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 PAFAH2 5051 broad.mit.edu 37 1 26314754 26314754 + Missense_Mutation SNP C C G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr1:26314754C>G uc001bld.4 - 3 489 c.309G>C c.(307-309)ttG>ttC p.L103F PAFAH2_uc001ble.4_Missense_Mutation_p.L103F NM_000437 NP_000428 Q99487 PAFA2_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA. 103 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) AGAAGATGATCAAGGGGTATC 0.517 PAFAH2 5051 broad.mit.edu 37 1 26315958 26315958 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr1:26315958C>T uc001bld.4 - 2 405 c.225G>A c.(223-225)ttG>ttA p.L75L PAFAH2_uc001ble.4_Silent_p.L75L NM_000437 NP_000428 Q99487 PAFA2_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA. 75 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) GGTTGAACAGCAAGCCCCCGC 0.592 HEATR1 55127 broad.mit.edu 37 1 236720633 236720633 + Silent SNP C C T rs138638506 byFrequency TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr1:236720633C>T uc001hyd.2 - 36 5369 c.5217G>A c.(5215-5217)tcG>tcA p.S1739S HEATR1_uc009xgh.2_Silent_p.S901S NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1739 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGTCAGCAACGATGGCATCA 0.498 RYR2 6262 broad.mit.edu 37 1 237540686 237540686 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr1:237540686G>A uc001hyl.1 + 7 647 c.527G>A c.(526-528)cGa>cAa p.R176Q NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 176 MIR 2. R -> Q (in ARVD2 and CPVT1). 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) GAAAAAGTACGAGTTGGAGAT 0.438 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453 CHAT 1103 broad.mit.edu 37 10 50835688 50835688 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr10:50835688G>A uc001jhz.2 + 6 1121 c.968G>A c.(967-969)cGt>cAt p.R323H CHAT_uc001jhv.1_Missense_Mutation_p.R205H|CHAT_uc001jhx.1_Missense_Mutation_p.R205H|CHAT_uc001jhy.1_Missense_Mutation_p.R205H|CHAT_uc001jia.2_Missense_Mutation_p.R241H|CHAT_uc010qgs.1_Missense_Mutation_p.R205H NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 323 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.R323H(4) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AATTTCCGCCGTCTCAGTGAG 0.512 TYSND1 219743 broad.mit.edu 37 10 71905207 71905207 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr10:71905207G>A uc001jqr.3 - 0 1290 c.1136C>T c.(1135-1137)gCc>gTc p.A379V TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.A379V|TYSND1_uc001jqt.3_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA. 379 Serine protease. proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CAGGACCCTGGCTGCTTCCCG 0.647 KIAA0913 23053 broad.mit.edu 37 10 75560906 75560906 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr10:75560906C>T uc001jvj.3 + 24 5426 c.5171C>T c.(5170-5172)cCc>cTc p.P1724L KIAA0913_uc001jve.3_Missense_Mutation_p.P1760S|KIAA0913_uc009xrl.3_Missense_Mutation_p.P1755S|KIAA0913_uc001jvf.3_Missense_Mutation_p.P1573S|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.P1182S|KIAA0913_uc010qkr.2_Missense_Mutation_p.P1170S NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 0 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) CCTGCGTGCCCCGGCCTTCCA 0.622 PTEN 5728 broad.mit.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr10:89720799_89720802delTACT uc001kfb.3 + 7 1982_1985 c.950_953delTACT c.(949-954)gtacttfs p.V317fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 317 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L318fs*2(49)|p.0?(37)|p.T319fs*1(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.V317fs*6(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.L318F(2)|p.T318fs*2(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GAATATCTAGTACTTACTTTAACA 0.333 V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) CNNM2 54805 broad.mit.edu 37 10 104678301 104678301 + Missense_Mutation SNP C C G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr10:104678301C>G uc001kwm.3 + 0 227 c.64C>G c.(64-66)Ctg>Gtg p.L22V CNNM2_uc001kwn.3_Missense_Mutation_p.L22V|CNNM2_uc001kwl.3_Missense_Mutation_p.L22V NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA. 22 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AGCCGCCGCACTGCCCACTTG 0.687 OR51F1 256892 broad.mit.edu 37 11 4790251 4790251 + Missense_Mutation SNP T T A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr11:4790251T>A uc010qyl.2 - 0 897 c.897A>T c.(895-897)aaA>aaT p.K299N NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA. 299 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCGGATTTGTTTTGTTTTTA 0.438 TEAD1 7003 broad.mit.edu 37 11 12901370 12901370 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr11:12901370C>T uc021qdx.1 + 5 1066 c.446C>T c.