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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TAS1R3 83756 broad.mit.edu 37 1 1268732 1268732 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:1268732G>A uc010nyk.1 + 5 1573 c.1573G>A c.(1573-1575)GAG>AAG p.E525K NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 525 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGTGGACTGCGAGGCGGGCAG 0.692 NaN 0 0 0 0.001984 0 7 21 PRDM16 63976 broad.mit.edu 37 1 3102752 3102752 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:3102752C>A uc001akf.2 + 2 181 c.101C>A c.(100-102)GCG>GAG p.A34E PRDM16_uc001akc.2_Missense_Mutation_p.A34E|PRDM16_uc001akd.2_Missense_Mutation_p.A34E|PRDM16_uc001ake.2_Missense_Mutation_p.A34E|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 34 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGCCACAGCGCGGAGGACGAG 0.642 NaN T EVI1 MDS|AML 1 0 1.33834e-09 0.007413 1.79893e-09 17 111 C1orf127 148345 broad.mit.edu 37 1 11007721 11007721 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:11007721C>T uc010oao.1 - 8 2029 c.2024G>A c.(2023-2025)TGA>TAA p.*675* C1orf127_uc001arr.1_Silent_p.*657*|C1orf127_uc001ars.1_Silent_p.*649* NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 675 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CATGGAGGCTCAGCGTGAGGG 0.637 NaN 0 0 0 0.009096 0 4 20 MIIP 60672 broad.mit.edu 37 1 12090089 12090089 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:12090089A>T uc001ato.1 + 8 1030 c.850A>T c.(850-852)AGC>TGC p.S284C NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 284 ovary(1) 1 GCGCAGGGTGAGCATCCCGCT 0.667 NaN 0 0 0 0.007413 0 19 83 VPS13D 55187 broad.mit.edu 37 1 12429573 12429573 + Nonsense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:12429573G>T uc001atv.2 + 54 10765 c.10624G>T c.(10624-10626)GAA>TAA p.E3542* VPS13D_uc001atw.2_Nonsense_Mutation_p.E3517*|VPS13D_uc001atx.2_Nonsense_Mutation_p.E2729*|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3541 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) GCTCCGGACTGAAGTGAAGCC 0.517 NaN 1 0 1.88708e-17 0.008361 2.62165e-17 28 181 AADACL3 126767 broad.mit.edu 37 1 12785550 12785550 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:12785550G>A uc009vnn.1 + 4 873 c.640G>A c.(640-642)GCC>ACC p.A214T AADACL3_uc001aug.1_Missense_Mutation_p.A144T NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 214 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CATGAAAGGTGCCCATTTGCC 0.483 NaN 0 0 0 0.01441 0 76 61 LOC440563 440563 broad.mit.edu 37 1 13183214 13183214 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:13183214G>A uc010obg.1 - 1 754 c.659C>T c.(658-660)TCA>TTA p.S220L NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 220 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CTCCTCTTCTGACTTAGCATT 0.458 NaN 0 0 0 0.00874 0 36 120 CELA2B 51032 broad.mit.edu 37 1 15813791 15813791 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:15813791T>A uc001awl.2 + 7 676 c.651T>A c.(649-651)GGT>GGA p.G217G NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 217 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 GAGACTCCGGTGGGCCGCTGA 0.562 NaN 0 0 0 0.015359 0 30 137 PLEKHM2 23207 broad.mit.edu 37 1 16060340 16060340 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:16060340T>G uc010obo.1 + 20 3198 c.2971T>G c.(2971-2973)TTC>GTC p.F991V SLC25A34_uc001axb.1_5'Flank NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 991 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CAAGAAGAAATTCGAGGATGC 0.642 NaN 0 0 0 0.017118 0 34 130 EPHA2 1969 broad.mit.edu 37 1 16459810 16459810 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:16459810C>A uc001aya.1 - 11 2055 c.1918G>T c.(1918-1920)GAG>TAG p.E640* NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 640 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACCGGCACCTCCTTCTTCCCC 0.627 NaN 1 0 9.86323e-18 0.021523 1.37256e-17 22 113 ATP13A2 23400 broad.mit.edu 37 1 17314949 17314949 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:17314949C>G uc001baa.2 - 24 2820 c.2630G>C c.(2629-2631)GGA>GCA p.G877A ATP13A2_uc001azz.1_Missense_Mutation_p.G24A|ATP13A2_uc001bab.2_Missense_Mutation_p.G872A|ATP13A2_uc001bac.2_Missense_Mutation_p.G833A NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 877 Cytoplasmic (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) GGCGCCGTCTCCGCACATGCC 0.592 NaN 0 0 0 0.015359 0 32 141 UBR4 23352 broad.mit.edu 37 1 19441311 19441311 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:19441311C>T uc001bbi.2 - 75 11200 c.11196G>A c.(11194-11196)CGG>CGA p.R3732R UBR4_uc001bbj.1_Silent_p.R147R NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3732 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCACCTTCTTCCGGTCTTCTT 0.522 NaN 0 0 0 0.007835 0 33 183 TMCO4 255104 broad.mit.edu 37 1 20107215 20107215 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:20107215G>C uc001bcn.2 - 4 279 c.37C>G c.(37-39)CAG>GAG p.Q13E TMCO4_uc001bcm.2_Missense_Mutation_p.Q13E|TMCO4_uc001bco.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcp.1_Missense_Mutation_p.Q13E|TMCO4_uc009vpn.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcq.1_Missense_Mutation_p.Q13E NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 13 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGAGGCTGCTGAGGCAGCCTC 0.498 NaN 0 0 0 0.001168 0 6 46 KIF17 57576 broad.mit.edu 37 1 21042025 21042025 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:21042025G>C uc001bdr.3 - 2 457 c.339C>G c.(337-339)ATC>ATG p.I113M KIF17_uc001bds.3_Missense_Mutation_p.I113M NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 113 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCCTGGGGATGATGCCTCTCT 0.652 NaN 0 0 0 0.004656 0 25 107 RPL11 6135 broad.mit.edu 37 1 24021182 24021182 + Silent SNP C C T rs1059937 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:24021182C>T uc001bhk.2 + 4 317 c.297C>T c.(295-297)TTC>TTT p.F99F RPL11_uc001bhl.2_Silent_p.F98F|RPL11_uc001bhm.2_Silent_p.F88F|RPL11_uc001bhn.1_Silent_p.F88F NM_000975 NP_000966 P62913 RL11_HUMAN ribosomal protein L11 99 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) AAAACAACTTCTCAGATACTG 0.438 NaN 0 0 0 0.01441 0 84 60 RPL11 6135 broad.mit.edu 37 1 24021260 24021260 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:24021260C>G uc001bhk.2 + 4 395 c.375C>G c.(373-375)ATC>ATG p.I125M RPL11_uc001bhl.2_Missense_Mutation_p.I124M|RPL11_uc001bhm.2_Missense_Mutation_p.I114M|RPL11_uc001bhn.1_Missense_Mutation_p.I114M NM_000975 NP_000966 P62913 RL11_HUMAN ribosomal protein L11 125 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GCATTGGTATCTACGGCCTGG 0.403 NaN 0 0 0 0.01441 0 78 69 CSMD2 114784 broad.mit.edu 37 1 34208917 34208917 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:34208917A>T uc001bxn.1 - 14 2046 c.2017T>A c.(2017-2019)TCC>ACC p.S673T CSMD2_uc001bxm.1_Missense_Mutation_p.S713T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 673 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTCCCTGTGGAGTGGTCAGTC 0.597 NaN 0 0 0 0.020292 0 14 49 CSMD2 114784 broad.mit.edu 37 1 34291361 34291361 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:34291361C>G uc001bxn.1 - 7 957 c.928G>C c.(928-930)GAG>CAG p.E310Q CSMD2_uc001bxm.1_Missense_Mutation_p.E350Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 310 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACTTCAACTCAATTTGCTTC 0.537 NaN 0 0 0 0.006214 0 9 43 ZMYM1 79830 broad.mit.edu 37 1 35576046 35576046 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:35576046C>T uc001bym.2 + 8 1107 c.959C>T c.(958-960)TCA>TTA p.S320L ZMYM1_uc001byn.2_Missense_Mutation_p.S320L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S320L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.S245L NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 320 MYM-type 4. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAATCTTCTTCAGGTAATGTT 0.289 NaN 0 0 0 0.003163 0 16 102 ZMYM1 79830 broad.mit.edu 37 1 35579264 35579264 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:35579264C>T uc001bym.2 + 11 1981 c.1833C>T c.(1831-1833)TTC>TTT p.F611F ZMYM1_uc001byn.2_Silent_p.F611F|ZMYM1_uc010ohu.1_Silent_p.F592F|ZMYM1_uc001byo.2_Silent_p.F251F|ZMYM1_uc009vut.2_Silent_p.F536F NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 611 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAGTTGACTTCTATAACAGTA 0.299 NaN 0 0 0 0.004007 0 15 54 ZMYM1 79830 broad.mit.edu 37 1 35580694 35580694 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:35580694C>A uc001bym.2 + 11 3411 c.3263C>A c.(3262-3264)TCT>TAT p.S1088Y ZMYM1_uc001byn.2_Missense_Mutation_p.S1088Y|ZMYM1_uc010ohu.1_Missense_Mutation_p.S1069Y|ZMYM1_uc001byo.2_Missense_Mutation_p.S728Y|ZMYM1_uc009vut.2_Missense_Mutation_p.S1013Y NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 1088 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AACTCATTTTCTACCCTGCCT 0.398 NaN 1 0 3.08376e-08 0.01892 4.11168e-08 25 107 EIF2C4 192670 broad.mit.edu 37 1 36298149 36298149 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:36298149C>T uc001bzj.1 + 11 1547 c.1357C>T c.(1357-1359)CAA>TAA p.Q453* NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 453 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACCTCAGAAACAATGTAGGGA 0.398 NaN 0 0 0 0.005443 0 26 75 HIVEP3 59269 broad.mit.edu 37 1 41978764 41978764 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:41978764C>G uc001cgz.3 - 8 7341 c.6128G>C c.(6127-6129)AGA>ACA p.R2043T HIVEP3_uc001cha.3_Missense_Mutation_p.R2043T|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2043 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCCAGTTCTCTTCCCAGGGG 0.637 NaN 0 0 0 0.01892 0 22 100 CCDC23 374969 broad.mit.edu 37 1 43282117 43282117 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:43282117C>G uc001cib.2 - 2 334 c.99G>C c.(97-99)CAG>CAC p.Q33H ERMAP_uc010ojw.1_5'Flank|ERMAP_uc001cic.1_5'Flank|ERMAP_uc001cid.1_5'Flank NM_199342 NP_955374 Q8N300 CCD23_HUMAN coiled-coil domain containing 23 33 Potential. 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCTTTGTCTCTGCTTCAGCT 0.473 NaN 0 0 0 0.01441 0 45 247 C1orf83 127428 broad.mit.edu 37 1 54520107 54520107 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:54520107C>A uc001cwt.1 + 2 212 c.12C>A c.(10-12)TTC>TTA p.F4L C1orf83_uc001cwu.1_RNA|TMEM59_uc001cwp.2_5'Flank|TMEM59_uc001cwq.2_5'Flank|TMEM59_uc001cwr.2_5'Flank|TMEM59_uc001cws.1_5'Flank NM_153035 NP_694580 Q96MN5 TEAN2_HUMAN hypothetical protein LOC127428 4 transcription, DNA-dependent nucleus DNA binding 0 TGGATAAATTCGTCATTCGAA 0.478 NaN 1 0 0.000308642 0.003163 0.000392558 14 70 RAVER2 55225 broad.mit.edu 37 1 65273062 65273062 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:65273062C>T uc001dbs.1 + 9 1624 c.1546C>T c.(1546-1548)CTT>TTT p.L516F RAVER2_uc001dbt.1_Missense_Mutation_p.L408F|RAVER2_uc010opb.1_Intron NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 529 cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 GCAGCCTTATCTTCAGAGCTT 0.532 NaN 0 0 0 0.008291 0 11 99 IL23R 149233 broad.mit.edu 37 1 67724193 67724193 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:67724193T>G uc001ddo.2 + 11 1357 c.1272T>G c.(1270-1272)AGT>AGG p.S424R IL23R_uc009waz.2_Missense_Mutation_p.S221R|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S22R|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S6R|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S170R|IL23R_uc010opn.1_Missense_Mutation_p.S269R|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Intron|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Intron|IL23R_uc010opr.1_Intron|IL23R_uc010ops.1_Missense_Mutation_p.S221R|IL23R_uc010opt.1_Missense_Mutation_p.S65R|IL23R_uc010opu.1_Missense_Mutation_p.S120R|IL23R_uc010opv.1_Missense_Mutation_p.S182R|IL23R_uc010opw.1_Missense_Mutation_p.S59R|IL23R_uc010opx.1_Missense_Mutation_p.S65R|IL23R_uc010opy.1_Missense_Mutation_p.S191R|IL23R_uc010opz.1_Missense_Mutation_p.S65R|IL23R_uc010oqa.1_Missense_Mutation_p.S65R|IL23R_uc010oqb.1_Missense_Mutation_p.S253R|IL23R_uc010oqc.1_Missense_Mutation_p.S140R|IL23R_uc010oqd.1_Missense_Mutation_p.S59R|IL23R_uc010oqe.1_Missense_Mutation_p.S22R|IL23R_uc010oqf.1_Missense_Mutation_p.S22R|IL23R_uc010oqg.1_Missense_Mutation_p.S22R|IL23R_uc010oqh.1_Missense_Mutation_p.S65R|IL23R_uc001dds.2_Missense_Mutation_p.S169R|IL23R_uc001ddt.2_Missense_Mutation_p.S22R NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 424 Cytoplasmic (Potential). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 ATAATTCCAGTGAGCAGGTCC 0.343 NaN 0 0 0 0.021523 0 22 180 LRRC7 57554 broad.mit.edu 37 1 70504754 70504754 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:70504754G>A uc001dep.2 + 19 3163 c.3133G>A c.(3133-3135)GAA>AAA p.E1045K LRRC7_uc009wbg.2_Missense_Mutation_p.E329K|LRRC7_uc001deq.2_Missense_Mutation_p.E286K NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1045 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGTGAAAGCCGAAAAGAGGAT 0.438 NaN 0 0 0 0.010729 0 11 33 LRRIQ3 127255 broad.mit.edu 37 1 74507428 74507428 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:74507428T>A uc001dfy.3 - 7 1379 c.1187A>T c.(1186-1188)AAA>ATA p.K396I LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 396 ovary(2) 2 TCGTATGTCTTTTTTAATGAT 0.343 NaN 0 0 0 0.013537 0 12 71 FPGT 8790 broad.mit.edu 37 1 74670357 74670357 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:74670357A>G uc001dgb.1 + 4 663 c.626A>G c.(625-627)GAT>GGT p.D209G TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 209 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 TTTGTCTTAGATCCTTTTGAT 0.378 NaN 0 0 0 0.020292 0 13 111 LPHN2 23266 broad.mit.edu 37 1 82421724 82421724 + Nonsense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:82421724C>G uc001dit.3 + 10 2127 c.1946C>G c.(1945-1947)TCA>TGA p.S649* LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S649*|LPHN2_uc001div.2_Nonsense_Mutation_p.S649*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.S649*|LPHN2_uc001diw.2_Nonsense_Mutation_p.S233* NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 662 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.S649S(1) ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACAAGGGTCTCAATGCCCACA 0.353 NaN 0 0 0 0.007413 0 15 19 TTLL7 79739 broad.mit.edu 37 1 84335732 84335732 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:84335732C>G uc001djc.2 - 21 2973 c.2577G>C c.(2575-2577)TTG>TTC p.L859F TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_Intron NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 859 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TTGGTGTTCTCAAGAAGAATT 0.368 NaN 0 0 0 0.020292 0 15 12 LPAR3 23566 broad.mit.edu 37 1 85331077 85331077 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:85331077T>C uc001dkl.2 - 1 766 c.727A>G c.(727-729)ACT>GCT p.T243A LPAR3_uc009wcj.1_Missense_Mutation_p.T243A NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 243 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 CCTAAGACAGTCATCACCGTC 0.368 NaN 0 0 0 0.014758 0 4 18 HFM1 164045 broad.mit.edu 37 1 91784914 91784914 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:91784914T>C uc001doa.3 - 24 2716 c.2616A>G c.(2614-2616)ATA>ATG p.I872M HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I551M|HFM1_uc001dob.3_Missense_Mutation_p.I104M|HFM1_uc010osv.1_Missense_Mutation_p.I556M NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 872 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CAAAATCTTGTATGGGAATGC 0.353 NaN 0 0 0 0.010504 0 19 13 TGFBR3 7049 broad.mit.edu 37 1 92178024 92178024 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:92178024C>G uc001doh.2 - 13 2408 c.1942G>C c.(1942-1944)GAT>CAT p.D648H TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.D606H|TGFBR3_uc001doi.2_Missense_Mutation_p.D647H|TGFBR3_uc001doj.2_Missense_Mutation_p.D647H NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 648 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GACATCCTATCAGGGTTCGAA 0.393 NaN 0 0 0 0.013537 0 12 59 NTNG1 22854 broad.mit.edu 37 1 107867236 107867236 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:107867236G>A uc001dvh.3 + 3 1297 c.579G>A c.(577-579)GTG>GTA p.V193V NTNG1_uc001dvf.3_Silent_p.V193V|NTNG1_uc010out.1_Silent_p.V193V|NTNG1_uc001dvc.3_Silent_p.V193V|NTNG1_uc001dvd.1_Silent_p.V193V NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 193 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTAAATCCGTGAAGGATTTAT 0.398 NaN 0 0 0 0.001168 0 6 15 RBM15 64783 broad.mit.edu 37 1 110882179 110882179 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:110882179C>A uc001dzl.1 + 1 235 c.152C>A c.(151-153)TCG>TAG p.S51* RBM15_uc001dzm.1_Nonsense_Mutation_p.S51*|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 51 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AAAGAGCGCTCGCCAGTGAAG 0.647 NaN T MKL1 acute megakaryocytic leukemia 1 0 0.00185496 0.016723 0.00234132 13 54 SLC16A1 6566 broad.mit.edu 37 1 113460090 113460090 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:113460090C>A uc001ecx.2 - 4 1770 c.938G>T c.(937-939)CGA>CTA p.R313L SLC16A1_uc001ecy.2_Missense_Mutation_p.R313L|SLC16A1_uc001ecz.2_Missense_Mutation_p.R313L NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 313 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CATAGATGGTCGGGCTACCAT 0.433 NaN 1 0 3.59834e-05 0.001168 4.64808e-05 6 29 CD2 914 broad.mit.edu 37 1 117297379 117297379 + Nonsense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:117297379C>G uc001egu.3 + 2 217 c.188C>G c.(187-189)TCA>TGA p.S63* CD2_uc010owz.1_Nonsense_Mutation_p.S63*|CD2_uc010oxa.1_Nonsense_Mutation_p.S63* NM_001767 NP_001758 P06729 CD2_HUMAN CD2 molecule precursor 63 Extracellular (Potential).|LFA-3 (CD58) binding region 1.|Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity breast(1) 1 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) GAAAAAACTTCAGACAAGAAA 0.348 NaN 0 0 0 0.001984 0 7 66 ACP6 51205 broad.mit.edu 37 1 147126339 147126339 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:147126339G>T uc001epr.2 - 6 1214 c.750C>A c.(748-750)TTC>TTA p.F250L ACP6_uc009wjj.1_Missense_Mutation_p.F207L NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 250 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) CCAGGAGGATGAAGAAGTCCA 0.537 NaN 1 0 8.12818e-05 0.001984 0.000104505 7 128 RPRD2 23248 broad.mit.edu 37 1 150444194 150444194 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:150444194G>A uc009wlr.2 + 11 2971 c.2770G>A c.