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 UBIAD1 29914 broad.mit.edu 37 1 11345936 11345936 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:11345936G>A uc001asg.2 + 2 1099 c.765G>A c.(763-765)ACG>ACA p.T255T NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 255 Helical; (Potential). menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) TCGGCCCCACGTTCTCCTACA 0.592 VPS13D 55187 broad.mit.edu 37 1 12337907 12337907 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:12337907G>A uc001atv.2 + 19 4403 c.4262G>A c.(4261-4263)CGT>CAT p.R1421H VPS13D_uc001atw.2_Missense_Mutation_p.R1421H|VPS13D_uc001atx.2_Missense_Mutation_p.R609H NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1421 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGAAGTGACCGTCTGCAGGTG 0.493 DHRS3 9249 broad.mit.edu 37 1 12677213 12677213 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:12677213C>T uc001auc.2 - 1 608 c.141G>A c.(139-141)GGG>GGA p.G47G DHRS3_uc001aub.2_5'Flank|DHRS3_uc009vnm.2_Silent_p.G47G|DHRS3_uc001aud.3_Silent_p.G47G NM_004753 NP_004744 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 47 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding skin(1) 1 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CGATGCCTCTCCCGCCGCCGG 0.692 PRDM2 7799 broad.mit.edu 37 1 14108601 14108601 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:14108601C>T uc001avi.2 + 8 5167 c.4311C>T c.(4309-4311)AAC>AAT p.N1437N PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.N1437N|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.N1236N|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1437 Arg/Lys-rich (basic). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTCAGAAAAACAAATCTGCAA 0.383 CROCC 9696 broad.mit.edu 37 1 17264229 17264229 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:17264229C>T uc001azt.2 + 10 1356 c.1287C>T c.(1285-1287)GCC>GCT p.A429A CROCC_uc009voy.1_Silent_p.A132A|CROCC_uc009voz.1_Silent_p.A192A|CROCC_uc001azu.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 429 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGCTTGAGGCCCTGGTGAGCT 0.612 ATP13A2 23400 broad.mit.edu 37 1 17331968 17331968 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:17331968C>T uc001baa.2 - 3 379 c.189G>A c.(187-189)CTG>CTA p.L63L ATP13A2_uc001bab.2_Silent_p.L63L|ATP13A2_uc001bac.2_Silent_p.L63L NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 63 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AACGGAAGAGCAGCAAAGGGA 0.612 LUZP1 7798 broad.mit.edu 37 1 23415425 23415425 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:23415425C>T uc001bgk.2 - 5 3578 c.3194G>A c.(3193-3195)CGA>CAA p.R1065Q LUZP1_uc010odv.1_Missense_Mutation_p.R1065Q NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 1065 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TGGCCGTAATCGTTCCTCGGC 0.617 RPS6KA1 6195 broad.mit.edu 37 1 26888072 26888072 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:26888072G>A uc001bmr.1 + 17 1671 c.1508G>A c.(1507-1509)CGG>CAG p.R503Q RPS6KA1_uc010ofe.1_Missense_Mutation_p.R411Q|RPS6KA1_uc010off.1_Missense_Mutation_p.R487Q|RPS6KA1_uc001bms.1_Missense_Mutation_p.R512Q|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R346Q NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 503 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AAGATCCTGCGGCAGAAGTTC 0.572 BMP8B 656 broad.mit.edu 37 1 40253912 40253912 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:40253912G>A uc001cdz.1 - 1 622 c.246C>T c.(244-246)CAC>CAT p.H82H BMP8B_uc001cea.1_Silent_p.H82H NM_001720 NP_001711 P34820 BMP8B_HUMAN bone morphogenetic protein 8B preproprotein 82 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity 0 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CGGCCATGGCGTGGTACAGGT 0.338 MUTYH 4595 broad.mit.edu 37 1 45799143 45799143 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:45799143C>T uc001cnm.2 - 3 497 c.281G>A c.(280-282)CGA>CAA p.R94Q MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.R69Q|MUTYH_uc009vxo.2_Missense_Mutation_p.R69Q|MUTYH_uc001cng.2_Missense_Mutation_p.R80Q|MUTYH_uc001cnj.2_5'UTR|MUTYH_uc001cni.2_Missense_Mutation_p.R69Q|MUTYH_uc001cnh.2_Missense_Mutation_p.R70Q|MUTYH_uc001cno.2_5'UTR|MUTYH_uc001cnk.2_5'UTR|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R83Q|MUTYH_uc009vxp.2_Missense_Mutation_p.R97Q|MUTYH_uc001cnn.2_Missense_Mutation_p.R84Q NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 94 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) CAGGCTCCCTCGGAAGGCTGT 0.607 Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis FNDC7 163479 broad.mit.edu 37 1 109265047 109265047 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:109265047A>T uc001dvx.2 + 5 689 c.689A>T c.(688-690)AAT>ATT p.N230I FNDC7_uc010ova.1_5'UTR NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 231 Fibronectin type-III 3. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GGAGCTTTCAATTATACTGTG 0.488 HRNR 388697 broad.mit.edu 37 1 152188248 152188248 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:152188248G>A uc001ezt.1 - 3 5933 c.5857C>T c.(5857-5859)CGA>TGA p.R1953* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1953 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCATGTCGGCCACGGCTA 0.612 SPRR1B 6699 broad.mit.edu 37 1 153005026 153005026 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:153005026G>T uc001fba.2 + 2 269 c.205G>T c.(205-207)GTG>TTG p.V69L SPRR1B_uc009wnx.1_RNA NM_003125 NP_003116 P22528 SPR1B_HUMAN small proline-rich protein 1B 69 5.|6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCACCCCAAGGTGCCTGAGCC 0.627 SPTA1 6708 broad.mit.edu 37 1 158627279 158627279 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:158627279T>G uc001fst.1 - 19 2992 c.2793A>C c.(2791-2793)GAA>GAC p.E931D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 931 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGCTGCTTCTTCATCAGCAC 0.448 DCAF6 55827 broad.mit.edu 37 1 167944108 167944108 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:167944108T>C uc001gew.2 + 4 535 c.293T>C c.(292-294)TTT>TCT p.F98S DCAF6_uc001gev.2_Missense_Mutation_p.F98S|DCAF6_uc001gex.2_Missense_Mutation_p.F98S|DCAF6_uc010plk.1_Missense_Mutation_p.F67S|DCAF6_uc001gey.2_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 98 WD 2. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GCAAACATATTTAGTGCAAAG 0.343 RGS18 64407 broad.mit.edu 37 1 192153619 192153619 + Nonsense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:192153619C>T uc001gsg.2 + 5 819 c.643C>T c.(643-645)CGA>TGA p.R215* NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 215 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 TCTTAGGAGACGATCACGCTC 0.358 KCNT2 343450 broad.mit.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:196250003A>T uc001gtd.1 - 25 2957 c.2897T>A c.(2896-2898)CTT>CAT p.L966H KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L892H|KCNT2_uc001gtf.1_Missense_Mutation_p.L942H|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L942H|KCNT2_uc001gth.1_Missense_Mutation_p.L463H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 966 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AGATGTAGTAAGTTTCTGAGA 0.328 CFH 3075 broad.mit.edu 37 1 196684775 196684775 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:196684775A>G uc001gtj.3 + 11 1812 c.1572A>G c.(1570-1572)ACA>ACG p.T524T NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 524 Sushi 9. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 atgacttcacatggtttaagc 0.254 CFHR5 81494 broad.mit.edu 37 1 196971772 196971772 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:196971772G>A uc001gts.3 + 8 1436 c.1308G>A c.(1306-1308)TGG>TGA p.W436* NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 436 Sushi 7. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ATGGACGATGGCAATCATTAC 0.333 C1orf107 27042 broad.mit.edu 37 1 210012275 210012275 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:210012275C>T uc001hhr.1 + 7 1160 c.1084C>T c.(1084-1086)CGG>TGG p.R362W C1orf107_uc009xcu.1_Missense_Mutation_p.R77W NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 362 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GGTGCCATTCCGGGAAGCTGC 0.512 USH2A 7399 broad.mit.edu 37 1 216462716 216462716 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:216462716C>T uc001hku.1 - 11 2264 c.1877G>A c.(1876-1878)CGA>CAA p.R626Q USH2A_uc001hkv.2_Missense_Mutation_p.R626Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 626 Laminin EGF-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCAACTTGTCGGAAAAAGTA 0.413 HNSCC(13;0.011) NUP133 55746 broad.mit.edu 37 1 229619858 229619858 + Missense_Mutation SNP G G A rs144974683 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:229619858G>A uc001htn.2 - 12 1627 c.1535C>T c.(1534-1536)ACT>ATT p.T512I NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 512 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTGGGCTATAGTTTCATTCTT 0.313 KIAA1217 56243 broad.mit.edu 37 10 24820922 24820922 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr10:24820922G>T uc001iru.3 + 15 3649 c.3246G>T c.(3244-3246)AAG>AAT p.K1082N KIAA1217_uc001irs.2_Missense_Mutation_p.K1002N|KIAA1217_uc001irt.3_Missense_Mutation_p.K1047N|KIAA1217_uc010qcy.1_Missense_Mutation_p.K1046N|KIAA1217_uc010qcz.1_Missense_Mutation_p.K1047N|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.K765N|KIAA1217_uc001irz.2_Missense_Mutation_p.K765N|KIAA1217_uc001irx.2_Missense_Mutation_p.K765N|KIAA1217_uc001iry.2_Missense_Mutation_p.K765N NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1082 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TCACCGCTAAGGTCTGATAGG 0.532 TMEM72 643236 broad.mit.edu 37 10 45430339 45430339 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr10:45430339G>T uc001jbn.2 + 5 782 c.585G>T c.