274 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:175530274G>T ENST00000253490.4 + 13 766 c.709G>T c.(709-711)Gag>Tag p.E237* FAM153B_ENST00000510151.1_Nonsense_Mutation_p.E160*|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Nonsense_Mutation_p.E160* P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 237 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) TTACAACGGCGAGGAGGAGGA 0.448000 57 185 2.67592e-24 3.69164e-24 1 1 0 OPRK1 4986 broad.mit.edu 37 8 54147571 54147571 + Missense_Mutation SNP A A C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:54147571A>C ENST00000265572.3 - 3 655 c.358T>G c.(358-360)Ttg>Gtg p.L120V OPRK1_ENST00000520287.1_Missense_Mutation_p.L120V|OPRK1_ENST00000524278.1_Missense_Mutation_p.L31V|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 120 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GAATTCATCAAGTAGACCGTA 0.408000 4 109 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628276 71628276 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:71628276T>A ENST00000377276.2 - 1 763 c.733A>T c.(733-735)Atc>Ttc p.I245F NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 245 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TAGATCTGGATGGGCTGGTCG 0.602000 28 63 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32928113 32928113 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:32928113C>T ENST00000342179.5 + 6 679 c.464C>T c.(463-465)cCa>cTa p.P155L DPY19L3_ENST00000586987.1_Missense_Mutation_p.P155L|DPY19L3_ENST00000392250.2_Missense_Mutation_p.P155L NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 155 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TATTTAGAGCCAGTTTATTTT 0.403000 21 42 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35526319 35526319 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:35526319C>G ENST00000262878.4 - 15 1851 c.1652G>C c.(1651-1653)cGa>cCa p.R551P NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 551 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ACAATATACTCGAATCAGCTG 0.403000 9 164 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43887757 43887757 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:43887757C>G ENST00000562955.1 + 12 1630 c.1630C>G c.(1630-1632)Ctc>Gtc p.L544V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 544 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCCTCAGGTGCTCTCCCTCCA 0.542000 4 50 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576853 7576853 + Splice_Site SNP C C A rs11575996 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:7576853C>A ENST00000420246.2 - 9 1125 c.993_splice c.e9+1 p.Q331_splice TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACTTAGTACCTGAAGGGTGA 0.453000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 56 44 4.33383e-22 5.86583e-22 1 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904063 144904063 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:144904063C>T ENST00000370490.1 + 1 4375 c.120C>T c.(118-120)aaC>aaT p.N40N SLITRK2_ENST00000428560.2_Silent_p.N40N|SLITRK2_ENST00000434188.2_Silent_p.N40N|SLITRK2_ENST00000413937.2_Silent_p.N40N|SLITRK2_ENST00000447897.2_Silent_p.N40N Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 40 integral to membrane p.N40N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) AAAAGGAAAACGTACTGAATA 0.458000 4 34 0 0 1 0 0 SGK494 124923 broad.mit.edu 37 17 26938788 26938788 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:26938788C>T ENST00000301037.5 - 8 718 c.719G>A c.(718-720)cGa>cAa p.R240Q RP11-192H23.4_ENST00000534850.1_3'UTR|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron NM_001174103.1 NP_001167574.1 p.R279Q(1) AGACTTACCTCGTTCATCTAG 0.428000 63 199 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681390 40681390 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:40681390C>T ENST00000302472.3 + 2 1319 c.295C>T c.(295-297)Ctg>Ttg p.L99L PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 99 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CACCTTCATTCTGCTCTTCTT 0.592000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 444 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25543433 25543433 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:25543433A>T ENST00000269141.3 - 15 2825 c.2402T>A c.(2401-2403)aTc>aAc p.I801N CDH2_ENST00000399380.3_Missense_Mutation_p.I770N|AC015933.2_ENST00000423367.1_RNA NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 801 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CACAGGCTTGATGGCATCAGG 0.547000 46 36 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84671526 84671526 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:84671526G>T ENST00000284136.6 - 8 980 c.937C>A c.(937-939)Cct>Act p.P313T NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 313 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TCACTTCCAGGAATTGAGCAA 0.398000 47 220 3.81248e-40 5.55954e-40 1 1 0 ZDHHC11 79844 broad.mit.edu 37 5 825342 825342 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:825342C>T ENST00000283441.8 - 8 1343 c.960G>A c.(958-960)ctG>ctA p.L320L ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.L320L NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 320 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GCTTGTGAATCAGCAGGGAGC 0.552000 30 258 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748096 102748096 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:102748096G>A ENST00000370228.1 + 1 314 c.129G>A c.(127-129)gaG>gaA p.E43E C10orf2_ENST00000311916.2_Silent_p.E43E|C10orf2_ENST00000473656.1_Intron NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 43 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) ACAGGAAGGAGACTCTCCAAG 0.592000 30 104 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53484215 53484215 + RNA SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:53484215G>A ENST00000600068.1 - 0 143 ZNF702P_ENST00000270443.4_RNA AGGAGTTTTTGGAAATCAATC 0.408000 7 15 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261405 49261405 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:49261405C>A ENST00000593756.1 + 4 1130 c.558C>A c.(556-558)ccC>ccA p.P186P FGF21_ENST00000222157.3_Silent_p.P186P Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 186 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCCAGCCCCCCGATGTGGGCT 0.677000 10 23 6.40141e-05 6.82055e-05 1 1 0 TNR 7143 broad.mit.edu 37 1 175365730 175365730 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:175365730G>A ENST00000367674.1 - 5 1898 c.1190C>T c.(1189-1191)gCt>gTt p.A397V TNR_ENST00000263525.2_Missense_Mutation_p.A397V NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 397 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) GCTAATGACAGCGTAGACGCT 0.567000 48 52 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104138963 104138963 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:104138963C>A ENST00000388887.2 + 57 6248 c.6044C>A c.(6043-6045)tCa>tAa p.S2015* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2015 Laminin EGF-like 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTGGCTGCTCAGACCACGGA 0.557000 5 32 0.0293803 0.0299663 1 1 0 ADAM18 8749 broad.mit.edu 37 8 39534965 39534965 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:39534965C>A ENST00000265707.5 + 15 1586 c.1541C>A c.(1540-1542)cCa>cAa p.P514Q ADAM18_ENST00000379866.1_Missense_Mutation_p.P490Q|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 514 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CAAGGTGCTCCATTTGCCTGT 0.323000 15 32 2.32078e-09 2.71517e-09 1 1 0 CHRND 1144 broad.mit.edu 37 2 233394818 233394818 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:233394818G>T ENST00000258385.3 + 7 821 c.789G>T c.(787-789)atG>atT p.M263I CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.G227C|CHRND_ENST00000543200.1_Missense_Mutation_p.M248I NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 263 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCTCCTTCATGGTCAACCTGG 0.632000 29 107 5.77227e-19 7.58339e-19 1 1 0 SLC12A9 56996 broad.mit.edu 37 7 100459371 100459371 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:100459371C>G ENST00000354161.3 + 12 1674 c.1549C>G c.(1549-1551)Ctg>Gtg p.L517V SLC12A9_ENST00000415287.1_Missense_Mutation_p.L428V|SLC12A9_ENST00000540482.1_Missense_Mutation_p.L517V|SLC12A9_ENST00000428758.1_Missense_Mutation_p.L517V|SLC12A9_ENST00000275729.3_Missense_Mutation_p.L428V NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 517 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GCGTAAGTATCTGCTTCGGCT 0.647000 40 168 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614894 247614894 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:247614894A>T ENST00000318749.6 - 1 414 c.391T>A c.(391-393)Tgc>Agc p.C131S NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 131 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) AGGGGCTTGCAGATGGCCACG 0.617000 57 81 0 0 1 0 0 VTN 7448 broad.mit.edu 37 17 26696867 26696867 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:26696867G>A ENST00000226218.4 - 3 808 c.190C>T c.(190-192)Cgc>Tgc p.R64C SEBOX_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 64 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) ACATCCCCGCGAGTCACTGCA 0.602000 20 53 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77724985 77724985 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:77724985C>T ENST00000407578.2 - 47 7281 c.7015G>A c.(7015-7017)Gct>Act p.A2339T MYCBP2_ENST00000544440.2_Missense_Mutation_p.A2301T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2301T|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GAAGATGCAGCTGTTACTGCA 0.418000 43 53 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75757725 75757725 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:75757725G>T ENST00000260113.2 + 5 813 c.634G>T c.(634-636)Gcc>Tcc p.A212S PI15_ENST00000523773.1_Missense_Mutation_p.A212S|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 212 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) ATGCAACTATGCCCCAAAGTA 0.438000 34 27 4.31634e-10 5.09143e-10 1 1 0 GFRAL 389400 broad.mit.edu 37 6 55264013 55264013 + Silent SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:55264013T>C ENST00000340465.2 + 7 1074 c.988T>C c.(988-990)Ttg>Ctg p.L330L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 330 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGCATGGCATTGTATACAAG 0.274000 9 14 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36214038 36214038 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:36214038C>A ENST00000420124.1 + 6 2864 c.2864C>A c.(2863-2865)tCc>tAc p.S955Y KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S955Y TCACTGCCCTCCCATCACGGC 0.652000 19 89 1.33834e-09 1.5709e-09 1 1 0 HOXA6 3203 broad.mit.edu 37 7 27185314 27185314 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:27185314G>C ENST00000222728.3 - 2 689 c.665C>G c.(664-666)cCc>cGc p.P222R HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 CTCCCCGCTGGGCTGCGTGGA 0.622000 54 190 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1914083 1914083 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:1914083C>A ENST00000399161.2 - 13 2493 c.1746G>T c.(1744-1746)ctG>ctT p.L582L MYT1L_ENST00000428368.2_Silent_p.L580L NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 582 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GTGCCTTGGCCAGTTTCTCTG 0.597000 21 116 1.96292e-10 2.31923e-10 1 1 0 ZNF221 7638 broad.mit.edu 37 19 44469212 44469212 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:44469212G>T ENST00000251269.5 + 4 520 c.192G>T c.(190-192)agG>agT p.R64S ZNF221_ENST00000592350.1_Missense_Mutation_p.R64S|ZNF221_ENST00000587682.1_Missense_Mutation_p.R64S NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) AGAACTTCAGGAACCTGCTCT 0.522000 55 268 4.96213e-28 6.99387e-28 1 1 0 CRY1 1407 broad.mit.edu 37 12 107486641 107486641 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:107486641G>A ENST00000008527.5 - 1 966 c.99C>T c.(97-99)tgC>tgT p.C33C CRY1_ENST00000550633.1_5'UTR NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 33 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 GGATGTAGACGCAGCGGATGG 0.617000 OREG0022082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 27 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126333080 126333080 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:126333080C>A ENST00000525144.2 - 6 963 c.714G>T c.(712-714)aaG>aaT p.K238N KIRREL3_ENST00000529097.2_Missense_Mutation_p.K238N|KIRREL3_ENST00000525704.2_Missense_Mutation_p.K238N NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 238 Ig-like C2-type 2. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CCGACGTCTCCTTTCCTCCGG 0.612000 46 28 4.29476e-34 6.1748e-34 1 1 0 SALL3 27164 broad.mit.edu 37 18 76754442 76754442 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:76754442C>G ENST00000536229.3 + 1 2761 c.2052C>G c.(2050-2052)gaC>gaG p.D684E SALL3_ENST00000575389.2_Missense_Mutation_p.D817E|SALL3_ENST00000537592.2_Missense_Mutation_p.D817E Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 817 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGGCCACCGACCCGGCCAAGC 0.642000 16 51 0 0 1 0 0 SMCO3 440087 broad.mit.edu 37 12 14959158 14959158 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:14959158C>G ENST00000316048.2 - 2 529 c.457G>C c.(457-459)Gct>Cct p.A153P C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 CCAATTTGAGCTAACACAGTG 0.468000 19 78 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419623 123419623 + Nonsense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:123419623G>A ENST00000360772.3 - 19 3070 c.2692C>T c.(2692-2694)Cga>Tga p.R898* MYLK_ENST00000359169.1_Nonsense_Mutation_p.R898*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.R898*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.R898*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.R829* Q15746 MYLK_HUMAN myosin light chain kinase 898 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGAGGTCTCGGAAGTCCAGC 0.622000 20 109 0 0 1 0 0 MCL1 4170 broad.mit.edu 37 1 150551334 150551334 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:150551334C>G ENST00000369026.2 - 1 732 c.673G>C c.(673-675)Gag>Cag p.E225Q MCL1_ENST00000307940.3_Missense_Mutation_p.E225Q NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 225 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AAGGCCGTCTCGTGGTTGCGC 0.617000 9 119 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 174168 174168 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:174168G>T ENST00000283426.6 + 16 3339 c.3289G>T c.(3289-3291)Gat>Tat p.D1097Y NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1097 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TGCATGGACCGATGTCATAGG 0.597000 36 8 2.87052e-16 3.64413e-16 1 1 0 C1orf51 148523 broad.mit.edu 37 1 150258955 150258955 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:150258955C>A ENST00000290363.5 + 5 1196 c.747C>A c.(745-747)caC>caA p.H249Q C1orf51_ENST00000369094.1_Missense_Mutation_p.H161Q|C1orf51_ENST00000369095.1_Missense_Mutation_p.H249Q NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 249 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGCCTTGGCACCTCACACAAT 0.512000 52 175 1.63038e-21 2.19427e-21 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124417953 124417953 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:124417953C>A ENST00000409039.3 + 76 13043 c.13018C>A c.(13018-13020)Cag>Aag p.Q4340K CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4340 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGCGCTGGTGCAGGCCACCTG 0.617000 12 39 0.000308642 0.000324029 1 1 0 CTAGE1 64693 broad.mit.edu 37 18 19997444 19997444 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:19997444G>C ENST00000391403.2 - 1 434 c.331C>G c.(331-333)Ctt>Gtt p.L111V NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 111 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TCATGCACAAGTTCAGAATTG 0.373000 17 178 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97158966 97158966 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:97158966C>G ENST00000524981.3 + 27 3604 c.3604C>G c.(3604-3606)Ctt>Gtt p.L1202V Q6ZTY8 CL063_HUMAN 1176 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 TGCTCTGGATCTTTTGTCTTC 0.313000 17 48 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44050043 44050043 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:44050043C>G ENST00000543989.1 - 6 1876 c.171G>C c.(169-171)gaG>gaC p.E57D ABCG5_ENST00000405322.1_Missense_Mutation_p.E281D|ABCG5_ENST00000260645.1_Missense_Mutation_p.E452D Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 452 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CGTCCTGACTCTCCTGGTCGC 0.572000 6 38 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032181 26032181 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:26032181C>T ENST00000244661.2 - 1 107 c.108G>A c.(106-108)gtG>gtA p.V36V NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 36 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GAGGCTTTTTCACGCCGCCGG 0.627000 50 302 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103018580 103018580 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:103018580G>C ENST00000375735.2 + 19 2926 c.2782G>C c.(2782-2784)Gat>Cat p.D928H DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D928H|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 928 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAAGTTATTTGATCTGCTTGT 0.308000 18 41 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70504027 70504027 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:70504027C>G ENST00000433351.2 + 6 1049 c.1021C>G c.(1021-1023)Caa>Gaa p.Q341E PCYOX1_ENST00000505044.2_Missense_Mutation_p.Q264E|PCYOX1_ENST00000545138.1_Missense_Mutation_p.Q263E|PCYOX1_ENST00000264441.5_Intron NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 341 Q -> H (in Ref. 1; AAF16937). prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 TCAATATTATCAACATATAGT 0.353000 11 39 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107808783 107808783 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:107808783G>C ENST00000379028.3 - 29 3722 c.3252C>G c.(3250-3252)atC>atG p.I1084M NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.I1084M|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.I1084M Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1084 Fibronectin type-III 5. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 ATTCCCAACTGATATTGGCAT 0.378000 15 50 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030302 95030302 + Silent SNP C C T rs141982763 byFrequency TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:95030302C>T ENST00000557004.1 + 2 904 c.483C>T c.(481-483)gcC>gcT p.A161A SERPINA4_ENST00000298841.5_Silent_p.A161A|SERPINA4_ENST00000555095.1_Silent_p.A161A|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 161 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) ACACCATGGCCGTCTATGAGG 0.522000 38 108 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925520 27925520 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:27925520C>A ENST00000244623.1 + 1 502 c.502C>A c.(502-504)Ctc>Atc p.L168I NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCAGCTGCCACTCTGTGACCC 0.483000 91 156 1.7318e-42 2.54092e-42 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768521 31768521 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:31768521C>A ENST00000240587.4 - 2 2505 c.2178G>T c.(2176-2178)caG>caT p.Q726H NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 726 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCATGACTGACTGCAGGGCGC 0.592000 30 105 3.73148e-12 4.52837e-12 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367791 145367791 + Missense_Mutation SNP G G A rs78046651 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:145367791G>A ENST00000342960.5 + 83 10422 c.10387G>A c.(10387-10389)Ggg>Agg p.G3463R NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3463 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) aagaaaagaaggggaagaaga 0.433000 27 90 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168114084 168114084 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:168114084C>G ENST00000519560.1 - 30 3633 c.3214G>C c.(3214-3216)Gag>Cag p.E1072Q SLIT3_ENST00000332966.8_Missense_Mutation_p.E1079Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1072Q NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1072 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGTCTGTCTCACAGAGCTTC 0.597000 13 32 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63486520 63486520 + Silent SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:63486520A>G ENST00000377819.5 + 3 700 c.546A>G c.(544-546)aaA>aaG p.K182K RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.K70K|RTN3_ENST00000339997.4_Silent_p.K163K|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 182 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AAATAGATAAAGAGACCAAGA 0.453000 43 50 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189917494 189917494 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:189917494C>T ENST00000374866.3 - 40 2970 c.2696G>A c.