(445-447)aCc>aTc p.T149I TEAD1_uc001mkk.4_Missense_Mutation_p.T53I|TEAD1_uc009ygl.3_Missense_Mutation_p.T28I NM_021961 NP_068780 P28347 TEAD1_HUMAN Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA. 149 Pro-rich. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCACGCCCGACCTTCCCAGGG 0.612 OR5W2 390148 broad.mit.edu 37 11 55681774 55681774 + Silent SNP A A G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr11:55681774A>G uc010rir.2 - 0 285 c.285T>C c.(283-285)taT>taC p.Y95Y NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y95*(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAGCACAGCCATAGAAGGGTA 0.463 OR5M3 219482 broad.mit.edu 37 11 56237921 56237921 + Missense_Mutation SNP C C T rs142752109 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr11:56237921C>T uc010rjk.2 - 0 94 c.53G>A c.(52-54)cGt>cAt p.R18H OR8U8_uc001nit.2_Intron NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R18H(2)|p.S17S(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CCATTCTCGACGGCTCGTTAG 0.398 CD248 57124 broad.mit.edu 37 11 66084085 66084085 + Silent SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr11:66084085G>A uc001ohm.1 - 0 431 c.414C>T c.(412-414)ggC>ggT p.G138G NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 138 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) AGCGGTGCTCGCCACTTGCCT 0.706 C1S 716 broad.mit.edu 37 12 7177424 7177424 + Silent SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr12:7177424G>A uc001qsj.3 + 14 2255 c.1536G>A c.(1534-1536)ccG>ccA p.P512P C1S_uc001qsk.3_Silent_p.P512P|C1S_uc001qsl.3_Silent_p.P512P|C1S_uc009zfr.3_Silent_p.P345P|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 512 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.P512L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTATTCATCCGGGATGGAAGC 0.507 A2M 2 broad.mit.edu 37 12 9254170 9254170 + Missense_Mutation SNP T T C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr12:9254170T>C uc001qvk.1 - 11 1480 c.1367A>G c.(1366-1368)aAg>aGg p.K456R A2M_uc009zgk.1_Missense_Mutation_p.K306R NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 456 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GACAAAGCTCTTGCTTGGGGA 0.507 KRT74 121391 broad.mit.edu 37 12 52964563 52964563 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr12:52964563C>T uc001sap.1 - 4 946 c.898G>A c.(898-900)Gac>Aac p.D300N NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 300 Linker 12.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CGGTTGTTGTCCATGGACAGG 0.572 FLT3 2322 broad.mit.edu 37 13 28644701 28644701 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr13:28644701G>A uc001urw.3 - 1 174 c.92C>T c.(91-93)cCt>cTt p.P31L FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P31L NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 31 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.P31L(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTTGATCACAGGCAGATCTTG 0.299 """Mis, O""" """AML, ALL""" C14orf183 196913 broad.mit.edu 37 14 50550652 50550652 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr14:50550652C>T uc010tqk.2 - 4 692 c.692G>A c.(691-693)cGc>cAc p.R231H NM_001014830 NP_001014830 Q8WXQ3 CN183_HUMAN Homo sapiens chromosome 14 open reading frame 183 (C14orf183), mRNA. 231 endometrium(2)|large_intestine(2)|lung(3) 7 CTCTTGGAGGCGAGGTGGGGC 0.662 GPR65 8477 broad.mit.edu 37 14 88478002 88478002 + Missense_Mutation SNP A A T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr14:88478002A>T uc021rxh.1 + 0 811 c.811A>T c.(811-813)Atg>Ttg p.M271L GPR65_uc001xvv.3_Missense_Mutation_p.M271L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 271 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AACTTACACAATGTATAGAAT 0.383 SERPINA1 5265 broad.mit.edu 37 14 94845837 94845837 + Silent SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr14:94845837G>A uc001ycy.4 - 5 1583 c.1029C>T c.(1027-1029)tcC>tcT p.S343S SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.S343S|SERPINA1_uc010auy.3_Silent_p.S343S|SERPINA1_uc001ycz.4_Silent_p.S343S|SERPINA1_uc010auz.3_Silent_p.S343S|SERPINA1_uc010ava.3_Silent_p.S343S|SERPINA1_uc001ydb.4_Silent_p.S343S|SERPINA1_uc010avb.3_Silent_p.S343S|SERPINA1_uc001ydc.4_Silent_p.S343S|SERPINA1_uc010auw.3_Silent_p.S343S|SERPINA1_uc010aux.3_Silent_p.S343S|SERPINA1_uc001yda.1_Silent_p.S343S NM_001002236 NP_001121179 P01009 A1AT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA. 343 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) CTGTGACCCCGGAGAGGTCAG 0.542 TCL1B 9623 broad.mit.edu 37 14 96152931 96152931 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr14:96152931C>T uc001yfa.3 + 0 178 c.127C>T c.