(583-585)AAG>AAT p.K195N uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.K77N NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 195 integral to membrane 0 GGACTAAGAAGCCCAGTGCCC 0.582 HPSE2 60495 broad.mit.edu 37 10 100481490 100481490 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr10:100481490G>A uc001kpn.1 - 5 940 c.880C>T c.(880-882)CGG>TGG p.R294W HPSE2_uc009xwc.1_Missense_Mutation_p.R284W|HPSE2_uc001kpo.1_Missense_Mutation_p.R226W|HPSE2_uc009xwd.1_Missense_Mutation_p.R172W NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 294 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GAATAAATCCGGATGGGCTGC 0.498 PKD2L1 9033 broad.mit.edu 37 10 102051174 102051174 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr10:102051174C>T uc001kqx.1 - 12 2274 c.1891G>A c.(1891-1893)GCA>ACA p.A631T PKD2L1_uc009xwm.1_Missense_Mutation_p.A584T NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 631 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCATGCTCTGCGTGTCCCAGT 0.483 PDCD11 22984 broad.mit.edu 37 10 105200216 105200216 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr10:105200216G>A uc001kwy.1 + 29 4405 c.4318G>A c.(4318-4320)GAG>AAG p.E1440K NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1440 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) gaaaaggaacgagaagaagaa 0.284 ZDHHC6 64429 broad.mit.edu 37 10 114194103 114194103 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr10:114194103A>T uc001kzv.2 - 7 1279 c.855T>A c.(853-855)GAT>GAA p.D285E ZDHHC6_uc001kzw.2_Missense_Mutation_p.D281E|ZDHHC6_uc009xya.1_Missense_Mutation_p.D285E NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 285 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) ACTCAAGTCCATCTCCTTCAG 0.418 PARVA 55742 broad.mit.edu 37 11 12525930 12525930 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:12525930C>G uc001mki.2 + 6 660 c.611C>G c.(610-612)CCA>CGA p.P204R PARVA_uc010rck.1_Missense_Mutation_p.P151R NM_018222 NP_060692 Q9NVD7 PARVA_HUMAN parvin, alpha 204 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3) 3 Epithelial(150;0.00624) TTCCGCGCACCAATTCGACTC 0.468 PAX6 5080 broad.mit.edu 37 11 31824271 31824271 + Missense_Mutation SNP T T A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:31824271T>A uc001mtd.3 - 4 1012 c.122A>T c.(121-123)GAC>GTC p.D41V PAX6_uc001mte.3_Missense_Mutation_p.D41V|PAX6_uc001mtg.3_Missense_Mutation_p.D41V|PAX6_uc001mtf.3_Missense_Mutation_p.D41V|PAX6_uc001mth.3_Missense_Mutation_p.D41V|PAX6_uc009yjr.2_Missense_Mutation_p.D41V NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 41 Paired. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) TCGGGAAATGTCGCACGGCCG 0.632 Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation OR4D6 219983 broad.mit.edu 37 11 59224503 59224503 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:59224503G>C uc010rku.1 + 1 70 c.70G>C c.(70-72)GAG>CAG p.E24Q NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCGAGAGCTGGAGTTTTTCTT 0.473 NRXN2 9379 broad.mit.edu 37 11 64416246 64416246 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:64416246G>A uc001oar.2 - 17 3682 c.3243C>T c.(3241-3243)GAC>GAT p.D1081D NRXN2_uc001oas.2_Silent_p.D1041D|NRXN2_uc001oaq.2_Silent_p.D748D NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane p.D1081N(1) upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GGTGCAGGGCGTCGGCGATGA 0.647 SLC25A45 283130 broad.mit.edu 37 11 65144451 65144451 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:65144451C>T uc001odp.1 - 5 858 c.436G>A c.(436-438)GGG>AGG p.G146R SLC25A45_uc009yqi.1_Missense_Mutation_p.G84R|SLC25A45_uc001odq.1_Missense_Mutation_p.G122R|SLC25A45_uc001odr.1_Missense_Mutation_p.G146R|SLC25A45_uc001ods.1_Missense_Mutation_p.G104R|SLC25A45_uc001odt.1_Missense_Mutation_p.G104R NM_001077241 NP_001070709 Q8N413 S2545_HUMAN solute carrier family 25, member 45 isoform b 146 Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 TGCACGGGCCCCTGGTACCGG 0.677 RBM14 10432 broad.mit.edu 37 11 66392900 66392900 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:66392900C>G uc001oit.2 + 2 1692 c.1553C>G c.(1552-1554)ACT>AGT p.T518S RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 518 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CCTTACCGCACTCAGTCATCA 0.652 PHOX2A 401 broad.mit.edu 37 11 71954983 71954983 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:71954983G>A uc001osh.3 - 1 238 c.66C>T c.(64-66)GGC>GGT p.G22G NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 22 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGCCAAAGTCGCCGTAGGCGG 0.617 ATM 472 broad.mit.edu 37 11 108199886 108199886 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:108199886T>C uc001pkb.1 + 49 7613 c.7228T>C c.(7228-7230)TTT>CTT p.F2410L ATM_uc009yxr.1_Missense_Mutation_p.F2410L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.F1062L|ATM_uc001pkg.1_Missense_Mutation_p.F767L NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2410 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATCATCGGAATTTGAAAACAA 0.373 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) POU2F3 25833 broad.mit.edu 37 11 120180168 120180168 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:120180168T>C uc001pxc.2 + 10 1043 c.941T>C c.(940-942)ATT>ACT p.I314T POU2F3_uc010rzk.1_Missense_Mutation_p.I268T|POU2F3_uc010rzl.1_Missense_Mutation_p.I244T|POU2F3_uc001pxe.1_Missense_Mutation_p.I99T NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 314 Homeobox. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) ATCTCCATGATTGCAGAGCAG 0.557 CHD4 1108 broad.mit.edu 37 12 6687229 6687229 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:6687229G>A uc001qpo.2 - 36 5358 c.5194C>T c.(5194-5196)CGG>TGG p.R1732W CHD4_uc001qpn.2_Missense_Mutation_p.R1725W|CHD4_uc001qpp.2_Missense_Mutation_p.R1757W|uc001qpq.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1732 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TAGTCATGCCGTCGATGCCAG 0.478 PRB1 5542 broad.mit.edu 37 12 11506719 11506719 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:11506719G>C uc001qzw.1 - 3 355 c.318C>G c.(316-318)AAC>AAG p.N106K PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 167 6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTGGGGCTGGTTACCTCCTT 0.612 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:25398285C>T uc001rgp.1 - 2 215 c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) KRT7 3855 broad.mit.edu 37 12 52627391 52627391 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:52627391C>G uc001saa.1 + 1 438 c.311C>G c.(310-312)TCC>TGC p.S104C KRT7_uc009zmf.1_Missense_Mutation_p.S104C NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 104 Rod.|Coil 1A. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) AAGTTTGCCTCCTTCATCGAC 0.682 ARHGAP9 64333 broad.mit.edu 37 12 57870956 57870956 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:57870956C>T uc001sod.2 - 8 1259 c.1066G>A c.(1066-1068)GAA>AAA p.E356K ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.E101K|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.E285K|ARHGAP9_uc001soc.2_Missense_Mutation_p.E285K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E364K|ARHGAP9_uc010sro.1_Missense_Mutation_p.E285K NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 285 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) TCAAGCGGTTCTGGGGTCCCT 0.517 XPOT 11260 broad.mit.edu 37 12 64816815 64816815 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:64816815A>G uc001ssb.2 + 10 1537 c.1111A>G c.(1111-1113)AAT>GAT p.N371D NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 371 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GCAAAAAGCTAATGTAGAGGT 0.294 TPH2 121278 broad.mit.edu 37 12 72372834 72372834 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:72372834G>A uc009zrw.1 + 7 1049 c.908G>A c.(907-909)CGG>CAG p.R303Q TPH2_uc001swy.2_Missense_Mutation_p.R213Q NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 303 R -> W (in ADHD7; has severely reduced solubility and is completely inactive; loss of function may lead to a reduced serotonin synthesis which in turn makes the mutation carriers susceptible to ADHD and possibly other psychiatric disorders). aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) CAGTACATCCGGCATGGCTCA 0.542 PPFIA2 8499 broad.mit.edu 37 12 81768413 81768413 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr12:81768413C>T uc001szo.1 - 11 1427 c.1266G>A c.(1264-1266)AAG>AAA p.K422K PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 348 ovary(3)|lung(2)|pancreas(1) 6 AGTGCAGTACCTTGGTTAGGG 0.398 RNF17 56163 broad.mit.edu 37 13 25440297 25440297 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr13:25440297C>T uc001upr.2 + 30 4158 c.4117C>T c.(4117-4119)CAT>TAT p.H1373Y RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H1369Y|RNF17_uc001ups.2_Missense_Mutation_p.H1312Y|RNF17_uc010aac.2_Missense_Mutation_p.H565Y|RNF17_uc010aad.2_Missense_Mutation_p.H383Y NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1373 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAGATCAGATCATGATAAAAA 0.313 ATP8A2 51761 broad.mit.edu 37 13 26343356 26343356 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr13:26343356G>A uc001uqk.2 + 26 2699 c.2557G>A c.(2557-2559)GCC>ACC p.A853T ATP8A2_uc010tdi.1_Missense_Mutation_p.A813T|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A403T NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 813 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CTCGGATTACGCCATCGCACA 0.587 WASF3 10810 broad.mit.edu 37 13 27216523 27216523 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr13:27216523G>T uc001uqv.2 + 3 341 c.116G>T c.