(2695-2697)cGa>cAa p.R899Q NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 899 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTGGGTTCCTCGACCACCTTT 0.408000 8 22 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169174499 169174499 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:169174499C>A ENST00000256935.8 + 23 2447 c.2367C>A c.(2365-2367)atC>atA p.I789I DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.I281I NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 789 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAACTACCATCCTTTTGCAGG 0.353000 23 27 7.87624e-14 9.72309e-14 1 1 0 CD22 933 broad.mit.edu 37 19 35827111 35827111 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:35827111C>G ENST00000085219.5 + 4 651 c.585C>G c.(583-585)atC>atG p.I195M CD22_ENST00000270311.6_Missense_Mutation_p.I75M|CD22_ENST00000594250.1_Missense_Mutation_p.I195M|CD22_ENST00000544992.2_Missense_Mutation_p.I195M|CD22_ENST00000536635.2_Missense_Mutation_p.I195M|CD22_ENST00000419549.2_Missense_Mutation_p.I23M|CD22_ENST00000341773.6_Missense_Mutation_p.I195M NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 195 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCTTGACCATCAAGTCTGTCT 0.547000 23 70 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656711 240656711 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:240656711C>T ENST00000318160.4 - 2 331 c.65G>A c.(64-66)cGg>cAg p.R22Q NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 22 BMP signaling pathway extracellular space cytokine activity p.R22L(1) endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CCGGTTCTTCCGGGCTTCCGC 0.617000 6 26 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143033725 143033725 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:143033725C>G ENST00000513000.1 - 23 2679 c.2246G>C c.(2245-2247)gGa>gCa p.G749A INPP4B_ENST00000262992.4_Missense_Mutation_p.G749A|INPP4B_ENST00000308502.4_Missense_Mutation_p.G749A|INPP4B_ENST00000508116.1_Missense_Mutation_p.G749A|INPP4B_ENST00000509777.1_Missense_Mutation_p.G749A NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 749 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity 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) TTCATTGATTCCAACATTAAA 0.403000 34 75 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113269860 113269860 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:113269860G>A ENST00000303941.3 + 8 1263 c.1169G>A c.(1168-1170)tGc>tAc p.C390Y NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 390 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GACGTGGACTGCCAGACGGCC 0.622000 5 18 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48713447 48713447 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:48713447G>A ENST00000314191.2 - 72 10076 c.10020C>T c.(10018-10020)ctC>ctT p.L3340L PRKDC_ENST00000338368.3_Silent_p.L3340L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3341 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCTCACTGCTGAGAGCATTCG 0.448000 Non-homologous end-joining 8 35 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48602875 48602875 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:48602875G>T ENST00000328333.8 - 115 8602 c.8495C>A c.(8494-8496)cCt>cAt p.P2832H COL7A1_ENST00000454817.1_Missense_Mutation_p.P2800H NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2832 Nonhelical region (NC2). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCGGAGCACAGGCACAGCATG 0.632000 3 14 0.004672 0.00479936 1 1 0 TRIM10 10107 broad.mit.edu 37 6 30127012 30127012 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:30127012T>C ENST00000449742.2 - 2 515 c.440A>G c.(439-441)cAt>cGt p.H147R TRIM10_ENST00000376704.3_Missense_Mutation_p.H147R NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 147 cytoplasm zinc ion binding ovary(1) 1 AAGACACTTATGGATTTGTTC 0.403000 21 35 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91943612 91943612 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:91943612C>G ENST00000375807.3 + 5 683 c.612C>G c.(610-612)atC>atG p.I204M SECISBP2_ENST00000534113.2_Missense_Mutation_p.I136M|SECISBP2_ENST00000339901.4_Missense_Mutation_p.I131M|SECISBP2_ENST00000470305.1_3'UTR NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 204 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 AATCCAGAATCATTGCAAAAA 0.353000 21 39 0 0 1 0 0 YES1 7525 broad.mit.edu 37 18 736907 736907 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:736907G>A ENST00000584307.1 - 10 1362 c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W YES1_ENST00000314574.4_Missense_Mutation_p.R398W|YES1_ENST00000577961.1_Missense_Mutation_p.R403W|RP11-769O8.1_ENST00000583314.1_RNA P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 398 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) TTAGCAGCCCGAAGATCTCGG 0.363000 10 49 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155534576 155534576 + Missense_Mutation SNP A A C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:155534576A>C ENST00000401878.3 + 13 2311 c.2113A>C c.(2113-2115)Aac>Cac p.N705H NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 705 nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGCGCCAAGGAACAGCAATTT 0.483000 79 104 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 637808 637808 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:637808G>T ENST00000230449.4 - 2 146 c.11C>A c.(10-12)tCa>tAa p.S4* EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 4 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GGGTTGTCGTGATCGAGACAT 0.478000 20 171 1.9806e-07 2.20889e-07 1 1 0 CDHR3 222256 broad.mit.edu 37 7 105672972 105672972 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:105672972G>C ENST00000542731.1 + 19 2595 c.2487G>C c.(2485-2487)ggG>ggC p.G829G CDHR3_ENST00000317716.9_Silent_p.G829G|CDHR3_ENST00000478080.1_Silent_p.G741G|CDHR3_ENST00000343407.5_3'UTR Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 829 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CTGGGGAAGGGATGGGGTCAC 0.562000 7 50 0 0 1 0 0 ABCB10 23456 broad.mit.edu 37 1 229661692 229661692 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:229661692G>C ENST00000344517.4 - 10 1939 c.1897C>G c.(1897-1899)Ctc>Gtc p.L633V NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 633 ABC transporter. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CCTGAGAGGAGAACACCCTTT 0.423000 116 318 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174423 51174423 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:51174423G>A ENST00000440970.1 - 2 1850 c.1419C>T c.(1417-1419)atC>atT p.I473I SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.I570I NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 570 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTTCCGTCTTGATGAAGGGTA 0.607000 19 59 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98986505 98986505 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:98986505C>A ENST00000393504.1 + 2 484 c.67C>A c.(67-69)Cga>Aga p.R23R CNGA3_ENST00000436404.2_Silent_p.R23R|CNGA3_ENST00000272602.2_Silent_p.R23R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 23 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GACCTCAGACCGAGATCTCAA 0.507000 4 44 0.150653 0.152141 1 1 0 CHIT1 1118 broad.mit.edu 37 1 203194929 203194929 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:203194929A>T ENST00000367229.1 - 3 159 c.125T>A c.(124-126)cTg>cAg p.L42Q CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.L52Q|CHIT1_ENST00000255427.3_Missense_Mutation_p.L42Q NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 42 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GTCCTTGGGCAGGAAGCGAGC 0.577000 15 68 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947325 237947325 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:237947325C>G ENST00000366574.2 + 90 12630 c.12313C>G c.(12313-12315)Ctc>Gtc p.L4105V RYR2_ENST00000542537.1_Missense_Mutation_p.L4089V|RYR2_ENST00000360064.6_Missense_Mutation_p.L4111V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4105 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTGACAAACCTCTCTGAGCA 0.512000 32 32 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189864205 189864205 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:189864205G>T ENST00000304636.3 + 31 2301 c.2131G>T c.(2131-2133)Ggt>Tgt p.G711C COL3A1_ENST00000317840.5_Missense_Mutation_p.G711C NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 711 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGGTGCTGCTGGTCCTCCTGG 0.468000 26 72 1.61788e-16 2.06121e-16 1 1 0 TUBA4B 80086 broad.mit.edu 37 2 220136644 220136644 + RNA SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:220136644G>A ENST00000490341.1 + 0 1114 NR_003063.1 TGTGCATGCTGAGCAACATGA 0.557000 11 21 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 59 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216462 20216462 + Silent SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:20216462T>C ENST00000331723.1 + 1 876 c.876T>C c.(874-876)aaT>aaC p.N292N NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 292 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) CACTCAGAAATACTGATATGA 0.403000 20 59 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17837133 17837133 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:17837133G>A ENST00000324096.4 + 5 1091 c.940G>A c.(940-942)Gag>Aag p.E314K MAP1S_ENST00000544059.2_Missense_Mutation_p.E288K|MAP1S_ENST00000597681.1_Intron NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 314 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 GGAGCGCTCCGAGGTGGCTGC 0.716000 7 29 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200114 128200114 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:128200114G>T ENST00000341105.2 - 6 1522 c.1191C>A c.(1189-1191)aaC>aaA p.N397K GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.N383K|GATA2_ENST00000487848.1_Missense_Mutation_p.N397K NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 397 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) ACATCTTCCGGTTCCGAGTCT 0.532000 Mis AML(CML blast transformation) 61 64 2.60599e-31 3.70216e-31 1 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72054985 72054985 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:72054985G>T ENST00000555818.1 + 2 744 c.396G>T c.(394-396)ctG>ctT p.L132L SIPA1L1_ENST00000381232.3_Silent_p.L132L|SIPA1L1_ENST00000358550.2_Silent_p.L132L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 132 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CAGCCATGCTGAAAAGCATAC 0.478000 45 143 1.76056e-25 2.44769e-25 1 1 0 CATSPER4 378807 broad.mit.edu 37 1 26517184 26517184 + Silent SNP C C A rs146583262 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:26517184C>A ENST00000456354.2 + 1 133 c.66C>A c.(64-66)ggC>ggA p.G22G NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 22 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) AGGGGTGGGGCGGGACTCAGG 0.592000 21 29 1.9806e-07 2.20889e-07 1 1 0 NEB 4703 broad.mit.edu 37 2 152544853 152544853 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:152544853C>A ENST00000397345.3 - 25 2570 c.2368G>T c.(2368-2370)Gct>Tct p.A790S NEB_ENST00000603639.1_Missense_Mutation_p.A790S|NEB_ENST00000172853.10_Missense_Mutation_p.A790S|NEB_ENST00000427231.2_Missense_Mutation_p.A790S|NEB_ENST00000409198.1_Missense_Mutation_p.A790S|NEB_ENST00000604864.1_Missense_Mutation_p.A790S NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 790 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 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) AACTGTGGAGCATCTGCTGGT 0.388000 7 23 8.12818e-05 8.6219e-05 1 1 0 CHD6 84181 broad.mit.edu 37 20 40033717 40033717 + Nonsense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:40033717G>C ENST00000373233.3 - 37 7841 c.7664C>G c.(7663-7665)tCa>tGa p.S2555* CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2555 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CGTTGTGCTTGATAGAGACGC 0.547000 44 210 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212040 131212040 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:131212040C>G ENST00000298542.4 - 12 2180 c.2005G>C c.(2005-2007)Gaa>Caa p.E669Q FRMD7_ENST00000370879.1_Missense_Mutation_p.E549Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.E654Q NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 669 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) GACCTTATTTCTTTGCCATAC 0.403000 41 47 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108110687 108110687 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:108110687C>T ENST00000374720.3 + 5 702 c.455C>T c.(454-456)tCt>tTt p.S152F SLC44A1_ENST00000374723.1_Missense_Mutation_p.S152F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S152F NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 152 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) TACACTACATCTCCAAAATCT 0.368000 21 56 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934683 4934683 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:4934683G>C ENST00000345988.2 - 22 4062 c.3973C>G c.(3973-3975)Ctg>Gtg p.L1325V PPL_ENST00000590782.2_Missense_Mutation_p.L1323V NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1325 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCCCTCTCCAGATCCACTTGT 0.567000 88 262 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41051129 41051129 + Missense_Mutation SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:41051129T>G ENST00000399564.4 - 13 1744 c.1294A>C c.(1294-1296)Agc>Cgc p.S432R MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACCTCAAGGCTTGTTTCTCGG 0.398000 4 27 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76262705 76262705 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:76262705C>G ENST00000263187.3 + 1 139 c.35C>G c.(34-36)tCt>tGt p.S12C NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 12 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ACCTCGCCTTCTGCCCCGGCG 0.607000 Mismatch excision repair (MMR) 27 99 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34051075 34051075 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:34051075G>C ENST00000382499.2 - 12 1506 c.1507C>G c.(1507-1509)Cag>Gag p.Q503E SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464E|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503E|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467E|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464E NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 464 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AAGTTATTCTGAATTGTTCGG 0.378000 27 81 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228479859 228479859 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:228479859A>T ENST00000570156.2 + 44 11961 c.11887A>T c.(11887-11889)Agg>Tgg p.R3963W OBSCN_ENST00000422127.1_Missense_Mutation_p.R3534W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3534W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R653W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R653W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2381W NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3001 Ig-like 40. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTCACCATCAGGGGTAAAGA 0.592000 30 105 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139835622 139835622 + Splice_Site SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:139835622C>T ENST00000325285.3 - 9 1538 c.1457_splice c.e9-1 p.G487_splice FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 487 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) TCCTCCGCCCCGCTGCAGAAC 0.697000 7 19 0 0 1 0 0 CYP4V2 285440 broad.mit.edu 37 4 187126445 187126445 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:187126445A>G ENST00000378802.4 + 8 1383 c.1079A>G c.(1078-1080)gAt>gGt p.D360G CYP4V2_ENST00000502665.1_3'UTR NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 360 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) CATGAATTGGATGACGTGTTT 0.438000 21 61 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117618900 117618900 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:117618900C>A ENST00000369466.3 + 6 1418 c.1374C>A c.(1372-1374)acC>acA p.T458T NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 458 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GTGGTCTTACCCTTTCCCCAG 0.473000 33 35 2.61193e-14 3.22995e-14 1 1 0 ZNF318 24149 broad.mit.edu 37 6 43307776 43307776 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:43307776G>C ENST00000361428.2 - 10 4037 c.3960C>G c.(3958-3960)atC>atG p.I1320M ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1320 Lys-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTTGATTTTGATAGGCTTTG 0.448000 61 188 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 7 108 1.76689e-08 2.0274e-08 1 1 0 KRT83 3889 broad.mit.edu 37 12 52715051 52715051 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:52715051G>A ENST00000293670.3 - 1 131 c.69C>T c.(67-69)tgC>tgT p.C23C NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 23 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCGGGGCCCGCAGGCAGAGA 0.657000 40 101 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821925 21821925 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:21821925C>G ENST00000216297.2 - 24 3195 c.2857G>C c.(2857-2859)Gat>Cat p.D953H NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 953 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCATAGTCATCTTCTGAAGGA 0.403000 18 52 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2825402 2825402 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:2825402C>T ENST00000381154.1 - 10 1767 c.1692G>A c.(1690-1692)atG>atA p.M564I NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 564 M -> T (in dbSNP:rs2228431). lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 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) GGATGTTGCTCATGGAAAACT 0.627000 7 32 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51306816 51306816 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:51306816C>A ENST00000522124.1 + 3 679 c.18C>A c.(16-18)gcC>gcA p.A6A SNTG1_ENST00000518864.1_Silent_p.A6A|SNTG1_ENST00000517473.1_Silent_p.A6A|SNTG1_ENST00000276467.5_Silent_p.A6A NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 6 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCAGAACCGCCTGTGAGGAGG 0.438000 13 18 0.000151284 0.000159764 1 1 0 OR4K2 390431 broad.mit.edu 37 14 20345371 20345371 + Nonstop_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:20345371G>T ENST00000298642.2 + 1 981 c.945G>T c.(943-945)taG>taT p.*315Y NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCCTTCATAGTTTTTGTGAC 0.348000 9 21 0.000274275 0.000288371 1 1 0 PRMT6 55170 broad.mit.edu 37 1 107599740 107599740 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:107599740G>T ENST00000361318.5 + 1 474 c.226G>T c.(226-228)Gtc>Ttc p.V76F PRMT6_ENST00000370078.1_Missense_Mutation_p.V135F NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 135 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) CCGGGTGCACGTCCTGCCGGG 0.677000 10 155 0.000673444 0.000699834 1 1 0 PHKA1 5255 broad.mit.edu 37 X 71895994 71895994 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:71895994C>A ENST00000373545.3 - 6 982 c.544G>T c.(544-546)Ggg>Tgg p.G182W PHKA1_ENST00000373539.3_Missense_Mutation_p.G182W|PHKA1_ENST00000339490.3_Missense_Mutation_p.G182W|PHKA1_ENST00000373542.4_Missense_Mutation_p.G182W|PHKA1_ENST00000541944.1_Missense_Mutation_p.G182W P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 182 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TCCCATATCCCGAAGTCCTGG 0.393000 18 25 1.50039e-11 1.79946e-11 1 1 0 PRKAA2 5563 broad.mit.edu 37 1 57140146 57140146 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:57140146C>T ENST00000371244.4 + 2 253 c.187C>T c.(187-189)Cga>Tga p.R63* NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 63 Protein kinase. 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 AAAAATAAAACGAGAAATTCA 0.294000 31 47 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36334379 36334379 + Nonsense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:36334379T>A ENST00000378910.5 - 17 2328 c.2329A>T c.(2329-2331)Aga>Tga p.R777* NPHS1_ENST00000353632.6_Nonsense_Mutation_p.R777* NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 777 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCACCAGTCTCTCCCAGTTG 0.557000 51 216 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168014234 168014234 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:168014234C>G ENST00000367840.3 + 16 2121 c.2027C>G c.(2026-2028)tCt>tGt p.S676C DCAF6_ENST00000367843.3_Missense_Mutation_p.S619C|DCAF6_ENST00000312263.6_Missense_Mutation_p.S599C|DCAF6_ENST00000432587.2_Missense_Mutation_p.S645C NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 603 IQ. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 CCAGAAGAATCTGCTTCATCT 0.438000 38 164 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662628 227662628 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:227662628C>A ENST00000305123.4 - 1 1847 c.827G>T c.