(127-129)Cgt>Tgt p.R43C TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Missense_Mutation_p.R43C NM_004918 NP_004909 O95988 TCL1B_HUMAN Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA. 43 p.S42S(1) cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CAATCCCTCGCGTAGGGAATG 0.672 AHNAK2 113146 broad.mit.edu 37 14 105420774 105420774 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr14:105420774C>T uc010axc.1 - 6 1134 c.1014G>A c.(1012-1014)tcG>tcA p.S338S AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.S238S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 338 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTGTCCTGTCGATGAAGGGC 0.667 GPR132 29933 broad.mit.edu 37 14 105517549 105517549 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr14:105517549C>T uc001yqd.3 - 3 1824 c.925G>A c.(925-927)Gtg>Atg p.V309M GPR132_uc001yqc.3_Missense_Mutation_p.V121M|GPR132_uc001yqe.3_Missense_Mutation_p.V300M NM_013345 NP_037477 Q9UNW8 GP132_HUMAN Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA. 309 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GTGGCCAGCACGTAGATAATG 0.577 MYH11 4629 broad.mit.edu 37 16 15835524 15835524 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr16:15835524C>T uc002ddx.3 - 22 2783 c.2676G>A c.(2674-2676)ctG>ctA p.L892L MYH11_uc002ddv.3_Silent_p.L892L|MYH11_uc002ddw.3_Silent_p.L885L|MYH11_uc002ddy.3_Silent_p.L885L|MYH11_uc010bvg.3_Silent_p.L717L NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 885 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCTCCTCGGTCAGCTGCACGC 0.637 T CBFB AML NDRG4 65009 broad.mit.edu 37 16 58538057 58538057 + Splice_Site SNP G G C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr16:58538057G>C uc002enm.3 + 5 625 c.284_splice c.e5-1 p.H95_splice NDRG4_uc002enk.3_Splice_Site_p.H75_splice|NDRG4_uc010vif.2_Splice_Site_p.H75_splice|NDRG4_uc002eno.3_Splice_Site_p.H43_splice|NDRG4_uc010cdk.3_Splice_Site_p.D61_splice|NDRG4_uc010vig.2_Splice_Site_p.H73_splice|NDRG4_uc010vih.2_Splice_Site|NDRG4_uc010vii.2_Splice_Site_p.H61_splice|NDRG4_uc002enp.3_Splice_Site_p.H43_splice|NDRG4_uc002enq.1_5'Flank NM_001130487 NP_075061 Q9ULP0 NDRG4_HUMAN Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA. 43 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 TGTCTTTGCAGACAAACTATG 0.577 CNOT1 23019 broad.mit.edu 37 16 58559906 58559906 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr16:58559906C>T uc002env.3 - 44 6883 c.6590G>A c.(6589-6591)cGc>cAc p.R2197H CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.R2192H|CNOT1_uc002ent.3_Missense_Mutation_p.R135H|CNOT1_uc010vik.2_Missense_Mutation_p.R1154H NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 2197 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol p.R2197H(2) 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) TAGGTTGCTGCGCAGATCAGA 0.413 CDYL2 124359 broad.mit.edu 37 16 80646527 80646527 + Missense_Mutation SNP G G A rs145890469 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr16:80646527G>A uc002ffs.3 - 4 1319 c.1214C>T c.(1213-1215)gCg>gTg p.A405V NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 405 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GCTTACCAGCGCGACGCCCAG 0.622 GNGT2 2793 broad.mit.edu 37 17 47284767 47284767 + Silent SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr17:47284767G>A uc002ioo.2 - 2 325 c.18C>T c.(16-18)agC>agT p.S6S GNGT2_uc021tzo.1_Silent_p.S6S|GNGT2_uc021tzp.1_Silent_p.S6S|GNGT2_uc021tzq.1_Silent_p.S6S|ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank NM_031498 NP_113686 O14610 GBGT2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA. 6 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity p.L5I(1) endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GGTCCTTCTCGCTGAGATCCT 0.537 TNRC6C 57690 broad.mit.edu 37 17 76082938 76082938 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr17:76082938C>T uc002jud.2 + 13 4166 c.3566C>T c.(3565-3567)gCg>gTg p.A1189V TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA. 1189 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding p.A1189V(2)|p.A1189A(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGCCAGGTTGCGCGCACAATC 0.592 TCEB3B 51224 broad.mit.edu 37 18 44561319 44561319 + Missense_Mutation SNP T T C rs146911955 byFrequency TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr18:44561319T>C uc002lcr.1 - 0 670 c.317A>G c.(316-318)cAg>cGg p.Q106R KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 106 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.Q106R(2)|p.D105E(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCCTTTTCCTGGTCCTGAAG 0.652 TCEB3B 51224 broad.mit.edu 37 18 44561321 44561321 + Missense_Mutation SNP G G C rs138936821 byFrequency TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr18:44561321G>C uc002lcr.1 - 0 668 c.315C>G c.