(2770-2772)GGG>AGG p.G924R RPRD2_uc010pcc.1_Missense_Mutation_p.G898R|RPRD2_uc001eup.3_Missense_Mutation_p.G898R NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 924 Ser-rich. protein binding ovary(1) 1 GAATGAACCTGGGTCTGACCG 0.502 NaN 0 0 0 0.01441 0 81 288 MCL1 4170 broad.mit.edu 37 1 150551725 150551725 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:150551725C>G uc001euz.2 - 1 412 c.282G>C c.(280-282)GCG>GCC p.A94A MCL1_uc010pch.1_5'UTR|MCL1_uc001eva.2_Silent_p.A94A NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 94 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AAAGCAGCCTCGCGGGGGTCG 0.751 NaN 0 0 0 0.00308 0 5 14 FCER1A 2205 broad.mit.edu 37 1 159273962 159273962 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:159273962A>C uc001ftq.2 + 4 420 c.321A>C c.(319-321)GAA>GAC p.E107D NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 107 Extracellular (Potential).|Ig-like 1. integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGTACCTGGAAGTCTTCAGTG 0.403 NaN 0 0 0 0.001984 0 6 87 MPZ 4359 broad.mit.edu 37 1 161276626 161276626 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:161276626C>T uc001gaf.3 - 3 387 c.350G>A c.(349-351)TGG>TAG p.W117* MPZ_uc010pko.1_RNA NM_000530 NP_000521 P25189 MYP0_HUMAN myelin protein zero 107 Ig-like V-type.|Extracellular (Potential). synaptic transmission integral to plasma membrane structural molecule activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCATCCTTCCAGCGAGGGTC 0.517 NaN 0 0 0 0.01441 0 54 478 C1orf9 51430 broad.mit.edu 37 1 172526519 172526519 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:172526519T>A uc001giq.3 + 5 859 c.543T>A c.(541-543)GCT>GCA p.A181A C1orf9_uc010pmm.1_Silent_p.A181A|C1orf9_uc009wwd.2_Silent_p.A144A|C1orf9_uc010pmn.1_Silent_p.A144A|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 181 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) ATGCTAGTGCTCCAATTGAAC 0.433 NaN 0 0 0 0.01441 0 169 75 DARS2 55157 broad.mit.edu 37 1 173810010 173810010 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:173810010G>C uc001gjh.1 + 11 1437 c.1027G>C c.(1027-1029)GAT>CAT p.D343H NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 343 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) CCAGATTATAGATATCAGTGA 0.323 NaN 0 0 0 0.016723 0 12 175 ASTN1 460 broad.mit.edu 37 1 176913088 176913088 + Silent SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:176913088G>T uc001glc.2 - 14 2528 c.2316C>A c.(2314-2316)CCC>CCA p.P772P ASTN1_uc001glb.1_Silent_p.P772P|ASTN1_uc001gld.1_Silent_p.P772P|ASTN1_uc009wwx.1_Silent_p.P772P NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 780 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GATTCTCCAGGGGCACAGTGG 0.512 NaN 1 0 3.45872e-05 0.004007 4.48172e-05 17 47 SOAT1 6646 broad.mit.edu 37 1 179310346 179310346 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:179310346C>T uc001gml.2 + 7 744 c.681C>T c.(679-681)TTC>TTT p.F227F SOAT1_uc010pni.1_Silent_p.F162F|SOAT1_uc001gmm.2_Silent_p.F169F|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Silent_p.F162F NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 227 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) GCTTTCTTTTCATGATCTTCC 0.433 NaN 0 0 0 0.01441 0 57 256 MR1 3140 broad.mit.edu 37 1 181018405 181018405 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:181018405C>G uc001goq.1 + 2 290 c.285C>G c.(283-285)TTC>TTG p.F95L MR1_uc001gop.2_Missense_Mutation_p.F95L|MR1_uc001gor.1_Missense_Mutation_p.F95L|MR1_uc001gos.1_Missense_Mutation_p.F95L|MR1_uc010pns.1_Missense_Mutation_p.F95L NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 95 Extracellular (Potential).|Ligand-binding.|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 AGCAGATGTTCAAGGTGGAAC 0.617 NaN 0 0 0 0.004482 0 8 44 NCF2 4688 broad.mit.edu 37 1 183532431 183532431 + Missense_Mutation SNP G G A rs145970396 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:183532431G>A uc001gqj.3 - 13 1464 c.1189C>T c.(1189-1191)CGG>TGG p.R397W NCF2_uc010pod.1_Missense_Mutation_p.R352W|NCF2_uc010poe.1_Missense_Mutation_p.R316W|NCF2_uc001gqk.3_Missense_Mutation_p.R397W NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 397 OPR. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 TTGCTGTCCCGAGGCCGATAG 0.522 NaN 0 0 0 0.010818 0 31 104 CAMSAP1L1 23271 broad.mit.edu 37 1 200824006 200824006 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:200824006G>C uc001gvl.2 + 15 4188 c.3918G>C c.(3916-3918)AAG>AAC p.K1306N CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.K1295N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.K1279N NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1306 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 ATTCAGGCAAGAGGACGCCAA 0.343 NaN 0 0 0 0.001168 0 6 21 ATP2B4 493 broad.mit.edu 37 1 203678495 203678495 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:203678495T>G uc001gzw.2 + 11 2508 c.1624T>G c.(1624-1626)TTT>GTT p.F542V ATP2B4_uc001gzv.2_Missense_Mutation_p.F542V|ATP2B4_uc009xaq.2_Missense_Mutation_p.F542V NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 542 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTGCTAGGCTTTGTCACAGA 0.512 NaN 0 0 0 0.013114 0 46 84 FCAMR 83953 broad.mit.edu 37 1 207135777 207135777 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:207135777G>A uc001hfa.3 - 5 933 c.433C>T c.(433-435)CTG>TTG p.L145L FCAMR_uc001hfb.2_Silent_p.L145L|FCAMR_uc009xca.1_Silent_p.L145L|FCAMR_uc001hfc.2_Silent_p.L120L NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 100 Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane receptor activity ovary(1) 1 GGGGGCCCCAGACGGCACCAG 0.577 NaN 0 0 0 0.004007 0 15 61 C4BPA 722 broad.mit.edu 37 1 207286412 207286412 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:207286412A>C uc001hfo.2 + 2 236 c.42A>C c.(40-42)AAA>AAC p.K14N NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 14 complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TTCATAGAAAAAGGAAAATGG 0.453 NaN 0 0 0 0.005443 0 27 29 CD34 947 broad.mit.edu 37 1 208072532 208072532 + Nonsense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:208072532G>C uc001hgw.1 - 3 560 c.302C>G c.(301-303)TCA>TGA p.S101* CD34_uc001hgx.1_Nonsense_Mutation_p.S101*|CD34_uc010psj.1_Intron NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 101 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 TCCATAAACTGAGGTTATCAC 0.448 NaN 0 0 0 0.007291 0 28 191 USH2A 7399 broad.mit.edu 37 1 216052273 216052273 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:216052273T>A uc001hku.1 - 42 8778 c.8391A>T c.(8389-8391)TCA>TCT p.S2797S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2797 Fibronectin type-III 14.|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) CATTACCCCCTGAGCAAGCAA 0.448 NaN HNSCC(13;0.011) 0 0 0 0.010729 0 10 53 TP53BP2 7159 broad.mit.edu 37 1 223976866 223976866 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:223976866G>A uc010pvb.1 - 16 3299 c.3007C>T c.(3007-3009)CAT>TAT p.H1003Y TP53BP2_uc001hod.2_Missense_Mutation_p.H874Y|TP53BP2_uc010puz.1_Missense_Mutation_p.H236Y|TP53BP2_uc010pva.1_Missense_Mutation_p.H642Y NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 997 ANK 2.|Mediates interaction with APC2. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GCAGCACAATGTAATGGAGTC 0.458 NaN 0 0 0 0.012319 0 19 88 SIPA1L2 57568 broad.mit.edu 37 1 232596869 232596869 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:232596869C>T uc001hvg.2 - 8 3017 c.2859G>A c.(2857-2859)CTG>CTA p.L953L SIPA1L2_uc001hvf.2_Silent_p.L27L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 953 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CGTTCCTCCTCAGGGTCATTT 0.562 NaN 0 0 0 0.01441 0 93 199 SLC35F3 148641 broad.mit.edu 37 1 234452365 234452365 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:234452365C>T uc001hwa.1 + 4 867 c.639C>T c.(637-639)CTC>CTT p.L213L SLC35F3_uc001hvy.1_Silent_p.L282L NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 213 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCGCCATCCTCGCCATCGCTG 0.577 NaN 0 0 0 0.01441 0 228 429 PLD5 200150 broad.mit.edu 37 1 242383316 242383316 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:242383316C>A uc001hzn.1 - 5 836 c.709G>T c.(709-711)GGT>TGT p.G237C PLD5_uc001hzl.3_Missense_Mutation_p.G175C|PLD5_uc001hzm.3_Missense_Mutation_p.G27C|PLD5_uc001hzo.1_Missense_Mutation_p.G145C Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 237 PLD phosphodiesterase 1. integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CAGTCCAAACCGGCACTGCCG 0.517 NaN 1 0 0.000602214 0.014758 0.000762437 5 43 ZNF124 7678 broad.mit.edu 37 1 247323035 247323035 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:247323035G>C uc001ick.2 - 2 250 c.111C>G c.(109-111)CTC>CTG p.L37L ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Silent_p.L37L NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CGTCTCTATAGAGATTCTTCT 0.418 NaN 0 0 0 0.013726 0 33 61 OR2AK2 391191 broad.mit.edu 37 1 248129260 248129260 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:248129260G>A uc010pzd.1 + 1 627 c.627G>A c.(625-627)CAG>CAA p.Q209Q OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 209 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACACCTCCCAGTATGAGTATA 0.443 NaN 0 0 0 0.004007 0 17 28 MAPK8 5599 broad.mit.edu 37 10 49633979 49633979 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:49633979C>G uc009xnz.2 + 8 961 c.737C>G c.(736-738)CCT>CGT p.P246R MAPK8_uc001jgl.2_Missense_Mutation_p.P246R|MAPK8_uc001jgm.2_Missense_Mutation_p.P246R|MAPK8_uc001jgo.2_Missense_Mutation_p.P246R|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.P246R|MAPK8_uc010qgk.1_Missense_Mutation_p.P246R|MAPK8_uc001jgp.2_Missense_Mutation_p.P246R|MAPK8_uc001jgq.2_Missense_Mutation_p.P246R NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 246 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) ACACCATGTCCTGAATTCATG 0.343 NaN 0 0 0 0.020292 0 13 18 CTNNA3 29119 broad.mit.edu 37 10 67829226 67829226 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:67829226C>T uc009xpn.1 - 15 2122 c.1999G>A c.(1999-2001)GAG>AAG p.E667K CTNNA3_uc001jmw.2_Missense_Mutation_p.E667K NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 667 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TTTTCTGCCTCAGGCAGTTGA 0.348 NaN 0 0 0 0.001984 0 6 34 HNRNPH3 3189 broad.mit.edu 37 10 70099239 70099239 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:70099239C>T uc001jnw.3 + 6 795 c.566C>T c.(565-567)TCA>TTA p.S189L HNRNPH3_uc001jnx.3_Missense_Mutation_p.S174L|HNRNPH3_uc009xpu.2_Missense_Mutation_p.S58L|HNRNPH3_uc010qiv.1_Missense_Mutation_p.S81L|HNRNPH3_uc001jny.3_Missense_Mutation_p.S140L NM_012207 NP_036339 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 189 Gly-rich. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 GATGCAAGTTCAGGTTTTCAT 0.378 NaN 0 0 0 0.006122 0 17 35 ADAMTS14 140766 broad.mit.edu 37 10 72520585 72520585 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:72520585C>T uc001jrh.2 + 22 3648 c.3648C>T c.(3646-3648)CTC>CTT p.L1216L ADAMTS14_uc001jrg.2_Silent_p.L1219L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1216 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GCACCAGCCTCCCTGCTGCCT 0.637 NaN 0 0 0 0.006122 0 18 23 CDH23 64072 broad.mit.edu 37 10 73567089 73567089 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:73567089C>T uc001jrx.3 + 56 8611 c.8234C>T c.(8233-8235)ACC>ATC p.T2745I CDH23_uc001jsg.3_Missense_Mutation_p.T505I|CDH23_uc001jsh.3_Missense_Mutation_p.T505I|CDH23_uc001jsi.3_Missense_Mutation_p.T505I NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2745 Cadherin 26.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCACGCGGCACCCTCGTGGGC 0.627 NaN 0 0 0 0.003163 0 16 17 KIF20B 9585 broad.mit.edu 37 10 91477195 91477195 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:91477195C>G uc001kgs.1 + 10 1139 c.1067C>G c.(1066-1068)ACT>AGT p.T356S KIF20B_uc001kgr.1_Missense_Mutation_p.T356S NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 356 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AGCATATTCACTGTTAAAATA 0.254 NaN 0 0 0 0.004672 0 2 4 ZNF518A 9849 broad.mit.edu 37 10 97919098 97919098 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:97919098G>C uc001klp.2 + 6 3876 c.3019G>C c.(3019-3021)GAG>CAG p.E1007Q ZNF518A_uc001klo.1_Missense_Mutation_p.E477Q|ZNF518A_uc001klq.2_Missense_Mutation_p.E1007Q|ZNF518A_uc001klr.2_Missense_Mutation_p.E1007Q NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1007 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TGTGACTAAGGAGCCTTGCAA 0.433 NaN 0 0 0 0.004672 0 3 23 LCOR 84458 broad.mit.edu 37 10 98715326 98715326 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:98715326G>C uc001kms.1 + 8 1470 c.949G>C c.(949-951)GAG>CAG p.E317Q LCOR_uc001kmr.2_Missense_Mutation_p.E317Q|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.E317Q|LCOR_uc001kmu.1_Missense_Mutation_p.E317Q NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 317 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) CTCAGATGCTGAGCAGTCTAC 0.483 NaN 0 0 0 0.004007 0 15 11 RRP12 23223 broad.mit.edu 37 10 99160977 99160977 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:99160977C>T uc001knf.2 - 1 151 c.12G>A c.(10-12)TCG>TCA p.S4S RRP12_uc010qou.1_Silent_p.S4S|RRP12_uc009xvn.2_Silent_p.S4S NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 4 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GCAACTTTCCCGAGCGACCCA 0.587 NaN 0 0 0 0.006122 0 16 44 PKD2L1 9033 broad.mit.edu 37 10 102057272 102057272 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:102057272G>A uc001kqx.1 - 5 1206 c.823C>T c.(823-825)CCA>TCA p.P275S PKD2L1_uc009xwm.1_Missense_Mutation_p.P228S NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 275 Extracellular (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) CGGGATCCTGGAAGGTCCAGG 0.617 NaN 0 0 0 0.007291 0 27 43 CPXM2 119587 broad.mit.edu 37 10 125506529 125506529 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr10:125506529G>T uc001lhk.1 - 14 2347 c.2022C>A c.(2020-2022)AAC>AAA p.N674K CPXM2_uc001lhj.2_Intron NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 674 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AATCCCCATCGTTGGCTGTGA 0.552 NaN 1 0 3.28513e-13 0.021523 4.48859e-13 24 208 IFITM3 10410 broad.mit.edu 37 11 319922 319922 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:319922C>T uc001lpa.2 - 2 419 c.318G>A c.(316-318)CTG>CTA p.L106L uc001loz.2_Intron NM_021034 NP_066362 Q01628 IFM3_HUMAN interferon-induced transmembrane protein 3 106 Cytoplasmic (Potential). response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane central_nervous_system(7) 7 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CCCAGATGTTCAGGCACTTGG 0.587 NaN 0 0 0 0.01441 0 48 48 OR51I2 390064 broad.mit.edu 37 11 5474803 5474803 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:5474803G>T uc010qzf.1 + 1 85 c.85G>T c.(85-87)GGG>TGG p.G29W HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGCTGTCAGGGCCCCTCTG 0.547 NaN 1 0 9.31168e-06 0.016723 1.21418e-05 12 31 NLRP10 338322 broad.mit.edu 37 11 7984932 7984932 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:7984932C>T uc001mfv.1 - 1 128 c.111G>A c.(109-111)CTG>CTA p.L37L NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 37 DAPIN. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCCCTCAGACAGGGTCATAT 0.542 NaN 0 0 0 0.016522 0 25 52 RIC3 79608 broad.mit.edu 37 11 8132430 8132430 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:8132430C>A uc001mgd.2 - 6 979 c.925G>T c.(925-927)GAA>TAA p.E309* RIC3_uc001mgb.2_Nonsense_Mutation_p.E147*|RIC3_uc001mgc.2_Nonsense_Mutation_p.E308*|RIC3_uc001mge.2_Nonsense_Mutation_p.E127*|RIC3_uc010rbl.1_Nonsense_Mutation_p.E259*|RIC3_uc010rbm.1_Nonsense_Mutation_p.E337*|RIC3_uc009yfm.2_Nonsense_Mutation_p.E228*|RIC3_uc009yfn.2_Nonsense_Mutation_p.E112* NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 309 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TCCTCGTCTTCATGAAAACAG 0.493 NaN 1 0 1.60099e-16 0.021022 2.21675e-16 36 78 MICALCL 84953 broad.mit.edu 37 11 12315578 12315578 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:12315578G>C uc001mkg.1 + 3 891 c.600G>C c.(598-600)GAG>GAC p.E200D NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 200 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) CCATCCCTGAGAGTGTGCACC 0.537 NaN 0 0 0 0.010818 0 31 85 DBX1 120237 broad.mit.edu 37 11 20178727 20178727 + Silent SNP C C T rs143300593 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:20178727C>T uc001mpw.1 - 3 528 c.528G>A c.(526-528)GGG>GGA p.G176G NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 176 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCGAGGCTTCCCGCGCGCGG 0.682 NaN 0 0 0 0.001168 0 6 10 QSER1 79832 broad.mit.edu 37 11 32955355 32955355 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:32955355A>G uc001mty.2 + 4 2431 c.2164A>G c.(2164-2166)AAT>GAT p.N722D QSER1_uc001mtz.1_Missense_Mutation_p.N483D|QSER1_uc001mua.2_Missense_Mutation_p.N227D NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 722 Gln-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) ATCTCTTCCTAATACACAGGT 0.413 NaN 0 0 0 0.00308 0 8 21 C11orf74 119710 broad.mit.edu 37 11 36654908 36654908 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:36654908C>T uc001mwy.1 + 3 284 c.211C>T c.(211-213)CAT>TAT p.H71Y C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 71 0 all_lung(20;0.226) all_hematologic(20;0.0118) AAAAGTTACTCATAAAAATGA 0.338 NaN 0 0 0 0.001168 0 5 24 ZNF408 79797 broad.mit.edu 37 11 46726955 46726955 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:46726955C>T uc001nde.1 + 5 1935 c.1705C>T c.(1705-1707)CAC>TAC p.H569Y ZNF408_uc010rgw.1_Missense_Mutation_p.H561Y NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 569 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 GCTCCGAGCTCACGAGCGCCT 0.657 NaN 0 0 0 0.001984 0 6 30 PSMC3 5702 broad.mit.edu 37 11 47444417 47444417 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:47444417C>G uc001nfh.2 - 7 893 c.699G>C c.(697-699)AAG>AAC p.K233N PSMC3_uc009ylr.1_Missense_Mutation_p.K191N NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 233 ATP (Potential). K->H: Loss of function. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCAGGAGGGTCTTCCCCGTCC 0.582 NaN 0 0 0 0.006214 0 8 198 NUP160 23279 broad.mit.edu 37 11 47819815 47819815 + Splice_Site SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:47819815C>A uc001ngm.2 - 25 3077 c.2992_splice c.e25-1 p.A998_splice NUP160_uc009ylw.2_Splice_Site NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 TTAGAGTAGCCTAAATATCAA 0.353 NaN 1 0 0.000157383 0.00308 0.000202036 8 40 OR5T1 390155 broad.mit.edu 37 11 56043764 56043764 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:56043764C>A uc001nio.1 + 1 650 c.650C>A c.