(826-828)tGc>tTc p.C276F NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 276 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGGTTAGAGCAGTTGGACGA 0.642000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 82 9.86323e-18 1.27936e-17 1 1 0 NDUFS4 4724 broad.mit.edu 37 5 52979051 52979051 + Nonstop_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:52979051G>T ENST00000296684.5 + 5 556 c.528G>T c.(526-528)taG>taT p.*176Y NM_002495.2 NP_002486.1 O43181 NDUS4_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 0 brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3) 10 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) CCACAAAATAGGTTGGCACTG 0.363000 16 61 6.31663e-08 7.08888e-08 1 1 0 RAB9BP1 9366 broad.mit.edu 37 5 104435390 104435390 + RNA SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:104435390G>T ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TCTGAAGCCTGAGGATGCCAT 0.403000 27 44 1.77063e-15 2.21252e-15 1 1 0 KLHL36 79786 broad.mit.edu 37 16 84690886 84690886 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:84690886A>G ENST00000564996.1 + 3 614 c.473A>G c.(472-474)tAc>tGc p.Y158C KLHL36_ENST00000258157.5_Missense_Mutation_p.Y158C NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 158 BACK. endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GCCTCCATCTACAGCCTCAAG 0.572000 48 38 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52865455 52865455 + Splice_Site SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:52865455C>A ENST00000252250.6 - 3 864 c.e3+1 NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CATCTGCTCACCTTCTTCAGA 0.483000 25 132 8.24728e-16 1.03962e-15 1 1 0 SLC35D2 11046 broad.mit.edu 37 9 99114339 99114339 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:99114339G>A ENST00000253270.7 - 5 462 c.400C>T c.(400-402)Ctg>Ttg p.L134L SLC35D2_ENST00000375259.4_Silent_p.L134L|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Silent_p.L134L NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 134 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) ATGGTTTCCAGAAGTAAGGTA 0.453000 7 30 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29093099 29093099 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:29093099C>A ENST00000306108.5 - 1 68 c.45G>T c.(43-45)cgG>cgT p.R15R NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 15 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 CGAGCCCCTGCCGCAGGCACA 0.637000 6 53 0.217242 0.218156 1 1 0 SMG1 23049 broad.mit.edu 37 16 18887446 18887446 + Splice_Site SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:18887446C>G ENST00000446231.2 - 13 2302 c.1890_splice c.e13+1 p.G630_splice SMG1_ENST00000389467.3_Splice_Site_p.G630_splice|SMG1_ENST00000565224.1_Silent_p.G604G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 630 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AAAGACTCACCCCTATTAGTG 0.333000 9 108 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038926 11038926 + RNA SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:11038926C>G ENST00000470054.1 - 0 1277 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GACACATCTGCCTTGCTTATG 0.428000 13 485 0 0 1 0 0 MYPOP 339344 broad.mit.edu 37 19 46393992 46393992 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:46393992C>A ENST00000322217.5 - 3 1175 c.1089G>T c.(1087-1089)gaG>gaT p.E363D NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 363 Pro-rich. nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 GGGGTGCCCCCTCCTCGCTCC 0.687000 5 10 0.000602214 0.00062855 1 1 0 INSC 387755 broad.mit.edu 37 11 15170756 15170756 + Silent SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:15170756C>G ENST00000379554.3 + 2 223 c.177C>G c.(175-177)tcC>tcG p.S59S INSC_ENST00000530161.1_Silent_p.S12S|INSC_ENST00000424273.1_Silent_p.S12S|INSC_ENST00000379556.3_Silent_p.S12S|INSC_ENST00000525218.1_Silent_p.S12S|INSC_ENST00000528567.1_Silent_p.S12S NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 59 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 ACCTGGACTCCGTCACCCTGC 0.607000 6 50 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50122166 50122166 + Missense_Mutation SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:50122166T>G ENST00000374160.3 - 1 111 c.35A>C c.(34-36)aAg>aCg p.K12T WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.K12T|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 12 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GAGGGTGATCTTCTTGCCCTT 0.438000 4 47 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 727622 727622 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:727622G>T ENST00000264560.7 + 4 391 c.197G>T c.(196-198)gGg>gTg p.G66V PALM_ENST00000338448.5_Missense_Mutation_p.G66V|PALM_ENST00000606643.1_3'UTR NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 66 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) GCCTCAGAGGGGGATGAGGAC 0.682000 7 5 8.12818e-05 8.6219e-05 1 1 0 TNR 7143 broad.mit.edu 37 1 175365914 175365914 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:175365914C>T ENST00000367674.1 - 5 1714 c.1006G>A c.(1006-1008)Ggt>Agt p.G336S TNR_ENST00000263525.2_Missense_Mutation_p.G336S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 336 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) TCGCTGATACCAGCCACTCGC 0.577000 59 87 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103032181 103032181 + Splice_Site SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:103032181T>C ENST00000306312.3 - 11 1382 c.1119_splice c.e11-1 p.E374_splice SLC26A5_ENST00000432958.2_Splice_Site_p.E374_splice|SLC26A5_ENST00000393723.1_Splice_Site_p.E374_splice|SLC26A5_ENST00000393727.1_Splice_Site_p.E374_splice|SLC26A5_ENST00000393730.1_Splice_Site_p.E374_splice|SLC26A5_ENST00000393735.2_Splice_Site_p.E374_splice|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Splice_Site_p.E374_splice|SLC26A5_ENST00000393729.1_Splice_Site_p.E337_splice NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 374 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 GGCAATGAGCTCCTTTCCCAT 0.433000 9 21 0 0 1 0 0 CD36 948 broad.mit.edu 37 7 80302097 80302097 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:80302097C>T ENST00000435819.1 + 15 1821 c.1137C>T c.(1135-1137)ttC>ttT p.F379F CD36_ENST00000447544.2_Silent_p.F379F|CD36_ENST00000394788.3_Silent_p.F379F|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000534394.1_Silent_p.F303F|CD36_ENST00000538969.1_Silent_p.F319F|CD36_ENST00000432207.1_Silent_p.F379F|CD36_ENST00000433696.2_Silent_p.F340F|CD36_ENST00000309881.7_Silent_p.F379F P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 379 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TAACTGGATTCACTTTACAAT 0.299000 9 36 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 970201 970201 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:970201A>T ENST00000537687.1 + 7 2286 c.1643A>T c.(1642-1644)gAa>gTa p.E548V WNK1_ENST00000340908.4_Missense_Mutation_p.E141V|WNK1_ENST00000535572.1_Missense_Mutation_p.E548V|WNK1_ENST00000530271.2_Missense_Mutation_p.E548V|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.E548V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 548 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TATGTCTGTGAAGGTGATCAC 0.438000 162 128 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74921144 74921144 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:74921144G>T ENST00000569840.2 + 9 1696 c.1122G>T c.(1120-1122)atG>atT p.M374I MGAT5B_ENST00000428789.2_Missense_Mutation_p.M385I|MGAT5B_ENST00000301618.4_Missense_Mutation_p.M374I NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 374 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGCAGCAGATGAAGCGGCACA 0.632000 68 53 1.02016e-41 1.49373e-41 1 1 0 IQSEC2 23096 broad.mit.edu 37 X 53285034 53285034 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:53285034G>C ENST00000396435.3 - 3 1147 c.947C>G c.(946-948)tCc>tGc p.S316C IQSEC2_ENST00000375365.2_Missense_Mutation_p.S111C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S306C NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 306 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 TAGGGCCTTGGAGCGCTTTAT 0.622000 5 23 0 0 1 0 0 KCNS3 3790 broad.mit.edu 37 2 18113308 18113308 + Missense_Mutation SNP G G T rs143152428 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:18113308G>T ENST00000403915.1 + 3 1484 c.1033G>T c.(1033-1035)Gtg>Ttg p.V345L KCNS3_ENST00000304101.4_Missense_Mutation_p.V345L|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 345 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TATCTACTCCGTGGAGAAAGA 0.537000 60 150 7.91745e-34 1.13605e-33 1 1 0 RYR3 6263 broad.mit.edu 37 15 34018635 34018635 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:34018635C>T ENST00000389232.4 + 46 7031 c.6961C>T c.(6961-6963)Cgc>Tgc p.R2321C RYR3_ENST00000415757.3_Missense_Mutation_p.R2321C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2321 4 X approximate repeats. 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) GTCCATCCTGCGCTCCCTGGT 0.552000 3 9 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53885016 53885016 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:53885016T>C ENST00000467003.1 + 4 1277 c.1076T>C c.(1075-1077)aTg>aCg p.M359T ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.M395T|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.M113T zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 TTCAGTCATATGTCAACCCTT 0.378000 16 40 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34072277 34072277 + Nonsense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:34072277G>C ENST00000382499.2 - 4 466 c.467C>G c.(466-468)tCa>tGa p.S156* SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.S117*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.S156*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.S117*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.S117* NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 117 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CCGCACTTCTGAAATGCGATC 0.383000 9 47 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155744857 155744857 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:155744857C>T ENST00000437809.1 - 17 2408 c.2286G>A c.(2284-2286)ctG>ctA p.L762L GON4L_ENST00000361040.5_Silent_p.L762L|GON4L_ENST00000271883.5_Silent_p.L762L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.L762L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 762 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGTCTTCAATCAGCTGCATAG 0.463000 10 72 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22747878 22747878 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:22747878C>T ENST00000454584.2 + 4 613 c.308C>T c.(307-309)cCc>cTc p.P103L GAS2_ENST00000433790.1_Missense_Mutation_p.P103L|GAS2_ENST00000278187.3_Missense_Mutation_p.P103L NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 103 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 ACCAGTGCACCCTCGGGCTCC 0.408000 77 59 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69875930 69875930 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:69875930C>T ENST00000359154.2 + 6 583 c.482C>T c.(481-483)tCa>tTa p.S161L WWP2_ENST00000448661.1_Missense_Mutation_p.S161L|WWP2_ENST00000569174.1_Missense_Mutation_p.S161L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.S161L|WWP2_ENST00000542271.1_Missense_Mutation_p.S45L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 161 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTCTAGGATCACAGCTGCCT 0.512000 4 9 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110778187 110778187 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:110778187G>C ENST00000368919.3 - 2 153 c.87C>G c.(85-87)ttC>ttG p.F29L SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.F29L|SLC22A16_ENST00000456137.2_Missense_Mutation_p.F29L|SLC22A16_ENST00000330550.4_Missense_Mutation_p.F27L NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 29 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AGATGTTCTGGAAGGCACATA 0.423000 27 97 0 0 1 0 0 APOPT1 84334 broad.mit.edu 37 14 104056611 104056611 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:104056611G>A ENST00000409074.2 + 5 610 c.609G>A c.(607-609)aaG>aaA p.K203K RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_Silent_p.K190K NM_032374.3 NP_115750.2 apoptogenic 1, mitochondrial AACAAAAGAAGAGGAGCAACT 0.483000 35 97 0 0 1 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176070735 176070735 + Splice_Site SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:176070735C>A ENST00000318682.6 + 5 880 c.296_splice c.e5+1 p.A99_splice EIF4E1B_ENST00000504597.1_Splice_Site_p.A99_splice NM_001099408.1 NP_001092878.1 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E family member 1B 99 EIF4EBP1/2/3 binding (By similarity). regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACTTCTGGGCGTGAGTGTCT 0.627000 6 7 5.9392e-07 6.56245e-07 1 1 0 CTSB 1508 broad.mit.edu 37 8 11703195 11703195 + Silent SNP G G C rs147857910 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:11703195G>C ENST00000353047.6 - 9 1150 c.897C>G c.(895-897)tcC>tcG p.S299S CTSB_ENST00000530640.2_Silent_p.S299S|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Silent_p.S299S|CTSB_ENST00000534510.1_Silent_p.S299S|CTSB_ENST00000453527.2_Silent_p.S299S|CTSB_ENST00000345125.3_Silent_p.S299S|CTSB_ENST00000434271.1_Silent_p.S299S|CTSB_ENST00000533455.1_Silent_p.S299S NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 299 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CAGTGTTCCAGGAGTTGGCAA 0.587000 15 30 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40174644 40174644 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:40174644G>T ENST00000309930.5 + 1 70 c.46G>T c.(46-48)Gca>Tca p.A16S C7orf10_ENST00000335693.4_Missense_Mutation_p.A16S|C7orf10_ENST00000540834.1_Missense_Mutation_p.A9S|C7orf10_ENST00000401647.2_Missense_Mutation_p.A16S NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 16 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 GGCGAGGGTGGCAGCTCTGCG 0.726000 3 7 0.184627 0.185926 1 1 0 KAT6A 7994 broad.mit.edu 37 8 41791831 41791831 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:41791831C>A ENST00000396930.3 - 18 4450 c.3907G>T c.(3907-3909)Gat>Tat p.D1303Y KAT6A_ENST00000406337.1_Missense_Mutation_p.D1303Y|KAT6A_ENST00000265713.2_Missense_Mutation_p.D1303Y NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1303 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GCAGCTGCAtcttcctcctcc 0.567000 36 124 1.06647e-15 1.33729e-15 1 1 0 USP40 55230 broad.mit.edu 37 2 234460097 234460097 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:234460097C>T ENST00000251722.6 - 7 879 c.762G>A c.(760-762)gtG>gtA p.V254V USP40_ENST00000450966.1_Silent_p.V266V|USP40_ENST00000427112.2_Silent_p.V254V Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 254 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GTTCGCATTTCACAAAATCAA 0.318000 3 26 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484791 43484791 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:43484791G>C ENST00000395891.1 + 11 2625 c.2020G>C c.(2020-2022)Gac>Cac p.D674H HECW1_ENST00000453890.1_Missense_Mutation_p.D674H NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 674 Cys-rich. 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 CGAGGGCTGTGACGCGTCCTG 0.687000 4 60 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32582528 32582528 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:32582528C>A ENST00000286827.3 - 12 2692 c.2221G>T c.(2221-2223)Gag>Tag p.E741* TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E716* NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 741 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ACTTCTTTCTCCCTCTATAAC 0.478000 31 94 8.88839e-20 1.17419e-19 1 1 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847262 32847262 + RNA SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:32847262G>C ENST00000420261.1 - 0 363 TCTTGTTCCTGAACCTGATAC 0.443000 5 16 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151131057 151131057 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:151131057T>A ENST00000370325.1 - 4 454 c.401A>T c.(400-402)aAc>aTc p.N134I GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.N134I P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 134 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AAAGGTGTCGTTGTAACAGAG 0.488000 48 61 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35428396 35428396 + Splice_Site SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:35428396G>T ENST00000229769.2 + 8 1568 c.e8+1 NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 AGAGCGGCAGGTGAGCAGGCT 0.557000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 30 63 1.08312e-15 1.35579e-15 1 1 0 MAP2K6 5608 broad.mit.edu 37 17 67521065 67521065 + Silent SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:67521065C>G ENST00000590474.1 + 9 974 c.687C>G c.(685-687)ctC>ctG p.L229L MAP2K6_ENST00000589647.1_Silent_p.L173L NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 229 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) ACCCAGAGCTCAACCAGAAGG 0.438000 12 51 0 0 1 0 0 CNRIP1 25927 broad.mit.edu 37 2 68544205 68544205 + Nonstop_Mutation SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:68544205T>G ENST00000409862.1 - 3 595 c.414A>C c.(412-414)taA>taC p.*138Y CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000263655.3_Intron|CNRIP1_ENST00000409559.3_Intron Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 0 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 ACACCTTTTCTTACAGAGAGA 0.423000 4 52 0 0 1 0 0 RNASE2 6036 broad.mit.edu 37 14 21423973 21423973 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:21423973C>T ENST00000304625.2 + 2 133 c.43C>T c.(43-45)Ctg>Ttg p.L15L NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 15 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TCTGCTTCTTCTGTTGGGGCT 0.463000 52 120 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995163 140995163 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:140995163C>A ENST00000285879.4 + 4 2259 c.1973C>A c.(1972-1974)tCt>tAt p.S658Y MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 658 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTGTCCAGTCTCCTCTCCAT 0.592000 HNSCC(15;0.026) 97 163 2.24395e-52 3.30591e-52 1 1 0 PPL 5493 broad.mit.edu 37 16 4934911 4934911 + Nonsense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:4934911G>A ENST00000345988.2 - 22 3834 c.3745C>T c.(3745-3747)Cag>Tag p.Q1249* PPL_ENST00000590782.2_Nonsense_Mutation_p.Q1247* NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1249 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CTGAGCCGCTGAAGCTCCTTC 0.527000 52 110 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44199767 44199767 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:44199767C>G ENST00000393841.1 + 11 1388 c.897C>G c.(895-897)atC>atG p.I299M SLC29A1_ENST00000371731.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.I299M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.I378M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.I299M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000371740.5_Missense_Mutation_p.I299M NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 299 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TCTGCTTCATCTTCACTATCA 0.522000 11 74 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14708874 14708874 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:14708874C>A ENST00000218075.4 + 8 1503 c.973C>A c.(973-975)Ctt>Att p.L325I GLRA2_ENST00000355020.4_Missense_Mutation_p.L325I|GLRA2_ENST00000443437.2_Missense_Mutation_p.L236I NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 325 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GGCGGTGTGCCTTCTGTTTGT 0.502000 13 46 2.27111e-07 2.52502e-07 1 1 0 FAM83F 113828 broad.mit.edu 37 22 40417511 40417511 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:40417511T>A ENST00000333407.5 + 4 1091 c.997T>A c.(997-999)Tgc>Agc p.C333S FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 333 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 GGTGTCAGGCTGCCGCCACCC 0.687000 18 64 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1563743 1563743 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:1563743C>G ENST00000572621.1 - 29 5033 c.4768G>C c.(4768-4770)Gtt>Ctt p.V1590L PRPF8_ENST00000304992.6_Missense_Mutation_p.V1590L Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1590 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AAGTCCATAACAATGCTCTCA 0.527000 15 654 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 67 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235850271 235850271 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:235850271G>T ENST00000389794.3 - 48 10952 c.10778C>A c.