(115-117)CGC>CTC p.R39L WASF3_uc001uqw.2_Missense_Mutation_p.R39L NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 39 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GCTATCATACGCCAGCTGAGC 0.423 LCP1 3936 broad.mit.edu 37 13 46718575 46718575 + Splice_Site SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr13:46718575A>T uc001vaz.3 - 11 1379 c.1253_splice c.e11+1 p.S418_splice LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Intron|LCP1_uc001vba.3_Splice_Site_p.S418_splice NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) AAATATTCCTACCTGTACAAA 0.418 T BCL6 NHL PCDH8 5100 broad.mit.edu 37 13 53421450 53421450 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr13:53421450G>A uc001vhi.2 - 1 1325 c.1122C>T c.(1120-1122)GCC>GCT p.A374A PCDH8_uc001vhj.2_Silent_p.A374A NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 374 Extracellular (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGCGGCGGCGGCGGCAGCGG 0.761 CDH24 64403 broad.mit.edu 37 14 23518308 23518308 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr14:23518308C>T uc001wil.2 - 12 2148 c.1888G>A c.(1888-1890)GCT>ACT p.A630T CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.A592T NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 630 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GAGAGGTGAGCCTCAGGCCAG 0.647 NPAS3 64067 broad.mit.edu 37 14 34270262 34270262 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr14:34270262G>A uc001wru.2 + 12 2813 c.2749G>A c.(2749-2751)GTC>ATC p.V917I NPAS3_uc001wrs.2_Missense_Mutation_p.V904I|NPAS3_uc001wrt.2_Missense_Mutation_p.V885I|NPAS3_uc001wrv.2_Missense_Mutation_p.V887I NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 917 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GCCCTTCCCCGTCTACAGCAA 0.697 EML5 161436 broad.mit.edu 37 14 89130844 89130844 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr14:89130844A>G uc001xxg.2 - 24 3588 c.3402T>C c.(3400-3402)GAT>GAC p.D1134D EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Silent_p.D273D NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1134 cytoplasm|microtubule ovary(3) 3 TACCTCTAATATCCCAATCAA 0.308 SMEK1 55671 broad.mit.edu 37 14 91937312 91937312 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr14:91937312G>A uc001xzn.2 - 10 2351 c.1529C>T c.(1528-1530)GCA>GTA p.A510V SMEK1_uc001xzm.2_Missense_Mutation_p.A497V|SMEK1_uc001xzo.2_Missense_Mutation_p.A497V|SMEK1_uc010atz.2_Missense_Mutation_p.A271V|SMEK1_uc001xzp.1_RNA NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 510 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) CAATACAAGTGCCAATAGTTG 0.318 KIAA1409 57578 broad.mit.edu 37 14 94063796 94063796 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr14:94063796C>T uc001ybv.1 + 21 2834 c.2751C>T c.(2749-2751)TGC>TGT p.C917C KIAA1409_uc001ybs.1_Silent_p.C917C NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1094 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATGCCTTCTGCTGCTTCCTGA 0.493 RYR3 6263 broad.mit.edu 37 15 33936587 33936587 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr15:33936587A>G uc001zhi.2 + 28 3702 c.3632A>G c.(3631-3633)AAG>AGG p.K1211R RYR3_uc010bar.2_Missense_Mutation_p.K1211R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1211 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGTACCTTCAAGTTTTATACC 0.517 DMXL2 23312 broad.mit.edu 37 15 51763453 51763453 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr15:51763453G>A uc002abf.2 - 29 7581 c.7356C>T c.(7354-7356)CCC>CCT p.P2452P DMXL2_uc002abd.2_Silent_p.P523P|DMXL2_uc010ufy.1_Silent_p.P2453P|DMXL2_uc010bfa.2_Silent_p.P1816P NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2452 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TACTAAGTTCGGGAGGAATAA 0.408 SNX1 6642 broad.mit.edu 37 15 64422454 64422454 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr15:64422454G>C uc002amv.2 + 10 985 c.949G>C c.(949-951)GAG>CAG p.E317Q SNX1_uc010bgv.2_Missense_Mutation_p.E31Q|SNX1_uc010uio.1_Missense_Mutation_p.E317Q|SNX1_uc002amw.2_Missense_Mutation_p.E317Q|SNX1_uc002amx.2_Missense_Mutation_p.E252Q|SNX1_uc002amy.2_Missense_Mutation_p.E246Q|SNX1_uc010bgw.2_Missense_Mutation_p.E219Q NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 317 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 CCAGGAGGTAGAGTGTGAGGA 0.448 RASGRF1 5923 broad.mit.edu 37 15 79339211 79339211 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr15:79339211T>G uc002beq.2 - 5 1130 c.755A>C c.(754-756)GAG>GCG p.E252A RASGRF1_uc002bep.2_Missense_Mutation_p.E252A|RASGRF1_uc010blm.1_Missense_Mutation_p.E174A|RASGRF1_uc002ber.3_Missense_Mutation_p.E252A NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 252 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GTACTCAGCCTCAGCCTCCAG 0.597 CPEB1 64506 broad.mit.edu 37 15 83218272 83218272 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr15:83218272T>G uc002bit.2 - 9 1669 c.1532A>C c.(1531-1533)AAC>ACC p.N511T CPEB1_uc002biq.2_Missense_Mutation_p.N371T|CPEB1_uc002bir.2_Missense_Mutation_p.N376T|CPEB1_uc002bis.2_Missense_Mutation_p.N371T|CPEB1_uc010uod.1_Missense_Mutation_p.N220T|CPEB1_uc010uoe.1_Missense_Mutation_p.N449T|CPEB1_uc002biu.2_Missense_Mutation_p.N473T|CPEB1_uc010uof.1_Missense_Mutation_p.N371T|CPEB1_uc002biv.2_Missense_Mutation_p.N446T|CPEB1_uc002bip.2_Missense_Mutation_p.N220T NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 451 RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) AAATAGGTCGTTCAAGATGGC 0.532 MAN2A2 4122 broad.mit.edu 37 15 91459446 91459446 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr15:91459446G>A uc010bnz.2 + 20 3069 c.2954G>A c.(2953-2955)CGT>CAT p.R985H MAN2A2_uc002bqc.2_Missense_Mutation_p.R985H|MAN2A2_uc010uql.1_Missense_Mutation_p.R647H|MAN2A2_uc010uqm.1_Missense_Mutation_p.R564H|MAN2A2_uc010uqn.1_RNA NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 985 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) ACCTGCAACCGTTTCCGCCTC 0.652 MSLN 10232 broad.mit.edu 37 16 817420 817420 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:817420G>A uc002cjw.1 + 15 1621 c.1570G>A c.(1570-1572)GTG>ATG p.V524M MSLN_uc002cjt.1_Missense_Mutation_p.V516M|MSLN_uc002cju.1_Missense_Mutation_p.V516M|MSLN_uc010brd.1_Missense_Mutation_p.V515M|MSLN_uc002cjv.1_Missense_Mutation_p.V516M|MSLN_uc002cjx.1_Missense_Mutation_p.V516M|MSLN_uc002cjy.1_Missense_Mutation_p.V181M|MIR662_hsa-mir-662|MI0003670_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 524 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) TCAGCAGAATGTGAGCATGGA 0.532 A2BP1 54715 broad.mit.edu 37 16 7568167 7568167 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:7568167G>A uc002cys.2 + 5 1034 c.46G>A c.(46-48)GCT>ACT p.A16T A2BP1_uc010buf.1_Missense_Mutation_p.A16T|A2BP1_uc002cyr.1_Missense_Mutation_p.A16T|A2BP1_uc002cyt.2_Missense_Mutation_p.A16T|A2BP1_uc010uxz.1_Missense_Mutation_p.A59T|A2BP1_uc010uya.1_Missense_Mutation_p.A52T|A2BP1_uc002cyv.1_Missense_Mutation_p.A16T|A2BP1_uc010uyb.1_Missense_Mutation_p.A16T|A2BP1_uc002cyw.2_Missense_Mutation_p.A36T|A2BP1_uc002cyy.2_Missense_Mutation_p.A36T|A2BP1_uc002cyx.2_Missense_Mutation_p.A36T|A2BP1_uc010uyc.1_Missense_Mutation_p.A36T NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 16 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) GGAAGCAGCCGCTGCCCCTGA 0.592 SMG1 23049 broad.mit.edu 37 16 18883833 18883833 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:18883833C>T uc002dfm.2 - 14 2367 c.2004G>A c.(2002-2004)TTG>TTA p.L668L SMG1_uc010bwb.2_Silent_p.L528L NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 668 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AATGAGAATACAATGTGTAGA 0.358 ZNF423 23090 broad.mit.edu 37 16 49671081 49671081 + Missense_Mutation SNP T T G rs145272522 by1000genomes TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:49671081T>G uc002efs.2 - 5 2280 c.1982A>C c.(1981-1983)AAG>ACG p.K661T ZNF423_uc010vgn.1_Missense_Mutation_p.K544T NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 661 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCACGCTTGCTTCCGCAGCAG 0.557 SNX20 124460 broad.mit.edu 37 16 50709712 50709712 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:50709712C>G uc002egk.2 - 3 424 c.251G>C c.(250-252)CGC>CCC p.R84P SNX20_uc010vgp.1_Missense_Mutation_p.R84P|SNX20_uc002egi.3_Missense_Mutation_p.R84P NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 84 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 CTCCTCGATGCGAGCTGAAGC 0.413 MMP2 4313 broad.mit.edu 37 16 55519277 55519277 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:55519277C>T uc002ehz.3 + 4 907 c.596C>T c.(595-597)ACT>ATT p.T199I MMP2_uc010vhd.1_Missense_Mutation_p.T123I|MMP2_uc010ccc.2_Missense_Mutation_p.T149I NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 199 Collagenase-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GCCCCAGGCACTGGTGTTGGG 0.567 CDH3 1001 broad.mit.edu 37 16 68718510 68718510 + Nonsense_Mutation SNP C C T rs143523495 by1000genomes TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:68718510C>T uc002ewf.2 + 10 2339 c.1207C>T c.(1207-1209)CAG>TAG p.Q403* CDH3_uc010vli.1_Nonsense_Mutation_p.Q348* NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 403 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GGCCAAAAACCAGCACACCCT 0.522 BCMO1 53630 broad.mit.edu 37 16 81298282 81298282 + Missense_Mutation SNP C C T rs119478057 byFrequency TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:81298282C>T uc002fgn.1 + 5 727 c.509C>T c.