(649-651)TCT>TAT p.S217Y NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TTTGTGGGCTCTATTGAGATA 0.408 NaN 1 0 1.96292e-10 0.010504 2.65572e-10 21 97 CLP1 10978 broad.mit.edu 37 11 57427259 57427259 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:57427259G>A uc001nkw.2 + 2 450 c.311G>A c.(310-312)CGG>CAG p.R104Q CLP1_uc010rjw.1_Missense_Mutation_p.R104Q|CLP1_uc009yml.2_Missense_Mutation_p.R104Q NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 104 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 GAACAGATGCGGAGGCAAGCG 0.547 NaN 0 0 0 0.021523 0 27 61 CTNND1 1500 broad.mit.edu 37 11 57569394 57569394 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:57569394C>G uc001nmc.3 + 7 1717 c.1146C>G c.(1144-1146)GTC>GTG p.V382V CTNND1_uc001nlh.1_Silent_p.V382V|CTNND1_uc001nlu.3_Silent_p.V281V|CTNND1_uc001nlt.3_Silent_p.V281V|CTNND1_uc001nls.3_Silent_p.V281V|CTNND1_uc001nlw.3_Silent_p.V281V|CTNND1_uc001nmf.3_Silent_p.V382V|CTNND1_uc001nmd.3_Silent_p.V328V|CTNND1_uc001nlk.3_Silent_p.V328V|CTNND1_uc001nme.3_Silent_p.V382V|CTNND1_uc001nll.3_Silent_p.V328V|CTNND1_uc001nmg.3_Silent_p.V328V|CTNND1_uc001nlj.3_Silent_p.V328V|CTNND1_uc001nlr.3_Silent_p.V328V|CTNND1_uc001nlp.3_Silent_p.V328V|CTNND1_uc001nlx.3_Silent_p.V59V|CTNND1_uc001nlz.3_Silent_p.V59V|CTNND1_uc009ymn.2_Silent_p.V59V|CTNND1_uc001nlm.3_Silent_p.V382V|CTNND1_uc001nly.3_Silent_p.V59V|CTNND1_uc001nmb.3_Silent_p.V59V|CTNND1_uc001nma.3_Silent_p.V59V|CTNND1_uc001nmi.3_Silent_p.V281V|CTNND1_uc001nmh.3_Silent_p.V382V|CTNND1_uc001nlq.3_Silent_p.V281V|CTNND1_uc001nln.3_Silent_p.V382V|CTNND1_uc001nli.3_Silent_p.V382V|CTNND1_uc001nlo.3_Silent_p.V281V|CTNND1_uc001nlv.3_Silent_p.V281V NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 382 ARM 1. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) TGGATGCTGTCAAGTCCAATG 0.552 NaN 0 0 0 0.004007 0 16 94 OR9Q1 219956 broad.mit.edu 37 11 57947582 57947582 + Missense_Mutation SNP C C G rs139135884 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:57947582C>G uc001nmj.2 + 3 982 c.666C>G c.(664-666)ATC>ATG p.I222M NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TGTTTATCATCGTGGCCATCA 0.512 NaN 0 0 0 0.008361 0 26 93 TMEM132A 54972 broad.mit.edu 37 11 60703933 60703933 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:60703933C>T uc001nqj.2 + 11 2819 c.2626C>T c.(2626-2628)CAG>TAG p.Q876* TMEM132A_uc001nqi.2_Nonsense_Mutation_p.Q877*|TMEM132A_uc001nqm.2_Nonsense_Mutation_p.Q86* NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 876 Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CCTGCGCTATCAGCGCAAAGA 0.607 NaN 0 0 0 0.01441 0 55 233 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Silent SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:61161357T>G uc010rlj.1 + 3 410 c.117T>G c.(115-117)GGT>GGG p.G39G TMEM216_uc001nrn.1_5'UTR NM_016499 NP_057583 Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane 0 TATTGGCAGGTGTCCTGCTAC 0.438 NaN 0 0 0 0.010818 0 17 67 DAGLA 747 broad.mit.edu 37 11 61511216 61511216 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:61511216G>A uc001nsa.2 + 20 2495 c.2384G>A c.(2383-2385)CGC>CAC p.R795H NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 795 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) TTCGACTCGCGCCGCTCCTCA 0.682 NaN 0 0 0 0.010818 0 33 126 MTA2 9219 broad.mit.edu 37 11 62364201 62364201 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:62364201C>T uc001ntq.1 - 9 1171 c.790G>A c.(790-792)GAG>AAG p.E264K MTA2_uc010rlx.1_Missense_Mutation_p.E91K NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 264 SANT. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCCTCCATCTCATCCCGACAC 0.537 NaN 0 0 0 0.01441 0 69 142 PYGM 5837 broad.mit.edu 37 11 64522956 64522956 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:64522956C>A uc001oax.3 - 6 1552 c.735G>T c.(733-735)TGG>TGT p.W245C PYGM_uc001oay.3_Missense_Mutation_p.W157C NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 245 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CCTTGGCAGACCAGAGGCGCA 0.622 NaN 1 0 9.31168e-06 0.016723 1.21418e-05 12 85 MAP4K2 5871 broad.mit.edu 37 11 64557220 64557220 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:64557220C>T uc001obh.2 - 31 2449 c.2357G>A c.(2356-2358)CGA>CAA p.R786Q MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R778Q NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 786 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 CCCAAGCACTCGGAAGATCCT 0.592 NaN 0 0 0 0.00632 0 25 123 C11orf2 738 broad.mit.edu 37 11 64875784 64875784 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:64875784G>C uc001ocr.1 + 5 881 c.841G>C c.(841-843)GAG>CAG p.E281Q C11orf2_uc001ocs.1_Missense_Mutation_p.E157Q NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 281 Potential. lipid transport|protein transport Golgi apparatus|integral to membrane 0 CGGCCGGCTGGAGAAGGAGCT 0.706 NaN 0 0 0 0.004482 0 8 45 CDC42EP2 10435 broad.mit.edu 37 11 65088417 65088417 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:65088417C>T uc001odl.2 + 2 498 c.48C>T c.(46-48)GGC>GGT p.G16G NM_006779 NP_006770 O14613 BORG1_HUMAN Cdc42 effector protein 2 16 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity 0 GTCGCAAGGGCAAGAAGGAGA 0.627 NaN 0 0 0 0.001168 0 6 58 PC 5091 broad.mit.edu 37 11 66619932 66619932 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:66619932G>C uc001ojn.1 - 13 1852 c.1803C>G c.(1801-1803)CTC>CTG p.L601L PC_uc001ojo.1_Silent_p.L601L|PC_uc001ojp.1_Silent_p.L601L|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 601 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CCATGCTGAAGAGCTTGCTGA 0.622 NaN 0 0 0 0.001984 0 7 139 CABP4 57010 broad.mit.edu 37 11 67223786 67223786 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:67223786C>T uc001olo.2 + 3 491 c.414C>T c.(412-414)TTC>TTT p.F138F CABP4_uc001oln.2_Silent_p.F33F NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 138 EF-hand 1. visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AGGCCGCCTTCGAGGAGTTTG 0.652 NaN 0 0 0 0.012213 0 29 163 NUMA1 4926 broad.mit.edu 37 11 71726086 71726086 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:71726086C>A uc001orl.1 - 15 2635 c.2463G>T c.(2461-2463)CAG>CAT p.Q821H NUMA1_uc009ysw.1_Missense_Mutation_p.Q384H|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.Q821H|NUMA1_uc001orn.2_Missense_Mutation_p.Q384H|NUMA1_uc009ysx.1_Missense_Mutation_p.Q821H|NUMA1_uc001oro.1_Missense_Mutation_p.Q821H NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 821 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CCTCCTCTTGCTGGCTATCCT 0.577 NaN T RARA APL 1 0 1.99505e-19 0.012213 2.7951e-19 33 255 FOLR2 2350 broad.mit.edu 37 11 71932735 71932735 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:71932735G>C uc009ytd.2 + 5 866 c.697G>C c.(697-699)GAG>CAG p.E233Q FOLR2_uc009yte.2_Missense_Mutation_p.E233Q|FOLR2_uc001ose.3_Missense_Mutation_p.E233Q|FOLR2_uc009ytf.2_Missense_Mutation_p.E233Q NM_001113534 NP_001107006 P14207 FOLR2_HUMAN folate receptor 2 precursor 233 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(2)|ovary(1) 3 Folic Acid(DB00158) GAATGCTGGTGAGATGCTTCA 0.587 NaN 0 0 0 0.013537 0 13 161 ARRB1 408 broad.mit.edu 37 11 74977287 74977287 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:74977287G>A uc001owe.1 - 16 1399 c.1177C>T c.(1177-1179)CGC>TGC p.R393C ARRB1_uc001owf.1_Missense_Mutation_p.R385C NM_004041 NP_004032 P49407 ARRB1_HUMAN arrestin beta 1 isoform A 393 Interaction with TRAF6.|[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. R->A: Abolishes interaction with AP2B1. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(2) 2 AGTCTCTGGCGAGCAAAGTCC 0.547 NaN 0 0 0 0.00632 0 28 152 FAT3 120114 broad.mit.edu 37 11 92533025 92533025 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:92533025C>A uc001pdj.3 + 9 6863 c.6846C>A c.(6844-6846)GAC>GAA p.D2282E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2282 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGTAAATGACAACCCCCCTA 0.423 NaN TCGA Ovarian(4;0.039) 1 0 0.00024832 0.009096 0.000317298 4 14 CASP5 838 broad.mit.edu 37 11 104877904 104877904 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:104877904C>T uc010rva.1 - 3 371 c.339G>A c.(337-339)CTG>CTA p.L113L CASP5_uc010ruz.1_Silent_p.L126L|CASP5_uc010rvb.1_Silent_p.L55L|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 113 CARD. apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CTACCAAGATCAGGGCCTTGT 0.368 NaN 0 0 0 0.013537 0 12 26 RDX 5962 broad.mit.edu 37 11 110128893 110128893 + Silent SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:110128893T>G uc001pku.2 - 6 799 c.489A>C c.(487-489)CTA>CTC p.L163L RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Silent_p.L163L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Silent_p.L131L|RDX_uc010rwe.1_Silent_p.L27L NM_002906 NP_002897 P35241 RADI_HUMAN radixin 163 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTTCTTTTGTTAGTTTGTGTT 0.294 NaN 0 0 0 0.008291 0 9 34 BUD13 84811 broad.mit.edu 37 11 116633707 116633707 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:116633707G>A uc001ppn.2 - 4 632 c.598C>T c.(598-600)CCT>TCT p.P200S BUD13_uc001ppo.2_Missense_Mutation_p.P200S|BUD13_uc009yzc.2_Missense_Mutation_p.P200S NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 200 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GGGGGAGAAGGATCTGGAGAA 0.567 NaN 0 0 0 0.005524 0 38 115 SIDT2 51092 broad.mit.edu 37 11 117052804 117052804 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:117052804A>T uc001pqh.1 + 4 540 c.499A>T c.(499-501)ACA>TCA p.T167S SIDT2_uc010rxe.1_Missense_Mutation_p.T167S|SIDT2_uc001pqg.2_Missense_Mutation_p.T167S|SIDT2_uc001pqi.1_Missense_Mutation_p.T167S NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 167 Extracellular (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CTTCAATACCACAGCAGCACA 0.597 NaN 0 0 0 0.00308 0 6 23 CCDC84 338657 broad.mit.edu 37 11 118881534 118881534 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:118881534C>T uc001pul.2 + 4 500 c.444C>T c.(442-444)ATC>ATT p.I148I CCDC84_uc010ryk.1_RNA|CCDC84_uc010ryl.1_RNA|CCDC84_uc010rym.1_RNA NM_198489 NP_940891 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 148 Potential. ovary(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) ATAAAGTGATCAAGGAGGTAA 0.234 NaN 0 0 0 0.00308 0 7 41 TECTA 7007 broad.mit.edu 37 11 121016422 121016422 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:121016422G>T uc010rzo.1 + 11 3702 c.3702G>T c.(3700-3702)CAG>CAT p.Q1234H NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1234 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGAGCATGCAGAACAGCACCT 0.527 NaN 1 0 1.15919e-05 0.008871 1.50913e-05 20 71 OR8B4 283162 broad.mit.edu 37 11 124294480 124294480 + Silent SNP A A G rs142136468 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:124294480A>G uc010sak.1 - 1 288 c.288T>C c.(286-288)TGT>TGC p.C96C NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCTGAGTCATACATCCCACAT 0.403 NaN 0 0 0 0.006214 0 10 37 OPCML 4978 broad.mit.edu 37 11 132812893 132812893 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr11:132812893C>A uc001qgs.2 - 1 145 c.95G>T c.(94-96)CGC>CTC p.R32L OPCML_uc001qgu.2_Missense_Mutation_p.R25L|OPCML_uc010sck.1_Missense_Mutation_p.R32L|OPCML_uc001qgt.2_Missense_Mutation_p.R32L|OPCML_uc010scl.1_5'UTR NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 32 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ATCTCCGCTGCGCACGGGCAC 0.647 NaN 1 0 1.3268e-25 0.01441 1.87154e-25 54 30 ERC1 23085 broad.mit.edu 37 12 1599298 1599298 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:1599298G>A uc001qjb.2 + 19 3494 c.3253G>A c.(3253-3255)GAA>AAA p.E1085K ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E1057K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_3'UTR|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 1085 Potential.|FIP-RBD. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GGACAATGCAGAACTGCAGGA 0.483 NaN 0 0 0 0.006999 0 38 78 PRMT8 56341 broad.mit.edu 37 12 3649850 3649850 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:3649850C>G uc001qmf.2 + 2 521 c.154C>G c.(154-156)CAA>GAA p.Q52E PRMT8_uc009zed.2_Missense_Mutation_p.Q43E|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 52 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) TGTGTCCACTCAACCCAGCTG 0.602 NaN 0 0 0 0.01441 0 54 339 C12orf4 57102 broad.mit.edu 37 12 4599751 4599751 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:4599751G>A uc001qms.2 - 13 1591 c.1503C>T c.(1501-1503)TTC>TTT p.F501F C12orf4_uc001qmt.2_Silent_p.F501F NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 501 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) TTTCCATCATGAAACCTAAAA 0.388 NaN 0 0 0 0.00308 0 7 24 VWF 7450 broad.mit.edu 37 12 6143929 6143929 + Silent SNP G G A rs141982646 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:6143929G>A uc001qnn.1 - 20 2860 c.2610C>T c.(2608-2610)ATC>ATT p.I870I VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 870 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGGCCATGCCGATCGTGGAGC 0.587 NaN 0 0 0 0.010504 0 19 74 IFFO1 25900 broad.mit.edu 37 12 6664602 6664602 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:6664602C>T uc001qpd.1 - 1 628 c.594G>A c.(592-594)TCG>TCA p.S198S IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.S198S|IFFO1_uc001qpf.1_Silent_p.S198S|IFFO1_uc001qpc.1_Silent_p.S198S NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 198 intermediate filament 0 CGTGCGAGAACGACCAGATGG 0.612 NaN 0 0 0 0.014758 0 5 34 ACRBP 84519 broad.mit.edu 37 12 6749264 6749264 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:6749264C>G uc001qpu.1 - 8 1435 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.E430Q NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 463 acrosomal vesicle|extracellular region central_nervous_system(1) 1 CTAAGGAACTCAGTCTGGAGC 0.562 NaN 0 0 0 0.020292 0 12 65 NANOG 79923 broad.mit.edu 37 12 7942264 7942264 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:7942264C>G uc009zfy.1 + 1 270 c.54C>G c.(52-54)GAC>GAG p.D18E NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 18 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) AAGCATCCGACTGTAAAGAAT 0.453 NaN 0 0 0 0.016522 0 22 112 A2ML1 144568 broad.mit.edu 37 12 8988223 8988223 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:8988223G>A uc001quz.3 + 6 702 c.604G>A c.(604-606)GAG>AAG p.E202K NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 46 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GGCAGTGGCTGAGGGCAAGAC 0.507 NaN 0 0 0 0.021523 0 23 74 MANSC1 54682 broad.mit.edu 37 12 12483751 12483751 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:12483751C>G uc001rai.1 - 4 764 c.506G>C c.(505-507)AGA>ACA p.R169T MANSC1_uc010shm.1_Missense_Mutation_p.R103T|MANSC1_uc001raj.1_Missense_Mutation_p.R135T|MANSC1_uc009zht.1_Missense_Mutation_p.R88T NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 169 Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) AAGTGTGTCTCTCCATGAGAT 0.448 NaN 0 0 0 0.00499 0 16 100 GSG1 83445 broad.mit.edu 37 12 13240941 13240941 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:13240941G>A uc001rbn.2 - 5 707 c.534C>T c.(532-534)TTC>TTT p.F178F GSG1_uc001rbj.2_Silent_p.F142F|GSG1_uc001rbk.2_Missense_Mutation_p.H184Y|GSG1_uc001rbl.2_Intron|GSG1_uc001rbm.2_Intron|GSG1_uc001rbo.2_Missense_Mutation_p.H220Y|GSG1_uc001rbp.2_Silent_p.F155F|GSG1_uc001rbq.1_Missense_Mutation_p.H220Y NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 165 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GGAAGCTGATGAATTGAAGTC 0.512 NaN 0 0 0 0.004656 0 22 141 GRIN2B 2904 broad.mit.edu 37 12 13768066 13768066 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:13768066A>T uc001rbt.2 - 7 1815 c.1636T>A c.(1636-1638)TCA>ACA p.S546T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 546 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCAGAAGGTGAGACAGTCCCA 0.498 NaN 0 0 0 0.015359 0 32 76 ERP27 121506 broad.mit.edu 37 12 15073907 15073907 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:15073907C>A uc001rco.2 - 4 430 c.409G>T c.(409-411)GAG>TAG p.E137* NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 137 Thioredoxin. endoplasmic reticulum lumen breast(1) 1 CTGTTGATCTCAATGAAACGG 0.438 NaN 1 0 0.000602214 0.014758 0.000762437 5 65 SOX5 6660 broad.mit.edu 37 12 23893833 23893833 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:23893833G>T uc001rfw.2 - 5 811 c.709C>A c.(709-711)CAA>AAA p.Q237K SOX5_uc001rfx.2_Missense_Mutation_p.Q224K|SOX5_uc001rfy.2_Missense_Mutation_p.Q224K|SOX5_uc010siv.1_Missense_Mutation_p.Q224K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.Q189K NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 237 Potential. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 AGCTCCATTTGCTGACGCTGT 0.498 NaN 1 0 0.00198382 0.001984 0.00250015 7 57 TM7SF3 51768 broad.mit.edu 37 12 27148173 27148173 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:27148173G>A uc010sjl.1 - 5 925 c.687C>T c.(685-687)CTC>CTT p.L229L NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 229 integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) GATTTACCTTGAGAGCACTGG 0.468 NaN 0 0 0 0.008871 0 20 110 C12orf35 55196 broad.mit.edu 37 12 32136973 32136973 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:32136973C>T uc001rks.2 + 4 3498 c.3084C>T c.(3082-3084)TCC>TCT p.S1028S NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1028 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TAGATGCATCCAGCAACTATA 0.433 NaN 0 0 0 0.009096 0 4 47 MLL2 8085 broad.mit.edu 37 12 49446362 49446362 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 C A C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:49446362C>A uc001rta.3 - 9 1243 c.1243G>T c.(1243-1245)GAA>TAA p.E415* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 415 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGTTTGGCTTCACATTGCAGG 0.547 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 0.00448238 0.004482 0.00562335 8 25 MLL2 8085 broad.mit.edu 37 12 49446375 49446375 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:49446375C>G uc001rta.3 - 9 1230 c.1230G>C c.(1228-1230)GGG>GGC p.G410G NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 410 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ATTGCAGGGGCCCTGGTTCCT 0.547 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.008291 0 10 25 ESPL1 9700 broad.mit.edu 37 12 53679861 53679861 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:53679861A>T uc001sck.2 + 18 3432 c.3341A>T c.