(313-315)gaC>gaG p.D105E KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 105 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.D105E(2) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCTTTTCCTGGTCCTGAAGAG 0.662 NFATC1 4772 broad.mit.edu 37 18 77227543 77227543 + Nonsense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr18:77227543C>T uc010xfg.2 + 7 2506 c.2053C>T c.(2053-2055)Cga>Tga p.R685* NFATC1_uc002lnc.1_Nonsense_Mutation_p.R685*|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.3_Nonsense_Mutation_p.R685*|NFATC1_uc002lne.3_Nonsense_Mutation_p.R213*|NFATC1_uc010xfh.2_Nonsense_Mutation_p.R685*|NFATC1_uc010xfi.1_Nonsense_Mutation_p.R672*|NFATC1_uc010xfj.2_Nonsense_Mutation_p.R213*|NFATC1_uc002lnf.3_Nonsense_Mutation_p.R672*|NFATC1_uc002lng.3_Nonsense_Mutation_p.R672*|NFATC1_uc010xfk.2_Nonsense_Mutation_p.R672* NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 685 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GAAGAGAAAGCGAAGCCAGTA 0.522 MUC16 94025 broad.mit.edu 37 19 9087317 9087317 + Missense_Mutation SNP A A G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:9087317A>G uc002mkp.3 - 0 4702 c.4498T>C c.(4498-4500)Tca>Cca p.S1500P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1500 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S1500*(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGACTTTGAAAGTTCATGA 0.428 ZNF653 115950 broad.mit.edu 37 19 11598332 11598332 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:11598332C>T uc002mrz.2 - 3 1083 c.946G>A c.(946-948)Ggc>Agc p.G316S NM_138783 NP_620138 Q96CK0 ZN653_HUMAN Homo sapiens zinc finger protein 653 (ZNF653), mRNA. 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 ACCTGTGAGCCGGGCACCATG 0.672 ZNF829 374899 broad.mit.edu 37 19 37383097 37383097 + Missense_Mutation SNP A A G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:37383097A>G uc021utr.1 - 5 906 c.839T>C c.(838-840)gTt>gCt p.V280A ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Missense_Mutation_p.V199A NM_001171979 NP_001165450 Q3KNS6 ZN829_HUMAN Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA. 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTCGAGTAACGAGTGAGCC 0.373 MARK4 57787 broad.mit.edu 37 19 45781188 45781188 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:45781188G>A uc002pbb.2 + 8 1125 c.794G>A c.(793-795)cGg>cAg p.R265Q MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.R265Q|MARK4_uc002pbc.1_Missense_Mutation_p.R131Q NM_001199867 NP_001186796 Q96L34 MARK4_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA. 265 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGGAGCTGCGGGAGCGAGTA 0.567 SLC8A2 6543 broad.mit.edu 37 19 47960816 47960816 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:47960816C>T uc010ele.3 - 1 727 c.711G>A c.(709-711)ccG>ccA p.P237P SLC8A2_uc002pgx.3_Silent_p.P237P|SLC8A2_uc010xyq.2_5'UTR|SLC8A2_uc010xyr.2_Intron Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 237 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCACGCACACCGGGAAGAAGA 0.672 SLC17A7 57030 broad.mit.edu 37 19 49933892 49933892 + Missense_Mutation SNP C C T rs150211751 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:49933892C>T uc002pnp.3 - 11 1739 c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K SLC17A7_uc002pno.3_Missense_Mutation_p.E185K NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 523 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity p.S522S(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TCCTCCATTTCGCTGTCGTCA 0.662 KLK14 43847 broad.mit.edu 37 19 51582885 51582885 + Missense_Mutation SNP C C T rs61998181 by1000genomes TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:51582885C>T uc021uyk.1 - 4 554 c.335G>A c.(334-336)cGt>cAt p.R112H KLK14_uc002pvs.1_Missense_Mutation_p.R112H NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA. 112 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CGTCACCTGACGAACCACGCG 0.657 SIGLEC8 27181 broad.mit.edu 37 19 51958738 51958738 + Nonsense_Mutation SNP G G A rs141833256 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:51958738G>A uc002pwt.3 - 3 1052 c.985C>T c.(985-987)Cga>Tga p.R329* SIGLEC8_uc010yda.2_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236* NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 329 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.R329Q(1) 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) TTCTGAGCTCGGCAGGTGAAT 0.637 ZNF813 126017 broad.mit.edu 37 19 53994691 53994691 + Missense_Mutation SNP G G A rs140206311 by1000genomes TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:53994691G>A uc021uzf.1 + 0 ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R402H NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN Homo sapiens zinc finger protein 813 (ZNF813), mRNA. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAATGCCATCGTAGACTTCAT 0.408 ZNF274 10782 broad.mit.edu 37 19 58723898 58723898 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr19:58723898C>T uc002qrq.1 + 8 1807 c.1348C>T c.