(508-510)ACG>ATG p.T170M BCMO1_uc010vnp.1_Missense_Mutation_p.T101M NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 170 T -> M (in ADHVAD; has about 90% decreased enzyme activity compared to wild-type; no evidence for a dominant- negative effect; consistent with a loss- of-function mutation resulting in haploinsufficiency). retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 AATCTGGCAACGTCACATCCC 0.403 JPH3 57338 broad.mit.edu 37 16 87678559 87678559 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr16:87678559C>T uc002fkd.2 + 2 1332 c.1078C>T c.(1078-1080)CGC>TGC p.R360C JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 360 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) CAGCAAGATCCGCGAGAAGGT 0.672 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGTGGGGGCAGCGCCTCAC 0.652 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) EVI2B 2124 broad.mit.edu 37 17 29631447 29631447 + Nonsense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:29631447G>T uc002hgk.2 - 2 1336 c.1181C>A c.(1180-1182)TCA>TAA p.S394* NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Nonsense_Mutation_p.S409* NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 394 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) CGGTGGAAATGATTGTATTAT 0.413 C17orf98 388381 broad.mit.edu 37 17 36991500 36991500 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:36991500G>A uc002hqv.2 - 3 407 c.407C>T c.(406-408)CCA>CTA p.P136L NM_001080465 NP_001073934 A8MV24 CQ098_HUMAN hypothetical protein LOC388381 136 0 ACGGAGGGCTGGAGTGTTCCT 0.527 RUNDC1 146923 broad.mit.edu 37 17 41143004 41143004 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:41143004G>A uc002ici.1 + 5 1125 c.1113G>A c.(1111-1113)AGG>AGA p.R371R RUNDC1_uc010whi.1_Silent_p.R141R NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 371 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TGTGGCAGAGGGTCCAGGCTG 0.597 FZD2 2535 broad.mit.edu 37 17 42636499 42636499 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:42636499C>T uc002igx.1 + 1 1575 c.1443C>T c.(1441-1443)TTC>TTT p.F481F NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 481 Helical; Name=6; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CTTGCTACTTCTACGAGCAGG 0.647 NFE2L1 4779 broad.mit.edu 37 17 46128574 46128574 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:46128574C>T uc002imz.3 + 2 745 c.94C>T c.(94-96)CTG>TTG p.L32L NFE2L1_uc002ina.3_Silent_p.L32L|NFE2L1_uc002inb.3_Silent_p.L32L|NFE2L1_uc002inc.1_Silent_p.L32L NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 32 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 GGATACTTACCTGACCTCACA 0.507 BZRAP1 9256 broad.mit.edu 37 17 56386420 56386420 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:56386420G>A uc002ivx.3 - 22 5084 c.4213C>T c.(4213-4215)CGG>TGG p.R1405W BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.R1345W|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1405W NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1405 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTCTCCTCCGGCTGCTTCCA 0.637 BZRAP1 9256 broad.mit.edu 37 17 56396519 56396519 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:56396519A>G uc002ivx.3 - 13 2502 c.1631T>C c.(1630-1632)CTT>CCT p.L544P BZRAP1_uc010dcs.2_Missense_Mutation_p.L484P|BZRAP1_uc010wnt.1_Missense_Mutation_p.L544P NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 544 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCAGTCTCCAAGGCTCCCACA 0.647 RGS9 8787 broad.mit.edu 37 17 63200369 63200369 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:63200369C>T uc002jfe.2 + 15 1263 c.1153C>T c.(1153-1155)CGC>TGC p.R385C RGS9_uc010dem.2_Missense_Mutation_p.R382C|RGS9_uc002jfd.2_Missense_Mutation_p.R382C|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R156C NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 385 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 GCACCCCCACCGCTATGTGCT 0.587 AXIN2 8313 broad.mit.edu 37 17 63532604 63532604 + Missense_Mutation SNP G G A rs142670753 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:63532604G>A uc002jfi.2 - 8 2264 c.1975C>T c.(1975-1977)CGG>TGG p.R659W AXIN2_uc002jfh.2_Missense_Mutation_p.R594W NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 659 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 AGATGGTGCCGGCTGGCTCGT 0.632 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome GPRC5C 55890 broad.mit.edu 37 17 72428204 72428204 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr17:72428204A>G uc002jkp.2 + 1 538 c.27A>G c.(25-27)CAA>CAG p.Q9Q GPRC5C_uc002jkq.2_Silent_p.Q9Q|GPRC5C_uc002jkr.2_5'Flank NM_022036 NP_071319 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, Error:Variant_position_missing_in_Q9NQ84_after_alignment cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GTCAACAGCAACAACCCACAC 0.682 SLC14A2 8170 broad.mit.edu 37 18 43262407 43262407 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr18:43262407C>T uc010dnj.2 + 21 3007 c.2686C>T c.(2686-2688)CGC>TGC p.R896C SLC14A2_uc002lbe.2_Missense_Mutation_p.R896C NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 896 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 AGAGGCCAACCGCATCTACTA 0.512 DCC 1630 broad.mit.edu 37 18 50994343 50994343 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr18:50994343G>T uc002lfe.1 + 25 4286 c.3699G>T c.(3697-3699)AAG>AAT p.K1233N DCC_uc010dpf.1_Missense_Mutation_p.K868N NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1233 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCCGGGCCAAGCTCATGATTC 0.488 MUC16 94025 broad.mit.edu 37 19 9010994 9010994 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:9010994C>T uc002mkp.2 - 37 39128 c.38924G>A c.(38923-38925)CGG>CAG p.R12975Q MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACAGAGCTCCGATGGGTGAA 0.532 MUC16 94025 broad.mit.edu 37 19 9073053 9073053 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:9073053G>A uc002mkp.2 - 3 14597 c.14393C>T c.(14392-14394)ACC>ATC p.T4798I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4800 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGTGAACTGGTCACTGTTTC 0.453 MUC16 94025 broad.mit.edu 37 19 9076960 9076960 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:9076960C>G uc002mkp.2 - 3 10690 c.10486G>C c.(10486-10488)GAG>CAG p.E3496Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3497 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCAGAGTCTCAAGCCCTATT 0.512 TRMT1 55621 broad.mit.edu 37 19 13226181 13226181 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:13226181C>T uc002mwj.2 - 4 803 c.553G>A c.(553-555)GCC>ACC p.A185T NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.A185T|TRMT1_uc002mwl.3_Missense_Mutation_p.A185T|TRMT1_uc010xmz.1_5'UTR NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 185 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CGGGTGGAGGCATCGTTTGCA 0.602 ZNF430 80264 broad.mit.edu 37 19 21240536 21240536 + Silent SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:21240536A>T uc002npj.2 + 5 1532 c.1422A>T c.(1420-1422)GCA>GCT p.A474A ZNF430_uc002npk.2_Silent_p.A473A NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 474 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 AACTTACTGCACATAAGGTAA 0.373 ANKRD27 84079 broad.mit.edu 37 19 33106644 33106644 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:33106644C>A uc002ntn.1 - 22 2251 c.2095G>T c.(2095-2097)GCG>TCG p.A699S NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 699 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) GTGTCCTCCGCATCCTCCAGG 0.547 CEBPG 1054 broad.mit.edu 37 19 33870289 33870289 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:33870289C>T uc002nup.2 + 2 433 c.144C>T c.(142-144)CCC>CCT p.P48P NM_001806 NP_001797 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein gamma 48 B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Esophageal squamous(110;0.137) CTGTGGCTCCCAGCAAGCAGA 0.557 ZNF566 84924 broad.mit.edu 37 19 36940522 36940522 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:36940522C>A uc002oea.3 - 5 696 c.614G>T c.(613-615)GGA>GTA p.G205V ZNF566_uc010xte.1_Missense_Mutation_p.G205V|ZNF566_uc010xtf.1_Missense_Mutation_p.G206V|ZNF566_uc002oeb.3_Missense_Mutation_p.G205V|ZNF566_uc002oec.3_Missense_Mutation_p.G101V|ZNF566_uc010xtg.1_Missense_Mutation_p.G101V NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 205 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) AAAGGACTTTCCACATTCCTT 0.363 B9D2 80776 broad.mit.edu 37 19 41863923 41863923 + Silent SNP C C T rs142424836 by1000genomes TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:41863923C>T uc002oqj.2 - 3 313 c.93G>A c.(91-93)GCG>GCA p.A31A CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron NM_030578 NP_085055 Q9BPU9 B9D2_HUMAN B9 protein domain 2 31 B9. cilium assembly|mitotic prometaphase centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus gamma-tubulin binding ovary(1) 1 GCTTCCATGCCGCCCCTGCAG 0.627 GPR77 27202 broad.mit.edu 37 19 47844598 47844598 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:47844598C>T uc010ela.1 + 2 760 c.542C>T c.(541-543)CCA>CTA p.P181L GPR77_uc002pgk.1_Missense_Mutation_p.P181L NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 181 Extracellular (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) GAGCACTTCCCAGCCCGGCTG 0.677 KPTN 11133 broad.mit.edu 37 19 47981013 47981013 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:47981013A>G uc002pgy.2 - 9 917 c.813T>C c.(811-813)GAT>GAC p.D271D KPTN_uc010xys.1_RNA NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 271 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) CGCTGTACTCATCTTGTAGTG 0.388 SCAF1 58506 broad.mit.edu 37 19 50161535 50161535 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:50161535G>A uc002poq.2 + 11 3942 c.3818G>A c.(3817-3819)CGC>CAC p.R1273H NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1273 Necessary for interaction with the CTD domain of POLR2A. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TACGTCCAGCGCTACCGCTAC 0.682 ZNF320 162967 broad.mit.edu 37 19 53367302 53367302 + RNA SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:53367302C>A uc010eqh.1 - 3 c.375G>T ZNF320_uc010eqi.1_RNA A2RRD8 ZN320_HUMAN Homo sapiens full length insert cDNA clone ZD42C02. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) ACTCCAGGTTCCTGTAGTTCT 0.458 NLRP2 55655 broad.mit.edu 37 19 55494466 55494466 + Missense_Mutation SNP G G A rs147804224 byFrequency TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:55494466G>A uc002qij.2 + 6 1486 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q NLRP2_uc010yfp.1_Missense_Mutation_p.R444Q|NLRP2_uc010esn.2_Missense_Mutation_p.R443Q|NLRP2_uc010eso.2_Missense_Mutation_p.R464Q|NLRP2_uc010esp.2_Missense_Mutation_p.R445Q NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 467 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTGCTTCACCGAGAGGATCTG 0.687 NLRP13 126204 broad.mit.edu 37 19 56419255 56419255 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr19:56419255G>C uc010ygg.1 - 7 2375 c.2350C>G c.(2350-2352)CTG>GTG p.L784V NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 784 LRR 2. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGATGGGTCAGCTTGCTGTTA 0.488 ALK 238 broad.mit.edu 37 2 29462633 29462633 + Silent SNP G G A rs149853746 byFrequency TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:29462633G>A uc002rmy.2 - 13 3175 c.2268C>T c.(2266-2268)GGC>GGT p.G756G NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 756 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCACAGACACGCCGTGGGACC 0.602 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome PRKCE 5581 broad.mit.edu 37 2 46411945 46411945 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:46411945C>T uc002rut.2 + 15 2336 c.2139C>T c.(2137-2139)GAC>GAT p.D713D NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 713 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CCCTTGTGGACGAAGCAATTG 0.468 SOCS5 9655 broad.mit.edu 37 2 46987047 46987047 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:46987047A>G uc002rvf.2 + 2 1542 c.1378A>G c.(1378-1380)AAA>GAA p.K460E SOCS5_uc010yoe.1_Missense_Mutation_p.K429E|SOCS5_uc002rvg.2_Missense_Mutation_p.K460E NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 460 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AGAACATTATAAAGATCCCAG 0.433 CTNNA2 1496 broad.mit.edu 37 2 80773040 80773040 + Missense_Mutation SNP T T A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:80773040T>A uc010ysh.1 + 10 1397 c.1392T>A c.(1390-1392)AAT>AAA p.N464K CTNNA2_uc010yse.1_Missense_Mutation_p.N464K|CTNNA2_uc010ysf.1_Missense_Mutation_p.N464K|CTNNA2_uc010ysg.1_Missense_Mutation_p.N464K|CTNNA2_uc010ysi.1_Missense_Mutation_p.N96K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 464 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGGTCATCAATGCCGCTCTGA 0.498 C2orf68 388969 broad.mit.edu 37 2 85839180 85839180 + Splice_Site SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:85839180G>A uc002sqc.2 - 1 1 c.-71_splice c.e1-1 USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank|C2orf68_uc002sqd.2_Splice_Site NM_001013649 NP_001013671 Q2NKX9 CB068_HUMAN hypothetical protein LOC388969 central_nervous_system(1) 1 AGAGCTCCGCGCCGCCCCTTG 0.736 ADRA2B 151 broad.mit.edu 37 2 96780826 96780826 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:96780826G>A uc002svi.2 - 3 1072 c.1072C>T c.(1072-1074)CGT>TGT p.R358C NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 358 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GCCCGTCGACGCCACCACTGC 0.662 MAP4K4 9448 broad.mit.edu 37 2 102460759 102460759 + Nonsense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:102460759C>T uc002tbg.2 + 12 1274 c.1219C>T c.(1219-1221)CGA>TGA p.R407* MAP4K4_uc002tbc.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbd.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbe.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbf.2_Nonsense_Mutation_p.R407*|MAP4K4_uc010yvy.1_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbh.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbi.2_Nonsense_Mutation_p.R260*|MAP4K4_uc010yvz.1_Nonsense_Mutation_p.R387*|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Nonsense_Mutation_p.R303* NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 407 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AGAACAGAGGCGACGGCTAGA 0.468 ZC3H6 376940 broad.mit.edu 37 2 113088794 113088794 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:113088794G>T uc002thq.1 + 12 2693 c.2299G>T c.(2299-2301)GAC>TAC p.D767Y NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 767 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 CCCAAGGCAAGACATTAGAAA 0.473 CCDC74B 91409 broad.mit.edu 37 2 130897230 130897230 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:130897230G>A uc002tqm.1 - 8 1103 c.1041C>T c.(1039-1041)GCC>GCT p.A347A CCDC74B_uc010yzw.1_Silent_p.A449A|CCDC74B_uc002tqn.1_Silent_p.A281A NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 347 0 Colorectal(110;0.1) CGGGCAGGATGGCACGCTCCG 0.642 NCKAP5 344148 broad.mit.edu 37 2 133540023 133540023 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:133540023G>T uc002ttp.2 - 14 4735 c.4361C>A c.(4360-4362)GCC>GAC p.A1454D NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1454 protein binding 0 GGTTGCAGAGGCATCTGGATG 0.517 LCT 3938 broad.mit.edu 37 2 136566344 136566344 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:136566344C>A uc002tuu.1 - 8 3584 c.3573G>T c.(3571-3573)GAG>GAT p.E1191D NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1191 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TCTTCTCTTCCTCAGTGAAGC 0.532 TANC1 85461 broad.mit.edu 37 2 160086925 160086925 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:160086925C>T uc002uag.2 + 27 5262 c.4988C>T c.(4987-4989)TCA>TTA p.S1663L TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.S507L NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1663 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CTCACCAGCTCAGGCTCTTCT 0.552 FAP 2191 broad.mit.edu 37 2 163029701 163029701 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:163029701A>T uc002ucd.2 - 24 2273 c.2065T>A c.(2065-2067)TTC>ATC p.F689I FAP_uc010fpc.2_Missense_Mutation_p.F238I|FAP_uc010zct.1_Missense_Mutation_p.F664I|FAP_uc010fpd.2_Missense_Mutation_p.F168I NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 689 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 ACATTTCTGAAATATTCTGCT 0.348 TTN 7273 broad.mit.edu 37 2 179432952 179432952 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:179432952G>T uc010zfg.1 - 275 70427 c.70203C>A c.(70201-70203)AAC>AAA p.N23401K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N17096K|TTN_uc010zfi.1_Missense_Mutation_p.N17029K|TTN_uc010zfj.1_Missense_Mutation_p.N16904K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24328 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E23401K(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCCATATCTGTTTTCGGCAA 0.413 TTN 7273 broad.mit.edu 37 2 179452058 179452058 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:179452058C>T uc010zfg.1 - 256 56400 c.56176G>A c.(56176-56178)GGT>AGT p.G18726S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12421S|TTN_uc010zfi.1_Missense_Mutation_p.G12354S|TTN_uc010zfj.1_Missense_Mutation_p.G12229S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19653 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCTCCCACCGTCGTTTTCA 0.463 TTN 7273 broad.mit.edu 37 2 179584366 179584366 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:179584366G>A uc010zfg.1 - 79 20345 c.20121C>T c.(20119-20121)GCC>GCT p.A6707A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3368A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7634 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTCATTTCGGCACAGGGGA 0.403 PPP1R1C 151242 broad.mit.edu 37 2 182852605 182852605 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:182852605C>A uc002uoo.2 + 2 408 c.121C>A c.(121-123)CTC>ATC p.L41I PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Missense_Mutation_p.L41I|PPP1R1C_uc010frm.1_Missense_Mutation_p.L48I|PPP1R1C_uc010frn.1_RNA NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) 41 signal transduction cytoplasm protein phosphatase inhibitor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0628) ACTTGTGATTCTCAATGAGCA 0.413 DNAH7 56171 broad.mit.edu 37 2 196729451 196729451 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:196729451G>T uc002utj.3 - 41 7029 c.6928C>A c.(6928-6930)CCC>ACC p.P2310T NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2310 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGGTTCATGGGTTTTTTGCTT 0.433 CXCR7 57007 broad.mit.edu 37 2 237489880 237489880 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:237489880G>A uc010fyq.2 + 3 1002 c.772G>A c.(772-774)GTG>ATG p.V258M CXCR7_uc002vwd.2_Missense_Mutation_p.V258M NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 258 Helical; Name=6; (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) CTTCTCCTACGTGGTGGTCTT 0.577 RBM44 375316 broad.mit.edu 37 2 238726967 238726967 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:238726967G>A uc002vxi.3 + 3 1540 c.1408G>A c.(1408-1410)GAC>AAC p.D470N NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 469 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TCAGACAGTGGACGTTAGCAC 0.393 PER2 8864 broad.mit.edu 37 2 239161666 239161666 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr2:239161666G>A uc002vyc.2 - 19 3235 c.2998C>T c.