(3340-3342)AAG>ATG p.K1114M ESPL1_uc001scj.2_Missense_Mutation_p.K789M|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1114 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 ACTGTGGCCAAGGAGCCTGGC 0.602 NaN 0 0 0 0.005524 0 39 139 TARBP2 6895 broad.mit.edu 37 12 53899548 53899548 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:53899548C>G uc001sdo.2 + 8 1345 c.857C>G c.(856-858)TCC>TGC p.S286C TARBP2_uc001sdp.2_Missense_Mutation_p.S265C|TARBP2_uc001sdq.2_Missense_Mutation_p.S142C|TARBP2_uc001sdr.2_Missense_Mutation_p.S142C|TARBP2_uc001sds.2_Silent_p.L243L|TARBP2_uc001sdt.2_Missense_Mutation_p.S265C|TARBP2_uc001sdu.2_Missense_Mutation_p.S142C|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 286 Sufficient for interaction with DICER1. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 TCCCTGGGCTCCCTGGGTGCC 0.597 NaN 0 0 0 0.019004 0 34 123 OR6C76 390326 broad.mit.edu 37 12 55820354 55820354 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:55820354C>T uc010spm.1 + 1 317 c.317C>T c.(316-318)TCA>TTA p.S106L NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCCTTGGCTCAACGGAGTTT 0.403 NaN 0 0 0 0.016723 0 14 47 DYRK2 8445 broad.mit.edu 37 12 68052281 68052281 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:68052281C>T uc001str.3 + 3 1996 c.1594C>T c.(1594-1596)CAC>TAC p.H532Y DYRK2_uc001sts.3_Missense_Mutation_p.H459Y NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 532 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GGCTTTGCGGCACCCCTGGCT 0.547 NaN 0 0 0 0.004007 0 16 447 ZFC3H1 196441 broad.mit.edu 37 12 72014016 72014016 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:72014016C>G uc001swo.2 - 25 5183 c.4824G>C c.(4822-4824)ATG>ATC p.M1608I NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1608 TPR 3. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GCAGAGCAATCATGTTTGTGT 0.403 NaN 0 0 0 0.021523 0 23 364 EEA1 8411 broad.mit.edu 37 12 93174109 93174109 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:93174109C>G uc001tck.2 - 24 3680 c.3415G>C c.(3415-3417)GAA>CAA p.E1139Q NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 1139 Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 TTAGTGATTTCTTTTTCTTGT 0.308 NaN 0 0 0 0.001168 0 5 20 STAB2 55576 broad.mit.edu 37 12 104096936 104096936 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:104096936A>G uc001tjw.2 + 35 3911 c.3725A>G c.(3724-3726)AAT>AGT p.N1242S NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1242 Extracellular (Potential).|FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTCTATGTAAATGAGGCTCCA 0.373 NaN 0 0 0 0.008871 0 20 48 C12orf45 121053 broad.mit.edu 37 12 105388290 105388290 + Nonsense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:105388290C>G uc001tlb.2 + 4 407 c.374C>G c.(373-375)TCA>TGA p.S125* NM_152318 NP_689531 Q8N5I9 CL045_HUMAN hypothetical protein LOC121053 125 0 CAGTCGGATTCAAAAGAAGTG 0.294 NaN 0 0 0 0.012319 0 22 30 ANKRD13A 88455 broad.mit.edu 37 12 110456242 110456242 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:110456242G>C uc001tpx.2 + 5 752 c.493G>C c.(493-495)GAA>CAA p.E165Q ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.E165Q|ANKRD13A_uc010sxw.1_Missense_Mutation_p.E165Q NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 165 0 GCTGGGATTTGAAAACATGAG 0.443 NaN 0 0 0 0.013537 0 11 69 RPH3A 22895 broad.mit.edu 37 12 113314469 113314469 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:113314469G>A uc010syl.1 + 13 1331 c.969G>A c.(967-969)GGG>GGA p.G323G RPH3A_uc001ttz.2_Silent_p.G323G|RPH3A_uc001tty.2_Silent_p.G319G|RPH3A_uc009zwe.1_Silent_p.G319G|RPH3A_uc010sym.1_Silent_p.G274G|RPH3A_uc001tua.2_Silent_p.G83G NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 323 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCGACCCTGGGACCACTGCCC 0.527 NaN 0 0 0 0.00308 0 7 17 DDX54 79039 broad.mit.edu 37 12 113600964 113600964 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:113600964C>T uc001tup.2 - 16 2082 c.2054G>A c.(2053-2055)CGG>CAG p.R685Q DDX54_uc001tuq.3_Missense_Mutation_p.R685Q NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 685 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 GTCCTTGGGCCGGTAGGGGAT 0.662 NaN 0 0 0 0.009718 0 42 20 RPLP0 6175 broad.mit.edu 37 12 120635157 120635157 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:120635157C>G uc001txp.2 - 7 997 c.760G>C c.(760-762)GAG>CAG p.E254Q GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Missense_Mutation_p.E254Q|RPLP0_uc001txr.2_Missense_Mutation_p.E192Q NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 254 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAATCCGTCTCCACAGACAAG 0.507 NaN 0 0 0 0.014323 0 21 105 HPD 3242 broad.mit.edu 37 12 122286936 122286936 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:122286936G>T uc001ubj.2 - 9 605 c.565C>A c.(565-567)CCT>ACT p.P189T HPD_uc001ubk.2_Missense_Mutation_p.P150T NM_002150 NP_002141 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 189 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TCCTGATCAGGCTGGTTTCCC 0.602 NaN 1 0 2.68362e-12 0.013537 3.66069e-12 12 89 HIP1R 9026 broad.mit.edu 37 12 123343743 123343743 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:123343743A>T uc001udj.1 + 22 2353 c.2294A>T c.(2293-2295)CAG>CTG p.Q765L HIP1R_uc001udk.1_Missense_Mutation_p.Q30L NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 765 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CAGCTGGGCCAGGTGAGGCAC 0.652 NaN 0 0 0 0.014758 0 4 6 PITPNM2 57605 broad.mit.edu 37 12 123494488 123494488 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:123494488G>A uc001uej.1 - 5 691 c.552C>T c.(550-552)GTC>GTT p.V184V PITPNM2_uc001uek.1_Silent_p.V184V|PITPNM2_uc009zxu.1_Silent_p.V184V NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 184 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGATGGGGAAGACCTGCTTCT 0.562 NaN 0 0 0 0.01441 0 55 190 CHFR 55743 broad.mit.edu 37 12 133428240 133428241 + Missense_Mutation DNP CC CC GT TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr12:133428240_133428241CC>GT uc001ulf.2 - 12 1575_1576 c.1491_1492GG>AC c.(1489-1494)GCGGAG>GCACAG p.E498Q CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.E486Q|CHFR_uc010tbs.1_Missense_Mutation_p.E497Q|CHFR_uc001uld.2_Missense_Mutation_p.E457Q|CHFR_uc010tbt.1_Missense_Mutation_p.E406Q NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 498 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TGCTCGCGCTCCGCTCTCCGGT 0.644 NaN 0 0 0 0.004672 0 38 181 SACS 26278 broad.mit.edu 37 13 23907016 23907016 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:23907016G>A uc001uon.2 - 10 11588 c.10999C>T c.(10999-11001)CAT>TAT p.H3667Y SACS_uc001uoo.2_Missense_Mutation_p.H3520Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3667 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TATTGAGGATGAAATCTAATG 0.383 NaN 0 0 0 0.001168 0 6 27 SACS 26278 broad.mit.edu 37 13 23914840 23914840 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:23914840C>G uc001uon.2 - 10 3764 c.3175G>C c.(3175-3177)GAA>CAA p.E1059Q SACS_uc001uoo.2_Missense_Mutation_p.E912Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1059 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTAGTACTTCTATATCAGGG 0.383 NaN 0 0 0 0.016522 0 25 102 FAM123A 219287 broad.mit.edu 37 13 25744587 25744587 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:25744587C>G uc001uqb.2 - 1 1271 c.1171G>C c.(1171-1173)GAG>CAG p.E391Q FAM123A_uc001uqa.2_Missense_Mutation_p.E272Q|FAM123A_uc001uqc.2_Missense_Mutation_p.E272Q NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 391 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGACCTGCCTCTTCCTCTTGG 0.532 NaN 0 0 0 0.012319 0 21 103 GPR12 2835 broad.mit.edu 37 13 27333290 27333290 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:27333290C>A uc010aal.2 - 2 897 c.675G>T c.(673-675)ATG>ATT p.M225I GPR12_uc010tdl.1_Missense_Mutation_p.M66I NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 225 Cytoplasmic (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GGGCGTGCCTCATCACAATCT 0.567 NaN 1 0 1.06647e-15 0.017118 1.47173e-15 37 36 NBEA 26960 broad.mit.edu 37 13 35926317 35926317 + Silent SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:35926317T>C uc001uvb.2 + 38 6242 c.6036T>C c.(6034-6036)GCT>GCC p.A2012A NBEA_uc010abi.2_Silent_p.A668A NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2012 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AATATGCTGCTGATAGAAGAG 0.328 NaN 0 0 0 0.014758 0 5 5 DCLK1 9201 broad.mit.edu 37 13 36428670 36428670 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:36428670G>A uc001uvf.2 - 6 1234 c.1001C>T c.(1000-1002)TCA>TTA p.S334L DCLK1_uc001uve.3_Missense_Mutation_p.S27L|DCLK1_uc010teh.1_Missense_Mutation_p.S27L|DCLK1_uc010abk.2_Missense_Mutation_p.S27L|DCLK1_uc001uvh.3_RNA NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 334 Pro/Ser-rich. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GCTGGTGGGTGATGGGCTTGG 0.527 NaN 0 0 0 0.017118 0 33 75 SPERT 220082 broad.mit.edu 37 13 46287727 46287727 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:46287727C>G uc001van.1 + 3 647 c.567C>G c.(565-567)CTC>CTG p.L189L SPERT_uc001vao.2_Silent_p.L153L NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 189 Potential. cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) ACCGGATGCTCAGCAAGGAGA 0.617 NaN 0 0 0 0.020292 0 13 74 FNDC3A 22862 broad.mit.edu 37 13 49710722 49710722 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:49710722G>A uc001vcm.2 + 6 1050 c.745G>A c.(745-747)GAT>AAT p.D249N FNDC3A_uc001vcl.1_Missense_Mutation_p.D249N|FNDC3A_uc001vcn.2_Missense_Mutation_p.D249N|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.D193N|FNDC3A_uc001vcq.2_Missense_Mutation_p.D193N NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 249 Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TACACAAGTTGATACAGAAAT 0.353 NaN 0 0 0 0.001168 0 6 51 RNASEH2B 79621 broad.mit.edu 37 13 51528086 51528086 + Missense_Mutation SNP A A G rs150363383 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:51528086A>G uc001vfa.3 + 10 1108 c.787A>G c.(787-789)ACT>GCT p.T263A RNASEH2B_uc001vfb.3_Intron NM_024570 NP_078846 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B isoform 1 263 RNA catabolic process nucleus|ribonuclease H2 complex 0 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) AGAAGATTACACTAAGTTTAA 0.368 NaN 0 0 0 0.016723 0 12 8 LECT1 11061 broad.mit.edu 37 13 53286974 53286974 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:53286974C>G uc001vhf.2 - 5 610 c.499G>C c.(499-501)GAA>CAA p.E167Q LECT1_uc001vhg.2_Missense_Mutation_p.E167Q|LECT1_uc001vhh.2_Missense_Mutation_p.E156Q NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 167 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) AGAGAATTTTCTTCATATTTG 0.403 NaN 0 0 0 0.01892 0 23 51 C13orf34 79866 broad.mit.edu 37 13 73321010 73321010 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:73321010G>C uc001viv.1 + 10 1362 c.1243G>C c.(1243-1245)GAG>CAG p.E415Q C13orf34_uc010thq.1_Missense_Mutation_p.E190Q|C13orf34_uc010aen.1_Missense_Mutation_p.E490Q|C13orf34_uc010thr.1_Missense_Mutation_p.E345Q|C13orf34_uc001viw.1_Missense_Mutation_p.E364Q NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 415 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) CAGTGCTTCTGAGAAAGAATT 0.423 NaN 0 0 0 0.010729 0 12 36 DIS3 22894 broad.mit.edu 37 13 73334745 73334745 + Silent SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:73334745A>G uc001vix.3 - 20 3089 c.2715T>C c.(2713-2715)GAT>GAC p.D905D DIS3_uc001viy.3_Silent_p.D875D|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 905 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CTTTAACTTTATCAAATACAT 0.328 NaN Multiple Myeloma(4;0.011) 0 0 0 0.004482 0 9 36 TBC1D4 9882 broad.mit.edu 37 13 75900527 75900527 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:75900527T>A uc001vjl.1 - 10 2186 c.1839A>T c.(1837-1839)ACA>ACT p.T613T TBC1D4_uc010aer.2_Silent_p.T613T|TBC1D4_uc010aes.2_Silent_p.T613T NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 613 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ACGCTGGCGGTGTCCCTGGTG 0.587 NaN 0 0 0 0.006214 0 8 64 STK24 8428 broad.mit.edu 37 13 99114063 99114063 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:99114063C>G uc001vnm.1 - 8 1289 c.1054G>C c.(1054-1056)GGA>CGA p.G352R STK24_uc001vnn.1_Missense_Mutation_p.G340R|STK24_uc010tim.1_Missense_Mutation_p.G321R NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 352 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGAAGAGCTCCATTCTCGAGA 0.512 NaN 0 0 0 0.01441 0 42 208 MYO16 23026 broad.mit.edu 37 13 109562401 109562401 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:109562401C>G uc001vqt.1 + 16 1888 c.1762C>G c.(1762-1764)CTT>GTT p.L588V MYO16_uc010agk.1_Missense_Mutation_p.L610V|MYO16_uc001vqu.1_Missense_Mutation_p.L388V|MYO16_uc010tjh.1_Missense_Mutation_p.L100V NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 588 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTCACAACCTCTTGGCCAGAG 0.358 NaN 0 0 0 0.004007 0 17 80 TUBGCP3 10426 broad.mit.edu 37 13 113208461 113208461 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr13:113208461G>C uc001vse.1 - 8 1063 c.876C>G c.(874-876)GTC>GTG p.V292V TUBGCP3_uc010tjq.1_Silent_p.V282V|TUBGCP3_uc001vsf.2_Silent_p.V292V|TUBGCP3_uc001vsg.1_Silent_p.V292V NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 292 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CAGAAAGCCTGACTGCTGTGT 0.403 NaN 0 0 0 0.004007 0 16 75 NEDD8 4738 broad.mit.edu 37 14 24687356 24687356 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:24687356G>A uc001wnn.2 - 3 235 c.132C>T c.(130-132)ATC>ATT p.I44I CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA NM_006156 NP_006147 Q15843 NEDD8_HUMAN neural precursor cell expressed, developmentally 44 Interaction with UBE1C. anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process nucleus ubiquitin protein ligase binding 0 GBM - Glioblastoma multiforme(265;0.0186) TGCCACTGTAGATGAGCCTCT 0.512 NaN 0 0 0 0.01441 0 47 83 CTSG 1511 broad.mit.edu 37 14 25045381 25045381 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:25045381C>A uc001wpq.2 - 1 86 c.49G>T c.(49-51)GAG>TAG p.E17* NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 17 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TCACCTGCCTCAGCCCCAGTG 0.438 NaN 1 0 0.00116845 0.001168 0.00147706 5 10 C14orf106 55320 broad.mit.edu 37 14 45679581 45679581 + Splice_Site SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:45679581A>C uc001wwf.2 - 14 3611 c.3152_splice c.e14+1 p.R1051_splice NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 ATGAATATTTACCTATTTATA 0.378 NaN 0 0 0 0.008291 0 9 27 CDKL1 8814 broad.mit.edu 37 14 50845115 50845115 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:50845115G>C uc010anu.1 - 9 1134 c.1134C>G c.(1132-1134)TTC>TTG p.F378L CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) cagccgtcttgaaggggctgg 0 NaN 0 0 0 0.006214 0 10 31 PTGER2 5732 broad.mit.edu 37 14 52781368 52781368 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:52781368C>T uc001wzr.2 + 1 353 c.102C>T c.(100-102)GCC>GCT p.A34A NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 34 Helical; Name=1; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TGTTCTCGGCCGGGGTGCTGG 0.682 NaN 0 0 0 0.010504 0 20 19 RTN1 6252 broad.mit.edu 37 14 60193667 60193667 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:60193667G>C uc001xen.1 - 3 1944 c.1735C>G c.(1735-1737)CCC>GCC p.P579A RTN1_uc001xem.1_Missense_Mutation_p.P159A NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 579 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) AGCAGTGGGGGCGGGGCGCCA 0.582 NaN 0 0 0 0.001984 0 6 22 PPM1A 5494 broad.mit.edu 37 14 60749714 60749714 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:60749714A>G uc010apn.2 + 3 695 c.293A>G c.(292-294)AAG>AGG p.K98R PPM1A_uc001xew.3_Missense_Mutation_p.K171R|PPM1A_uc001xex.3_Missense_Mutation_p.K98R|PPM1A_uc001xey.3_Missense_Mutation_p.K98R NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 98 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) GAAAATGTAAAGAATGGAATC 0.418 NaN 0 0 0 0.004656 0 27 68 SYNE2 23224 broad.mit.edu 37 14 64497985 64497985 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:64497985C>G uc001xgm.2 + 45 7361 c.7131C>G c.(7129-7131)GGC>GGG p.G2377G SYNE2_uc001xgl.2_Silent_p.G2377G NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2377 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCTGCCAGGCAGAGAGAAGC 0.453 NaN 0 0 0 0.021523 0 25 76 PTPN21 11099 broad.mit.edu 37 14 88936060 88936060 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:88936060C>A uc001xwv.3 - 17 3349 c.3018G>T c.(3016-3018)AAG>AAT p.K1006N PTPN21_uc010twc.1_Missense_Mutation_p.K802N NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 1006 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 ACCTAAAGCTCTTCTCCCTTC 0.502 NaN 1 0 9.70103e-10 0.008291 1.30609e-09 9 20 EML5 161436 broad.mit.edu 37 14 89109329 89109329 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:89109329C>G uc001xxg.2 - 31 4331 c.4145G>C c.(4144-4146)AGA>ACA p.R1382T EML5_uc001xxf.2_Missense_Mutation_p.R169T|EML5_uc001xxh.1_Missense_Mutation_p.R513T NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1374 cytoplasm|microtubule ovary(3) 3 CCTACAGTCTCTGCCTCGATA 0.338 NaN 0 0 0 0.00499 0 16 45 BTBD7 55727 broad.mit.edu 37 14 93717986 93717986 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:93717986C>T uc001ybo.2 - 8 2091 c.1765G>A c.(1765-1767)GAG>AAG p.E589K BTBD7_uc010aur.2_Missense_Mutation_p.E114K|BTBD7_uc010two.1_Missense_Mutation_p.E409K|BTBD7_uc001ybp.2_Missense_Mutation_p.E238K NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 589 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACCATCATCTCATCTAGCACT 0.403 NaN 0 0 0 0.01441 0 49 37 DYNC1H1 1778 broad.mit.edu 37 14 102510695 102510695 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr14:102510695G>C uc001yks.2 + 71 12933 c.12769G>C c.(12769-12771)GAC>CAC p.D4257H NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4257 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CGGGCGCGTGGACAACGAGTT 0.557 NaN 0 0 0 0.013537 0 10 18 EIF2AK4 440275 broad.mit.edu 37 15 40301819 40301819 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:40301819G>C uc001zkm.1 + 26 3631 c.3581G>C c.(3580-3582)AGA>ACA p.R1194T EIF2AK4_uc010bbj.1_Missense_Mutation_p.R895T|EIF2AK4_uc001zkn.1_Missense_Mutation_p.R294T|EIF2AK4_uc001zko.1_Missense_Mutation_p.R132T|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1194 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TCCCAGGAAAGAAATTACAGT 0.333 NaN 0 0 0 0.004482 0 9 28 ITPKA 3706 broad.mit.edu 37 15 41794660 41794660 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:41794660C>T uc001znz.2 + 5 1080 c.1069C>T c.