(1348-1350)Cgc>Tgc p.R450C ZNF274_uc002qrr.1_Missense_Mutation_p.R418C|ZNF274_uc002qrs.1_Missense_Mutation_p.R345C|ZNF274_uc010eum.1_Missense_Mutation_p.R210C NM_133502 NP_598009 Q96GC6 ZN274_HUMAN Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA. 451 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) AAAACGATTGCGCAAACGTGA 0.428 EMILIN1 11117 broad.mit.edu 37 2 27306459 27306459 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr2:27306459G>A uc002rii.4 + 3 2519 c.2020G>A c.(2020-2022)Gat>Aat p.D674N EMILIN1_uc002rik.4_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA. 674 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGGGCGCTGATCTGGCTGA 0.562 COL3A1 1281 broad.mit.edu 37 2 189859003 189859003 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr2:189859003G>A uc002uqj.1 + 17 1355 c.1238G>A c.(1237-1239)cGg>cAg p.R413Q COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 413 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) ATGGGAGCCCGGGGTCCTCCA 0.488 ECEL1 9427 broad.mit.edu 37 2 233347307 233347307 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr2:233347307G>A uc002vsv.2 - 10 1902 c.1697C>T c.(1696-1698)cCc>cTc p.P566L ECEL1_uc010fya.1_Missense_Mutation_p.P564L|ECEL1_uc010fyb.1_Missense_Mutation_p.P273L NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 566 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CGCCTGTGGGGGGAGCAGCCA 0.617 DTD1 92675 broad.mit.edu 37 20 18576672 18576672 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr20:18576672C>T uc002wrf.4 + 2 318 c.157C>T c.(157-159)Cgt>Tgt p.R53C NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA. 53 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 TCTAAACCTGCGTGTATTTGA 0.493 XKR7 343702 broad.mit.edu 37 20 30585031 30585031 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr20:30585031G>A uc002wxe.3 + 2 1685 c.1511G>A c.(1510-1512)cGg>cAg p.R504Q NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA. 504 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TTCCAGGTGCGGCCTGGCTTG 0.677 DNMT3B 1789 broad.mit.edu 37 20 31386409 31386409 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr20:31386409G>A uc002wyc.3 + 14 1955 c.1634G>A c.(1633-1635)cGc>cAc p.R545H DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R525H|DNMT3B_uc002wye.3_Missense_Mutation_p.R525H|DNMT3B_uc010ztz.2_Missense_Mutation_p.R483H|DNMT3B_uc010zua.2_Missense_Mutation_p.R449H|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R537H|DNMT3B_uc002wyg.3_Missense_Mutation_p.R244H|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 545 ADD. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGAACGTGCGCCTGCAGGCC 0.627 SRSF6 6431 broad.mit.edu 37 20 42089538 42089538 + Missense_Mutation SNP G G C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr20:42089538G>C uc010zwg.2 + 5 1040 c.870G>C c.(868-870)aaG>aaC p.K290N SRSF6_uc002xki.3_Missense_Mutation_p.K161N NM_006275 NP_006266 Q13247 SRSF6_HUMAN Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA. 290 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 GTGATATAAAGTCAAAATCCA 0.488 NPBWR2 2832 broad.mit.edu 37 20 62737203 62737203 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr20:62737203G>A uc011abt.2 - 0 982 c.982C>T c.(982-984)Cgc>Tgc p.R328C NM_005286 NP_005277 P48146 NPBW2_HUMAN Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA. 328 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AATATGCTGCGGAAGTTCTTC 0.552 FBLN2 2199 broad.mit.edu 37 3 13679191 13679191 + Silent SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:13679191G>A uc011avc.2 + 17 3850 c.3468G>A c.(3466-3468)gcG>gcA p.A1156A FBLN2_uc011auz.2_Silent_p.A1135A|FBLN2_uc011avb.2_Silent_p.A1109A|FBLN2_uc011ava.2_Silent_p.A1156A NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 1109 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) TTGGCCCCGCGCCAGCCTTCA 0.622 CTNNB1 1499 broad.mit.edu 37 3 41275669 41275669 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:41275669G>A uc010hia.1 + 10 1720 c.1564G>A c.(1564-1566)Gca>Aca p.A522T CTNNB1_uc003ckq.2_Missense_Mutation_p.A522T|CTNNB1_uc003ckp.2_Missense_Mutation_p.A522T|CTNNB1_uc003ckr.2_Missense_Mutation_p.A522T|CTNNB1_uc011azf.1_Missense_Mutation_p.A515T|CTNNB1_uc011azg.1_Missense_Mutation_p.A450T|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 522 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CCTTTGTCCCGCAAATCATGC 0.468 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of TGM4 7047 broad.mit.edu 37 3 44929232 44929232 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:44929232C>T uc003coc.4 + 2 318 c.245C>T c.