(2998-3000)CCT>TCT p.P1000S PER2_uc010znv.1_Missense_Mutation_p.P1000S NM_022817 NP_073728 O15055 PER2_HUMAN period 2 1000 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCACCCTCAGGGGCTTCCTCC 0.672 FAM110A 83541 broad.mit.edu 37 20 825521 825521 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr20:825521C>T uc002wef.1 + 2 410 c.74C>T c.(73-75)CCT>CTT p.P25L FAM110A_uc002weg.1_Missense_Mutation_p.P25L|FAM110A_uc002weh.1_Missense_Mutation_p.P25L|FAM110A_uc010fzz.2_5'Flank NM_001042353 NP_001035812 Q9BQ89 F110A_HUMAN hypothetical protein LOC83541 25 microtubule organizing center|spindle pole protein binding 0 ACCAGGGTCCCTGGCTACCTG 0.692 SLC4A11 83959 broad.mit.edu 37 20 3218214 3218214 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr20:3218214G>A uc002wig.2 - 1 160 c.112C>T c.(112-114)CAG>TAG p.Q38* SLC4A11_uc010zqe.1_Nonsense_Mutation_p.Q65*|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Nonsense_Mutation_p.Q22* NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 38 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 TATCCATTCTGCGACATGGTG 0.587 SMOX 54498 broad.mit.edu 37 20 4163097 4163097 + Missense_Mutation SNP C C T rs138153642 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr20:4163097C>T uc002wkm.1 + 5 1172 c.971C>T c.(970-972)CCG>CTG p.P324L SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.P324L|SMOX_uc010zqo.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.P324L NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 324 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) GAGCTGATCCCGGCGGACCAT 0.642 CST2 1470 broad.mit.edu 37 20 23805914 23805914 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr20:23805914G>T uc002wtq.1 - 2 290 c.275C>A c.(274-276)ACC>AAC p.T92N NM_001322 NP_001313 P09228 CYTT_HUMAN cystatin SA precursor 92 extracellular region cysteine-type endopeptidase inhibitor activity 0 GGTACATATGGTTCGGCCCAC 0.547 TSHZ2 128553 broad.mit.edu 37 20 51871962 51871962 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr20:51871962G>T uc002xwo.2 + 2 2921 c.1965G>T c.(1963-1965)GAG>GAT p.E655D NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 655 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGGAGGAGGAGAAGCTGATGA 0.597 BRWD1 54014 broad.mit.edu 37 21 40627657 40627657 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr21:40627657A>G uc002yxk.1 - 19 2308 c.2169T>C c.(2167-2169)GCT>GCC p.A723A BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Silent_p.A723A|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Silent_p.A176A|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Silent_p.A443A NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GACTGCGTGGAGCGTTTTGAT 0.463 TBC1D10A 83874 broad.mit.edu 37 22 30689913 30689913 + Nonsense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr22:30689913C>A uc011akt.1 - 7 916 c.892G>T c.(892-894)GAA>TAA p.E298* GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Nonsense_Mutation_p.E156*|TBC1D10A_uc003ahj.3_Nonsense_Mutation_p.E210*|TBC1D10A_uc010gvu.2_Nonsense_Mutation_p.E305*|TBC1D10A_uc003ahk.3_Nonsense_Mutation_p.E298* NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 298 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CCAGTACCTTCACAGAAGAAC 0.572 PANX2 56666 broad.mit.edu 37 22 50615660 50615660 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr22:50615660G>A uc003bjn.3 + 2 519 c.519G>A c.(517-519)GCG>GCA p.A173A PANX2_uc003bjp.3_Silent_p.A39A|PANX2_uc003bjo.3_Silent_p.A173A NM_052839 NP_443071 Q96RD6 PANX2_HUMAN pannexin 2 isoform 1 173 Cytoplasmic (Potential). protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1) 1 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) AGGGCCGCGCGCCCAAGATCG 0.657 SATB1 6304 broad.mit.edu 37 3 18435984 18435984 + Silent SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:18435984T>C uc003cbh.2 - 7 2911 c.1176A>G c.(1174-1176)GTA>GTG p.V392V SATB1_uc003cbi.2_Silent_p.V392V|SATB1_uc003cbj.2_Silent_p.V392V NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 392 CUT 1. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 CACGTGCAAATACCGCCTGGG 0.458 CLEC3B 7123 broad.mit.edu 37 3 45077363 45077363 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:45077363G>A uc003cok.3 + 3 652 c.556G>A c.(556-558)GAC>AAC p.D186N CLEC3B_uc003col.2_Missense_Mutation_p.D144N NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 186 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGTGGTTCGACAAGCGCTG 0.557 LAMB2 3913 broad.mit.edu 37 3 49166009 49166009 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:49166009G>T uc003cwe.2 - 15 2199 c.1900C>A c.(1900-1902)CAA>AAA p.Q634K LAMB2_uc003cwf.1_Missense_Mutation_p.Q634K NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 634 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTGCCCATTGCTCAGGGACC 0.582 UBA7 7318 broad.mit.edu 37 3 49847040 49847040 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:49847040C>G uc003cxr.2 - 16 2194 c.2023G>C c.(2023-2025)GGC>CGC p.G675R NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 675 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCCAGTGGCCAAGAGCCCAC 0.552 GRM2 2912 broad.mit.edu 37 3 51749696 51749696 + Missense_Mutation SNP G G A rs150657954 byFrequency TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:51749696G>A uc010hlv.2 + 4 2146 c.1907G>A c.(1906-1908)CGT>CAT p.R636H GRM2_uc003dbo.3_Missense_Mutation_p.R18H|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 636 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) ACCTTACGGCGTCTTGGTTTG 0.592 ADAMTS9 56999 broad.mit.edu 37 3 64582545 64582545 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:64582545G>A uc003dmg.2 - 27 4172 c.4140C>T c.(4138-4140)TCC>TCT p.S1380S ADAMTS9_uc011bfo.1_Silent_p.S1352S|ADAMTS9_uc003dmh.1_Silent_p.S1209S|ADAMTS9_uc011bfp.1_Silent_p.S291S NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1380 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GACAAGGGCCGGATTCACAGG 0.463 FRMD4B 23150 broad.mit.edu 37 3 69231783 69231783 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:69231783G>C uc003dnv.2 - 20 2295 c.2005C>G c.(2005-2007)CTT>GTT p.L669V FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.L321V|FRMD4B_uc011bga.1_Missense_Mutation_p.L513V NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 669 cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TTTCGGGTAAGAACTGGCGTG 0.493 FAM55C 91775 broad.mit.edu 37 3 101540691 101540691 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:101540691G>A uc003dvn.2 + 8 2210 c.1573G>A c.(1573-1575)GAG>AAG p.E525K FAM55C_uc010hpn.2_Missense_Mutation_p.E525K NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 525 extracellular region ovary(1)|pancreas(1)|skin(1) 3 CGATGCCTGGGAGATGACCCT 0.507 BBX 56987 broad.mit.edu 37 3 107435518 107435518 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:107435518C>T uc010hpr.2 + 5 554 c.227C>T c.(226-228)CCA>CTA p.P76L BBX_uc003dwk.3_Missense_Mutation_p.P76L|BBX_uc003dwl.3_Missense_Mutation_p.P76L|BBX_uc010hps.1_Missense_Mutation_p.P97L|BBX_uc003dwm.3_Missense_Mutation_p.P76L NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GATGAATCACCAGAGCAGCGA 0.463 GP9 2815 broad.mit.edu 37 3 128780765 128780765 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:128780765C>G uc003elm.2 + 3 370 c.183C>G c.(181-183)AAC>AAG p.N61K NM_000174 NP_000165 P14770 GPIX_HUMAN glycoprotein IX (platelet) precursor 61 Extracellular (Potential).|LRR. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding 0 Quinine(DB00468) TGGCCAACAACAGCCTTCAGT 0.682 PRR23B 389151 broad.mit.edu 37 3 138739150 138739150 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:138739150C>T uc003esy.1 - 1 619 c.354G>A c.(352-354)TCG>TCA p.S118S NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 118 breast(1) 1 GCCCGGCAGACGAGTCGTGCT 0.637 MME 4311 broad.mit.edu 37 3 154886304 154886304 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:154886304G>C uc010hvr.1 + 19 2015 c.1804G>C c.(1804-1806)GAC>CAC p.D602H MME_uc003fab.1_Missense_Mutation_p.D602H|MME_uc003fac.1_Missense_Mutation_p.D602H|MME_uc003fad.1_Missense_Mutation_p.D602H|MME_uc003fae.1_Missense_Mutation_p.D602H NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 602 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CAAAGATGGAGACCTCGTTGA 0.378 FNDC3B 64778 broad.mit.edu 37 3 171965381 171965381 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:171965381G>A uc003fhy.2 + 5 495 c.323G>A c.(322-324)TGT>TAT p.C108Y FNDC3B_uc003fhz.3_Missense_Mutation_p.C108Y|FNDC3B_uc003fia.2_Missense_Mutation_p.C39Y NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 108 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TCTCCTGAGTGTTATCCCCCA 0.483 EIF4A2 1974 broad.mit.edu 37 3 186503790 186503790 + Missense_Mutation SNP T T A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr3:186503790T>A uc003fqs.2 + 5 506 c.467T>A c.(466-468)GTT>GAT p.V156D EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.V157D|EIF4A2_uc003fqv.2_Missense_Mutation_p.V61D|EIF4A2_uc003fqw.2_Missense_Mutation_p.V61D|EIF4A2_uc011bsb.1_Missense_Mutation_p.V29D|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 156 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CCACATATTGTTGTTGGTACA 0.378 T BCL6 NHL PRDM5 11107 broad.mit.edu 37 4 121739673 121739673 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr4:121739673C>G uc003idn.2 - 5 735 c.485G>C c.(484-486)GGC>GCC p.G162A PRDM5_uc003ido.2_Missense_Mutation_p.G162A|PRDM5_uc010ine.2_Missense_Mutation_p.G162A|PRDM5_uc010inf.2_Missense_Mutation_p.G162A NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 162 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 CTCTTTACAGCCAAGGCGATC 0.388 FAT4 79633 broad.mit.edu 37 4 126242374 126242374 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr4:126242374C>A uc003ifj.3 + 1 4808 c.4808C>A c.