(1069-1071)CGC>TGC p.R357C NM_002220 NP_002211 P23677 IP3KA_HUMAN 1D-myo-inositol-trisphosphate 3-kinase A 357 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GCAGGTGCTTCGCGTCTTTGA 0.622 NaN 0 0 0 0.017118 0 33 67 SLC24A5 283652 broad.mit.edu 37 15 48434351 48434351 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:48434351A>G uc001zwe.2 + 9 1379 c.1306A>G c.(1306-1308)AGA>GGA p.R436G SLC24A5_uc010bel.2_Missense_Mutation_p.R376G|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Missense_Mutation_p.R67G NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 436 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) AGTAAACAGCAGAGGACTAAC 0.363 NaN 0 0 0 0.003163 0 16 37 USP8 9101 broad.mit.edu 37 15 50784944 50784944 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:50784944C>G uc001zym.3 + 16 2781 c.2281C>G c.(2281-2283)CAG>GAG p.Q761E USP8_uc001zyl.3_Missense_Mutation_p.Q761E|USP8_uc001zyn.3_Missense_Mutation_p.Q761E|USP8_uc010ufh.1_Missense_Mutation_p.Q655E|uc001zyo.1_RNA|USP8_uc001zyp.3_5'Flank NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 761 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TTCTGCTTCTCAGATTCGGAA 0.388 NaN 0 0 0 0.012319 0 19 65 WDR72 256764 broad.mit.edu 37 15 54008834 54008834 + Silent SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:54008834A>T uc002acj.2 - 4 351 c.309T>A c.(307-309)GCT>GCA p.A103A WDR72_uc010bfi.1_Silent_p.A103A NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 103 lung(1)|skin(1) 2 all cancers(107;0.0511) AAGGAAGTGTAGCCTTCTCCA 0.428 NaN 0 0 0 0.008291 0 9 25 GCOM1 145781 broad.mit.edu 37 15 57921940 57921940 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:57921940A>T uc002aei.2 + 6 685 c.566A>T c.(565-567)AAG>ATG p.K189M GCOM1_uc002aej.2_Missense_Mutation_p.K189M|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.K189M|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.K189M|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN GRINL1A upstream protein isoform 7 189 Potential. intracellular signal transduction extrinsic to internal side of plasma membrane|I band ovary(1) 1 AGCAACATTAAGGATCAAATC 0.458 NaN 0 0 0 0.016723 0 13 34 VPS13C 54832 broad.mit.edu 37 15 62219320 62219320 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:62219320G>C uc002agz.2 - 52 6560 c.6486C>G c.(6484-6486)CTC>CTG p.L2162L VPS13C_uc002aha.2_Silent_p.L2119L|VPS13C_uc002ahb.1_Silent_p.L2162L|VPS13C_uc002ahc.1_Silent_p.L2119L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2162 protein localization ovary(2) 2 TCTTTTCTCTGAGAAAAGGGC 0.393 NaN 0 0 0 0.017118 0 34 71 MPI 4351 broad.mit.edu 37 15 75183880 75183880 + Missense_Mutation SNP C C T rs104894494 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:75183880C>T uc002azc.1 + 3 310 c.305C>T c.(304-306)TCA>TTA p.S102L MPI_uc010ulv.1_Missense_Mutation_p.S102L|MPI_uc010ulw.1_Missense_Mutation_p.S52L|MPI_uc002azd.1_Missense_Mutation_p.S102L|MPI_uc010ulx.1_Missense_Mutation_p.S52L|MPI_uc002aze.1_Missense_Mutation_p.S102L NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 102 S -> L (in CDG1B). dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 AAAGTGCTCTCAGTTGAAACA 0.532 NaN 0 0 0 0.01441 0 44 107 WFIKKN1 117166 broad.mit.edu 37 16 683267 683267 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:683267C>T uc002cht.1 + 2 1099 c.857C>T c.(856-858)GCC>GTC p.A286V WFIKKN1_uc002chs.1_3'UTR NM_053284 NP_444514 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz 286 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity 0 Hepatocellular(780;0.00335) CGAGAGCCGGCCAGGGACGCA 0.716 NaN 0 0 0 0.009096 0 4 10 NUBP2 10101 broad.mit.edu 37 16 1836612 1836612 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:1836612A>G uc002cmw.3 + 2 180 c.91A>G c.(91-93)ATC>GTC p.I31V NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_5'UTR NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 (MinD homolog, E. 31 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding 0 GAAAAGCACCATCTCCACGGA 0.662 NaN 0 0 0 0.016723 0 13 85 TSC2 7249 broad.mit.edu 37 16 2110796 2110796 + Silent SNP G G A rs45517149 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:2110796G>A uc002con.2 + 11 1207 c.1101G>A c.(1099-1101)CGG>CGA p.R367R TSC2_uc010bsd.2_Silent_p.R367R|TSC2_uc002coo.2_Silent_p.R367R|TSC2_uc010uvv.1_Silent_p.R330R|TSC2_uc010uvw.1_Silent_p.R318R|TSC2_uc002cop.2_Silent_p.R167R NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 367 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) TCATCGAACGGCTCCTTCAGC 0.602 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 0.014323 0 24 35 PRSS21 10942 broad.mit.edu 37 16 2868796 2868796 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:2868796C>T uc002crt.2 + 4 482 c.376C>T c.(376-378)CTG>TTG p.L126L PRSS21_uc002crs.2_Silent_p.L124L|PRSS21_uc002crr.2_Silent_p.L126L NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN testisin isoform 1 126 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity ovary(1)|skin(1) 2 GAATATCTATCTGAGCCCTCG 0.537 NaN 0 0 0 0.005443 0 26 116 BTBD12 84464 broad.mit.edu 37 16 3641148 3641148 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:3641148C>A uc002cvp.2 - 12 3118 c.2491G>T c.(2491-2493)GAG>TAG p.E831* NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 831 Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 AACAAAGTCTCCGCTTCCTCC 0.453 NaN Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 1 0 2.94884e-30 0.01441 4.17374e-30 69 101 VASN 114990 broad.mit.edu 37 16 4431070 4431070 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:4431070C>T uc002cwj.1 + 2 347 c.192C>T c.(190-192)ATC>ATT p.I64I CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron NM_138440 NP_612449 Q6EMK4 VASN_HUMAN slit-like 2 precursor 64 Extracellular (Potential).|LRR 1. extracellular region|integral to membrane 0 AGAACGGCATCACCATGCTCG 0.672 NaN 0 0 0 0.00308 0 7 13 NAGPA 51172 broad.mit.edu 37 16 5075523 5075523 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:5075523C>T uc002cyg.2 - 10 1525 c.1504G>A c.(1504-1506)GAG>AAG p.E502K NAGPA_uc010buc.2_Missense_Mutation_p.E199K|NAGPA_uc002cyf.2_Missense_Mutation_p.E220K|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_3'UTR NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 502 Cytoplasmic (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) TGCTCCTTCTCTGCGGCCAGA 0.647 NaN 0 0 0 0.01441 0 58 238 C16orf75 116028 broad.mit.edu 37 16 11444614 11444614 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:11444614G>A uc002daw.1 + 2 429 c.411G>A c.(409-411)CTG>CTA p.L137L C16orf75_uc002daq.1_RNA NM_152308 NP_689521 Q96E14 RMI2_HUMAN RecQ-mediated genome instability protein 2 137 DNA replication nucleus DNA binding 0 TGTGGGAACTGGAGGTAGAAG 0.438 NaN T CIITA PMBL|Hodgkin Lymphona| 0 0 0 0.010504 0 19 108 ITPRIPL2 162073 broad.mit.edu 37 16 19126901 19126901 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:19126901T>A uc002dfu.3 + 1 1648 c.1118T>A c.(1117-1119)CTC>CAC p.L373H ITPRIPL2_uc002dft.2_Missense_Mutation_p.L69H NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 373 Cytoplasmic (Potential). integral to membrane skin(2) 2 GCCTGCTACCTCAAGTGCCTG 0.647 NaN 0 0 0 0.013726 0 34 146 DNAH3 55567 broad.mit.edu 37 16 21073952 21073952 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:21073952C>T uc010vbe.1 - 25 3571 c.3571G>A c.(3571-3573)GAC>AAC p.D1191N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1191 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CGGAGAGGGTCCTTTGTCTCG 0.448 NaN 0 0 0 0.004007 0 17 47 JMJD5 79831 broad.mit.edu 37 16 27221612 27221612 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:27221612C>T uc002doh.2 + 2 350 c.168C>T c.(166-168)TTC>TTT p.F56F JMJD5_uc010bxv.2_Silent_p.F56F|JMJD5_uc010vcn.1_Silent_p.F94F|JMJD5_uc010bxw.2_Silent_p.F56F NM_024773 NP_079049 Q8N371 KDM8_HUMAN jumonji domain containing 5 isoform 2 56 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(2)|upper_aerodigestive_tract(1) 3 CTGAGCTCTTCTACGAGGGCA 0.587 NaN 0 0 0 0.013537 0 12 55 SRCAP 10847 broad.mit.edu 37 16 30750254 30750254 + Missense_Mutation SNP C C T rs141497857 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:30750254C>T uc002dze.1 + 34 9278 c.8893C>T c.(8893-8895)CGG>TGG p.R2965W SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2760W NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2965 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CTCCGAAAGTCGGACACAGCC 0.572 NaN 0 0 0 0.014323 0 22 111 RNF40 9810 broad.mit.edu 37 16 30780185 30780185 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:30780185G>A uc002dzq.2 + 15 2247 c.2124G>A c.(2122-2124)CGG>CGA p.R708R RNF40_uc010caa.2_Silent_p.R708R|RNF40_uc010cab.2_Silent_p.R608R|RNF40_uc010vfa.1_Silent_p.R40R|RNF40_uc002dzr.2_Silent_p.R708R|RNF40_uc010vfb.1_Silent_p.R400R|RNF40_uc010vfc.1_Silent_p.R40R NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 708 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GCCGCATCCGGGAATTGGAGG 0.562 NaN 0 0 0 0.01441 0 58 147 C16orf78 123970 broad.mit.edu 37 16 49433094 49433094 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:49433094G>A uc002efr.2 + 5 746 c.703G>A c.(703-705)GAT>AAT p.D235N NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 235 central_nervous_system(1) 1 GTTGTGCAAGGATGCAGGAAT 0.478 NaN 0 0 0 0.016522 0 23 101 GNAO1 2775 broad.mit.edu 37 16 56362664 56362664 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:56362664A>G uc002eit.3 + 4 1322 c.425A>G c.(424-426)AAC>AGC p.N142S GNAO1_uc002eiu.3_Missense_Mutation_p.N142S NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 142 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) GAGTGCTTCAACCGGTCCCGG 0.602 NaN 0 0 0 0.005443 0 27 74 AMFR 267 broad.mit.edu 37 16 56423172 56423172 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:56423172C>T uc002eiy.2 - 9 1406 c.1201G>A c.(1201-1203)GAG>AAG p.E401K AMFR_uc002eix.2_Intron NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor 401 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2) 2 ACCAAATTCTCATCCAAGTTC 0.448 NaN 0 0 0 0.00499 0 16 113 GPR97 222487 broad.mit.edu 37 16 57712121 57712121 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:57712121G>C uc002emh.2 + 4 488 c.385G>C c.(385-387)GAC>CAC p.D129H GPR97_uc010cdc.2_Missense_Mutation_p.D129H|GPR97_uc010vhv.1_Missense_Mutation_p.D9H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 129 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 CAAGCCCCCTGACAGAGTGCG 0.587 NaN 0 0 0 0.00632 0 26 153 CNGB1 1258 broad.mit.edu 37 16 57935315 57935315 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:57935315C>T uc002emt.2 - 29 2982 c.2917G>A c.(2917-2919)GAC>AAC p.D973N CNGB1_uc010cdh.2_Missense_Mutation_p.D967N NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 973 Helical; Name=H6; (Potential).|cAMP (By similarity). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 TTCAGCATGTCAAAGATCATC 0.572 NaN 0 0 0 0.01441 0 67 197 GFOD2 81577 broad.mit.edu 37 16 67709852 67709852 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:67709852T>A uc002eub.2 - 3 659 c.364A>T c.(364-366)AAC>TAC p.N122Y GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.N17Y NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 122 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) CGCAGCACGTTCCCTACCAGG 0.572 NaN 0 0 0 0.013537 0 11 86 RANBP10 57610 broad.mit.edu 37 16 67768937 67768937 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:67768937G>C uc002eud.2 - 6 716 c.600C>G c.(598-600)CTC>CTG p.L200L RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.L144L|RANBP10_uc010vjv.1_Silent_p.L83L|RANBP10_uc010vjx.1_Silent_p.L200L|RANBP10_uc010vjy.1_Silent_p.L68L NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 200 B30.2/SPRY. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CGGTGGGGTAGAGGTTGGCCT 0.592 NaN 0 0 0 0.013537 0 12 81 CDH1 999 broad.mit.edu 37 16 68835746 68835746 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:68835746A>G uc002ewg.1 + 3 461 c.337A>G c.(337-339)AAA>GAA p.K113E CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.K113E NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 113 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GTTTTCCACCAAAGTCACGCT 0.502 NaN Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 0 0 0 0.007413 0 14 96 ZNF23 7571 broad.mit.edu 37 16 71482035 71482035 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:71482035G>C uc002faf.2 - 6 2707 c.1893C>G c.(1891-1893)CTC>CTG p.L631L ZNF23_uc002fad.2_Silent_p.L573L|ZNF23_uc002fae.2_Silent_p.L573L|ZNF23_uc010vmf.1_Silent_p.L573L|ZNF23_uc002fag.2_Silent_p.L573L|ZNF23_uc002fah.2_Silent_p.L631L|ZNF23_uc002fai.2_Silent_p.L670L NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 631 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) GATGCTGACTGAGCTGGAAGC 0.383 NaN 0 0 0 0.006214 0 10 102 ZFPM1 161882 broad.mit.edu 37 16 88598530 88598530 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:88598530C>T uc002fkv.2 + 7 866 c.833C>T c.(832-834)ACA>ATA p.T278I NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 278 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) GCAGCCGCCACAGACGAGAAG 0.687 NaN 0 0 0 0.01441 0 34 50 FANCA 2175 broad.mit.edu 37 16 89813043 89813043 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr16:89813043G>A uc002fou.1 - 35 3504 c.3462C>T c.(3460-3462)TTC>TTT p.F1154F FANCA_uc010vpn.1_Silent_p.F1154F|FANCA_uc010vpo.1_Silent_p.F240F NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1154 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TGGCCAGTATGAAGTCGACCA 0.562 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.015359 0 30 92 SLC25A11 8402 broad.mit.edu 37 17 4841336 4841336 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:4841336C>T uc002fzo.1 - 7 884 c.771G>A c.(769-771)CCG>CCA p.P257P SLC25A11_uc002fzp.1_Silent_p.P253P|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 257 Solcar 3. gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 TCTTGTATTCCGGCTTCCCAT 0.627 NaN 0 0 0 0.021022 0 34 140 ZNF232 7775 broad.mit.edu 37 17 5009199 5009199 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:5009199C>G uc002gas.2 - 5 1928 c.1174G>C c.(1174-1176)GAA>CAA p.E392Q ZNF232_uc002gar.1_Missense_Mutation_p.E410Q|ZNF232_uc002gat.2_Missense_Mutation_p.E419Q NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 392 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TTCCCACATTCTTTACATATA 0.443 NaN 0 0 0 0.01441 0 86 49 C1QBP 708 broad.mit.edu 37 17 5336678 5336678 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:5336678G>C uc002gby.1 - 5 712 c.634C>G c.(634-636)CAG>GAG p.Q212E NM_001212 NP_001203 Q07021 C1QBP_HUMAN complement component 1, q subcomponent binding 212 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane ovary(1) 1 CCAGTGGACTGAAAGCTAACT 0.468 NaN 0 0 0 0.01441 0 48 132 ACAP1 9744 broad.mit.edu 37 17 7250491 7250491 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:7250491G>A uc002ggd.2 + 14 1479 c.1273G>A c.(1273-1275)GAG>AAG p.E425K NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 425 Arf-GAP.|C4-type.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 CGACTGCCGGGAGCCAGCCCC 0.657 NaN 0 0 0 0.01892 0 20 60 MYH13 8735 broad.mit.edu 37 17 10216043 10216043 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:10216043C>A uc002gmk.1 - 31 4303 c.4213G>T c.(4213-4215)GAG>TAG p.E1405* NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1405 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GTGTTCTCCTCTGCTTCCTGG 0.517 NaN 1 0 5.4927e-09 0.004482 7.35916e-09 7 22 MYH13 8735 broad.mit.edu 37 17 10243492 10243492 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:10243492C>G uc002gmk.1 - 18 2121 c.2031G>C c.(2029-2031)CTG>CTC p.L677L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 677 Myosin head-like.|Actin-binding (By similarity). muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CATTGGGAATCAGACATCGTA 0.428 NaN 0 0 0 0.010504 0 18 4 MYH8 4626 broad.mit.edu 37 17 10309620 10309620 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:10309620G>A uc002gmm.2 - 20 2361 c.2266C>T c.(2266-2268)CAT>TAT p.H756Y uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 756 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TATTGAGTATGATCAATATCA 0.378 NaN Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 0 0 0 0.006214 0 10 15 MYH1 4619 broad.mit.edu 37 17 10395785 10395785 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:10395785T>G uc002gmo.2 - 40 5862 c.5768A>C c.(5767-5769)AAG>ACG p.K1923T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1923 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CACCCTCAGCTTGTTGACCTG 0.478 NaN 0 0 0 0.009535 0 29 72 ATPAF2 91647 broad.mit.edu 37 17 17924527 17924527 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:17924527G>C uc002gse.1 - 7 795 c.642C>G c.(640-642)CTC>CTG p.L214L ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly 214 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding 0 all_neural(463;0.228) CCATGGACTTGAGCTGGGCAG 0.592 NaN 0 0 0 0.013537 0 10 42 MYO15A 51168 broad.mit.edu 37 17 18042859 18042859 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:18042859C>T uc010vxh.1 + 18 5483 c.5145C>T c.(5143-5145)TTC>TTT p.F1715F NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1715 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGCACAAGTTCCTGGACAAGA 0.592 NaN 0 0 0 0.01441 0 47 25 SLC47A2 146802 broad.mit.edu 37 17 19608794 19608794 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:19608794G>C uc002gwe.3 - 10 1147 c.972C>G c.(970-972)CTC>CTG p.L324L SLC47A2_uc002gwg.3_Silent_p.L288L|SLC47A2_uc002gwf.3_Silent_p.L288L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 324 Extracellular (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CCTGGGCAGAGAGATCCACCA 0.647 NaN 0 0 0 0.014758 0 5 23 ALDH3A1 218 broad.mit.edu 37 17 19646659 19646659 + Nonsense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:19646659G>A uc010cqu.2 - 2 610 c.280C>T c.(280-282)CAG>TAG p.Q94* ALDH3A1_uc010vzd.1_Nonsense_Mutation_p.Q94*|ALDH3A1_uc002gwj.2_Nonsense_Mutation_p.Q94*|ALDH3A1_uc010cqv.2_Nonsense_Mutation_p.Q94*|ALDH3A1_uc002gwk.2_Silent_p.L10L|ALDH3A1_uc002gwl.1_Nonsense_Mutation_p.Q21* NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 94 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TCGTCCTGCTGAGTCTGGGGC 0.602 NaN 0 0 0 0.021523 0 26 161 SSH2 85464 broad.mit.edu 37 17 27998974 27998974 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:27998974G>C uc002heo.1 - 8 707 c.707C>G c.