(244-246)aCg>aTg p.T82M TGM4_uc003coa.2_Missense_Mutation_p.T82M|TGM4_uc003cob.2_Intron NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 82 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T82M(2) 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) GACCCGAGGACGCCCTCAGAC 0.617 CACNA1D 776 broad.mit.edu 37 3 53756373 53756373 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:53756373G>A uc003dgv.4 + 11 1701 c.1538G>A c.(1537-1539)cGc>cAc p.R513H CACNA1D_uc003dgu.4_Missense_Mutation_p.R533H|CACNA1D_uc003dgy.4_Missense_Mutation_p.R513H|CACNA1D_uc003dgw.4_Missense_Mutation_p.R180H NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 513 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CGATTCAATCGCAGAAGATGT 0.453 PRR23B 389151 broad.mit.edu 37 3 138739098 138739098 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:138739098C>T uc003esy.1 - 0 671 c.406G>A c.(406-408)Gtc>Atc p.V136I NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 136 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCTCGACGACGACGTCCTCC 0.657 P2RY13 53829 broad.mit.edu 37 3 151045981 151045981 + Missense_Mutation SNP T T C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:151045981T>C uc003eyv.2 - 1 884 c.863A>G c.(862-864)gAc>gGc p.D288G MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA. 288 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) CAGTCTACAGTCAGTCTTATT 0.358 SSR3 6747 broad.mit.edu 37 3 156271443 156271444 + Splice_Site INS - - TTGTGCTTG TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:156271443_156271444insTTGTGCTTG uc011bop.2 - 2 355 c.260_splice c.e2+1 p.K87_splice SSR3_uc003fau.3_Splice_Site_p.K87_splice NM_007107 NP_009038 Q9UNL2 SSRG_HUMAN Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA. 87 cotranslational protein targeting to membrane integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex protein binding|signal sequence binding endometrium(1)|prostate(2) 3 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AACATACTTACTTGTGCTTGAG 0.312 MFI2 4241 broad.mit.edu 37 3 196736682 196736682 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr3:196736682C>T uc003fxk.4 - 11 1445 c.1331_splice c.e11-1 p.P444_splice NM_005929 NP_005920 P08582 TRFM_HUMAN Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA. 444 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) TGCTGTCTTCCGCTGGGGAGA 0.632 KDR 3791 broad.mit.edu 37 4 55968556 55968556 + Frame_Shift_Del DEL C C - TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr4:55968556delC uc003has.3 - 13 2409 c.2107delG c.(2107-2109)gatfs p.D703fs KDR_uc003hat.1_Frame_Shift_Del_p.D703fs NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 703 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTCTCATTATCTTTAAACCAC 0.433 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) SMARCA5 8467 broad.mit.edu 37 4 144474296 144474296 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr4:144474296G>A uc003ijg.3 + 23 3580 c.3118G>A c.(3118-3120)Gca>Aca p.A1040T NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 1040 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AATGGATGGCGCACCTGATGG 0.333 GLRA3 8001 broad.mit.edu 37 4 175649758 175649758 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr4:175649758G>A uc003ity.1 - 3 862 c.359C>T c.(358-360)cCc>cTc p.P120L GLRA3_uc003itz.1_Missense_Mutation_p.P120L NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 120 synaptic transmission 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 endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CAACATGGAGGGGTCGAGGTC 0.418 PLEKHG4B 153478 broad.mit.edu 37 5 161944 161944 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr5:161944G>A uc003jak.2 + 9 1516 c.1466G>A c.(1465-1467)cGt>cAt p.R489H NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 489 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.R489H(1) 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) AACCCGCAACGTACAGAGGAA 0.592 UGT3A2 167127 broad.mit.edu 37 5 36035828 36035828 + Missense_Mutation SNP C C T rs138640717 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr5:36035828C>T uc003jjz.2 - 6 1676 c.1544G>A c.(1543-1545)cGt>cAt p.R515H UGT3A2_uc011cos.2_Missense_Mutation_p.R481H|UGT3A2_uc011cot.2_Missense_Mutation_p.R213H NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 515 R -> H (in a colorectal cancer sample; somatic mutation). integral to membrane glucuronosyltransferase activity p.R515H(4) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTGGCCCCACGCAGCCACCA 0.577 KCTD16 57528 broad.mit.edu 37 5 143853420 143853420 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr5:143853420C>T uc003lnm.1 + 3 1659 c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C KCTD16_uc003lnn.1_Missense_Mutation_p.R344C NM_020768 NP_065819 Q68DU8 KCD16_HUMAN Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA. 344 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.R344H(1) 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) GACTCTGGACCGTCCCATCAA 0.587 HIST1H2BL 8340 broad.mit.edu 37 6 27775524 27775524 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr6:27775524C>T uc003njl.3 - 0 186 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H3H_uc003njm.3_5'Flank NM_003519 NP_003510 Q99880 H2B1L_HUMAN Homo sapiens histone cluster 1, H2bl (HIST1H2BL), mRNA. 54 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 AGAAGAGATGCCGGTGTCGGG 0.582 HLA-L 3139 broad.mit.edu 37 6 30228382 30228382 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr6:30228382C>T uc003npv.2 + 2 503 c.53C>T c.