(4807-4809)GCA>GAA p.A1603E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1603 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATAGTTTCAGCAACAGACCTT 0.453 TLL1 7092 broad.mit.edu 37 4 166915615 166915615 + Silent SNP C C A rs147468832 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr4:166915615C>A uc003irh.1 + 4 1091 c.444C>A c.(442-444)GCC>GCA p.A148A TLL1_uc011cjn.1_Silent_p.A148A|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 148 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTCCCAGAGCCGCTACATCAA 0.418 SEMA5A 9037 broad.mit.edu 37 5 9227000 9227000 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:9227000G>C uc003jek.2 - 7 1125 c.413C>G c.(412-414)CCT>CGT p.P138R NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 138 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GGTGCAGACAGGCGTGAATGC 0.423 CTNND2 1501 broad.mit.edu 37 5 11384956 11384956 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:11384956G>A uc003jfa.1 - 7 1143 c.998C>T c.(997-999)TCG>TTG p.S333L CTNND2_uc010itt.2_Missense_Mutation_p.S242L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 333 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GGTGGGGGGCGAGGTCACGCG 0.677 PRDM9 56979 broad.mit.edu 37 5 23526712 23526712 + Silent SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:23526712T>C uc003jgo.2 + 11 1697 c.1515T>C c.(1513-1515)AAT>AAC p.N505N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 505 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAAAGTGAATCCAGGGAACA 0.438 HNSCC(3;0.000094) PRDM9 56979 broad.mit.edu 37 5 23526955 23526955 + Silent SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:23526955G>C uc003jgo.2 + 11 1940 c.1758G>C c.(1756-1758)GGG>GGC p.G586G NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 586 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGAGTGTGGGCGGGGCTTTA 0.607 HNSCC(3;0.000094) SPEF2 79925 broad.mit.edu 37 5 35779396 35779396 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:35779396C>T uc003jjo.2 + 30 4506 c.4395C>T c.(4393-4395)ACC>ACT p.T1465T SPEF2_uc003jjp.1_Silent_p.T951T|SPEF2_uc003jjr.2_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1465 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTACCCTGACCATTGAACAGC 0.383 NNT 23530 broad.mit.edu 37 5 43609438 43609438 + Silent SNP T T C rs143463864 byFrequency TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:43609438T>C uc003joe.2 + 2 396 c.141T>C c.(139-141)CCT>CCC p.P47P NNT_uc003jof.2_Silent_p.P47P NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 47 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GTAAAGCGCCTGTAAAACCAG 0.383 SRFBP1 153443 broad.mit.edu 37 5 121311043 121311043 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:121311043A>G uc003kst.1 + 3 231 c.159A>G c.(157-159)AGA>AGG p.R53R NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 53 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) AAAACCAAAGACGGGCGCAAA 0.388 PCDHA9 9752 broad.mit.edu 37 5 140229774 140229774 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:140229774T>C uc003lhu.2 + 1 2418 c.1694T>C c.(1693-1695)CTG>CCG p.L565P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.L565P NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 565 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCGGCGCTGCTGACACCT 0.697 PCDHB13 56123 broad.mit.edu 37 5 140595824 140595824 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:140595824C>A uc003lja.1 + 1 2316 c.2129C>A c.(2128-2130)GCG>GAG p.A710E NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 710 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTCGTGGCGGTGCGGCTG 0.677 IRF4 3662 broad.mit.edu 37 6 394831 394831 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:394831T>C uc003msz.3 + 3 340 c.227T>C c.(226-228)CTG>CCG p.L76P IRF4_uc010jne.1_Missense_Mutation_p.L76P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.L76P|IRF4_uc003mtc.1_5'Flank NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 76 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GCTTGGGCACTGTTTAAAGGA 0.408 T IGH@ MM CCDC90A 63933 broad.mit.edu 37 6 13792193 13792193 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:13792193G>T uc003nbd.2 - 8 1069 c.941C>A c.(940-942)ACA>AAA p.T314K uc003nbc.1_5'Flank|CCDC90A_uc010jpf.2_RNA NM_001031713 NP_001026883 Q96AQ8 CC90A_HUMAN coiled-coil domain containing 90A precursor 314 integral to membrane|mitochondrion 0 Breast(50;0.0027)|Ovarian(93;0.0964) all_hematologic(90;0.117) CTTCCTGTCTGTCTGGGTAAG 0.458 ATXN1 6310 broad.mit.edu 37 6 16328351 16328351 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:16328351C>T uc003nbt.2 - 8 1162 c.191G>A c.(190-192)GGG>GAG p.G64E ATXN1_uc010jpi.2_Missense_Mutation_p.G64E|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 64 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CACCGAGGTCCCTGCCGGCCC 0.672 TFEB 7942 broad.mit.edu 37 6 41652678 41652678 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:41652678C>T uc003oqs.1 - 10 1392 c.1090G>A c.(1090-1092)GCT>ACT p.A364T TFEB_uc003oqt.1_Missense_Mutation_p.A364T|TFEB_uc003oqu.1_Missense_Mutation_p.A378T|TFEB_uc003oqr.1_Missense_Mutation_p.A279T NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 364 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGACCTCAGCCCCCAGCATC 0.682 T ALPHA renal (childhood epithelioid) FAM83B 222584 broad.mit.edu 37 6 54806546 54806546 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:54806546C>A uc003pck.2 + 5 2893 c.2777C>A c.(2776-2778)TCT>TAT p.S926Y NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 926 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CTTCTACGATCTCATTCAACT 0.433 FAM83B 222584 broad.mit.edu 37 6 54806610 54806610 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:54806610T>G uc003pck.2 + 5 2957 c.2841T>G c.(2839-2841)ATT>ATG p.I947M NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 947 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) AGAGCTCTATTCAGCCAACAA 0.438 DST 667 broad.mit.edu 37 6 56819242 56819242 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:56819242C>T uc003pdf.2 - 1 172 c.144G>A c.(142-144)CCG>CCA p.P48P BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment 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|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 ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCGATTTCATCGGATGCCTCC 0.562 COL9A1 1297 broad.mit.edu 37 6 71004163 71004163 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:71004163C>T uc003pfg.3 - 5 562 c.403G>A c.(403-405)GAT>AAT p.D135N NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 135 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CCAGAGGAATCCTGAATCTGC 0.433 KCNQ5 56479 broad.mit.edu 37 6 73332128 73332128 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:73332128G>A uc003pgk.2 + 1 558 c.211G>A c.(211-213)GGC>AGC p.G71S KCNQ5_uc003pgj.3_Missense_Mutation_p.G71S|KCNQ5_uc011dyh.1_Missense_Mutation_p.G71S|KCNQ5_uc011dyi.1_Missense_Mutation_p.G71S|KCNQ5_uc010kat.2_Missense_Mutation_p.G71S|KCNQ5_uc011dyj.1_Missense_Mutation_p.G71S|KCNQ5_uc011dyk.1_5'UTR NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 71 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCTCGGTGGCGGCGGCGGTGG 0.746 MDN1 23195 broad.mit.edu 37 6 90417179 90417179 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:90417179C>G uc003pnn.1 - 52 8031 c.7915G>C c.(7915-7917)GAC>CAC p.D2639H NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2639 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTCCCGGTCAAGATATATG 0.358 FAM184A 79632 broad.mit.edu 37 6 119338083 119338083 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:119338083C>A uc003pyj.2 - 5 1707 c.1359G>T c.(1357-1359)CAG>CAT p.Q453H FAM184A_uc003pyk.3_Missense_Mutation_p.Q333H|FAM184A_uc003pyl.3_Missense_Mutation_p.Q333H NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 453 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 AATATTCTTGCTGAGTTCTCT 0.338 MAN1A1 4121 broad.mit.edu 37 6 119670147 119670147 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:119670147C>T uc003pym.1 - 2 526 c.84G>A c.(82-84)AGG>AGA p.R28R MAN1A1_uc010kei.1_Silent_p.R28R NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 28 Cytoplasmic (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) CCGACCCCTTCCTGCCAccgc 0.522 HEY2 23493 broad.mit.edu 37 6 126080780 126080780 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:126080780C>T uc003qad.2 + 5 1037 c.846C>T c.(844-846)TTC>TTT p.F282F HEY2_uc011ebr.1_Silent_p.F236F NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 282 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CTCTGTCCTTCGCGGGGGCAT 0.672 SYNE1 23345 broad.mit.edu 37 6 152718079 152718079 + Missense_Mutation SNP G G T rs144336474 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:152718079G>T uc010kiw.2 - 50 7989 c.7387C>A c.(7387-7389)CTT>ATT p.L2463I SYNE1_uc003qot.3_Missense_Mutation_p.L2470I|SYNE1_uc003qou.3_Missense_Mutation_p.L2463I|SYNE1_uc010kjb.1_Missense_Mutation_p.L2446I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2463 Spectrin 4.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTGCATCAAGTTTGCTCTGC 0.388 HNSCC(10;0.0054) C6orf118 168090 broad.mit.edu 37 6 165715680 165715680 + Missense_Mutation SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr6:165715680A>C uc003qum.3 - 2 167 c.131T>G c.(130-132)CTT>CGT p.L44R C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 44 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCGATTCAGAAGTTTCTTCAG 0.537 TMEM195 392636 broad.mit.edu 37 7 15405215 15405215 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:15405215C>T uc003stb.1 - 12 1357 c.1187G>A c.