(706-708)TCT>TGT p.S236C SSH2_uc010wbh.1_Missense_Mutation_p.S263C|SSH2_uc002hep.1_Missense_Mutation_p.S236C NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 236 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 GAGAGCTGGAGAGTCGGGCCG 0.448 NaN 0 0 0 0.00499 0 8 201 SSH2 85464 broad.mit.edu 37 17 27998987 27998987 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:27998987G>T uc002heo.1 - 8 694 c.694C>A c.(694-696)CAC>AAC p.H232N SSH2_uc010wbh.1_Missense_Mutation_p.H259N|SSH2_uc002hep.1_Missense_Mutation_p.H232N NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 232 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TCGGGCCGGTGGGACTGTACA 0.448 NaN 1 0 1.87028e-06 0.012319 2.46985e-06 11 205 SSH2 85464 broad.mit.edu 37 17 27999021 27999021 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:27999021G>A uc002heo.1 - 8 660 c.660C>T c.(658-660)GTC>GTT p.V220V SSH2_uc010wbh.1_Silent_p.V247V|SSH2_uc002hep.1_Silent_p.V220V NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 220 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TCCATTCATTGACTGAGGATT 0.468 NaN 0 0 0 0.013537 0 10 187 SSH2 85464 broad.mit.edu 37 17 27999025 27999025 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:27999025G>A uc002heo.1 - 8 656 c.656C>T c.(655-657)TCA>TTA p.S219L SSH2_uc010wbh.1_Missense_Mutation_p.S246L|SSH2_uc002hep.1_Missense_Mutation_p.S219L NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 219 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TTCATTGACTGAGGATTGATC 0.468 NaN 0 0 0 0.013537 0 10 194 CDK5R1 8851 broad.mit.edu 37 17 30814982 30814982 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:30814982C>A uc002hhn.2 + 2 565 c.344C>A c.(343-345)TCG>TAG p.S115* CDK5R1_uc010wca.1_Nonsense_Mutation_p.S115*|CDK5R1_uc010ctc.2_5'UTR NM_003885 NP_003876 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 115 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) AGCCAGCTCTCGGGTTCCCAG 0.672 NaN 1 0 4.75426e-39 0.01441 6.74062e-39 76 164 TMEM132E 124842 broad.mit.edu 37 17 32954018 32954018 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:32954018T>G uc002hif.2 + 3 998 c.670T>G c.(670-672)TAT>GAT p.Y224D NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 224 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CATCCTCCTCTATCTGGCCCC 0.632 NaN 0 0 0 0.014323 0 20 134 DHRS11 79154 broad.mit.edu 37 17 34951498 34951498 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:34951498C>T uc002hnd.2 + 2 459 c.245C>T c.(244-246)TCA>TTA p.S82L NM_024308 NP_077284 Q6UWP2 DHR11_HUMAN short-chain dehydrogenase/reductase precursor 82 extracellular region binding|oxidoreductase activity 0 TCCATGTTCTCAGCTATCCGT 0.542 NaN 0 0 0 0.01441 0 96 118 ORMDL3 94103 broad.mit.edu 37 17 38080454 38080454 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:38080454C>T uc002htj.1 - 2 143 c.3G>A c.(1-3)ATG>ATA p.M1I ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.M1I NM_139280 NP_644809 Q8N138 ORML3_HUMAN ORM1-like 3 1 Cytoplasmic (Potential). ceramide metabolic process integral to membrane|SPOTS complex protein binding 0 Colorectal(19;0.000442) Lung(15;0.0234) TGCCCACATTCATCCTGCTGC 0.617 NaN 0 0 0 0.004007 0 15 119 PSMD3 5709 broad.mit.edu 37 17 38151529 38151529 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:38151529G>A uc002htn.1 + 8 1361 c.1197G>A c.(1195-1197)CGG>CGA p.R399R PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.R300R NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 399 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) TCCGGCTGCGGCACAACGTGA 0.537 NaN 0 0 0 0.011902 0 42 259 KRT12 3859 broad.mit.edu 37 17 39019991 39019991 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:39019991C>T uc002hvk.2 - 4 957 c.933G>A c.(931-933)CAG>CAA p.Q311Q NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 311 Rod.|Coil 2. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CCTTCCGATTCTGCTCAGCGA 0.547 NaN 0 0 0 0.01441 0 63 33 KRT38 8687 broad.mit.edu 37 17 39594846 39594846 + Missense_Mutation SNP T T G rs143250758 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:39594846T>G uc002hwq.1 - 5 1340 c.917A>C c.(916-918)GAC>GCC p.D306A NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 306 Coil 2.|Rod. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GCAGGACATGTCCTGCAGGCT 0.632 NaN 0 0 0 0.014323 0 20 136 KRT36 8689 broad.mit.edu 37 17 39645947 39645947 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:39645947G>C uc002hwt.2 - 1 170 c.170C>G c.(169-171)TCT>TGT p.S57C NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 57 Head. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) CCCAAGGCCAGAGAGGCCCGA 0.637 NaN 0 0 0 0.01441 0 104 53 UBTF 7343 broad.mit.edu 37 17 42290269 42290269 + Nonsense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:42290269G>T uc002igb.2 - 6 645 c.578C>A c.(577-579)TCG>TAG p.S193* UBTF_uc002igc.2_Nonsense_Mutation_p.S193*|UBTF_uc010czs.2_Nonsense_Mutation_p.S193*|UBTF_uc002igd.2_Nonsense_Mutation_p.S193*|UBTF_uc010czt.2_Nonsense_Mutation_p.S193*|UBTF_uc002ige.2_Nonsense_Mutation_p.S193* NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 193 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TGGGATGTCCGATTTCTTGGC 0.587 NaN 1 0 1.3612e-06 0.003163 1.80044e-06 13 346 NMT1 4836 broad.mit.edu 37 17 43138785 43138785 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:43138785T>C uc002ihz.2 + 1 106 c.88T>C c.(88-90)TGC>CGC p.C30R DCAKD_uc010dab.1_5'Flank|NMT1_uc010dac.1_RNA|NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 30 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) CCATGAGCACTGCAGCGATTG 0.602 NaN 0 0 0 0.01441 0 58 16 TMEM100 55273 broad.mit.edu 37 17 53798395 53798395 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:53798395G>A uc002iuj.3 - 2 348 c.37C>T c.(37-39)CCA>TCA p.P13S TMEM100_uc002iuk.3_Missense_Mutation_p.P13S NM_018286 NP_060756 Q9NV29 TM100_HUMAN transmembrane protein 100 13 integral to membrane 0 TGAGCCTTTGGGGCTCCCAGG 0.507 NaN 0 0 0 0.004656 0 25 159 DDX42 11325 broad.mit.edu 37 17 61895172 61895172 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:61895172C>T uc002jbu.2 + 19 2488 c.2231C>T c.(2230-2232)TCA>TTA p.S744L DDX42_uc002jbv.2_Missense_Mutation_p.S744L|DDX42_uc002jbx.2_Missense_Mutation_p.S480L|DDX42_uc002jby.2_Missense_Mutation_p.S290L|DDX42_uc010wps.1_Missense_Mutation_p.S112L NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 744 Necessary for interaction with TP53BP2. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 CCAACTAACTCAGCACAACAG 0.542 NaN 0 0 0 0.01441 0 86 43 GGA3 23163 broad.mit.edu 37 17 73242646 73242646 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:73242646G>T uc002jni.1 - 3 154 c.145C>A c.(145-147)CTG>ATG p.L49M GGA3_uc002jnj.1_Missense_Mutation_p.L49M|GGA3_uc010wrw.1_Translation_Start_Site|GGA3_uc002jnk.1_Translation_Start_Site|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Translation_Start_Site|GGA3_uc010wrz.1_Missense_Mutation_p.L49M NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 49 VHS.|Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) TGGGCCAGCAGTCGGACGGCG 0.637 NaN 1 0 6.94344e-10 0.006122 9.36347e-10 15 77 APCDD1 147495 broad.mit.edu 37 18 10487667 10487667 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr18:10487667G>A uc002kom.3 + 5 1531 c.1177G>A c.(1177-1179)GAG>AAG p.E393K NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 393 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) GTGCGGGGCCGAGGGCTCCTG 0.582 NaN 0 0 0 0.013726 0 32 84 MYO5B 4645 broad.mit.edu 37 18 47369614 47369614 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr18:47369614C>T uc002leb.2 - 34 4896 c.4608G>A c.(4606-4608)CTG>CTA p.L1536L MYO5B_uc002ldz.2_Silent_p.L106L|MYO5B_uc002lea.2_Silent_p.L651L NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1536 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TGCTTACTTTCAGGACTTTCT 0.527 NaN 0 0 0 0.006214 0 9 30 CDH7 1005 broad.mit.edu 37 18 63526247 63526247 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr18:63526247G>A uc002ljz.2 + 9 1784 c.1459G>A c.(1459-1461)GAG>AAG p.E487K CDH7_uc002lka.2_Missense_Mutation_p.E487K|CDH7_uc002lkb.2_Missense_Mutation_p.E487K NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 487 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CATGGACTATGAGACCACCGT 0.428 NaN 0 0 0 0.014758 0 5 31 ZNF407 55628 broad.mit.edu 37 18 72343704 72343704 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr18:72343704C>G uc002llw.2 + 1 786 c.729C>G c.(727-729)GTC>GTG p.V243V ZNF407_uc010xfc.1_Silent_p.V243V|ZNF407_uc010dqu.1_Silent_p.V243V|ZNF407_uc002llu.2_Silent_p.V242V NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CACAGAAGGTCTTTTCCTGTG 0.453 NaN 0 0 0 0.004656 0 27 93 MED16 10025 broad.mit.edu 37 19 875330 875330 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:875330G>A uc002lqd.1 - 10 1836 c.1685C>T c.(1684-1686)TCG>TTG p.S562L MED16_uc010drw.1_Missense_Mutation_p.S387L|MED16_uc002lqe.2_Missense_Mutation_p.S551L|MED16_uc002lqf.2_Missense_Mutation_p.S551L|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.S482L|MED16_uc010xfx.1_Missense_Mutation_p.S407L|MED16_uc010xfy.1_Missense_Mutation_p.S139L|MED16_uc010xfz.1_5'Flank NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 562 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCAGCAGCGACTTCAGGGT 0.627 NaN 0 0 0 0.021523 0 23 56 CIRBP 1153 broad.mit.edu 37 19 1271019 1271019 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:1271019C>T uc002lrr.3 + 2 236 c.87C>T c.(85-87)TAC>TAT p.Y29Y C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.T12M|CIRBP_uc002lrt.2_Silent_p.Y29Y|CIRBP_uc010xgl.1_Silent_p.Y29Y|CIRBP_uc002lrv.3_Silent_p.Y29Y|CIRBP_uc002lru.2_RNA NM_001280 NP_001271 Q14011 CIRBP_HUMAN cold inducible RNA binding protein 29 RRM. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCAAAGTACGGACAGATCT 0.418 NaN 0 0 0 0.00874 0 41 159 SPPL2B 56928 broad.mit.edu 37 19 2339822 2339822 + Splice_Site SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:2339822G>A uc002lvs.2 + 6 680 c.600_splice c.e6-1 p.K200_splice SPPL2B_uc010dsw.1_Splice_Site_p.K172_splice|SPPL2B_uc010dsy.1_Splice_Site_p.K172_splice|SPPL2B_uc010dsz.1_Splice_Site_p.K200_splice|SPPL2B_uc002lvr.2_Splice_Site_p.K200_splice|SPPL2B_uc010dta.1_Intron|SPPL2B_uc002lvu.2_Silent_p.K5K NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTCTCCCAAGAAGGTACATG 0.677 NaN 0 0 0 0.001168 0 4 11 CELF5 60680 broad.mit.edu 37 19 3251037 3251037 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:3251037C>T uc002lxm.2 + 2 351 c.314C>T c.(313-315)GCC>GTC p.A105V CELF5_uc002lxl.1_Missense_Mutation_p.A105V|CELF5_uc010dtj.1_Missense_Mutation_p.A105V|CELF5_uc010xhg.1_5'UTR NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 105 RRM 1. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 GCTCAGACTGCCCTGCACGAG 0.597 NaN 0 0 0 0.012319 0 23 80 ADAMTS10 81794 broad.mit.edu 37 19 8670587 8670587 + Silent SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:8670587G>T uc002mkj.1 - 3 283 c.9C>A c.(7-9)CCC>CCA p.P3P ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 3 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 TCTGGCAGGCGGGAGCCATAG 0.682 NaN 1 0 0.000308642 0.003163 0.000392558 11 22 MUC16 94025 broad.mit.edu 37 19 9063595 9063595 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:9063595T>A uc002mkp.2 - 3 24055 c.23851A>T c.(23851-23853)AGG>TGG p.R7951W NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7953 Ser-rich.|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 GGACCCCTCCTCATAAGAGTG 0.463 NaN 0 0 0 0.00499 0 17 55 RAVER1 125950 broad.mit.edu 37 19 10444084 10444084 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:10444084C>T uc002moa.2 - 1 231 c.151G>A c.(151-153)GAA>AAA p.E51K NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 34 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGCAGCTCTTCTTCCGGCGCC 0.672 NaN 0 0 0 0.009535 0 26 146 SLC44A2 57153 broad.mit.edu 37 19 10745710 10745710 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:10745710G>A uc002mpf.2 + 12 1155 c.1016G>A c.(1015-1017)AGA>AAA p.R339K SLC44A2_uc002mpe.3_Missense_Mutation_p.R337K|SLC44A2_uc002mpg.1_Missense_Mutation_p.R59K|SLC44A2_uc002mph.2_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 339 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CTCCGGAAGAGAATTCTCATC 0.547 NaN 0 0 0 0.01441 0 64 234 RAB3D 9545 broad.mit.edu 37 19 11446394 11446394 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:11446394G>C uc002mqy.2 - 3 532 c.294C>G c.(292-294)TTC>TTG p.F98L NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 98 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 ACATGAGCAGGAAGCCCATGG 0.587 NaN 0 0 0 0.009718 0 36 155 IL27RA 9466 broad.mit.edu 37 19 14150615 14150615 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:14150615G>A uc002mxx.2 + 4 850 c.427G>A c.(427-429)GAC>AAC p.D143N NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 143 Extracellular (Potential).|Fibronectin type-III 1. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 TTCCGAGGATGACCCCCTGGA 0.607 NaN 0 0 0 0.01441 0 91 45 ASF1B 55723 broad.mit.edu 37 19 14231399 14231399 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:14231399C>A uc002mye.2 - 4 653 c.481G>T c.(481-483)GAG>TAG p.E161* PRKACA_uc002myc.2_5'Flank NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B 161 cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus 0 TCTATGGCCTCCAGCCTGTCC 0.632 NaN 1 0 0.000422831 0.004007 0.00053697 15 39 TECR 9524 broad.mit.edu 37 19 14675655 14675655 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:14675655C>G uc002mza.2 + 8 674 c.547C>G c.(547-549)CTC>GTC p.L183V TECR_uc002mzb.2_Missense_Mutation_p.L198V|TECR_uc010xns.1_Missense_Mutation_p.L28V|TECR_uc002mzc.2_Missense_Mutation_p.L28V|TECR_uc002mzd.2_Missense_Mutation_p.L183V|TECR_uc002mze.2_Missense_Mutation_p.L9V|TECR_uc002mzf.1_5'Flank NM_138501 NP_612510 Q9NZ01 TECR_HUMAN glycoprotein, synaptic 2 183 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity 0 CAATCACCCTCTCTACACTCC 0.632 NaN 0 0 0 0.010504 0 20 127 OCEL1 79629 broad.mit.edu 37 19 17337908 17337908 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:17337908G>A uc002nfp.2 + 3 354 c.352G>A c.(352-354)GAT>AAT p.D118N NM_024578 NP_078854 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 118 central_nervous_system(1) 1 TGTGTTTGAGGATGAGTTGCT 0.642 NaN 0 0 0 0.001984 0 6 171 PLVAP 83483 broad.mit.edu 37 19 17476638 17476638 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:17476638C>G uc002ngk.1 - 3 686 c.636G>C c.(634-636)CAG>CAC p.Q212H NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 212 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CCTTGGCCAGCTGGCGCTCTT 0.562 NaN 0 0 0 0.004656 0 24 92 UNC13A 23025 broad.mit.edu 37 19 17735691 17735691 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:17735691C>T uc002nhd.2 - 35 4408 c.4408G>A c.(4408-4410)GTT>ATT p.V1470I NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1382 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GTGTTCATAACCAGCTTCCAC 0.597 NaN 0 0 0 0.006214 0 9 44 UNC13A 23025 broad.mit.edu 37 19 17737462 17737462 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:17737462G>A uc002nhd.2 - 34 4317 c.4317C>T c.(4315-4317)ATC>ATT p.I1439I NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1351 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GCAGGTCCATGATGGGCTGCA 0.647 NaN 0 0 0 0.004672 0 3 6 ZNF536 9745 broad.mit.edu 37 19 31040280 31040280 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:31040280G>A uc002nsu.1 + 4 3892 c.3754G>A c.(3754-3756)GAG>AAG p.E1252K ZNF536_uc010edd.1_Missense_Mutation_p.E1252K NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCCAAAGCCGGAGCGGGGGCC 0.612 NaN 0 0 0 0.008871 0 19 49 CCDC123 84902 broad.mit.edu 37 19 33444536 33444536 + Silent SNP C C T rs140563444 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:33444536C>T uc002nty.2 - 4 566 c.477G>A c.(475-477)GTG>GTA p.V159V CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.V159V|CCDC123_uc002nua.2_Silent_p.V159V|CCDC123_uc002nub.1_Silent_p.V51V NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 159 centrosome|spindle pole 0 Esophageal squamous(110;0.137) TTCTGTGTGGCACAGCGTACA 0.468 NaN 0 0 0 0.007413 0 17 741 CHST8 64377 broad.mit.edu 37 19 34263476 34263476 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:34263476C>G uc002nus.3 + 5 1288 c.783C>G c.(781-783)TTC>TTG p.F261L CHST8_uc002nut.3_Missense_Mutation_p.F261L|CHST8_uc002nuu.2_Missense_Mutation_p.F261L NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 261 PAPS (By similarity).|Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) GCGAGCCCTTCGAGAGGCTGG 0.612 NaN 0 0 0 0.007413 0 18 191 FFAR3 2865 broad.mit.edu 37 19 35850555 35850555 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:35850555C>G uc002nzd.2 + 2 838 c.763C>G c.(763-765)CCG>GCG p.P255A FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 255 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CGGTGAAAGCCCGGCGTGGAG 0.592 NaN 0 0 0 0.019004 0 34 583 IL28A 282616 broad.mit.edu 37 19 39759824 39759824 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:39759824C>A uc002oku.1 + 3 277 c.225C>A c.(223-225)TGC>TGA p.C75* NM_172138 NP_742150 Q8IZJ0 IL28A_HUMAN interleukin 28A precursor 75 response to virus extracellular space cytokine activity ovary(1)|skin(1) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) ACTGCAGGTGCCACTCCCGCC 0.637 NaN 1 0 8.12818e-05 0.001984 0.000104505 6 26 CD3EAP 10849 broad.mit.edu 37 19 45910367 45910367 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:45910367C>T uc002pbq.1 + 2 526 c.38C>T c.(37-39)TCT>TTT p.S13F PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.S15F NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 13 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) GCTCGGTTCTCTTGTCCCCCC 0.592 NaN 0 0 0 0.005443 0 27 221 GRLF1 2909 broad.mit.edu 37 19 47502569 47502569 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:47502569G>A uc010ekv.2 + 5 4045 c.4045G>A c.(4045-4047)GAC>AAC p.D1349N NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1349 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AGAAATCAACGACCGGGAGCA 0.493 NaN 0 0 0 0.00308 0 7 15 PTOV1 53635 broad.mit.edu 37 19 50361229 50361229 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:50361229G>C uc002pqf.1 + 8 1043 c.873G>C c.(871-873)GAG>GAC p.E291D PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.E259D|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 291 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) ACCAGGGGGAGATCCTGTGAG 0.652 NaN 0 0 0 0.009096 0 4 123 TBC1D17 79735 broad.mit.edu 37 19 50387551 50387551 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:50387551G>C uc002pqo.2 + 11 1320 c.1168G>C c.