(10777-10779)aCa>aAa p.T3593K LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.T3593K Q99698 LYST_HUMAN lysosomal trafficking regulator 3593 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.T3593K(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAATCTGTTTGTGTAGGCTGT 0.453000 27 145 1.30988e-24 1.81407e-24 1 1 0 FBXL13 222235 broad.mit.edu 37 7 102566797 102566797 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:102566797C>A ENST00000393772.2 - 10 1228 c.802G>T c.(802-804)Gag>Tag p.E268* LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.E268*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.E268*|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.E268*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.E268*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.E268*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.E268*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.E268* Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 268 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GGGCAGCCCTCAGAAATGTGT 0.433000 8 30 3.07112e-06 3.38295e-06 1 1 0 MYOCD 93649 broad.mit.edu 37 17 12666802 12666802 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:12666802C>A ENST00000425538.1 + 14 3002 c.2802C>A c.(2800-2802)ccC>ccA p.P934P MYOCD_ENST00000343344.4_Silent_p.P886P|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 886 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.P934P(1)|p.P886P(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTGAATCTCCCTGGGAAACCA 0.547000 13 46 0.000151284 0.000159764 1 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541889 133541889 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:133541889G>A ENST00000409261.1 - 14 2868 c.2495C>T c.(2494-2496)aCt>aTt p.T832I NCKAP5_ENST00000317721.6_Missense_Mutation_p.T832I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 832 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTTTCAAGAGTCACCAGGCC 0.478000 54 149 0 0 1 0 0 NOC4L 79050 broad.mit.edu 37 12 132636145 132636145 + Missense_Mutation SNP G G T rs144634478 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:132636145G>T ENST00000330579.1 + 12 1231 c.1190G>T c.(1189-1191)cGg>cTg p.R397L NOC4L_ENST00000538784.1_Missense_Mutation_p.R12L|NOC4L_ENST00000535343.1_3'UTR NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 397 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CTGCTGCGCCGGCACCCTGCC 0.731000 9 22 1.76689e-08 2.0274e-08 1 1 0 TRAPPC10 7109 broad.mit.edu 37 21 45479081 45479081 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:45479081A>T ENST00000291574.4 + 6 951 c.776A>T c.(775-777)aAc>aTc p.N259I TRAPPC10_ENST00000380221.3_Missense_Mutation_p.N259I NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 259 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TATGTGGTCAACTTCGGGGCC 0.517000 7 35 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185077 56185077 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:56185077G>T ENST00000312253.1 - 1 631 c.632C>A c.(631-633)tCt>tAt p.S211Y NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GACAATGGAAGAGGAAGAGAT 0.463000 77 43 8.16569e-41 1.19319e-40 1 1 0 SLC14A2 8170 broad.mit.edu 37 18 43249421 43249421 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:43249421C>A ENST00000255226.6 + 16 3003 c.2187C>A c.(2185-2187)tcC>tcA p.S729S SLC14A2_ENST00000589658.1_Silent_p.S206S|SLC14A2_ENST00000586448.1_Silent_p.S729S|RP11-116O18.3_ENST00000589510.1_RNA NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 729 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGCCTGCATCCGCCATGCCCA 0.542000 108 140 5.09e-60 7.52984e-60 1 1 0 MYO10 4651 broad.mit.edu 37 5 16769190 16769190 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:16769190G>A ENST00000513610.1 - 10 1507 c.1053C>T c.(1051-1053)ttC>ttT p.F351F NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 351 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TACCTGTTTTGAAGGAAACCT 0.473000 4 46 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45233500 45233500 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:45233500G>C ENST00000303077.6 - 2 1004 c.685C>G c.(685-687)Ccc>Gcc p.P229A NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 229 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCAGTGCGGGGCTGGATGAT 0.692000 17 135 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45711386 45711386 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:45711386G>A ENST00000310806.4 - 4 1452 c.994C>T c.(994-996)Ctt>Ttt p.L332F MIS18BP1_ENST00000492652.1_5'UTR NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 332 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 GAACCTGGAAGACCTGTCTCT 0.398000 9 58 0 0 1 0 0 SLC25A37 51312 broad.mit.edu 37 8 23425845 23425845 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:23425845G>T ENST00000519973.1 + 3 648 c.450G>T c.(448-450)ggG>ggT p.G150G NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 150 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) GGATAGCTGGGAGTATGGCCA 0.517000 43 167 2.215e-12 2.69507e-12 1 1 0 AP1B1 162 broad.mit.edu 37 22 29755848 29755848 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:29755848C>T ENST00000357586.2 - 4 430 c.244G>A c.(244-246)Gac>Aac p.D82N AP1B1_ENST00000432560.2_Missense_Mutation_p.D82N|AP1B1_ENST00000317368.7_Missense_Mutation_p.D82N|AP1B1_ENST00000356015.2_Missense_Mutation_p.D82N|AP1B1_ENST00000402502.1_Missense_Mutation_p.D82N|AP1B1_ENST00000405198.1_Missense_Mutation_p.D82N|AP1B1_ENST00000415447.1_Missense_Mutation_p.D82N NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 82 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 ATGGCCATGTCAGGCTGACTC 0.537000 OREG0026449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 132 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60588535 60588535 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:60588535C>T ENST00000373886.3 + 21 2813 c.2809C>T c.(2809-2811)Cga>Tga p.R937* NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 937 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AAATAAAAACCGAAGAAAGCT 0.438000 22 21 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137590566 137590566 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:137590566A>T ENST00000330387.6 - 6 1148 c.797T>A c.(796-798)cTg>cAg p.L266Q CREB3L2_ENST00000456390.1_Missense_Mutation_p.L266Q NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 266 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CTCCTCTGTCAGGACCAGAGG 0.527000 T FUS fibromyxoid sarcoma 77 113 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379709 88379709 + Missense_Mutation SNP A A C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:88379709A>C ENST00000298699.2 - 11 1224 c.1044T>G c.(1042-1044)aaT>aaG p.N348K C12orf50_ENST00000550553.1_Missense_Mutation_p.N309K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 348 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGGAAGGTGCATTCAACGCGA 0.463000 37 104 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56935492 56935492 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:56935492G>A ENST00000333201.9 + 5 1675 c.1465G>A c.(1465-1467)Gag>Aag p.E489K ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.E489K NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TCATACTGGAGAGAAACCTTA 0.383000 28 75 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70999419 70999419 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:70999419G>A ENST00000396396.1 + 3 759 c.530G>A c.(529-531)aGa>aAa p.R177K PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.R177K NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 177 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 CGACTAGGAAGACAAGAATTT 0.398000 24 61 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25423702 25423702 + RNA SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:25423702G>T ENST00000441592.2 + 0 273 CCCAGATGGTGACTGTGGAAG 0.602000 11 13 3.07112e-06 3.38295e-06 1 1 0 TENM3 55714 broad.mit.edu 37 4 183601753 183601753 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:183601753G>T ENST00000511685.1 + 10 1820 c.1697G>T c.(1696-1698)tGt>tTt p.C566F TENM3_ENST00000406950.2_Missense_Mutation_p.C566F|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CGCTGCCTGTGTTTCAGCGGC 0.552000 16 32 9.16793e-09 1.05875e-08 1 1 0 WDR66 144406 broad.mit.edu 37 12 122392025 122392025 + Splice_Site SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:122392025G>C ENST00000288912.4 + 10 2174 c.e10-1 WDR66_ENST00000397454.2_Splice_Site NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TTTTGAAACAGACCTTCAACA 0.343000 8 56 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121822390 121822390 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:121822390C>T ENST00000330540.2 + 3 212 c.96C>T c.(94-96)ttC>ttT p.F32F CD86_ENST00000393627.2_Silent_p.F26F|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 32 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AAGCTTATTTCAATGAGACTG 0.428000 9 61 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5013210 5013210 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:5013210G>C ENST00000380390.1 + 6 828 c.612G>C c.(610-612)ctG>ctC p.L204L MMP26_ENST00000300762.1_Silent_p.L204L Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 204 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) ATCTGTTCCTGGTTGCAACTC 0.393000 12 18 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55897302 55897302 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:55897302G>C ENST00000521992.1 - 7 1000 c.855C>G c.(853-855)atC>atG p.I285M CES5A_ENST00000520435.1_Missense_Mutation_p.I226M|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Missense_Mutation_p.I256M|CES5A_ENST00000518005.1_Missense_Mutation_p.I150M|CES5A_ENST00000319165.9_Missense_Mutation_p.I256M NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 256 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGTAAGGGATGATGGCCACCC 0.498000 28 82 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109777848 109777848 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:109777848G>T ENST00000369923.4 + 7 775 c.764G>T c.(763-765)aGt>aTt p.S255I SARS_ENST00000234677.2_Missense_Mutation_p.S255I P49591 SYSC_HUMAN seryl-tRNA synthetase 255 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GGCAAAGGCAGTGAAAAGTCT 0.507000 86 105 2.36867e-37 3.44009e-37 1 1 0 ITIH5 80760 broad.mit.edu 37 10 7605141 7605141 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:7605141C>T ENST00000256861.6 - 14 2812 c.2734G>A c.(2734-2736)Gcc>Acc p.A912T ITIH5_ENST00000446830.2_Missense_Mutation_p.A694T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A698T|ITIH5_ENST00000397146.2_Intron NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 912 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.A912T(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATCAGTTTGGCGGCATTGTTC 0.522000 37 151 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298588 125298588 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:125298588C>A ENST00000538699.1 - 2 1400 c.1320G>T c.(1318-1320)gaG>gaT p.E440D DCAF12L2_ENST00000360028.2_Missense_Mutation_p.E440D NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 440 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 AGAGCTTCATCTCCGGCCAGT 0.572000 50 80 1.11015e-26 1.54945e-26 1 1 0 CORO1B 57175 broad.mit.edu 37 11 67208510 67208510 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:67208510C>G ENST00000453768.2 - 6 912 c.842G>C c.(841-843)tGg>tCg p.W281S CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGCTAGGAACCACAGGCCTCC 0.657000 27 35 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109155490 109155490 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:109155490G>A ENST00000261483.4 + 14 3282 c.2230G>A c.(2230-2232)Gga>Aga p.G744R NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 744 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AGAAGATAGCGGAATTTTCAC 0.333000 11 87 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927254 92927254 + Silent SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:92927254A>T ENST00000373079.3 - 1 1313 c.1050T>A c.(1048-1050)ccT>ccA p.P350P NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 350 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 CAGGCTGGCCAGGTTTTGAGA 0.403000 36 24 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44423693 44423693 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:44423693A>G ENST00000372343.3 + 8 2247 c.1585A>G c.(1585-1587)Agt>Ggt p.S529G NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 529 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CATGATCAACAGTGTTCTGCC 0.552000 90 140 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70979357 70979357 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:70979357G>T ENST00000357250.6 - 16 1367 c.1209C>A c.(1207-1209)ggC>ggA p.G403G COL9A1_ENST00000320755.7_Silent_p.G160G|COL9A1_ENST00000370499.4_Silent_p.G160G|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 403 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CATCATGAAAGCCAATTGTTC 0.294000 6 18 0.00621372 0.00637396 1 1 0 HADHB 3032 broad.mit.edu 37 2 26496567 26496567 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:26496567C>G ENST00000317799.5 + 6 407 c.303C>G c.(301-303)atC>atG p.I101M HADHB_ENST00000405867.3_Missense_Mutation_p.I101M|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.I79M|HADHB_ENST00000537713.1_Missense_Mutation_p.I86M NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 101 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGATTATATCATCTTTGGTA 0.393000 15 43 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9541496 9541496 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:9541496G>A ENST00000281419.3 + 27 3257 c.2917G>A c.(2917-2919)Gtg>Atg p.V973M ASAP2_ENST00000315273.4_Missense_Mutation_p.V928M NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 973 SH3. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TGTGATCATCGTGGACGGGGA 0.622000 40 74 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37262269 37262269 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:37262269A>G ENST00000310758.4 - 10 1378 c.731T>C c.(730-732)aTt>aCt p.I244T ELMO1_ENST00000448602.1_Missense_Mutation_p.I244T|ELMO1_ENST00000442504.1_Missense_Mutation_p.I244T NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 244 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 AATCACTGCAATAGTATAGGT 0.418000 50 74 0 0 1 0 0 APOPT1 84334 broad.mit.edu 37 14 104056599 104056599 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:104056599G>A ENST00000409074.2 + 5 598 c.597G>A c.(595-597)caG>caA p.Q199Q RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_Silent_p.Q186Q NM_032374.3 NP_115750.2 apoptogenic 1, mitochondrial AGCTTAAACAGAAACAAAAGA 0.478000 38 117 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152426864 152426864 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:152426864C>A ENST00000397345.3 - 109 17363 c.17161G>T c.(17161-17163)Gtg>Ttg p.V5721L NEB_ENST00000603639.1_Missense_Mutation_p.V5721L|NEB_ENST00000172853.10_Missense_Mutation_p.V4020L|NEB_ENST00000427231.2_Missense_Mutation_p.V5721L|NEB_ENST00000409198.1_Missense_Mutation_p.V4020L|NEB_ENST00000604864.1_Missense_Mutation_p.V5721L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5737 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 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) AGGGTGCCCACGTAGTGTCCC 0.512000 10 24 0.000673444 0.000699834 1 1 0 NCOA2 10499 broad.mit.edu 37 8 71036285 71036285 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:71036285C>T ENST00000452400.2 - 21 4308 c.4127G>A c.(4126-4128)gGg>gAg p.G1376E NCOA2_ENST00000267974.4_Missense_Mutation_p.G464E NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1376 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGCTTGCTGCCCAAAGTGTGG 0.493000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 9 29 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179302957 179302957 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:179302957C>G ENST00000356834.3 - 11 1900 c.1863G>C c.(1861-1863)gaG>gaC p.E621D TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E621D NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 621 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCATGCGCTCGCACAGGG 0.647000 7 12 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167045769 167045769 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:167045769C>A ENST00000392766.2 - 11 1163 c.823G>T c.(823-825)Gat>Tat p.D275Y ZBBX_ENST00000392767.2_Missense_Mutation_p.D275Y|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.D246Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D275Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D275Y NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 275 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGTTGTCATCATGATTTCCG 0.388000 33 59 2.85442e-18 3.72949e-18 1 1 0 MFSD9 84804 broad.mit.edu 37 2 103335273 103335273 + Missense_Mutation SNP C C A rs142876545 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:103335273C>A ENST00000258436.5 - 6 1074 c.1031G>T c.(1030-1032)cGg>cTg p.R344L NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 344 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CTTGTACAGCCGTAGGATTGG 0.622000 20 86 5.26018e-13 6.4381e-13 1 1 0 PHF14 9678 broad.mit.edu 37 7 11022137 11022137 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:11022137C>T ENST00000403050.3 + 3 703 c.251C>T c.(250-252)tCt>tTt p.S84F PHF14_ENST00000445996.2_Intron NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 84 Glu/Lys-rich. zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CTTAAAAATTCTGCAGAGGAA 0.303000 7 13 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 143000898 143000898 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:143000898A>T ENST00000310447.5 + 9 1230 c.989A>T c.(988-990)gAc>gTc p.D330V CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 330 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) CGTGGGGTTGACCAACAAGAT 0.522000 18 17 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397132 125397132 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:125397132C>G ENST00000536769.1 - 1 2762 c.1186G>C c.(1186-1188)Gag>Cag p.E396Q UBC_ENST00000546120.1_Missense_Mutation_p.E320Q|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.E396Q P0CG48 UBC_HUMAN ubiquitin C 396 Ubiquitin-like 6. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGCTCCACCTCGAGAGTGATG 0.522000 90 227 0 0 1 0 0 IL25 64806 broad.mit.edu 37 14 23842408 23842408 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:23842408C>A ENST00000329715.2 + 1 339 c.81C>A c.(79-81)gtC>gtA p.V27V IL25_ENST00000397242.2_Silent_p.V11V NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 27 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TGGCAATGGTCATGGGAACCC 0.587000 25 51 3.08376e-08 3.52149e-08 1 1 0 OR11L1 391189 broad.mit.edu 37 1 248004380 248004380 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:248004380G>T ENST00000355784.2 - 1 874 c.819C>A c.(817-819)atC>atA p.I273I NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGACAGAAATGATCTTGTTGA 0.473000 14 74 3.27435e-08 3.72133e-08 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70954753 70954753 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:70954753T>C ENST00000393567.2 - 46 7676 c.7526A>G c.(7525-7527)aAg>aGg p.K2509R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2509 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ctcccGGTCCTTGCGGCCCCT 0.701000 10 10 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355380 34355380 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:34355380C>A ENST00000383263.5 + 3 1132 c.462C>A c.(460-462)gcC>gcA p.A154A CHRM5_ENST00000557872.1_Silent_p.A154A NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 154 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) TTGGCTTGGCCTGGCTGATCT 0.527000 54 58 4.86159e-25 6.74593e-25 1 1 0 PAX6 5080 broad.mit.edu 37 11 31815013 31815013 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:31815013G>A ENST00000419022.1 - 12 1515 c.1047C>T c.(1045-1047)ttC>ttT p.F349F PAX6_ENST00000379115.4_Silent_p.F349F|PAX6_ENST00000241001.8_Silent_p.F335F|PAX6_ENST00000379111.2_Silent_p.F335F|PAX6_ENST00000379129.2_Silent_p.F349F|PAX6_ENST00000379107.2_Silent_p.F349F|PAX6_ENST00000379123.5_Silent_p.F335F|PAX6_ENST00000379132.3_Silent_p.F335F NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 335 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TTGCCATGGTGAAGCTGGGCA 0.587000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 66 98 0 0 1 0 0 ASB17 127247 broad.mit.edu 37 1 76397847 76397847 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:76397847C>G ENST00000284142.6 - 1 269 c.130G>C c.(130-132)Gaa>Caa p.E44Q NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 44 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 ATCCTTGGTTCGTAACAGTGA 0.398000 33 129 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752630 36752630 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:36752630C>A ENST00000354618.5 + 4 1023 c.799C>A c.