(52-54)gCg>gTg p.A18V Homo sapiens major histocompatibility complex, class I, L (pseudogene) (HLA-L), non-coding RNA. CTGCAGCACGCGGGTACCAGG 0.602 DST 667 broad.mit.edu 37 6 56457035 56457035 + Missense_Mutation SNP G G C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr6:56457035G>C uc003pcy.4 - 29 5087 c.4979C>G c.(4978-4980)tCt>tGt p.S1660C DST_uc010kaa.1_Non-coding_Transcript NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 4072 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.L1659M(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AATAGGTTCAGATAAGTGTTT 0.433 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr7:55233043G>T uc003tqk.3 + 14 2039 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(31)|p.A597T(1)|p.A597P(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) FZD9 8326 broad.mit.edu 37 7 72849409 72849409 + Missense_Mutation SNP T T A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr7:72849409T>A uc003tyb.3 + 0 1301 c.1072T>A c.(1072-1074)Ttc>Atc p.F358I NM_003508 NP_003499 O00144 FZD9_HUMAN Homo sapiens frizzled family receptor 9 (FZD9), mRNA. 358 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) CGGCAGCTATTTCCACATGGC 0.652 SRPK2 6733 broad.mit.edu 37 7 104782492 104782492 + Silent SNP T T C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr7:104782492T>C uc003vct.3 - 9 1660 c.1473A>G c.(1471-1473)agA>agG p.R491R SRPK2_uc003vcu.3_Silent_p.R491R|SRPK2_uc003vcv.3_Silent_p.R502R|SRPK2_uc003vcw.1_Silent_p.R491R NM_182691 NP_872633 P78362 SRPK2_HUMAN Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA. 491 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R491R(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CTGAAACCGTTCTGCTTCTGT 0.512 SSU72P8 136157 broad.mit.edu 37 7 124116511 124116511 + Silent SNP A A G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr7:124116511A>G EU233817 (81339 upstream) : GPR37 (269603 downstream) TCAGGAGAAAAGGGCTAAGTG 0.517 ATP6V0A4 50617 broad.mit.edu 37 7 138441286 138441286 + Splice_Site SNP C C G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr7:138441286C>G uc003vuf.3 - 8 878 c.640_splice c.e8-1 p.K214_splice ATP6V0A4_uc003vug.3_Splice_Site_p.K214_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.K214_splice NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 214 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TTTCTTCTTTCTGGAAAATCA 0.353 MKRN1 23608 broad.mit.edu 37 7 140156627 140156627 + Missense_Mutation SNP A A T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr7:140156627A>T uc003vvt.2 - 4 1036 c.811T>A c.(811-813)Ttt>Att p.F271I MKRN1_uc003vvs.2_Missense_Mutation_p.F207I|MKRN1_uc011krd.1_Missense_Mutation_p.F5I|MKRN1_uc003vvv.4_Missense_Mutation_p.F271I|MKRN1_uc003vvu.4_Missense_Mutation_p.F207I NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA. 271 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) TGCACGGCAAATGAGAGCTCC 0.532 C8orf58 541565 broad.mit.edu 37 8 22458597 22458597 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr8:22458597C>T uc003xce.3 + 1 363 c.243C>T c.(241-243)gcC>gcT p.A81A C8orf58_uc011kzl.2_Silent_p.A81A|C8orf58_uc003xcf.3_Silent_p.A81A NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA. 81 endometrium(1)|lung(1)|ovary(1)|skin(1) 4 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GCCCCCTGGCCGCCTTACCGG 0.632 DOCK5 80005 broad.mit.edu 37 8 25156484 25156484 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr8:25156484C>T uc003xeg.3 + 7 768 c.631C>T c.(631-633)Cgg>Tgg p.R211W DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.3_Missense_Mutation_p.R211W NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 211 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CCTCGATTTGCGGGGCCAGTC 0.418 PPP1R16A 84988 broad.mit.edu 37 8 145726654 145726654 + Missense_Mutation SNP G G C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr8:145726654G>C uc003zdd.3 + 9 2093 c.1180G>C c.(1180-1182)Gag>Cag p.E394Q AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.E394Q|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.4_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA. 394 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GACAGGCGCAGAGCTCAGGCC 0.736 PTCH1 5727 broad.mit.edu 37 9 98209358 98209358 + Nonsense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chr9:98209358G>A uc004avk.4 - 22 4368 c.4180C>T c.