(1168-1170)GAG>CAG p.E390Q TBC1D17_uc010ybg.1_Missense_Mutation_p.E357Q|TBC1D17_uc002pqp.2_Missense_Mutation_p.E41Q|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.E41Q|TBC1D17_uc002pqs.2_RNA NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 390 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CAAGTTCTACGAGGGTCCCGA 0.632 NaN 0 0 0 0.010771 0 44 310 TBC1D17 79735 broad.mit.edu 37 19 50387587 50387587 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:50387587G>A uc002pqo.2 + 11 1356 c.1204G>A c.(1204-1206)GAT>AAT p.D402N TBC1D17_uc010ybg.1_Missense_Mutation_p.D369N|TBC1D17_uc002pqp.2_Missense_Mutation_p.D53N|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.D53N|TBC1D17_uc002pqs.2_RNA NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 402 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCTGCTGAACGATATCCTCCT 0.662 NaN 0 0 0 0.01441 0 64 400 TBC1D17 79735 broad.mit.edu 37 19 50387778 50387778 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:50387778G>C uc002pqo.2 + 12 1458 c.1306G>C c.(1306-1308)GAT>CAT p.D436H TBC1D17_uc010ybg.1_Missense_Mutation_p.D403H|TBC1D17_uc002pqp.2_Missense_Mutation_p.D87H|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.D87H|TBC1D17_uc002pqs.2_RNA NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 436 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GAACGAGGTGGATGCTTTCTG 0.592 NaN 0 0 0 0.019004 0 35 237 FPR1 2357 broad.mit.edu 37 19 52249881 52249881 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:52249881G>A uc002pxq.2 - 2 462 c.367C>T c.(367-369)CGC>TGC p.R123C NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 123 Cytoplasmic (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CAAACACAGCGGTCCAGAGCA 0.552 NaN 0 0 0 0.005524 0 39 79 ZNF649 65251 broad.mit.edu 37 19 52393957 52393957 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:52393957G>A uc002pxy.2 - 5 1700 c.1432C>T c.(1432-1434)CAT>TAT p.H478Y ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_Intron NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CCCTGCACATGTTCACTAGGA 0.318 NaN 0 0 0 0.003163 0 15 319 ZNF615 284370 broad.mit.edu 37 19 52507119 52507119 + Translation_Start_Site SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:52507119T>A uc002pye.1 - 3 138 c.-154A>T c.(-156--152)GAAGG>GATGG ZNF615_uc002pyf.1_Translation_Start_Site|ZNF615_uc002pyg.1_Translation_Start_Site|ZNF615_uc002pyh.1_Translation_Start_Site|ZNF615_uc010epi.1_Intron|ZNF615_uc010ydg.1_Intron NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCCTCCTTCCTTCACTTGATT 0.428 NaN 0 0 0 0.009096 0 4 14 ZNF816A 125893 broad.mit.edu 37 19 53453850 53453850 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:53453850C>G uc002qal.1 - 5 1479 c.1178G>C c.(1177-1179)GGA>GCA p.G393A ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.G377A NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) AGGTTTCTCTCCAGTGTGAAG 0.393 NaN 0 0 0 0.01441 0 86 130 RPL28 6158 broad.mit.edu 37 19 55897738 55897738 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:55897738C>G uc002qkv.2 + 2 55 c.13C>G c.(13-15)CTG>GTG p.L5V uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.L5V|RPL28_uc010yfy.1_Missense_Mutation_p.L5V|RPL28_uc010yga.1_Missense_Mutation_p.L5V|RPL28_uc010ygb.1_Missense_Mutation_p.L5V|RPL28_uc002qkw.1_Missense_Mutation_p.L5V NM_000991 NP_000982 P46779 RL28_HUMAN ribosomal protein L28 isoform 2 5 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GTCTGCGCATCTGCAATGGAT 0.607 NaN 0 0 0 0.00499 0 17 50 UBE2S 27338 broad.mit.edu 37 19 55918274 55918274 + Silent SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:55918274C>A uc002qkx.1 - 2 428 c.60G>T c.(58-60)GTG>GTT p.V20V uc002qky.2_5'Flank NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 20 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) TCAGTGTCGTCACCTCCTTGT 0.602 NaN 1 0 2.27525e-19 0.021523 3.18228e-19 25 159 ZNF581 51545 broad.mit.edu 37 19 56156283 56156283 + Nonsense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:56156283G>T uc002qln.2 + 2 1062 c.346G>T c.(346-348)GAG>TAG p.E116* ZNF581_uc002qlq.2_Nonsense_Mutation_p.E116*|CCDC106_uc002qlr.2_5'Flank NM_016535 NP_057619 Q9P0T4 ZN581_HUMAN zinc finger protein 581 116 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) AAAGCCCTTCGAGTGTGACAT 0.607 NaN 1 0 0.00307968 0.00308 0.00387534 7 223 U2AF2 11338 broad.mit.edu 37 19 56175100 56175100 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:56175100C>G uc002qlu.2 + 7 1787 c.732C>G c.(730-732)GTC>GTG p.V244V U2AF2_uc002qlt.2_Silent_p.V244V NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 244 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ACCCCTCCGTCTATGTGCCTG 0.587 NaN 0 0 0 0.01441 0 86 196 ZFP28 140612 broad.mit.edu 37 19 57058946 57058946 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:57058946C>T uc002qnj.2 + 3 441 c.370C>T c.(370-372)CAG>TAG p.Q124* ZFP28_uc002qni.2_Nonsense_Mutation_p.Q124*|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 124 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GAACCCCATTCAGAGGAACTT 0.527 NaN 0 0 0 0.006122 0 19 94 AURKC 6795 broad.mit.edu 37 19 57744973 57744973 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr19:57744973T>A uc002qoe.2 + 5 770 c.581T>A c.(580-582)CTG>CAG p.L194Q AURKC_uc002qoc.2_Missense_Mutation_p.L175Q|AURKC_uc002qod.2_Missense_Mutation_p.L160Q|AURKC_uc010etv.2_Missense_Mutation_p.L191Q NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 194 Protein kinase. SLR -> LPE (in Ref. 2; AAC77369). cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) ACCCCCTCCCTGAGGTAGGTC 0.483 NaN 0 0 0 0.005443 0 27 144 TPO 7173 broad.mit.edu 37 2 1481320 1481320 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:1481320T>A uc002qww.2 + 8 1373 c.1282T>A c.(1282-1284)TGG>AGG p.W428R TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.W428R|TPO_uc002qwr.2_Missense_Mutation_p.W428R|TPO_uc002qwx.2_Missense_Mutation_p.W428R|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.W428R NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 428 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CAATGCGCACTGGAGCGCGGA 0.741 NaN 0 0 0 0.00308 0 7 9 C2orf44 80304 broad.mit.edu 37 2 24261333 24261333 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:24261333C>G uc002rep.2 - 2 1163 c.1032G>C c.(1030-1032)CTG>CTC p.L344L C2orf44_uc010eya.2_Silent_p.L344L NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 344 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAATGCTATCAGATCAGGAA 0.418 NaN 0 0 0 0.009096 0 4 93 ADCY3 109 broad.mit.edu 37 2 25141819 25141819 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:25141819G>A uc002rfs.3 - 1 237 c.38C>T c.(37-39)TCG>TTG p.S13L ADCY3_uc010ykm.1_Missense_Mutation_p.S13L NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 13 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) gtactcggccgagtattcggG 0.542 NaN 0 0 0 0.014758 0 4 21 OTOF 9381 broad.mit.edu 37 2 26706369 26706369 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:26706369G>C uc002rhk.2 - 13 1480 c.1353C>G c.(1351-1353)CTC>CTG p.L451L NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 451 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGGGTCCACGAGGTCCTTGT 0.537 NaN 0 0 0 0.003163 0 15 92 C2orf16 84226 broad.mit.edu 37 2 27804486 27804486 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:27804486G>C uc002rkz.3 + 1 5098 c.5047G>C c.(5047-5049)GAG>CAG p.E1683Q ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1683 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|7. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CGGTCCCTCAGAGAGAAGCCA 0.567 NaN 0 0 0 0.010729 0 11 342 BIRC6 57448 broad.mit.edu 37 2 32743962 32743962 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:32743962C>T uc010ezu.2 + 57 11706 c.11572C>T c.(11572-11574)CTT>TTT p.L3858F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3858 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATTCCGTACTCTTCATTTGCC 0.368 NaN 0 0 0 0.004482 0 7 36 BIRC6 57448 broad.mit.edu 37 2 32743965 32743965 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:32743965C>T uc010ezu.2 + 57 11709 c.11575C>T c.(11575-11577)CAT>TAT p.H3859Y NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3859 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CCGTACTCTTCATTTGCCAGT 0.363 NaN 0 0 0 0.004482 0 7 36 BIRC6 57448 broad.mit.edu 37 2 32743998 32743998 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:32743998C>G uc010ezu.2 + 57 11742 c.11608C>G c.(11608-11610)CTT>GTT p.L3870V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3870 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATCAGATGTTCTTGACAGAGT 0.348 NaN 0 0 0 0.014758 0 5 27 PRKD3 23683 broad.mit.edu 37 2 37505009 37505009 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:37505009C>G uc002rqd.2 - 8 1851 c.1296G>C c.(1294-1296)CTG>CTC p.L432L PRKD3_uc002rqe.1_Silent_p.L32L|PRKD3_uc002rqf.1_Silent_p.L432L NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 432 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) GATTACTGACCAGGTTATCCC 0.378 NaN 0 0 0 0.005524 0 36 83 PLEKHH2 130271 broad.mit.edu 37 2 43953483 43953483 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:43953483G>C uc010yny.1 + 17 2697 c.2614G>C c.(2614-2616)GAT>CAT p.D872H PLEKHH2_uc002rtf.3_Missense_Mutation_p.D871H NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 872 PH 2. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTCAGATGAAGATTATGAAGC 0.398 NaN 0 0 0 0.004672 0 3 51 SIX3 6496 broad.mit.edu 37 2 45171878 45171878 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:45171878C>G uc002run.1 + 2 1185 c.978C>G c.(976-978)AGC>AGG p.S326R NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 326 visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TAACCTCCAGCGACTCGGAAT 0.448 NaN 0 0 0 0.009096 0 3 9 PAIP2B 400961 broad.mit.edu 37 2 71415650 71415650 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:71415650T>C uc002shu.2 - 4 518 c.331A>G c.(331-333)AAC>GAC p.N111D NM_020459 NP_065192 Q9ULR5 PAI2B_HUMAN poly(A) binding protein interacting protein 2B 111 negative regulation of translational initiation protein binding|translation repressor activity, nucleic acid binding 0 GCATCTGGGTTCAGGTTACTT 0.433 NaN 0 0 0 0.004672 0 3 21 RAB11FIP5 26056 broad.mit.edu 37 2 73316194 73316194 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:73316194C>G uc002siu.3 - 2 922 c.681G>C c.(679-681)AAG>AAC p.K227N RAB11FIP5_uc002sit.3_Missense_Mutation_p.K149N NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 227 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CTTTGCCCATCTTGCCCAGGC 0.587 NaN 0 0 0 0.009535 0 31 134 SEMA4F 10505 broad.mit.edu 37 2 74900804 74900804 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:74900804C>T uc002sna.1 + 7 782 c.671C>T c.(670-672)GCC>GTC p.A224V SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.A191V|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 224 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTATTCCCAGCCCCAGCCTTT 0.592 NaN 0 0 0 0.005443 0 28 57 TACR1 6869 broad.mit.edu 37 2 75425676 75425676 + Missense_Mutation SNP C C G rs77755890 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:75425676C>G uc002sng.2 - 1 970 c.385G>C c.(385-387)GAT>CAT p.D129H TACR1_uc002snh.2_Missense_Mutation_p.D129H NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 129 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) TCTCACCTATCAAAGGCCACA 0.512 NaN 0 0 0 0.001984 0 7 103 REG1A 5967 broad.mit.edu 37 2 79347991 79347991 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:79347991G>T uc002snz.2 + 2 107 c.4G>T c.(4-6)GCT>TCT p.A2S REG1A_uc010ffx.1_Missense_Mutation_p.A2S|REG1A_uc010ysd.1_Missense_Mutation_p.A2S NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 2 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GCTCAGCATGGCTCAGACCAG 0.473 NaN 1 0 5.9392e-07 0.001168 7.88086e-07 5 48 POLR1A 25885 broad.mit.edu 37 2 86280076 86280076 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:86280076C>T uc002sqs.2 - 16 2635 c.2256G>A c.(2254-2256)GCG>GCA p.A752A POLR1A_uc010ytb.1_Silent_p.A118A NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 752 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TCCCATAGTGCGCCTTGTCCA 0.632 NaN 0 0 0 0.007291 0 28 39 RPIA 22934 broad.mit.edu 37 2 89034118 89034118 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:89034118T>C uc002ste.2 + 5 553 c.512T>C c.(511-513)CTC>CCC p.L171P NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 171 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) GATCTCAATCTCATCAAGGGT 0.448 NaN 0 0 0 0.009535 0 31 62 GPAT2 150763 broad.mit.edu 37 2 96687951 96687951 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:96687951G>C uc002svf.2 - 22 2567 c.2344C>G c.(2344-2346)CAG>GAG p.Q782E LOC729234_uc010fht.2_Intron|GPAT2_uc002svd.2_Missense_Mutation_p.Q601E|GPAT2_uc002sve.2_Missense_Mutation_p.Q584E|GPAT2_uc002svg.2_Missense_Mutation_p.Q661E|GPAT2_uc010yuh.1_Missense_Mutation_p.Q711E|GPAT2_uc002svh.2_3'UTR NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 782 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 AGTTTTTCCTGATTGTCCAGG 0.562 NaN 0 0 0 0.008871 0 16 25 REV1 51455 broad.mit.edu 37 2 100020219 100020219 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:100020219C>T uc002tad.2 - 19 3317 c.3105G>A c.(3103-3105)GCG>GCA p.A1035A REV1_uc002tac.2_Silent_p.A1034A NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 1035 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding p.A1035A(1) ovary(2) 2 TTTGATCATACGCTGCTTTCA 0.498 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 54 70 IL18R1 8809 broad.mit.edu 37 2 102984374 102984374 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:102984374G>A uc002tbw.3 + 3 298 c.148G>A c.(148-150)GAA>AAA p.E50K IL18R1_uc010ywb.1_Missense_Mutation_p.E50K|IL18R1_uc010ywc.1_Missense_Mutation_p.E50K|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.E50K NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 50 Ig-like C2-type 1.|Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity p.E50K(1) ovary(2)|pancreas(1) 3 ACATGAGATTGAAACAACCAC 0.428 NaN 0 0 0 0.009096 0 4 45 SLC9A4 389015 broad.mit.edu 37 2 103119941 103119941 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:103119941T>G uc002tbz.3 + 3 1212 c.755T>G c.(754-756)ATG>AGG p.M252R NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 252 Extracellular (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 TTTACAAAGATGCATAAATTT 0.373 NaN 0 0 0 0.014758 0 5 31 GCC2 9648 broad.mit.edu 37 2 109087478 109087478 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:109087478C>T uc002tec.2 + 6 1847 c.1693C>T c.(1693-1695)CAA>TAA p.Q565* GCC2_uc002ted.2_Nonsense_Mutation_p.Q464* NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 565 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAAGAACCTTCAAGAAAAGAA 0.204 NaN 0 0 0 0.001984 0 7 29 UGGT1 56886 broad.mit.edu 37 2 128913070 128913070 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:128913070C>T uc002tps.2 + 20 2323 c.2145C>T c.(2143-2145)TTC>TTT p.F715F UGGT1_uc010fme.1_Silent_p.F590F|UGGT1_uc002tpr.2_Silent_p.F691F NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 715 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 CAGATAACTTCTTTGTGGATG 0.323 NaN 0 0 0 0.001168 0 6 42 NXPH2 11249 broad.mit.edu 37 2 139428601 139428601 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:139428601T>C uc002tvi.2 - 2 686 c.686A>G c.(685-687)AAG>AGG p.K229R NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 229 V (Cys-rich). neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) GCAAATGACCTTGAAGGGCTT 0.468 NaN 0 0 0 0.010504 0 21 16 LRP1B 53353 broad.mit.edu 37 2 141806780 141806780 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:141806780C>G uc002tvj.1 - 11 2536 c.1564G>C c.(1564-1566)GAG>CAG p.E522Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 522 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGAACAACTCATTCTTTGGT 0.398 NaN TSP Lung(27;0.18) 0 0 0 0.008291 0 10 21 BAZ2B 29994 broad.mit.edu 37 2 160194090 160194090 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:160194090T>A uc002uao.2 - 32 6000 c.5648A>T c.(5647-5649)AAC>ATC p.N1883I BAZ2B_uc002uap.2_Missense_Mutation_p.N1847I NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TCTTTCAATGTTCCGCTCCAA 0.483 NaN 0 0 0 0.015359 0 35 89 BAZ2B 29994 broad.mit.edu 37 2 160206576 160206576 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:160206576G>C uc002uao.2 - 28 4858 c.4506C>G c.(4504-4506)AAC>AAG p.N1502K BAZ2B_uc002uap.2_Missense_Mutation_p.N1466K NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GTTTTCCACTGTTCTGATAAG 0.448 NaN 0 0 0 0.004007 0 17 43 SCN1A 6323 broad.mit.edu 37 2 166850897 166850897 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:166850897G>T uc010zcz.1 - 25 4596 c.4578C>A c.(4576-4578)TTC>TTA p.F1526L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1537 Helical; Name=S1 of repeat IV; (By similarity).|IV. F -> L (in Ref. 7; CAA46439/M91803). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTCTGGTTACGAAGTCAAAGA 0.353 NaN 1 0 1.23904e-05 0.014758 1.61056e-05 4 10 XIRP2 129446 broad.mit.edu 37 2 168105339 168105339 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:168105339G>A uc002udx.2 + 8 7455 c.7437G>A c.(7435-7437)CAG>CAA p.Q2479Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q2304Q|XIRP2_uc010fpq.2_Silent_p.Q2257Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2304 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGACAAAGCAGAACGTTATTA 0.403 NaN 0 0 0 0.013537 0 13 15 LRP2 4036 broad.mit.edu 37 2 170019001 170019001 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:170019001C>A uc002ues.2 - 63 12081 c.11868G>T c.(11866-11868)TGG>TGT p.W3956C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3956 LDL-receptor class A 36.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTTCATCGGACCAGTCACCAC 0.388 NaN 1 0 3.65163e-15 0.00632 5.03086e-15 27 47 SLC25A12 8604 broad.mit.edu 37 2 172749752 172749752 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:172749752C>T uc002uhh.2 - 2 118 c.29G>A c.(28-30)CGA>CAA p.R10Q SLC25A12_uc010fqh.2_5'UTR|SLC25A12_uc010zdv.1_RNA NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 10 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AGGATCCCCTCGCTTAGTTGT 0.393 NaN 0 0 0 0.008361 0 27 133 TTN 7273 broad.mit.edu 37 2 179399173 179399173 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:179399173C>A uc010zfg.1 - 307 94689 c.94465G>T c.