(799-801)Cct>Act p.P267T THRAP3_ENST00000469141.2_Missense_Mutation_p.P267T NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 267 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCACCCCGTCCTAGCCCCGT 0.617000 T USP6 aneurysmal bone cysts 73 126 1.14856e-27 1.61249e-27 1 1 0 SPATA19 219938 broad.mit.edu 37 11 133712379 133712379 + Splice_Site SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:133712379C>T ENST00000299140.3 - 5 492 c.e5+1 SPATA19_ENST00000532889.1_Splice_Site NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) AAACAGCTTACCTTCGTCTCA 0.527000 32 130 0 0 1 0 0 PRKACB 5567 broad.mit.edu 37 1 84610202 84610202 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:84610202C>G ENST00000370685.3 + 1 249 c.158C>G c.(157-159)tCt>tGt p.S53C PRKACB_ENST00000370689.2_Intron|PRKACB_ENST00000370688.3_Intron|PRKACB_ENST00000470673.1_3'UTR NM_001242862.1|NM_182948.2 NP_001229791.1|NP_891993.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 0 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) CTTCATTTCTCTGAACATACT 0.348000 86 114 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148674930 148674930 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:148674930G>C ENST00000241416.7 + 6 1387 c.751G>C c.(751-753)Ggt>Cgt p.G251R ACVR2A_ENST00000535787.1_Missense_Mutation_p.G143R|ACVR2A_ENST00000404590.1_Missense_Mutation_p.G251R NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 251 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) ACAGTTCATTGGTGCAGAAAA 0.368000 15 28 0 0 1 0 0 DNAJC27 51277 broad.mit.edu 37 2 25179980 25179980 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:25179980C>T ENST00000264711.2 - 5 649 c.460G>A c.(460-462)Gaa>Aaa p.E154K DNAJC27_ENST00000534855.1_Missense_Mutation_p.E83K NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 154 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CCTTTGCTTTCAGCCCAAAGA 0.418000 23 122 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428947 120428947 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:120428947C>A ENST00000222747.3 - 8 1224 c.617G>T c.(616-618)tGt>tTt p.C206F TSPAN12_ENST00000415871.1_Missense_Mutation_p.C206F NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 206 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TTTCTTCCCACAACCCTGTAA 0.373000 12 43 5.50884e-06 5.97625e-06 1 1 0 SERPINA9 327657 broad.mit.edu 37 14 94935680 94935680 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:94935680G>A ENST00000337425.5 - 2 626 c.552C>T c.(550-552)tcC>tcT p.S184S SERPINA9_ENST00000380365.3_Silent_p.S166S|SERPINA9_ENST00000546329.1_Silent_p.S148S|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Silent_p.S86S|SERPINA9_ENST00000424550.2_Silent_p.S35S NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 166 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TGGAGGGGTTGGAGAAATCTG 0.498000 32 157 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4837625 4837625 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:4837625G>A ENST00000379333.1 - 17 2338 c.1946C>T c.(1945-1947)aCg>aTg p.T649M SLC23A2_ENST00000424750.2_Missense_Mutation_p.T535M|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T649M NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 649 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AGGCTATCCCGTGGCCTGGGA 0.502000 23 114 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61341214 61341214 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:61341214G>T ENST00000370501.3 + 1 1026 c.655G>T c.(655-657)Gcc>Tcc p.A219S NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 219 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CGGCCAGCACGCCGGCGGCCT 0.662000 16 53 5.35267e-07 5.92351e-07 1 1 0 LRRC8C 84230 broad.mit.edu 37 1 90180521 90180521 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:90180521G>A ENST00000370454.4 + 3 2647 c.2392G>A c.(2392-2394)Gag>Aag p.E798K LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 798 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TGACGTCCGGGAGCAAATGAA 0.413000 10 74 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101712242 101712242 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:101712242C>T ENST00000251127.6 - 42 4914 c.4833G>A c.(4831-4833)ccG>ccA p.P1611P NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1611 integral to membrane sodium channel activity|voltage-gated ion channel activity p.P1611P(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CGATGCTGGGCGGGTTCAGAA 0.552000 3 64 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75932977 75932977 + Silent SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:75932977A>G ENST00000274364.6 + 16 2196 c.1899A>G c.(1897-1899)tcA>tcG p.S633S IQGAP2_ENST00000502745.1_Silent_p.S186S|IQGAP2_ENST00000379730.3_Silent_p.S192S|IQGAP2_ENST00000396234.3_Silent_p.S186S NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 633 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATAAAGAATCATGGCTCACAG 0.373000 28 51 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72247483 72247483 + Missense_Mutation SNP G G A rs138535410 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:72247483G>A ENST00000582365.1 + 9 1222 c.1156G>A c.(1156-1158)Gca>Aca p.A386T CNDP1_ENST00000358821.3_Missense_Mutation_p.A429T Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 429 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CCAGTATCTCGCAGCAAAAAG 0.483000 10 70 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596357 58596357 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:58596357C>A ENST00000240727.6 - 7 1627 c.1228G>T c.(1228-1230)Ggg>Tgg p.G410W ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G274W|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G410W|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G466W NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 410 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TAGGGCTTCCCGCGGGACAAG 0.731000 7 11 5.18039e-06 5.63702e-06 1 1 0 PHKA1 5255 broad.mit.edu 37 X 71895993 71895993 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:71895993C>A ENST00000373545.3 - 6 983 c.545G>T c.(544-546)gGg>gTg p.G182V PHKA1_ENST00000373539.3_Missense_Mutation_p.G182V|PHKA1_ENST00000339490.3_Missense_Mutation_p.G182V|PHKA1_ENST00000373542.4_Missense_Mutation_p.G182V|PHKA1_ENST00000541944.1_Missense_Mutation_p.G182V P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 182 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TTCCCATATCCCGAAGTCCTG 0.388000 18 25 1.50039e-11 1.79946e-11 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34049354 34049354 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:34049354G>A ENST00000373381.4 - 47 7304 c.7128C>T c.(7126-7128)ccC>ccT p.P2376P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2378 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCTGGAACTGGGGATAGCTTC 0.512000 12 146 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10132275 10132275 + Splice_Site SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:10132275G>A ENST00000324907.9 + 11 1597 c.e11+1 GRHL1_ENST00000324883.5_Splice_Site|GRHL1_ENST00000405379.2_Splice_Site NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) GGGCACTCATGTAGGTAACCA 0.463000 13 50 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127898459 127898459 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:127898459C>A ENST00000329722.7 + 1 141 c.129C>A c.(127-129)taC>taA p.Y43* C6orf58_ENST00000498112.1_Intron NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 43 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TCAGTGACTACAGGGTGGAGA 0.453000 59 72 3.40165e-17 4.37268e-17 1 1 0 HIST1H1C 3006 broad.mit.edu 37 6 26056141 26056141 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:26056141C>G ENST00000343677.2 - 1 558 c.516G>C c.(514-516)aaG>aaC p.K172N NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 172 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TCTTTGGGCTCTTAGCCACTT 0.562000 59 268 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14501801 14501801 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:14501801G>A ENST00000242786.5 + 4 336 c.256G>A c.(256-258)Gag>Aag p.E86K CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.E86K|CD97_ENST00000357355.3_Missense_Mutation_p.E86K NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 86 EGF-like 2; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTGGAACACAGAGGGGAGCTA 0.517000 15 71 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75893302 75893302 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:75893302G>T ENST00000274364.6 + 10 1243 c.946G>T c.(946-948)Gaa>Taa p.E316* IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 316 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TGTCATTCCGGAAGGTGACCC 0.517000 17 35 2.94398e-08 3.37263e-08 1 1 0 CHD1L 9557 broad.mit.edu 37 1 146758091 146758091 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:146758091C>T ENST00000369258.4 + 18 2155 c.2135C>T c.(2134-2136)cCa>cTa p.P712L CHD1L_ENST00000361293.5_Missense_Mutation_p.P431L|CHD1L_ENST00000369259.3_Missense_Mutation_p.P508L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.P618L NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 712 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) TACCAAGACCCAGATGCTACT 0.552000 90 142 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164743 26164743 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:26164743C>A ENST00000335473.7 + 4 1110 c.860C>A c.(859-861)gCa>gAa p.A287E MYO18B_ENST00000407587.2_Missense_Mutation_p.A287E|MYO18B_ENST00000536101.1_Missense_Mutation_p.A287E NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 287 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AAGGAGGGAGCAGAGCCCACA 0.617000 5 15 1.23904e-05 1.33406e-05 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159284048 159284048 + Silent SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:159284048T>G ENST00000332217.5 - 1 401 c.402A>C c.(400-402)tcA>tcC p.S134S NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CCATGATGACTGAATACCTTA 0.512000 15 124 0 0 1 0 0 KLK1 3816 broad.mit.edu 37 19 51323187 51323187 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:51323187C>A ENST00000448701.2 - 5 1619 c.295G>T c.(295-297)Gga>Tga p.G99* KLK1_ENST00000301420.2_Nonsense_Mutation_p.G201* P06870 KLK1_HUMAN kallikrein 1 201 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCAGGTGTCCGACACACAGC 0.552000 3 60 0.150653 0.152141 1 1 0 RIF1 55183 broad.mit.edu 37 2 152315377 152315377 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:152315377G>C ENST00000243326.4 + 24 3391 c.2908G>C c.(2908-2910)Gaa>Caa p.E970Q RIF1_ENST00000428287.2_Missense_Mutation_p.E970Q|RIF1_ENST00000430328.2_Missense_Mutation_p.E970Q|RIF1_ENST00000444746.2_Missense_Mutation_p.E970Q|RIF1_ENST00000453091.2_Missense_Mutation_p.E970Q Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 970 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GCCTGGTTTGGAAACTGTTGA 0.348000 16 39 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 7992648 7992648 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:7992648G>A ENST00000270538.3 - 12 1401 c.1133C>T c.(1132-1134)gCc>gTc p.A378V TIMM44_ENST00000598968.1_5'UTR NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 378 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 CTTGCCCATGGCCAGCTGCAG 0.652000 4 46 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762682 130762682 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:130762682T>C ENST00000392429.1 + 2 3493 c.1115T>C c.(1114-1116)cTc>cCc p.L372P TMEM200A_ENST00000545622.1_Missense_Mutation_p.L372P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.L372P NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 372 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GCTGGACAGCTCTTGTCTCCT 0.542000 5 54 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45007682 45007682 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:45007682G>A ENST00000558401.1 + 2 199 c.129G>A c.(127-129)ctG>ctA p.L43L B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Silent_p.L43L|B2M_ENST00000544417.1_Silent_p.L43L NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 43 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) CAAATTTCCTGAATTGCTATG 0.403000 31 98 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25551170 25551170 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:25551170G>A ENST00000329474.6 + 27 2729 c.2361G>A c.(2359-2361)gaG>gaA p.E787E NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 787 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ATGCTGCTGAGAATCTTTGTC 0.458000 37 202 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47810776 47810776 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:47810776C>G ENST00000285106.6 - 9 1891 c.1177G>C c.(1177-1179)Gat>Cat p.D393H CXXC1_ENST00000412036.2_Missense_Mutation_p.D397H|CXXC1_ENST00000589940.1_Missense_Mutation_p.D393H NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 393 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CCACAGTCATCTGAGCAATAC 0.607000 36 170 0 0 1 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392777 22392777 + RNA SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:22392777C>A ENST00000390440.2 + 0 375 TTGTCATCTCCGCTTCACAAC 0.483000 43 136 6.68952e-21 8.936e-21 1 1 0 ATP8B1 5205 broad.mit.edu 37 18 55359071 55359071 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:55359071G>A ENST00000536015.1 - 12 1307 c.1188C>T c.(1186-1188)ctC>ctT p.L396L RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.L396L|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 396 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) CCATGGTGTTGAGAACAATGA 0.463000 16 67 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080322 29080322 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:29080322A>T ENST00000377169.1 + 1 655 c.655A>T c.(655-657)Act>Tct p.T219S NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CCTCATTCTCACTTCTTATGG 0.458000 39 86 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917817 48917817 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:48917817G>A ENST00000311378.4 + 2 1696 c.1168G>A c.(1168-1170)Gcc>Acc p.A390T RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A297T NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 390 BPTI/Kunitz inhibitor 2. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CAGCCTGCCCGCCCTGCAGGG 0.657000 18 64 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71037196 71037196 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:71037196C>T ENST00000318789.4 - 14 1620 c.1095G>A c.(1093-1095)atG>atA p.M365I FOXP1_ENST00000484350.1_Missense_Mutation_p.M289I|FOXP1_ENST00000491238.1_Missense_Mutation_p.M367I|FOXP1_ENST00000468577.1_Missense_Mutation_p.M365I|FOXP1_ENST00000475937.1_Missense_Mutation_p.M365I|FOXP1_ENST00000498215.1_Missense_Mutation_p.M365I|FOXP1_ENST00000493089.1_Missense_Mutation_p.M365I NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 365 Leucine-zipper. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGTGGGTCATCATGGCTTGCA 0.438000 T PAX5 ALL 73 175 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128819695 128819695 + Nonstop_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:128819695G>T ENST00000270861.5 + 16 3186 c.2912G>T c.(2911-2913)tGa>tTa p.*971L PLK4_ENST00000515069.1_Nonstop_Mutation_p.*893L|PLK4_ENST00000514379.1_Nonstop_Mutation_p.*930L|PLK4_ENST00000513090.1_Nonstop_Mutation_p.*939L|PLK4_ENST00000507249.1_Nonstop_Mutation_p.*910L NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 0 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 AATTTTCATTGATTAAAACTC 0.274000 7 31 8.12818e-05 8.6219e-05 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103355111 103355111 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:103355111G>T ENST00000358392.2 - 59 4717 c.4400C>A c.(4399-4401)cCt>cAt p.P1467H COL11A1_ENST00000512756.1_Missense_Mutation_p.P1339H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1455H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1416H NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1455 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AATTAAACCAGGATGTCCCTT 0.393000 45 45 4.06502e-11 4.83481e-11 1 1 0 IBSP 3381 broad.mit.edu 37 4 88731901 88731901 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:88731901C>A ENST00000226284.5 + 6 457 c.390C>A c.(388-390)atC>atA p.I130I NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 130 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) TAGCTGCAATCCAGCTTCCCA 0.398000 33 58 1.74807e-11 2.09301e-11 1 1 0 SUN2 25777 broad.mit.edu 37 22 39138464 39138464 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:39138464G>A ENST00000405510.1 - 10 1268 c.910C>T c.(910-912)Cgg>Tgg p.R304W SUN2_ENST00000216064.4_Missense_Mutation_p.R304W|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.R304W|SUN2_ENST00000405018.1_Missense_Mutation_p.R325W|SUN2_ENST00000411587.2_Missense_Mutation_p.R293W NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 304 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 CGTTCCAGCCGCATGGCCTCC 0.642000 4 56 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107744992 107744992 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:107744992C>G ENST00000388781.3 - 9 1026 c.943G>C c.(943-945)Gat>Cat p.D315H LAMB4_ENST00000388780.3_Missense_Mutation_p.D315H|LAMB4_ENST00000205386.4_Missense_Mutation_p.D315H|LAMB4_ENST00000414450.2_Missense_Mutation_p.D315H NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 315 Laminin EGF-like 1. 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 CAAGGAGCATCCTGGAAGAAG 0.502000 69 119 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87162500 87162500 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:87162500G>A ENST00000285393.3 + 6 941 c.799G>A c.(799-801)Gta>Ata p.V267I CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 267 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 GATGAAGAACGTAGCGGATCA 0.473000 22 61 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784213 140784213 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:140784213C>G ENST00000573521.1 + 1 1694 c.1694C>G c.(1693-1695)cCt>cGt p.P565R PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCTGTACCCTGCCCTCCCC 0.557000 82 108 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127782985 127782985 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:127782985G>C ENST00000336505.5 - 7 634 c.576C>G c.(574-576)ctC>ctG p.L192L SCAI_ENST00000373549.4_Silent_p.L215L NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 192 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 CCATTTTGTTGAGAAGAAGAC 0.264000 3 48 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149495388 149495388 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:149495388C>G ENST00000261799.4 - 23 3728 c.3259G>C c.(3259-3261)Gaa>Caa p.E1087Q NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1087 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGCAACTGTTCCAGCTCTGGC 0.672000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 11 38 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821695 21821695 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:21821695C>T ENST00000216297.2 - 25 3288 c.2950G>A c.(2950-2952)Gaa>Aaa p.E984K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 984 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CCACTCTCTTCTTCACTACCC 0.368000 21 75 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581150 1581150 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:1581150A>G ENST00000421627.2 + 5 1642 c.1508A>G c.(1507-1509)gAt>gGt p.D503G NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 582 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TACTCCCAAGATGACGAATGT 0.547000 20 55 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102584721 102584721 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:102584721C>A ENST00000370296.2 + 10 1703 c.1153C>A c.(1153-1155)Ccc>Acc p.P385T PAX2_ENST00000428433.1_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000355243.3_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.P362T Q02962 PAX2_HUMAN paired box 2 0 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TGCAGAAGTGCCCCCTTGTGT 0.602000 42 48 8.20599e-20 1.08805e-19 1 1 0 COL6A2 1292 broad.mit.edu 37 21 47532404 47532404 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:47532404C>G ENST00000300527.4 + 3 731 c.627C>G c.(625-627)caC>caG p.H209Q COL6A2_ENST00000310645.5_Missense_Mutation_p.H209Q|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.H209Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.H209Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.H209Q NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 209 Nonhelical region.|VWFA 1. 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) GCACGCCGCACGAGCTCTACC 0.677000 14 31 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125221210 125221210 + Silent SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:125221210A>G ENST00000298282.9 + 4 280 c.9A>G c.