(4180-4182)Cga>Tga p.R1394* PTCH1_uc010mrn.3_Nonsense_Mutation_p.R186*|PTCH1_uc010mro.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrp.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrq.3_Nonsense_Mutation_p.R1243*|PTCH1_uc004avl.4_Nonsense_Mutation_p.R1243*|PTCH1_uc004avm.4_Nonsense_Mutation_p.R1393*|PTCH1_uc010mrr.3_Nonsense_Mutation_p.R1328* NM_000264 NP_001077076 Q13635 PTC1_HUMAN Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA. 1394 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.R1394*(2) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AGTCCCCCTCGGGGGTTCCGC 0.677 ARSD 414 broad.mit.edu 37 X 2826829 2826829 + Silent SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:2826829C>T uc004cqy.3 - 8 1453 c.1353G>A c.(1351-1353)tcG>tcA p.S451S NM_001669 NP_001660 P51689 ARSD_HUMAN Homo sapiens arylsulfatase D (ARSD), mRNA. 451 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) ACTCATGTGCCGAGCGTGCCT 0.572 MAGEB6 158809 broad.mit.edu 37 X 26212934 26212934 + Missense_Mutation SNP T T A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:26212934T>A uc022buc.1 + 0 971 c.971T>A c.(970-972)aTc>aAc p.I324N MAGEB6_uc004dbr.3_Missense_Mutation_p.I324N NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 324 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CTGCATTCAATCTATGGGGAT 0.488 FAM47A 158724 broad.mit.edu 37 X 34150200 34150200 + Missense_Mutation SNP C C T TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:34150200C>T uc004ddg.3 - 0 248 c.196G>A c.(196-198)Gaa>Aaa p.E66K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 66 p.E66K(2)|p.P65P(1) 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 AGAGTATCTTCGGGAGACGGA 0.552 GPKOW 27238 broad.mit.edu 37 X 48976107 48976107 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:48976107G>A uc004dmr.3 - 3 524 c.517C>T c.(517-519)Cgg>Tgg p.R173W NM_015698 NP_056513 Q92917 GPKOW_HUMAN Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA. 173 G-patch. nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 CCCATGCCCCGCAGCATGGCC 0.597 TRO 7216 broad.mit.edu 37 X 54949888 54949888 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:54949888G>A uc004dtq.3 + 2 1030 c.923G>A c.(922-924)aGg>aAg p.R308K TRO_uc011moj.1_Missense_Mutation_p.R251K|TRO_uc004dts.3_Missense_Mutation_p.R308K|TRO_uc004dtr.3_Missense_Mutation_p.R308K|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Intron|TRO_uc004dtw.3_Intron|TRO_uc004dtx.3_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 308 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCTGCCAGCAGGGGCCCAAAT 0.552 KLHL4 56062 broad.mit.edu 37 X 86773199 86773199 + Silent SNP A A G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:86773199A>G uc004efa.2 + 0 485 c.303A>G c.(301-303)caA>caG p.Q101Q KLHL4_uc004efb.2_Silent_p.Q101Q NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 101 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TACATTTTCAAGCAAATGAAG 0.438 ESX1 80712 broad.mit.edu 37 X 103499199 103499199 + Missense_Mutation SNP G G A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:103499199G>A uc004ely.3 - 1 211 c.142C>T c.(142-144)Cgg>Tgg p.R48W NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 48 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GGTTTGGACCGTGTATTCTCC 0.587 MUM1L1 139221 broad.mit.edu 37 X 105451028 105451028 + Missense_Mutation SNP A A C TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:105451028A>C uc022cca.1 + 0 1603 c.1603A>C c.(1603-1605)Atg>Ctg p.M535L MUM1L1_uc004emg.2_Missense_Mutation_p.M535L|MUM1L1_uc004emf.2_Missense_Mutation_p.M535L NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 535 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GACCAAGAAAATGTCCTTCCA 0.453 KIAA1210 57481 broad.mit.edu 37 X 118219419 118219419 + Missense_Mutation SNP T T A TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:118219419T>A uc004era.4 - 11 4775 c.4775A>T c.(4774-4776)cAc>cTc p.H1592L NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 1592 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CACAGAAATGTGGGCCTTGAA 0.463 BRS3 680 broad.mit.edu 37 X 135570275 135570275 + Missense_Mutation SNP T T G TCGA-06-0125-02A-11D-2280-08 TCGA-06-0125-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96e3db14-2bb1-4f68-aed6-5e794750c96e eae82a82-aa9f-4fea-b1da-e973e1982dc6 g.chrX:135570275T>G uc004ezv.1 + 0 151 c.2T>G c.(1-3)aTg>aGg p.M1R NM_001727 NP_001718 P32247 BRS3_HUMAN Homo sapiens bombesin-like receptor 3 (BRS3), mRNA. 1 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity p.M1I(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TCAGAAGAAATGGCTCAAAGG 0.378