(1186-1188)CGT>CAT p.R396H NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 396 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 CATCAAGCAACGGAGAGTTTC 0.363 NFE2L3 9603 broad.mit.edu 37 7 26224557 26224557 + Silent SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:26224557T>C uc003sxq.2 + 4 1511 c.1239T>C c.(1237-1239)GAT>GAC p.D413D NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 413 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 AGCTTTTTGATGAACCAGATT 0.363 ZNF479 90827 broad.mit.edu 37 7 57188696 57188696 + Nonsense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:57188696A>T uc010kzo.2 - 5 697 c.426T>A c.(424-426)TAT>TAA p.Y142* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TAACTTCACTATAACCTCCCT 0.308 DNAJC30 84277 broad.mit.edu 37 7 73097334 73097334 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:73097334G>A uc003tys.1 - 1 448 c.420C>T c.(418-420)ACC>ACT p.T140T WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank NM_032317 NP_115693 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog subfamily C member 30 140 protein folding heat shock protein binding|unfolded protein binding 0 TGGGCGGCGGGGTACGCGGCG 0.711 LMOD2 442721 broad.mit.edu 37 7 123302309 123302309 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:123302309C>T uc003vky.2 + 2 826 c.669C>T c.(667-669)AAC>AAT p.N223N NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 223 cytoskeleton actin binding|tropomyosin binding 0 ACATTGAGAACATCACAACAC 0.483 ADCK2 90956 broad.mit.edu 37 7 140373462 140373462 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:140373462T>C uc003vvy.1 + 1 510 c.332T>C c.(331-333)TTC>TCC p.F111S ADCK2_uc003vvz.2_Missense_Mutation_p.F111S NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 111 Helical; (Potential). integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) GTGAAATTCTTCCCCCTCCTA 0.677 CASP2 835 broad.mit.edu 37 7 142989724 142989724 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:142989724C>T uc003wco.2 + 4 555 c.408C>T c.(406-408)TAC>TAT p.Y136Y CASP2_uc003wcp.2_Intron|CASP2_uc011kta.1_Silent_p.Y20Y|CASP2_uc003wcq.2_RNA NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 136 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) GCTGTGACTACGACTTGAGTC 0.473 OR2A2 442361 broad.mit.edu 37 7 143807364 143807364 + Missense_Mutation SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:143807364A>C uc011ktz.1 + 1 689 c.689A>C c.(688-690)AAG>ACG p.K230T NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) ATCCAGACAAAGGAGGGCCGC 0.517 PTPRN2 5799 broad.mit.edu 37 7 157931128 157931128 + Silent SNP G G A rs140368368 TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr7:157931128G>A uc003wno.2 - 7 1111 c.990C>T c.(988-990)GAC>GAT p.D330D PTPRN2_uc003wnp.2_Silent_p.D313D|PTPRN2_uc003wnq.2_Silent_p.D330D|PTPRN2_uc003wnr.2_Silent_p.D292D|PTPRN2_uc011kwa.1_Silent_p.D353D NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 330 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CAGCCATGCCGTCCAGCTCCA 0.637 DLGAP2 9228 broad.mit.edu 37 8 1497185 1497185 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr8:1497185C>T uc003wpl.2 + 2 423 c.326C>T c.(325-327)CCG>CTG p.P109L DLGAP2_uc003wpm.2_Missense_Mutation_p.P109L NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 188 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AACCGCATCCCGGCCAACCTG 0.687 TEX15 56154 broad.mit.edu 37 8 30701748 30701748 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr8:30701748A>G uc003xil.2 - 1 4786 c.4786T>C c.(4786-4788)TCA>CCA p.S1596P NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1596 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCACGTATGACGCAGGTTTC 0.398 TEX15 56154 broad.mit.edu 37 8 30701929 30701929 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr8:30701929C>T uc003xil.2 - 1 4605 c.4605G>A c.(4603-4605)CCG>CCA p.P1535P NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1535 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTTGTTAAGCGGATTAGAAA 0.353 TEX15 56154 broad.mit.edu 37 8 30704291 30704291 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr8:30704291T>G uc003xil.2 - 1 2243 c.2243A>C c.(2242-2244)AAG>ACG p.K748T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 748 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTTACTTTCCTTAGAATAATG 0.353 PGCP 10404 broad.mit.edu 37 8 98078419 98078419 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr8:98078419G>A uc003yhw.2 + 7 1402 c.1236G>A c.(1234-1236)TGG>TGA p.W412* NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 412 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) TCAACTTTTGGATCCAAGCTG 0.433 EIF2C2 27161 broad.mit.edu 37 8 141545600 141545600 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr8:141545600G>A uc003yvn.2 - 17 2278 c.2238C>T c.(2236-2238)TTC>TTT p.F746F EIF2C2_uc010men.2_Silent_p.F669F|EIF2C2_uc010meo.2_Intron NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 746 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GGTAGAAGTCGAACTCGGTGG 0.562 PTCH1 5727 broad.mit.edu 37 9 98241322 98241322 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr9:98241322G>A uc004avk.3 - 8 1363 c.1175C>T c.(1174-1176)GCG>GTG p.A392V PTCH1_uc010mro.2_Missense_Mutation_p.A241V|PTCH1_uc010mrp.2_Missense_Mutation_p.A241V|PTCH1_uc010mrq.2_Missense_Mutation_p.A241V|PTCH1_uc004avl.3_Missense_Mutation_p.A241V|PTCH1_uc010mrr.2_Missense_Mutation_p.A326V|PTCH1_uc004avm.3_Missense_Mutation_p.A391V|PTCH1_uc010mrs.1_Missense_Mutation_p.A112V NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 392 Extracellular (Potential). 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 skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GATGGCTGCCGCTTTGTCCTC 0.517 Basal_Cell_Nevus_syndrome FAM78A 286336 broad.mit.edu 37 9 134136311 134136311 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr9:134136311C>T uc004cak.2 - 2 1090 c.750G>A c.(748-750)CCG>CCA p.P250P FAM78A_uc004caj.2_Silent_p.P247P NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 250 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GGGCGCTGGGCGGGATGGGCT 0.687 KDM5C 8242 broad.mit.edu 37 X 53243871 53243871 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chrX:53243871C>T uc004drz.2 - 8 1655 c.1122G>A c.(1120-1122)GCG>GCA p.A374A KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A307A|KDM5C_uc004dsa.2_Silent_p.A373A NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 374 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GAGGCCTTACCGCCATGACAC 0.557 N|F|S clear cell renal carcinoma LPCAT1 79888 broad.mit.edu 37 5 1471036 1471052 + Splice_Site DEL CGCTCTGTGGGGAGAGA CGCTCTGTGGGGAGAGA - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:1471035_1471051CCGCTCTGTGGGGAGAGA>C uc003jcm.3 - 12 1297 c.1180_splice c.e12-1 p.S394_splice NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA. 394 EF-hand 1. phospholipid biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CTCGCCGCTGCCGCTCTGTGGGGAGAGACGCTCTCAG 0.636 COPB1 1315 broad.mit.edu 37 11 14520475 14520476 + Translation_Start_Site INS - - GGTTTCTG TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:14520474_14520475T>TGGTTTCTG uc001mlh.2 - 1 COPB1_uc001mli.2_Start_Codon_Ins|COPB1_uc001mlg.2_Start_Codon_Ins|PSMA1_uc010rcp.1_Non-coding_Transcript NM_001144061 NP_057535 P53618 COPB_HUMAN Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 GCCGCCGTCATGGTTTCTGGTT 0.337 GAS6 2621 broad.mit.edu 37 13 114542799 114542799 + Frame_Shift_Del DEL T T - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr13:114542799delT uc001vud.2 - 5 521 c.368delA c.(367-369)AACfs p.N123fs uc010tki.1_5'Flank NM_000820 NP_000811 Q14393 GAS6_HUMAN growth arrest-specific 6 isoform 1 precursor 123 EGF-like 1; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4) 4 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) ATCGCAGGGGTTGGGCGTGCA 0.622 RPS6KC1 26750 broad.mit.edu 37 1 213415473 213415475 + In_Frame_Del DEL TTT TTT - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr1:213415472_213415474ATTT>A uc010ptr.2 + 10 2812_2814 c.2653_2655ATTT>A c.(2653-2655)att>A p.I885del RPS6KC1_uc001hkd.3_In_Frame_Del_p.I873del|RPS6KC1_uc010pts.2_In_Frame_Del_p.I673del|RPS6KC1_uc010ptt.2_In_Frame_Del_p.I673del|RPS6KC1_uc010ptu.2_In_Frame_Del_p.I704del|RPS6KC1_uc010ptv.2_In_Frame_Del_p.I420del|RPS6KC1_uc001hke.3_In_Frame_Del_p.I704del NM_012424 NP_036556 Q96S38 KS6C1_HUMAN Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA. 885 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AATACATCAGATTTTTGAGGACC 0.429 METTL14 57721 broad.mit.edu 37 4 119631250 119631261 + In_Frame_Del DEL TACAGAAGAAAT TACAGAAGAAAT - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr4:119631249_119631260GTACAGAAGAAAT>G uc003icf.3 + 10 1279_1290 c.1163_1174GTACAGAAGAAAT>G c.(1162-1176)tgtacagaagaaatt>tGtt p.TEEI389del NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN Homo sapiens methyltransferase like 14 (METTL14), mRNA. 389 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 TTGACTGGTTGTACAGAAGAAATTGAGAGACT 0.481 LPCAT1 79888 broad.mit.edu 37 5 1471036 1471052 + Splice_Site DEL CGCTCTGTGGGGAGAGA CGCTCTGTGGGGAGAGA - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr5:1471035_1471051CCGCTCTGTGGGGAGAGA>C uc003jcm.3 - 12 1297 c.1180_splice c.e12-1 p.S394_splice NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA. 394 EF-hand 1. phospholipid biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CTCGCCGCTGCCGCTCTGTGGGGAGAGACGCTCTCAG 0.636 COPB1 1315 broad.mit.edu 37 11 14520475 14520476 + Translation_Start_Site INS - - GGTTTCTG TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c g.chr11:14520474_14520475T>TGGTTTCTG uc001mlh.2 - 1 COPB1_uc001mli.2_Start_Codon_Ins|COPB1_uc001mlg.2_Start_Codon_Ins|PSMA1_uc010rcp.1_Non-coding_Transcript NM_001144061 NP_057535 P53618 COPB_HUMAN Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 GCCGCCGTCATGGTTTCTGGTT 0.337