(7-9)caA>caG p.Q3Q PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_5'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 3 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCATGATGCAACATGCCTCCC 0.662000 3 15 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1388958 1388958 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:1388958G>T ENST00000324385.5 + 3 450 c.292G>T c.(292-294)Ggg>Tgg p.G98W BAIAP3_ENST00000397488.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G63W|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G63W NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 98 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GCTGAAGAAGGGGGAAGGCAG 0.657000 29 131 3.57733e-08 4.0528e-08 1 1 0 PREX1 57580 broad.mit.edu 37 20 47296264 47296264 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr20:47296264C>A ENST00000396220.1 - 12 1486 c.1464G>T c.(1462-1464)gaG>gaT p.E488D PREX1_ENST00000371941.3_Missense_Mutation_p.E488D Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 488 DEP 1. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACATCACCTGCTCATTCTTGA 0.617000 49 107 1.03172e-35 1.49235e-35 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26306940 26306940 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:26306940C>A ENST00000335473.7 + 33 5537 c.5287C>A c.(5287-5289)Caa>Aaa p.Q1763K MYO18B_ENST00000407587.2_Missense_Mutation_p.Q1764K|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q1763K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1763 Gln-rich.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCAGCTGGAGCAAGAGTATGA 0.498000 4 11 1.23904e-05 1.33406e-05 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31862811 31862811 + Silent SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:31862811A>T ENST00000396184.3 - 15 1662 c.1458T>A c.(1456-1458)tcT>tcA p.S486S PDE1C_ENST00000396182.2_Silent_p.S486S|PDE1C_ENST00000321453.7_Silent_p.S486S|PDE1C_ENST00000396191.1_Silent_p.S486S|PDE1C_ENST00000396193.1_Silent_p.S546S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 486 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding 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) CCTCTGAACCAGAGGTCTTGA 0.438000 28 83 0 0 1 0 0 RBM25 58517 broad.mit.edu 37 14 73578328 73578328 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:73578328G>T ENST00000261973.7 + 16 2395 c.2110G>T c.(2110-2112)Gat>Tat p.D704Y RBM25_ENST00000527432.1_Missense_Mutation_p.D704Y|RBM25_ENST00000532483.1_3'UTR NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 704 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TGAAGACAGTGATGACGTACC 0.398000 28 101 4.22769e-11 5.01995e-11 1 1 0 ZNF536 9745 broad.mit.edu 37 19 30934682 30934682 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:30934682C>A ENST00000355537.3 + 2 360 c.213C>A c.(211-213)ccC>ccA p.P71P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCACGTGCCCATGAGCGGCC 0.682000 40 44 3.78316e-11 4.50706e-11 1 1 0 YTHDC1 91746 broad.mit.edu 37 4 69195743 69195743 + Silent SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:69195743G>C ENST00000344157.4 - 9 1661 c.1326C>G c.(1324-1326)gtC>gtG p.V442V YTHDC1_ENST00000355665.3_Silent_p.V424V|YTHDC1_ENST00000579690.1_Silent_p.V442V NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 442 YTH. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CAATTTTAAAGACACCTCCCA 0.368000 9 33 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618630 156618630 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:156618630G>A ENST00000329117.4 + 6 1376 c.1040G>A c.(1039-1041)cGc>cAc p.R347H RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 347 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AAGCACAGCCGCTTCAACGTC 0.572000 41 208 0 0 1 0 0 C1orf141 400757 broad.mit.edu 37 1 67560954 67560954 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:67560954G>A ENST00000371007.2 - 7 676 c.567C>T c.(565-567)gtC>gtT p.V189V C1orf141_ENST00000544837.1_Silent_p.V189V|C1orf141_ENST00000371006.1_Silent_p.V189V NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 189 V -> I (in dbSNP:rs11208997). NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 GACTAACGTTGACTATCTTGG 0.348000 14 12 0 0 1 0 0 TAS2R20 259295 broad.mit.edu 37 12 11149851 11149851 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:11149851C>G ENST00000538986.1 - 1 623 c.624G>C c.(622-624)aaG>aaC p.K208N TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 208 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 GGAGCTGCATCTTCTTCAGAT 0.428000 46 162 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11521544 11521544 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:11521544G>T ENST00000423059.3 - 7 2139 c.1888C>A c.(1888-1890)Cca>Aca p.P630T AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 630 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCGGGCATGGGGCATCACAG 0.532000 HNSCC(18;0.044) 11 56 3.86212e-05 4.12113e-05 1 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133664099 133664099 + Nonsense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:133664099G>C ENST00000310926.4 - 10 1574 c.1301C>G c.(1300-1302)tCa>tGa p.S434* SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.S358* NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 434 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TATAGAACTTGATGTGCTGCC 0.527000 111 115 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46053442 46053442 + Splice_Site SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:46053442G>T ENST00000295452.4 - 8 1297 c.1131_splice c.e8+1 p.S377_splice NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 377 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.S377*(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTAACATACCGAGGCTTTATT 0.318000 3 10 0.115264 0.116897 1 1 0 FUT1 2523 broad.mit.edu 37 19 49253951 49253951 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:49253951C>G ENST00000310160.3 - 4 1562 c.588G>C c.(586-588)caG>caC p.Q196H NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 196 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity p.Q196Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) CCAGCACACTCTGCGCCTCTT 0.642000 66 199 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616556 92616556 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:92616556G>C ENST00000298047.6 + 23 12951 c.12934G>C c.(12934-12936)Gag>Cag p.E4312Q FAT3_ENST00000533797.1_Missense_Mutation_p.E647Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E4162Q|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.E4312Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4312 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGCGGGAACTGAGAGTGAGTA 0.652000 TCGA Ovarian(4;0.039) 21 38 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936450 30936450 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:30936450G>T ENST00000355537.3 + 2 2128 c.1981G>T c.(1981-1983)Gag>Tag p.E661* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CAAGGGCGAGGAGGATGGGCT 0.692000 23 89 2.39556e-15 2.983e-15 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38881668 38881668 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:38881668C>T ENST00000359357.3 + 65 9506 c.9252C>T c.(9250-9252)ctC>ctT p.L3084L DNAH8_ENST00000449981.2_Silent_p.L3301L|DNAH8_ENST00000441566.1_Silent_p.L3048L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGCTAAACTCTCTCAGGATC 0.373000 17 72 0 0 1 0 0 DDHD2 23259 broad.mit.edu 37 8 38095710 38095710 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:38095710C>T ENST00000397166.2 + 5 1130 c.605C>T c.(604-606)tCt>tTt p.S202F DDHD2_ENST00000520272.2_Missense_Mutation_p.S202F NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 202 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GAGAACATCTCTGTTGACATT 0.408000 10 61 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52548952 52548952 + Nonsense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:52548952G>C ENST00000242839.4 - 2 560 c.404C>G c.(403-405)tCa>tGa p.S135* ATP7B_ENST00000344297.5_Nonsense_Mutation_p.S135*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.S135*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.S135*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.S135*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.S135*|ATP7B_ENST00000542656.1_Nonsense_Mutation_p.S103* NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 135 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CAAGGACCTTGAGGGCCAGGA 0.587000 Wilson disease 5 68 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 25 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049797 36049797 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr13:36049797A>G ENST00000379919.4 - 1 1035 c.479T>C c.(478-480)cTg>cCg p.L160P NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 160 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) TCGGATTCTCAGTTTCACTTC 0.562000 12 53 0 0 1 0 0 APOLD1 81575 broad.mit.edu 37 12 12940506 12940506 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:12940506C>G ENST00000356591.4 + 2 752 c.667C>G c.(667-669)Cgg>Ggg p.R223G RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Missense_Mutation_p.R254G NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 254 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) GCTGGAGTCTCGGGTTCAGCT 0.587000 30 70 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13811833 13811833 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:13811833C>G ENST00000265104.4 - 44 7434 c.7330G>C c.(7330-7332)Gaa>Caa p.E2444Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2444 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) ATCTTGTATTCTAAGTTCTGG 0.443000 Kartagener syndrome 16 108 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536982 146536982 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:146536982G>C ENST00000361727.3 + 3 904 c.388G>C c.(388-390)Gat>Cat p.D130H NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 130 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTATCATCAAGATGGGAATAT 0.423000 HNSCC(39;0.1) 6 41 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45375052 45375052 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:45375052T>A ENST00000402690.2 - 8 1185 c.791A>T c.(790-792)cAg>cTg p.Q264L SMAD2_ENST00000356825.4_Missense_Mutation_p.Q234L|SMAD2_ENST00000586040.1_Missense_Mutation_p.Q234L|SMAD2_ENST00000591214.1_Missense_Mutation_p.Q234L|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q264L NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 264 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 AGTAACTGGCTGTAAATCTGA 0.328000 39 40 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185278533 185278533 + Translation_Start_Site SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:185278533G>T ENST00000392007.3 - 0 323 IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.F31L|IVNS1ABP_ENST00000367498.3_Missense_Mutation_p.F31L Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 GAACATCACAGAACTGGCCAC 0.294000 20 69 3.08376e-08 3.52149e-08 1 1 0 RHEB 6009 broad.mit.edu 37 7 151167735 151167735 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:151167735C>A ENST00000262187.5 - 7 796 c.384G>T c.(382-384)gtG>gtT p.V128V RHEB_ENST00000472642.1_Silent_p.V23V|RHEB_ENST00000496004.1_Silent_p.V23V NM_005614.3 NP_005605.1 Q15382 RHEB_HUMAN Ras homolog enriched in brain 128 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7) 14 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) CATAACTGATCACCCTAAAGA 0.308000 8 39 0.27861 0.279 1 1 0 CNOT1 23019 broad.mit.edu 37 16 58621689 58621689 + Nonsense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:58621689G>A ENST00000317147.5 - 4 636 c.304C>T c.(304-306)Cag>Tag p.Q102* CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q102*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q102* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 102 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CCAACCTTCTGATAGTGCAAT 0.363000 18 60 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108070936 108070936 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:108070936G>C ENST00000369022.2 - 2 273 c.64C>G c.(64-66)Cag>Gag p.Q22E SCML4_ENST00000369020.3_Missense_Mutation_p.Q80E|SCML4_ENST00000369021.3_Missense_Mutation_p.Q51E Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GCTGCGTCCTGAGGGATGGAG 0.602000 27 83 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127728833 127728833 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:127728833C>A ENST00000508053.1 - 16 2434 c.1460G>T c.(1459-1461)gGa>gTa p.G487V FBN2_ENST00000262464.4_Missense_Mutation_p.G487V|FBN2_ENST00000508989.1_Missense_Mutation_p.G454V P35556 FBN2_HUMAN fibrillin 2 487 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTTACTTAGTCCAGTGATGAT 0.488000 48 59 1.67211e-32 2.38018e-32 1 1 0 IL16 3603 broad.mit.edu 37 15 81592345 81592345 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:81592345C>A ENST00000394660.2 + 14 3038 c.2678C>A c.(2677-2679)cCc>cAc p.P893H IL16_ENST00000302987.4_Missense_Mutation_p.P893H|IL16_ENST00000394652.2_Missense_Mutation_p.P192H|IL16_ENST00000560230.1_3'UTR NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 893 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GGGGCTGCACCCACTCTTGTG 0.642000 66 67 9.40535e-28 1.32303e-27 1 1 0 SF3B3 23450 broad.mit.edu 37 16 70599027 70599027 + Silent SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr16:70599027A>T ENST00000302516.5 + 19 2734 c.2523A>T c.(2521-2523)gcA>gcT p.A841A NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 841 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGGCAGCAGCATTCCTCAATG 0.537000 33 70 0 0 1 0 0 SRD5A1 6715 broad.mit.edu 37 5 6668361 6668361 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:6668361A>G ENST00000274192.5 + 5 994 c.760A>G c.(760-762)Ata>Gta p.I254V SRD5A1_ENST00000538824.1_Missense_Mutation_p.I207V|SRD5A1_ENST00000537411.1_3'UTR NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 254 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CAGAAAAATTATAATTCCATT 0.299000 59 26 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72267446 72267446 + RNA SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:72267446C>A ENST00000438125.1 - 0 427 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CATAATTTTGCCCAAATCTTC 0.418000 34 76 1.26612e-14 1.56841e-14 1 1 0 NCAM2 4685 broad.mit.edu 37 21 22849741 22849741 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:22849741G>C ENST00000400546.1 + 15 2275 c.2026G>C c.(2026-2028)Gaa>Caa p.E676Q NCAM2_ENST00000284894.7_Missense_Mutation_p.E534Q NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 676 Fibronectin type-III 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GGGATATTCTGAACCGACAGT 0.368000 31 77 0 0 1 0 0 ADRBK2 157 broad.mit.edu 37 22 26099489 26099489 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr22:26099489C>G ENST00000324198.5 + 14 1365 c.1173C>G c.(1171-1173)ttC>ttG p.F391L NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 391 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) ACAGCCCTTTCAGACAACATA 0.353000 26 87 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495084 71495084 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:71495084G>T ENST00000296755.7 + 5 6200 c.5902G>T c.(5902-5904)Gaa>Taa p.E1968* NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1968 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CAGCCCCCCCGAAGTGAGTGG 0.478000 16 115 4.7546e-09 5.50857e-09 1 1 0 MACF1 23499 broad.mit.edu 37 1 39782975 39782975 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:39782975G>C ENST00000564288.1 + 29 4455 c.3678G>C c.(3676-3678)atG>atC p.M1226I MACF1_ENST00000317713.7_Missense_Mutation_p.M1231I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.M1231I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1231I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1231I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1263I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1231I Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1231 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAGCAGATGAGTCGTCTGA 0.517000 14 50 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143053718 143053718 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:143053718G>A ENST00000409408.1 - 6 2632 c.924C>T c.(922-924)ctC>ctT p.L308L FAM131B_ENST00000409222.3_Silent_p.L308L|FAM131B_ENST00000409346.1_Silent_p.L308L|FAM131B_ENST00000443739.2_Silent_p.L336L|FAM131B_ENST00000409578.1_Silent_p.L324L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 308 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CCTTCCGGCTGAGAGCGGTAG 0.582000 66 231 0 0 1 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044405 90044405 + RNA SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:90044405G>T ENST00000462693.1 + 0 356 GAGGATGTCGGGGTTTATTAC 0.527000 49 217 1.07234e-20 1.42979e-20 1 1 0 EFCAB11 90141 broad.mit.edu 37 14 90397947 90397947 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:90397947G>A ENST00000316738.7 - 5 376 c.348C>T c.(346-348)ttC>ttT p.F116F EFCAB11_ENST00000555872.1_Silent_p.F92F|EFCAB11_ENST00000267544.9_Silent_p.F53F|EFCAB11_ENST00000556609.1_Silent_p.F68F|EFCAB11_ENST00000538485.2_Silent_p.F116F|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000550103.2_5'UTR|EFCAB11_ENST00000556005.1_Silent_p.F92F NM_145231.2 NP_660274.1 Q9BUY7 EFC11_HUMAN EF-hand calcium binding domain 11 116 EF-hand 2. calcium ion binding large_intestine(1)|lung(1) 2 ATGCTTTTTTGAAATCTTCCA 0.343000 17 66 0 0 1 0 0 CDKN2D 1032 broad.mit.edu 37 19 10677786 10677786 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:10677786C>T ENST00000393599.2 - 2 773 c.449G>A c.(448-450)gGg>gAg p.G150E CDKN2D_ENST00000335766.2_Missense_Mutation_p.G150E NM_001800.3|NM_079421.2 NP_001791.1|NP_524145.1 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) 150 anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.G150L(1) endometrium(3)|lung(2)|ovary(1) 6 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) GTCCTGAGCCCCTCTCTGCAG 0.612000 23 38 0 0 1 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190617612 190617612 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:190617612G>A ENST00000519810.1 - 7 1399 c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S OSGEPL1_ENST00000522700.1_Missense_Mutation_p.P353S|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.P353S Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 353 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CATAGTCTGGGAGGAGGACAC 0.403000 19 64 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861155 55861155 + Silent SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:55861155A>T ENST00000302124.2 + 1 403 c.372A>T c.(370-372)atA>atT p.I124I OR8I2_ENST00000560768.1_Silent_p.I124I Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 124 I -> V (in dbSNP:rs17603011). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ATCGCTACATAGCAATCTGCA 0.438000 97 63 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86693692 86693692 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:86693692G>C ENST00000409556.1 + 11 1570 c.1205G>C c.(1204-1206)aGa>aCa p.R402T KDM3A_ENST00000542128.1_Missense_Mutation_p.R350T|KDM3A_ENST00000409064.1_Missense_Mutation_p.R402T|KDM3A_ENST00000312912.5_Missense_Mutation_p.R402T Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 402 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 CAGGAAAACAGATTGGAGTCT 0.448000 61 205 0 0 1 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364205 142364205 + RNA SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:142364205G>T ENST00000390397.2 + 0 8 TCCAGAGCTGGAAACACCTCC 0.512000 5 20 0.00116845 0.00120897 1 1 0 DOCK4 9732 broad.mit.edu 37 7 111508150 111508150 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:111508150C>A ENST00000428084.1 - 22 2442 c.2170G>T c.(2170-2172)Ggt>Tgt p.G724C DOCK4_ENST00000437633.1_Missense_Mutation_p.G724C|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 724 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TTTTGCCCACCAGTGGCAAGG 0.413000 16 20 4.75885e-15 5.91551e-15 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124270370 124270370 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:124270370G>C ENST00000409039.3 + 9 1150 c.1125G>C c.(1123-1125)tgG>tgC p.W375C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 375 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGATGGTGTGGATCATCTCCC 0.577000 23 81 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70964822 70964822 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:70964822G>A ENST00000334414.6 - 13 3398 c.3354C>T c.(3352-3354)ttC>ttT p.F1118F PTPRB_ENST00000550358.1_Silent_p.F1030F|PTPRB_ENST00000538708.1_Silent_p.F900F|PTPRB_ENST00000551525.1_Silent_p.F1117F|PTPRB_ENST00000550857.1_Silent_p.F810F|PTPRB_ENST00000261266.5_Silent_p.F900F|PTPRB_ENST00000451516.2_Silent_p.F810F NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 900 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCCCTCAATGAAGGCTGACT 0.433000 13 35 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8783636 8783636 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:8783636G>C ENST00000359865.3 + 6 668 c.526G>C c.(526-528)Gag>Cag p.E176Q SOGA2_ENST00000400050.3_Missense_Mutation_p.E176Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E176Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E536Q|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 527 GCTGGAGCAGGAGCTCCAGAA 0.612000 7 15 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119474343 119474343 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:119474343G>A ENST00000369429.3 - 2 327 c.318C>T c.(316-318)gcC>gcT p.A106A TBX15_ENST00000207157.3_5'UTR Q96SF7 TBX15_HUMAN T-box 15 106 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TGGAAGACATGGCAGCAGGCA 0.542000 23 29 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50587104 50587104 + Splice_Site SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:50587104T>C ENST00000216373.5 - 22 3654 c.e22-2 SOS2_ENST00000543680.1_Splice_Site NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) AGAAAGACTCTGGGGGAGAAA 0.378000 5 28 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617657 77617657 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:77617657G>A ENST00000521891.2 + 2 1782 c.1334G>A c.(1333-1335)tGt>tAt p.C445Y ZFHX4_ENST00000518282.1_Missense_Mutation_p.C445Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C445Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.C445Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 445 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAGAACAACTGTGAAAGGCCA 0.478000 HNSCC(33;0.089) 18 14 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2983578 2983578 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:2983578C>T ENST00000342628.2 - 2 180 c.67G>A c.(67-69)Gcc>Acc p.A23T FOXM1_ENST00000361953.3_Missense_Mutation_p.A23T|FOXM1_ENST00000359843.3_Missense_Mutation_p.A23T NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 23 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TCACTTGGGGCATTTTGAACA 0.502000 36 124 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583533 7583533 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:7583533G>T ENST00000379802.3 + 24 6379 c.6038G>T c.(6037-6039)cGg>cTg p.R2013L DSP_ENST00000418664.2_Missense_Mutation_p.R1414L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2013 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCATTCCTTCGGGGTGCAGGA 0.453000 56 85 3.21867e-24 4.42501e-24 1 1 0 HOXB6 3216 broad.mit.edu 37 17 46674007 46674007 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:46674007C>A ENST00000484302.2 - 3 1065 c.443G>T c.(442-444)cGa>cTa p.R148L HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.R148L|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000487849.3_RNA P17509 HXB6_HUMAN homeobox B6 148 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 CTGGCGGCCTCGCCGGCCGCT 0.652000 27 102 4.72057e-08 5.32272e-08 1 1 0 OR10G2 26534 broad.mit.edu 37 14 22102429 22102429 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:22102429C>A ENST00000542433.1 - 1 667 c.570G>T c.(568-570)ttG>ttT p.L190F NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGGCCAGTCTCAATACTGCGC 0.532000 67 145 1.34568e-36 1.95041e-36 1 1 0 RCAN1 1827 broad.mit.edu 37 21 35890510 35890510 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:35890510C>T ENST00000481448.1 - 5 1087 c.601G>A c.(601-603)Gtg>Atg p.V201M RCAN1_ENST00000381135.3_Missense_Mutation_p.V201M|RCAN1_ENST00000399272.1_Missense_Mutation_p.V130M|RCAN1_ENST00000381132.2_Missense_Mutation_p.V156M|RCAN1_ENST00000487990.1_Missense_Mutation_p.V76M|RCAN1_ENST00000482533.1_Missense_Mutation_p.V76M|RCAN1_ENST00000313806.4_Missense_Mutation_p.V211M|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Missense_Mutation_p.V76M P53805 RCAN1_HUMAN regulator of calcineurin 1 211 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 TGGACCACCACGCTGGGAGTG 0.488000 18 81 0 0 1 0 0 RCN2 5955 broad.mit.edu 37 15 77228059 77228059 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:77228059G>T ENST00000394885.3 + 3 666 c.443G>T c.(442-444)aGg>aTg p.R148M RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.R148M NM_002902.2 NP_002893.1 Q14257 RCN2_HUMAN reticulocalbin 2, EF-hand calcium binding domain 148 endoplasmic reticulum lumen calcium ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(1) 7 GAGTCCTTTAGGAAGGTGAGT 0.428000 46 55 4.64027e-19 6.10741e-19 1 1 0 KRT2 3849 broad.mit.edu 37 12 53044263 53044263 + Silent SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:53044263G>T ENST00000309680.3 - 2 681 c.660C>A c.(658-660)acC>acA p.T220T NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 220 Linker 1.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TGATGGGGCGGGTGCCAACAT 0.517000 45 98 1.47857e-17 1.91439e-17 1 1 0 SIX2 10736 broad.mit.edu 37 2 45236244 45236244 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:45236244G>A ENST00000303077.6 - 1 325 c.6C>T c.(4-6)tcC>tcT p.S2S NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 2 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGGGCAGCATGGACATGGTGC 0.746000 10 5 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106116957 106116957 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:106116957G>T ENST00000357242.5 + 21 3299 c.3125G>T c.(3124-3126)gGa>gTa p.G1042V TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G1036V NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 1042 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCAGCCAAAGGATTCTCTGGT 0.458000 26 93 2.50493e-22 3.39684e-22 1 1 0 TRPC3 7222 broad.mit.edu 37 4 122833067 122833067 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:122833067G>T ENST00000264811.5 - 4 1722 c.1304C>A c.(1303-1305)aCa>aAa p.T435K TRPC3_ENST00000513531.1_Missense_Mutation_p.T380K|TRPC3_ENST00000379645.3_Missense_Mutation_p.T508K NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 423 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTCAGTCCATGTAAACTGGGT 0.373000 34 84 4.3181e-19 5.69385e-19 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5237123 5237123 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:5237123G>C ENST00000274181.7 + 14 2203 c.2065G>C c.(2065-2067)Gat>Cat p.D689H ADAMTS16_ENST00000513709.1_Intron NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 689 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AGAAGGATTTGATTTCTTCTT 0.343000 5 121 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14207053 14207053 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:14207053G>A ENST00000285021.7 - 6 868 c.654C>T c.(652-654)ttC>ttT p.F218F XPC_ENST00000449060.2_Silent_p.F181F NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 218 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TATTTCGATAGAAGCCATTTG 0.537000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 12 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125563287 125563287 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:125563287C>A ENST00000277309.2 + 1 918 c.886C>A c.(886-888)Cgc>Agc p.R296S NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 CCTCTGGAATCGCGATGTACA 0.607000 44 79 3.54909e-21 4.7587e-21 1 1 0 OR1J1 347168 broad.mit.edu 37 9 125240185 125240185 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:125240185G>T ENST00000259357.2 - 1 50 c.21C>A c.(19-21)agC>agA p.S7R NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 CGGACACGCTGCTCTGGTTCT 0.537000 15 181 1.49906e-05 1.60918e-05 1 1 0 ZNF530 348327 broad.mit.edu 37 19 58118033 58118033 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:58118033G>A ENST00000332854.6 + 3 1360 c.1140G>A c.(1138-1140)gaG>gaA p.E380E ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGCCTTATGAGTGTAGTGAAT 0.433000 17 77 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502298 140502298 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:140502298G>A ENST00000194152.1 + 1 718 c.718G>A c.(718-720)Gag>Aag p.E240K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 240 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGCTCCTGAGTTTGTGCA 0.507000 14 95 0 0 1 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235613563 235613563 + Silent SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:235613563C>G ENST00000366600.3 - 12 1689 c.1461G>C c.(1459-1461)ctG>ctC p.L487L NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 487 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) ACCGTTCCTTCAGTTTCCACA 0.488000 29 129 0 0 1 0 0 HBD 3045 broad.mit.edu 37 11 5255734 5255734 + Translation_Start_Site SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:5255734C>A ENST00000380299.3 - 0 144 NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGACTCTGCCCTGCCTTTTAT 0.453000 OREG0002368 type=REGULATORY REGION|Gene=HBB gene family|Dataset=CRMs in the HBB locus|EvidenceSubtype=Literature derived 14 20 4.36969e-10 5.14589e-10 1 1 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 88 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890738 15890738 + RNA SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:15890738G>A ENST00000587443.2 - 0 59 NR_033864.1 GGGCAGACAGGATGGAGGGTG 0.672000 3 19 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18975531 18975531 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:18975531C>A ENST00000406451.3 + 23 3044 c.2894C>A c.(2893-2895)tCa>tAa p.S965* HDAC9_ENST00000401921.1_Nonsense_Mutation_p.S924*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.S968*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.S965* NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 965 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGTGATGCATCAGAAGCCTGT 0.428000 43 157 4.67007e-22 6.30899e-22 1 1 0 RAG2 5897 broad.mit.edu 37 11 36614535 36614535 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:36614535C>A ENST00000311485.3 - 2 1345 c.1184G>T c.(1183-1185)gGt>gTt p.G395V NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 395 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTCATCATCACCATCAAAACT 0.398000 Familial Hemophagocytic Lymphohistiocytosis 18 116 5.3912e-06 5.85751e-06 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133187730 133187730 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:133187730C>T ENST00000388996.4 - 5 1323 c.903G>A c.(901-903)gaG>gaA p.E301E KCNQ3_ENST00000521134.1_Silent_p.E181E|KCNQ3_ENST00000519445.1_Silent_p.E301E NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 301 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGCATAGGTCTCAAACTCCT 0.507000 34 97 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16010677 16010677 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:16010677C>T ENST00000505450.1 - 11 1781 c.1169G>A c.(1168-1170)cGt>cAt p.R390H PROM1_ENST00000543373.1_Missense_Mutation_p.R390H|PROM1_ENST00000510224.1_Missense_Mutation_p.R399H|PROM1_ENST00000508167.1_Missense_Mutation_p.R390H|PROM1_ENST00000447510.2_Missense_Mutation_p.R399H|PROM1_ENST00000540805.1_Missense_Mutation_p.R399H|PROM1_ENST00000539194.1_Missense_Mutation_p.R399H NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 399 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AATAGGAAGACGCTGAGTTAC 0.353000 3 17 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31242827 31242827 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:31242827G>C ENST00000407793.2 + 9 1139 c.888G>C c.(886-888)aaG>aaC p.K296N DDX11_ENST00000228264.6_Missense_Mutation_p.K270N|DDX11_ENST00000545668.1_Missense_Mutation_p.K296N|DDX11_ENST00000542838.1_Missense_Mutation_p.K296N|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.K296N NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 296 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CAGAGAAGAAGAAAGGAGCTG 0.567000 Multiple Myeloma(12;0.14) 3 18 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224505445 224505445 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:224505445C>T ENST00000281701.6 - 4 494 c.235G>A c.(235-237)Gaa>Aaa p.E79K NVL_ENST00000340871.4_5'UTR|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.E79K|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000391875.2_5'UTR NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 79 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TGTTCATCTTCTAATTCTGTT 0.308000 6 38 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964856 119964856 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:119964856G>T ENST00000543831.1 + 4 981 c.732G>T c.(730-732)aaG>aaT p.K244N HSD3B2_ENST00000369416.3_Missense_Mutation_p.K244N NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 244 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) ACCCCAAGAAGGCCCCAAGTG 0.507000 24 115 1.22574e-08 1.41325e-08 1 1 0 ITPR2 3709 broad.mit.edu 37 12 26812073 26812073 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:26812073C>A ENST00000381340.3 - 16 2275 c.1859G>T c.(1858-1860)aGt>aTt p.S620I NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 620 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CCTGAGTAAACTGACAAATGT 0.338000 30 34 1.23537e-32 1.76201e-32 1 1 0 AKT3 10000 broad.mit.edu 37 1 243708818 243708818 + Silent SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:243708818A>G ENST00000366539.1 - 12 1445 c.1245T>C c.(1243-1245)gaT>gaC p.D415D AKT3_ENST00000336199.5_Silent_p.D415D|AKT3_ENST00000263826.5_Silent_p.D415D|AKT3_ENST00000366540.1_Silent_p.D415D Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 415 AGC-kinase C-terminal. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TTACCTTTTTATCATATACAT 0.313000 14 45 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47389641 47389641 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:47389641C>A ENST00000285039.7 - 29 4199 c.3900G>T c.(3898-3900)caG>caT p.Q1300H MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.Q441H NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1300 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGGCATCCTCCTGGTCAACAT 0.522000 67 79 2.6465e-34 3.81267e-34 1 1 0 C1orf51 148523 broad.mit.edu 37 1 150258956 150258956 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:150258956C>A ENST00000290363.5 + 5 1197 c.748C>A c.(748-750)Ctc>Atc p.L250I C1orf51_ENST00000369094.1_Missense_Mutation_p.L162I|C1orf51_ENST00000369095.1_Missense_Mutation_p.L250I NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 250 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GCCTTGGCACCTCACACAATG 0.517000 53 177 1.39843e-22 1.91083e-22 1 1 0 LRIT1 26103 broad.mit.edu 37 10 85992336 85992336 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:85992336G>C ENST00000372105.3 - 4 1240 c.1219C>G c.(1219-1221)Ctt>Gtt p.L407V NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 407 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 AAGTGCTCAAGGGTCAGCTCC 0.607000 43 36 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47552452 47552452 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:47552452C>T ENST00000300527.4 + 28 3150 c.3046C>T c.(3046-3048)Cgc>Tgc p.R1016C NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 1016 Nonhelical region. 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) CCGCTTCATCCGCTGGATCTG 0.701000 11 23 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179302958 179302958 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:179302958T>C ENST00000356834.3 - 11 1899 c.1862A>G c.(1861-1863)gAg>gGg p.E621G TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E621G NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 621 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCATGCGCTCGCACAGGGC 0.647000 7 12 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2578101 2578101 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:2578101C>T ENST00000340611.4 - 14 2324 c.2068G>A c.(2068-2070)Gag>Aag p.E690K BRAT1_ENST00000473879.1_5'UTR NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 690 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CTCAGTGCCTCGGTGAGTGGC 0.657000 4 67 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52380549 52380549 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:52380549C>A ENST00000420592.1 - 5 1602 c.269G>T c.(268-270)aGt>aTt p.S90I ZNF577_ENST00000301399.5_Missense_Mutation_p.S90I|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Missense_Mutation_p.S90I|ZNF577_ENST00000412216.1_Missense_Mutation_p.S90I Q9BSK1 ZN577_HUMAN zinc finger protein 577 289 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) ACAGATTTGACTGTGGGCTGC 0.488000 28 91 1.88708e-17 2.43451e-17 1 1 0 GALR2 8811 broad.mit.edu 37 17 74072914 74072914 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:74072914T>C ENST00000329003.3 + 2 656 c.566T>C c.(565-567)aTc>aCc p.I189T NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 189 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GCCATGGACATCTGCACCTTC 0.682000 19 34 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191933 152191933 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:152191933G>A ENST00000368801.2 - 3 2247 c.2172C>T c.(2170-2172)tcC>tcT p.S724S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 724 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) TTCTGTAGCCGGAGGAGTGAC 0.542000 32 419 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559842 33559842 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:33559842T>C ENST00000228567.3 - 3 1255 c.959A>G c.(958-960)gAt>gGt p.D320G SYT10_ENST00000535526.1_Missense_Mutation_p.D139G NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 320 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TCTGTCAAAATCATACACACT 0.358000 6 61 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069802 114069802 + Missense_Mutation SNP A A C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:114069802A>C ENST00000462705.1 - 11 1725 c.904T>G c.(904-906)Ttc>Gtc p.F302V ZBTB20_ENST00000471418.1_Missense_Mutation_p.F302V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.F302V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.F375V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.F302V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.F302V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.F302V NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CCCGAGTCGAAGCTTTCACCT 0.642000 9 51 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237422 30237422 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:30237422G>T ENST00000378988.4 + 2 826 c.725G>T c.(724-726)gGg>gTg p.G242V NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 242 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TCAGTCTTTGGGGAACCCTGG 0.488000 8 21 0.27861 0.279 1 1 0 GK2 2712 broad.mit.edu 37 4 80329050 80329050 + Missense_Mutation SNP T T C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:80329050T>C ENST00000358842.3 - 1 322 c.305A>G c.(304-306)aAg>aGg p.K102R NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 102 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TCCTGTTAACTTGTCCCAGAT 0.413000 43 124 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179504834 179504834 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:179504834G>A ENST00000589042.1 - 222 40951 c.40727C>T c.(40726-40728)cCt>cTt p.P13576L TTN_ENST00000359218.5_Missense_Mutation_p.P4636L|TTN_ENST00000342992.6_Missense_Mutation_p.P11008L|TTN_ENST00000342175.6_Missense_Mutation_p.P4703L|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11935L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4511L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11935 Ig-like 92. 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) CTTGATTTCAGGCACTGAAAT 0.398000 31 112 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413090 124413090 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:124413090C>A ENST00000306842.2 - 1 485 c.461G>T c.(460-462)gGg>gTg p.G154V NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GGCCATGGCCCCAGCAAACCC 0.517000 90 51 2.38877e-28 3.37349e-28 1 1 0 RPL10L 140801 broad.mit.edu 37 14 47120371 47120371 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:47120371A>G ENST00000298283.3 - 1 657 c.569T>C c.(568-570)cTc>cCc p.L190P NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 190 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 ATCAGGGATGAGGCACTTCTT 0.498000 10 69 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22134212 22134212 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:22134212G>T ENST00000408935.1 + 1 916 c.916G>T c.(916-918)Gtt>Ttt p.V306F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCAGAGACAAGTTTTTTTCAC 0.408000 12 49 2.80697e-09 3.27328e-09 1 1 0 THSD7B 80731 broad.mit.edu 37 2 137814159 137814159 + Silent SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:137814159C>G ENST00000409968.1 + 3 487 c.309C>G c.(307-309)ctC>ctG p.L103L THSD7B_ENST00000413152.2_Silent_p.L72L|THSD7B_ENST00000272643.3_Silent_p.L103L 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) ACAGTGACCTCTTTCAGTGGG 0.532000 16 32 0 0 1 0 0 STX7 8417 broad.mit.edu 37 6 132781962 132781962 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:132781962T>A ENST00000367941.2 - 10 834 c.721A>T c.(721-723)Atc>Ttc p.I241F NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 241 intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ATAAGAATGATGATGCACAGG 0.393000 45 34 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954657 34954657 + Splice_Site SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:34954657G>C ENST00000382021.2 + 13 1796 c.e13-1 DNAJC21_ENST00000303525.7_Splice_Site|DNAJC21_ENST00000342382.4_Splice_Site NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GCCCTTCTCAGAGTGTTCTTA 0.343000 13 148 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219444 155219444 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:155219444C>A ENST00000357232.3 - 18 4656 c.4657G>T c.(4657-4659)Gtg>Ttg p.V1553L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1553 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCTCTGGCCACAGCACTAAAT 0.443000 32 95 1.56442e-22 2.12951e-22 1 1 0 FUT1 2523 broad.mit.edu 37 19 49254139 49254139 + Nonsense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:49254139C>A ENST00000310160.3 - 4 1374 c.400G>T c.(400-402)Gaa>Taa p.E134* NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 134 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) CTGTCCACTTCTGGGGCCAGC 0.657000 36 111 3.21987e-24 4.42501e-24 1 1 0 JAK3 3718 broad.mit.edu 37 19 17943723 17943723 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:17943723G>A ENST00000458235.1 - 18 2465 c.2366C>T c.(2365-2367)tCa>tTa p.S789L JAK3_ENST00000527670.1_Missense_Mutation_p.S789L|JAK3_ENST00000534444.1_Missense_Mutation_p.S789L NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 789 B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 TGTGGGGTCTGAGAGGAGCTC 0.612000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 8 29 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28294353 28294353 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:28294353C>G ENST00000414429.1 - 8 1714 c.811G>C c.(811-813)Gaa>Caa p.E271Q ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E271Q|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E112Q|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E271Q|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E271Q zinc finger and SCAN domain containing 31 TTCCCACATTCTTCACATTCA 0.498000 28 168 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235345665 235345665 + Missense_Mutation SNP T T G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:235345665T>G ENST00000264183.3 - 20 3066 c.2569A>C c.(2569-2571)Agt>Cgt p.S857R ARID4B_ENST00000349213.3_Missense_Mutation_p.S771R|ARID4B_ENST00000366603.2_Missense_Mutation_p.S857R NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 857 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTGTTGCTACTGTTTTCCATG 0.368000 63 71 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656625 19656625 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:19656625G>T ENST00000586018.1 + 8 3391 c.3289G>T c.(3289-3291)Gag>Tag p.E1097* CILP2_ENST00000291495.4_Nonsense_Mutation_p.E1091* Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1091 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CTTCTCCAGAGAGATGAAGGC 0.632000 11 21 1.5842e-08 1.82361e-08 1 1 0 TGM4 7047 broad.mit.edu 37 3 44929214 44929214 + Missense_Mutation SNP T T A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:44929214T>A ENST00000296125.4 + 3 295 c.227T>A c.(226-228)gTg>gAg p.V76E NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 76 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CACACCCTGGTGGTGCTCGAC 0.597000 16 21 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119382705 119382705 + Silent SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:119382705C>G ENST00000313400.4 - 18 3190 c.3090G>C c.(3088-3090)ctG>ctC p.L1030L ASTN2_ENST00000358637.4_Silent_p.L82L|ASTN2_ENST00000373996.3_Silent_p.L1026L|ASTN2_ENST00000288520.5_Silent_p.L131L|ASTN2_ENST00000361477.3_Silent_p.L82L|ASTN2_ENST00000361209.2_Silent_p.L979L|ASTN2_ENST00000341734.4_Silent_p.L82L O75129 ASTN2_HUMAN astrotactin 2 1030 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGGAACTCATCAGTGCACTCT 0.507000 31 206 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13959923 13959923 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr8:13959923A>T ENST00000382080.1 - 7 1421 c.706T>A c.(706-708)Tgc>Agc p.C236S SGCZ_ENST00000421524.2_Missense_Mutation_p.C189S NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 223 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TCCTTCCTGCAGGTGGCCTTG 0.522000 12 43 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605965 5605965 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrY:5605965G>T ENST00000215473.6 + 6 4005 c.4005G>T c.(4003-4005)atG>atT p.M1335I Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1335 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 CCCCCATTATGGAAACACATC 0.368000 35 40 5.8336e-16 7.37961e-16 1 1 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744268 31744268 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:31744268G>A ENST00000399889.2 - 1 289 c.264C>T c.(262-264)ctC>ctT p.L88L NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 88 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 AAGGACTGCAGAGCAAGGAGG 0.612000 25 85 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256560 9256560 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr18:9256560A>G ENST00000383440.2 + 8 3483 c.3226A>G c.(3226-3228)Aag>Gag p.K1076E ANKRD12_ENST00000262126.3_Missense_Mutation_p.K1099E|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K1076E NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1099 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CAAAAAACATAAGGAAAAAAT 0.308000 26 101 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4311958 4311958 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:4311958C>T ENST00000221856.6 + 7 757 c.610C>T c.(610-612)Cgg>Tgg p.R204W FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R204W NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 204 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGTACCGGCGGACCAACTT 0.627000 10 15 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38060894 38060894 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:38060894C>T ENST00000250448.2 - 2 1156 c.1095G>A c.(1093-1095)ggG>ggA p.G365G FOXA1_ENST00000540786.1_Silent_p.G332G|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 365 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AGGCCAGCGCCCCGGGCCCGG 0.692000 4 5 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14499618 14499618 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:14499618G>A ENST00000242786.5 + 3 258 c.178G>A c.(178-180)Gag>Aag p.E60K CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.E60K|CD97_ENST00000357355.3_Missense_Mutation_p.E60K NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 60 EGF-like 1. cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CACCCCGACGGAGACTTGTGA 0.602000 73 283 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412087 77412087 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:77412087C>T ENST00000308488.6 - 6 2489 c.2187G>A c.(2185-2187)caG>caA p.Q729Q RSF1_ENST00000480887.1_Silent_p.Q477Q|RSF1_ENST00000360355.2_Silent_p.Q698Q Q96T23 RSF1_HUMAN remodeling and spacing factor 1 729 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TGCCCTCTTTCTGCCTTTCAG 0.398000 60 87 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130285904 130285904 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:130285904C>A ENST00000358511.6 + 4 1672 c.1641C>A c.(1639-1641)ggC>ggA p.G547G COL6A6_ENST00000453409.2_Silent_p.G547G NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 547 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGACAAATGGCATGTCCAAGG 0.483000 43 60 3.43241e-23 4.69906e-23 1 1 0 ATF4P4 100127952 broad.mit.edu 37 11 113661633 113661633 + RNA SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr11:113661633C>T ENST00000393544.2 + 0 1681 GACTCCACTGCTTACGTTGCC 0.507000 29 16 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102367 168102367 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:168102367C>A ENST00000409195.1 + 9 4554 c.4465C>A c.(4465-4467)Cag>Aag p.Q1489K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1489K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1267K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1314 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGATGTTAAGCAGGCTGTGTG 0.388000 25 75 3.28513e-13 4.02766e-13 1 1 0 OR2L13 284521 broad.mit.edu 37 1 248263133 248263133 + Silent SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:248263133C>A ENST00000366478.2 + 3 793 c.456C>A c.(454-456)tcC>tcA p.S152S OR2L13_ENST00000358120.2_Silent_p.S152S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CACTGGGGTCCATCAACTCCT 0.483000 69 293 4.98926e-31 7.07388e-31 1 1 0 KCNJ3 3760 broad.mit.edu 37 2 155555596 155555596 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:155555596G>T ENST00000295101.2 + 1 786 c.309G>T c.(307-309)tgG>tgT p.W103C KCNJ3_ENST00000544049.1_Missense_Mutation_p.W103C NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 103 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CCATGTGGTGGGTGATCGCCT 0.557000 20 55 2.27731e-05 2.4373e-05 1 1 0 DISP1 84976 broad.mit.edu 37 1 223177746 223177746 + Missense_Mutation SNP A A C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:223177746A>C ENST00000284476.6 + 8 3171 c.3007A>C c.(3007-3009)Act>Cct p.T1003P NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1003 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GCTGCTGACAACTTGGAACAT 0.483000 44 88 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24805493 24805493 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr14:24805493G>A ENST00000216274.5 - 10 1663 c.1445C>T c.(1444-1446)tCg>tTg p.S482L RP11-934B9.3_ENST00000555591.1_Intron NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 482 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity p.S482L(1) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CCCCTTGCCCGAAGGTGCCAA 0.542000 30 77 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49484845 49484845 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:49484845G>A ENST00000323798.3 - 8 1307 c.1111C>T c.(1111-1113)Cgg>Tgg p.R371W GYS1_ENST00000541188.1_Missense_Mutation_p.R291W|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Missense_Mutation_p.R4W|GYS1_ENST00000263276.6_Missense_Mutation_p.R307W NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 371 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TTGTTGGTCCGCGCTGGCATG 0.602000 13 47 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148627386 148627386 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:148627386G>A ENST00000506113.1 + 17 2075 c.1593G>A c.(1591-1593)atG>atA p.M531I ABLIM3_ENST00000356541.3_Missense_Mutation_p.M420I|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.M436I|ABLIM3_ENST00000508983.1_Missense_Mutation_p.M498I|ABLIM3_ENST00000309868.7_Missense_Mutation_p.M531I|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.M17I|ABLIM3_ENST00000504238.1_Missense_Mutation_p.M420I O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 531 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAAGAAATGAAGGCCCGGT 0.557000 9 53 0 0 1 0 0 METTL1 4234 broad.mit.edu 37 12 58164900 58164900 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:58164900C>A ENST00000324871.7 - 2 960 c.251G>T c.(250-252)gGc>gTc p.G84V METTL1_ENST00000548681.1_5'UTR|METTL1_ENST00000257848.7_Missense_Mutation_p.G84V NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 84 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) ATAGCCACAGCCTATGTCTGC 0.517000 15 31 8.60227e-14 1.06011e-13 1 1 0 HIST1H2AI 8329 broad.mit.edu 37 6 27776296 27776296 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:27776296C>T ENST00000358739.3 + 1 398 c.309C>T c.(307-309)atC>atT p.I103I NM_003509.2 NP_003500.1 histone cluster 1, H2ai lung(3) 3 AAGTCACCATCGCACAGGGTG 0.592000 14 90 0 0 1 0 0 ADAL 161823 broad.mit.edu 37 15 43638098 43638098 + Nonsense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr15:43638098G>T ENST00000422466.2 + 9 1046 c.472G>T c.(472-474)Gag>Tag p.E158* ADAL_ENST00000389651.4_Nonsense_Mutation_p.E158*|ADAL_ENST00000562188.1_Nonsense_Mutation_p.E158*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.E158* Q6DHV7 ADAL_HUMAN adenosine deaminase-like 158 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) AGTAGCCAAGGAGACTGTAAA 0.413000 34 51 1.836e-18 2.40325e-18 1 1 0 CILP2 148113 broad.mit.edu 37 19 19654530 19654530 + Nonsense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:19654530C>G ENST00000586018.1 + 8 1296 c.1194C>G c.(1192-1194)taC>taG p.Y398* CILP2_ENST00000291495.4_Nonsense_Mutation_p.Y392* Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 392 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCCGAGAGTACCTGATCAAGC 0.662000 9 549 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133226011 133226011 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:133226011C>T ENST00000320574.5 - 31 3929 c.3886G>A c.(3886-3888)Gag>Aag p.E1296K POLE_ENST00000535270.1_Missense_Mutation_p.E1269K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1296 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCTGCCGACTCCAGACGCTGC 0.667000 DNA polymerases (catalytic subunits) 23 69 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 5 7 --- --- --- --- DYNC1I2 1781 broad.mit.edu 37 2 172584813 172584813 + Splice_Site DEL A A - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:172584813delA ENST00000534253.2 + 13 1311 c.e13-1 DYNC1I2_ENST00000263811.4_Splice_Site|DYNC1I2_ENST00000508530.1_Splice_Site|DYNC1I2_ENST00000409453.1_Splice_Site|DYNC1I2_ENST00000358002.6_Splice_Site|DYNC1I2_ENST00000409317.1_Splice_Site|DYNC1I2_ENST00000409773.1_Splice_Site|DYNC1I2_ENST00000409197.1_Splice_Site|DYNC1I2_ENST00000340296.4_Splice_Site|DYNC1I2_ENST00000410079.3_Splice_Site|DYNC1I2_ENST00000397119.3_Splice_Site Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) TAATATCTCTAGCACCCTGTA 0.313 4 7 --- --- --- --- ITGA4 3676 broad.mit.edu 37 2 182347354 182347355 + Frame_Shift_Ins INS - - T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr2:182347354_182347355insT ENST00000397033.2 + 9 1447_1448 c.1017_1018insT c.(1015-1020)gtttgtfs p.C340fs NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 340 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAGGAAGAGTGTTTGTGTACAT 0.475 45 140 --- --- --- --- CHST2 9435 broad.mit.edu 37 3 142840098 142840098 + Frame_Shift_Del DEL C C - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr3:142840098delC ENST00000309575.3 + 2 1824 c.440delC c.(439-441)ggfs p.A148fs NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 148 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GCGGGGGTTGCGGCCCCTCCA 0.721 8 9 --- --- --- --- LOC101927237 101927237 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- MROH2B 133558 broad.mit.edu 37 5 41058230 41058230 + Frame_Shift_Del DEL G G - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr5:41058230delG ENST00000399564.4 - 7 1141 c.691delC c.(691-693)tgfs p.L231fs MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.L231M(1) ACCTGGCCCAGGGCGTATCCA 0.522 8 77 --- --- --- --- PRRT1 80863 broad.mit.edu 37 6 32118410 32118410 + Frame_Shift_Del DEL G G - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:32118410delG ENST00000211413.5 - 2 417 c.293delC c.(292-294)cafs p.P99fs PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 99 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GCAGCCGGGTGGGGGTGCCCC 0.776 2 4 --- --- --- --- GPR111 222611 broad.mit.edu 37 6 47650193 47650204 + In_Frame_Del DEL CCATTGGCAATT CCATTGGCAATT - rs112845439 TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr6:47650193_47650204delCCATTGGCAATT ENST00000398742.2 + 5 1743_1754 c.1694_1705delCCATTGGCAATT c.(1693-1707)gcc>g p.AIGNS565del GPR111_ENST00000507065.1_In_Frame_Del_p.AIGNS565del|GPR111_ENST00000296862.1_In_Frame_Del_p.AIGNS633del Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 633 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CAGCGAGCTGCCATTGGCAATTCCATGTTCCA 0.524 15 55 --- --- --- --- PNPLA8 50640 broad.mit.edu 37 7 108154677 108154679 + In_Frame_Del DEL TTC TTC - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr7:108154677_108154679delTTC ENST00000426128.2 - 3 1240_1242 c.1115_1117delGAA c.(1114-1119)aca>a p.RT372del PNPLA8_ENST00000453144.1_In_Frame_Del_p.RT272del|PNPLA8_ENST00000422087.1_In_Frame_Del_p.RT372del|PNPLA8_ENST00000388728.5_In_Frame_Del_p.RT372del|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_In_Frame_Del_p.RT372del|PNPLA8_ENST00000436062.1_In_Frame_Del_p.RT372del NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 372 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 GGGTCAGTTGTTCTTCTTAATGC 0.369 42 530 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 7 60 --- --- --- --- USP6NL 9712 broad.mit.edu 37 10 11505333 11505334 + Frame_Shift_Ins INS - - C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr10:11505333_11505334insC ENST00000379237.1 - 15 1987_1988 c.1593_1594insG c.(1591-1596)cgcaaafs p.K532fs USP6NL_ENST00000277575.5_Frame_Shift_Ins_p.K549fs NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 532 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TTCATCTTTGGCCGCACGTTTG 0.644 27 274 --- --- --- --- ATF7IP 55729 broad.mit.edu 37 12 14577503 14577504 + Frame_Shift_Ins INS - - C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr12:14577503_14577504insC ENST00000544627.1 + 2 998_999 c.678_679insC c.(676-681)gaccatfs p.H227fs ATF7IP_ENST00000543189.1_Frame_Shift_Ins_p.H219fs|ATF7IP_ENST00000536444.1_Frame_Shift_Ins_p.H219fs|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Frame_Shift_Ins_p.H219fs|ATF7IP_ENST00000540793.1_Frame_Shift_Ins_p.H219fs Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 219 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TCCCTGTTGAACCCATTTCTGG 0.530 82 83 --- --- --- --- KRT37 8688 broad.mit.edu 37 17 39578596 39578596 + Frame_Shift_Del DEL C C - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr17:39578596delC ENST00000225550.3 - 4 822 c.823delG c.(823-825)agfs p.E275fs AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 275 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GCCCGCATCTCCCCCAACACC 0.562 109 124 --- --- --- --- SIX5 147912 broad.mit.edu 37 19 46271640 46271641 + Frame_Shift_Ins INS - - G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:46271640_46271641insG ENST00000317578.6 - 1 843_844 c.462_463insC c.(460-465)gccccafs p.AP154fs AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA NM_175875.4 NP_787071.2 Q8N196 SIX5_HUMAN SIX homeobox 5 154 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) GCGTGGTGGGCGGCGGGGAAGG 0.733 7 13 --- --- --- --- LIM2 3982 broad.mit.edu 37 19 51885780 51885780 + Frame_Shift_Del DEL G G - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr19:51885780delG ENST00000221973.3 - 3 385 c.343delC c.(343-345)tafs p.L115fs LIM2_ENST00000596399.1_Frame_Shift_Del_p.L73fs NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 73 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) ATGGCGCATAGGGCAGACAGG 0.577 28 75 --- --- --- --- ADAMTS5 11096 broad.mit.edu 37 21 28337882 28337882 + Frame_Shift_Del DEL C C - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:28337882delC ENST00000284987.5 - 1 950 c.829delG c.(829-831)cgfs p.A277fs NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 277 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCCATGGACGCGTCAGCCACC 0.682 12 40 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37571434 37571434 + Frame_Shift_Del DEL C C - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:37571434delC ENST00000399151.3 + 3 290 c.205delC c.(205-207)agfs p.Q69fs DOPEY2_ENST00000492760.1_Intron NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 69 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAGATTAGCTCAGTGTTTGCA 0.473 25 101 --- --- --- --- RRP1 8568 broad.mit.edu 37 21 45215133 45215134 + Splice_Site INS - - G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chr21:45215133_45215134insG ENST00000497547.1 + 5 539 c.e5+2 NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GGAAGAAAGGTGGGTGCGCGGC 0.540 42 120 --- --- --- --- BCAP31 10134 broad.mit.edu 37 X 152968459 152968459 + Frame_Shift_Del DEL C C - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd097196-01a6-43dc-976f-4f9c5221f384 310ce1a5-5291-425e-8f7e-9772a7eb9d4a g.chrX:152968459delC ENST00000458587.2 - 6 1162 c.733delG c.(733-735)agfs p.E247fs BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000345046.6_Frame_Shift_Del_p.E180fs|BCAP31_ENST00000441714.1_Frame_Shift_Del_p.E180fs NM_001139441.1|NM_001139457.2 NP_001132913.1|NP_001132929.1 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 180 cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTCTCTTCCTCCAACTTCACC 0.582 88 303 --- --- --- ---