(94465-94467)GAG>TAG p.E31489* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E25184*|TTN_uc010zfi.1_Nonsense_Mutation_p.E25117*|TTN_uc010zfj.1_Nonsense_Mutation_p.E24992* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32416 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) GATTTCCTCTCTTTCACTAAC 0.398 NaN 1 0 1.26454e-06 0.005443 1.67527e-06 25 98 TTN 7273 broad.mit.edu 37 2 179444828 179444828 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:179444828C>G uc010zfg.1 - 267 59706 c.59482G>C c.(59482-59484)GCA>CCA p.A19828P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13523P|TTN_uc010zfi.1_Missense_Mutation_p.A13456P|TTN_uc010zfj.1_Missense_Mutation_p.A13331P|uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20755 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) TTCCTCTCTGCATCACGTTTT 0.438 NaN 0 0 0 0.003163 0 15 106 TTN 7273 broad.mit.edu 37 2 179578817 179578817 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:179578817G>C uc010zfg.1 - 89 23060 c.22836C>G c.(22834-22836)ACC>ACG p.T7612T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T4273T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8539 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) TGAGTTCAGGGGTGCCAGCTA 0.413 NaN 0 0 0 0.013537 0 13 17 TTN 7273 broad.mit.edu 37 2 179579153 179579153 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:179579153A>G uc010zfg.1 - 88 22840 c.22616T>C c.(22615-22617)ATA>ACA p.I7539T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I4200T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8466 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) AGAAATCCATATGTTGTCACT 0.413 NaN 0 0 0 0.004007 0 17 23 TTN 7273 broad.mit.edu 37 2 179642507 179642507 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:179642507A>C uc010zfg.1 - 25 4628 c.4404T>G c.(4402-4404)TGT>TGG p.C1468W TTN_uc010zfh.1_Missense_Mutation_p.C1422W|TTN_uc010zfi.1_Missense_Mutation_p.C1422W|TTN_uc010zfj.1_Missense_Mutation_p.C1422W|TTN_uc002unb.2_Missense_Mutation_p.C1468W|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1468 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) GCCCTTCTAAACATTTGAAAG 0.418 NaN 0 0 0 0.013537 0 12 59 DNAH7 56171 broad.mit.edu 37 2 196602713 196602713 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:196602713G>A uc002utj.3 - 65 12108 c.12007C>T c.(12007-12009)CCC>TCC p.P4003S DNAH7_uc002uti.3_Missense_Mutation_p.P486S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 4003 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGGTCAGAGGGAAGAGTCATG 0.438 NaN 0 0 0 0.00308 0 7 41 CFLAR 8837 broad.mit.edu 37 2 202000716 202000716 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:202000716G>A uc002uxb.3 + 4 861 c.409G>A c.(409-411)GAG>AAG p.E137K CFLAR_uc002uwy.2_Missense_Mutation_p.E137K|CFLAR_uc002uwz.2_Missense_Mutation_p.E137K|CFLAR_uc002uxa.3_Missense_Mutation_p.E137K|CFLAR_uc010zhk.1_Missense_Mutation_p.E41K|CFLAR_uc002uxc.3_Missense_Mutation_p.E137K|CFLAR_uc010zhl.1_Missense_Mutation_p.E41K|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.E137K|CFLAR_uc002uxe.2_Missense_Mutation_p.E137K|CFLAR_uc002uxf.2_Missense_Mutation_p.E137K|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Missense_Mutation_p.E137K|CFLAR_uc010zhm.1_Missense_Mutation_p.E41K|CFLAR_uc010fsz.2_5'UTR NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 137 Interaction with FADD.|Interaction with caspase-8.|DED 2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 propeptide. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 CCTTGTGGTTGAGTTGGAGAA 0.313 NaN 0 0 0 0.008361 0 28 139 BMPR2 659 broad.mit.edu 37 2 203420499 203420499 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:203420499C>G uc002uzf.3 + 12 3259 c.2111C>G c.(2110-2112)TCT>TGT p.S704C BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 704 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 AGTACTAGTTCTAGCTTGCTT 0.443 NaN 0 0 0 0.009096 0 4 102 ABCA12 26154 broad.mit.edu 37 2 215851389 215851389 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:215851389G>A uc002vew.2 - 28 4260 c.4040C>T c.(4039-4041)GCC>GTC p.A1347V ABCA12_uc002vev.2_Missense_Mutation_p.A1029V|ABCA12_uc010zjn.1_Missense_Mutation_p.A274V NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1347 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCCATGCAGGGCAACCCCGAC 0.438 NaN 0 0 0 0.014758 0 4 64 STK36 27148 broad.mit.edu 37 2 219559043 219559043 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:219559043C>T uc002viu.2 + 20 2659 c.2393C>T c.(2392-2394)TCT>TTT p.S798F STK36_uc002viv.2_Missense_Mutation_p.S798F|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 798 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CATGTCGTCTCTCTTGTGGTA 0.458 NaN 0 0 0 0.008291 0 8 195 COL4A3 1285 broad.mit.edu 37 2 228148486 228148486 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:228148486A>T uc002vom.1 + 33 2822 c.2660A>T c.(2659-2661)GAA>GTA p.E887V COL4A3_uc002von.1_Missense_Mutation_p.E887V|COL4A3_uc002voo.1_Missense_Mutation_p.E887V|COL4A3_uc002vop.1_Missense_Mutation_p.E887V|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 887 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TCCATAGGTGAAGATGGAGTG 0.458 NaN 0 0 0 0.009718 0 40 111 SPHKAP 80309 broad.mit.edu 37 2 228881823 228881823 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:228881823C>T uc002vpq.2 - 7 3794 c.3747G>A c.(3745-3747)CTG>CTA p.L1249L SPHKAP_uc002vpp.2_Silent_p.L1249L|SPHKAP_uc010zlx.1_Silent_p.L1249L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1249 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATTCACTGTCAGCCTGGAGC 0.567 NaN 0 0 0 0.016723 0 13 91 SPHKAP 80309 broad.mit.edu 37 2 228882099 228882099 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr2:228882099G>C uc002vpq.2 - 7 3518 c.3471C>G c.(3469-3471)AGC>AGG p.S1157R SPHKAP_uc002vpp.2_Missense_Mutation_p.S1157R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1157R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1157 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCAGAATGCTGCTGGCGTTCT 0.512 NaN 0 0 0 0.008291 0 11 79 DEFB128 245939 broad.mit.edu 37 20 168750 168750 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:168750C>T uc002wcz.1 - 2 59 c.59G>A c.(58-60)AGA>AAA p.R20K NM_001037732 NP_001032821 Q7Z7B8 DB128_HUMAN beta-defensin 128 precursor 20 defense response to bacterium extracellular region p.R20fs*4(1) breast(1) 1 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) TTTTTTGAGTCTTGCCCCGTC 0.423 NaN 0 0 0 0.00308 0 7 95 TMC2 117532 broad.mit.edu 37 20 2573052 2573052 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:2573052G>C uc002wgf.1 + 8 946 c.931G>C c.(931-933)GAG>CAG p.E311Q TMC2_uc002wgg.1_Missense_Mutation_p.E295Q|TMC2_uc010zpw.1_Missense_Mutation_p.E143Q|TMC2_uc010zpx.1_Missense_Mutation_p.E142Q NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 311 Extracellular (Potential). integral to membrane ovary(3) 3 TTGGGATTTTGAGGTACTATT 0.403 NaN 0 0 0 0.01441 0 70 113 CDC25B 994 broad.mit.edu 37 20 3783805 3783805 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:3783805G>A uc002wjn.2 + 13 2086 c.1308G>A c.(1306-1308)GTG>GTA p.V436V CDC25B_uc010zqk.1_Silent_p.V372V|CDC25B_uc010zql.1_Silent_p.V358V|CDC25B_uc010zqm.1_Silent_p.V345V|CDC25B_uc002wjl.2_Silent_p.V324V|CDC25B_uc002wjm.2_Silent_p.V324V|CDC25B_uc002wjo.2_Silent_p.V422V|CDC25B_uc002wjp.2_Silent_p.V395V|CDC25B_uc002wjq.2_Silent_p.V236V|CDC25B_uc010gbc.2_Silent_p.V17V NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 436 Rhodanese. cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 ATAAGTTTGTGATTGTAGACT 0.547 NaN 0 0 0 0.010818 0 29 55 RIN2 54453 broad.mit.edu 37 20 19956386 19956386 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:19956386G>C uc002wro.1 + 7 1753 c.1717G>C c.(1717-1719)GAG>CAG p.E573Q RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.E367Q NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 573 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 TCAGAGCTCGGAGCTGGACCC 0.507 NaN 0 0 0 0.013537 0 12 41 ZNF337 26152 broad.mit.edu 37 20 25656356 25656356 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:25656356C>T uc002wva.2 - 4 2090 c.1568G>A c.(1567-1569)CGA>CAA p.R523Q uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R491Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R523Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R523Q NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 523 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTAAAGCCTCGCCCACAATC 0.488 NaN 0 0 0 0.010729 0 12 156 MYLK2 85366 broad.mit.edu 37 20 30408240 30408240 + Missense_Mutation SNP G G A rs34471514 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:30408240G>A uc002wwq.2 + 3 466 c.364G>A c.(364-366)GAT>AAT p.D122N NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 122 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGGCAGCCAGGATCCTGGAAA 0.667 NaN 0 0 0 0.015359 0 31 109 CBFA2T2 9139 broad.mit.edu 37 20 32199130 32199130 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:32199130C>T uc002wzg.1 + 4 973 c.436C>T c.(436-438)CTT>TTT p.L146F CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L137F|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L117F|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 146 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 GACTCTTGTTCTTGCACTGGT 0.478 NaN 0 0 0 0.020292 0 15 134 TRPC4AP 26133 broad.mit.edu 37 20 33596493 33596493 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:33596493C>T uc002xbk.2 - 13 1603 c.1569G>A c.(1567-1569)AAG>AAA p.K523K TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Silent_p.K114K|TRPC4AP_uc002xbl.2_Silent_p.K515K|TRPC4AP_uc010zur.1_Silent_p.K484K|TRPC4AP_uc002xbm.1_Silent_p.K523K NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 523 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTGGCTCCTTCTTCATGACCT 0.507 NaN 0 0 0 0.01441 0 82 281 CPNE1 8904 broad.mit.edu 37 20 34219936 34219936 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:34219936T>A uc002xdf.2 - 8 831 c.468A>T c.(466-468)GGA>GGT p.G156G CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.G161G|CPNE1_uc002xde.2_Silent_p.G132G|CPNE1_uc002xdg.2_Silent_p.G156G|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.G156G|CPNE1_uc002xdi.2_Silent_p.G156G|CPNE1_uc002xdj.2_Silent_p.G156G|CPNE1_uc002xdk.2_Silent_p.G156G|CPNE1_uc002xdl.2_Silent_p.G156G|CPNE1_uc002xdm.2_Silent_p.G156G|CPNE1_uc010gfk.1_Silent_p.G156G NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 156 C2 2. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) GATCTGATTTTCCCAGGAAGT 0.537 NaN 0 0 0 0.021523 0 25 162 C20orf152 140894 broad.mit.edu 37 20 34596337 34596337 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:34596337C>T uc002xes.1 + 9 1245 c.1089C>T c.(1087-1089)TTC>TTT p.F363F C20orf152_uc002xer.1_Silent_p.F363F|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 363 0 Breast(12;0.00631) GGACAAGCTTCAGCAGGAAGA 0.502 NaN 0 0 0 0.016723 0 13 147 SRC 6714 broad.mit.edu 37 20 36030892 36030892 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:36030892C>T uc002xgx.2 + 12 1620 c.1171C>T c.(1171-1173)CGT>TGT p.R391C SRC_uc002xgy.2_Missense_Mutation_p.R391C NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 391 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CCGGGACCTTCGTGCAGCCAA 0.627 NaN 0 0 0 0.001168 0 6 112 KIAA0406 9675 broad.mit.edu 37 20 36625251 36625251 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:36625251G>A uc002xhl.2 - 7 3107 c.2898C>T c.(2896-2898)ATC>ATT p.I966I KIAA0406_uc002xhm.2_Silent_p.I966I NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 966 binding 0 Myeloproliferative disorder(115;0.00874) CCCTGGCACTGATGGGGGCCT 0.597 NaN 0 0 0 0.01441 0 49 335 MAFB 9935 broad.mit.edu 37 20 39316774 39316774 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:39316774C>T uc002xji.2 - 1 1103 c.717G>A c.(715-717)CTG>CTA p.L239L NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 239 Basic motif. negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) GCTTCTGCTTCAGGCGGATCA 0.632 NaN T IGH@ MM 0 0 0 0.00308 0 7 60 SFRS6 6431 broad.mit.edu 37 20 42086760 42086760 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:42086760C>G uc010zwg.1 + 1 257 c.87C>G c.(85-87)CTC>CTG p.L29L SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Silent_p.L29L NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 29 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCCGCCTCCTCGAAGTAGACC 0.647 NaN 0 0 0 0.007413 0 17 87 TOX2 84969 broad.mit.edu 37 20 42635186 42635186 + Splice_Site SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:42635186G>A uc002xlf.3 + 3 210 c.193_splice c.e3-1 p.T65_splice TOX2_uc010ggo.2_Splice_Site_p.T56_splice|TOX2_uc002xle.3_Splice_Site_p.T14_splice|TOX2_uc010ggp.2_Splice_Site_p.T14_splice|TOX2_uc002xlg.2_Splice_Site_p.T14_splice NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGATGTTTTAGACCTACAACG 0.453 NaN 0 0 0 0.010818 0 30 241 WISP2 8839 broad.mit.edu 37 20 43355830 43355830 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:43355830T>A uc002xmn.2 + 5 988 c.635T>A c.(634-636)ATG>AAG p.M212K uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.M212K|WISP2_uc002xmq.2_Missense_Mutation_p.W130R NM_003881 NP_003872 O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 212 TSP type-1. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GGGCTGGGCATGGCCACCCGG 0.687 NaN 0 0 0 0.00874 0 43 128 KCNK15 60598 broad.mit.edu 37 20 43379189 43379189 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:43379189A>C uc002xmr.2 + 2 767 c.703A>C c.(703-705)ATT>CTT p.I235L NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 235 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) GCTCACGGTCATTGGCGCCTT 0.612 NaN 0 0 0 0.01441 0 46 193 PI3 5266 broad.mit.edu 37 20 43804728 43804728 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:43804728G>A uc002xng.2 + 2 330 c.306G>A c.(304-306)AAG>AAA p.K102K NM_002638 NP_002629 P19957 ELAF_HUMAN elafin preproprotein 102 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) CAGGAATCAAGAAGTGCTGTG 0.542 NaN 0 0 0 0.00499 0 16 134 NCOA3 8202 broad.mit.edu 37 20 46279914 46279914 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:46279914C>T uc002xtk.2 + 20 4045 c.3840C>T c.(3838-3840)TTC>TTT p.F1280F NCOA3_uc010ght.1_Silent_p.F1271F|NCOA3_uc002xtl.2_Silent_p.F1276F|NCOA3_uc002xtm.2_Silent_p.F1275F|NCOA3_uc002xtn.2_Silent_p.F1279F|NCOA3_uc010zyc.1_Silent_p.F1075F NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1280 Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CCCAGGCCTTCAGCCCACCTC 0.308 NaN 0 0 0 0.01892 0 25 100 PREX1 57580 broad.mit.edu 37 20 47274684 47274684 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:47274684G>A uc002xtw.1 - 17 1987 c.1964C>T c.(1963-1965)TCG>TTG p.S655L PREX1_uc002xtv.1_5'Flank NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 655 PDZ. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CTCAGCCAGCGAGCCCCTCTG 0.657 NaN OREG0026010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 285 545 SLC9A8 23315 broad.mit.edu 37 20 48503325 48503325 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:48503325A>G uc002xuv.1 + 15 1738 c.1528A>G c.(1528-1530)ACG>GCG p.T510A SLC9A8_uc010zym.1_Missense_Mutation_p.T210A|SLC9A8_uc010gid.2_Missense_Mutation_p.T134A NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 510 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GTCGGAGCTCACGGAGGAGGA 0.647 NaN 0 0 0 0.01441 0 100 100 PCK1 5105 broad.mit.edu 37 20 56136482 56136482 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:56136482G>A uc002xyn.3 + 2 178 c.15G>A c.(13-15)CTG>CTA p.L5L PCK1_uc010zzm.1_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 5 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTCCTCAGCTGCAAAACGGCC 0.527 NaN 0 0 0 0.010771 0 38 227 GNAS 2778 broad.mit.edu 37 20 57429712 57429712 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:57429712T>A uc002xzw.2 + 1 1677 c.1392T>A c.(1390-1392)GAT>GAA p.D464E GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCCCAGCCGATCCAGATGCCG 0.796 NaN Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 0 0 0 0.001984 0 7 3 PRIC285 85441 broad.mit.edu 37 20 62196310 62196310 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:62196310C>G uc002yfm.2 - 9 4757 c.3865G>C c.(3865-3867)GAG>CAG p.E1289Q PRIC285_uc002yfl.1_Missense_Mutation_p.E720Q NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1289 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GTGCTGGCCTCAGGCAGCACC 0.672 NaN 0 0 0 0.004482 0 9 51 UCKL1 54963 broad.mit.edu 37 20 62571633 62571633 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:62571633G>A uc010gkn.2 - 14 1480 c.1437C>T c.(1435-1437)ATC>ATT p.I479I UCKL1_uc002yhj.2_Silent_p.I122I|UCKL1_uc011abm.1_Silent_p.I464I|UCKL1_uc011abn.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 479 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ACAGCAAAAAGATCTTGTCCT 0.587 NaN 0 0 0 0.021022 0 34 53 PRPF6 24148 broad.mit.edu 37 20 62624835 62624835 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr20:62624835C>G uc002yho.2 + 4 603 c.435C>G c.(433-435)CTC>CTG p.L145L PRPF6_uc002yhp.2_Silent_p.L145L NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 145 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TCTCAGACCTCAAGGTGAGCC 0.463 NaN 0 0 0 0.004656 0 23 38 HSPA13 6782 broad.mit.edu 37 21 15746243 15746243 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:15746243C>G uc002yjt.2 - 5 1180 c.1111G>C c.(1111-1113)GAT>CAT p.D371H HSPA13_uc011abx.1_Missense_Mutation_p.D163H NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 371 endoplasmic reticulum|microsome ATP binding kidney(1) 1 TTAAGGGTATCAAAGAGTTTC 0.408 NaN 0 0 0 0.007835 0 40 115 KRTAP13-3 337960 broad.mit.edu 37 21 31798111 31798111 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:31798111G>A uc002yob.1 - 1 120 c.120C>T c.(118-120)CTC>CTT p.L40L NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 40 intermediate filament ovary(1)|lung(1) 2 TGGGAGAGCAGAGGTCAGTGC 0.582 NaN 0 0 0 0.004482 0 8 82 SON 6651 broad.mit.edu 37 21 34927545 34927545 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:34927545C>T uc002yse.1 + 3 6057 c.6008C>T c.(6007-6009)TCT>TTT p.S2003F SON_uc002ysb.1_Missense_Mutation_p.S2003F|SON_uc002ysc.2_Missense_Mutation_p.S2003F|SON_uc002ysd.2_Missense_Mutation_p.S994F|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S994F NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 2003 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|3-2. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AGATCAAGGTCTGTGGTAAGA 0.254 NaN 0 0 0 0.004656 0 25 126 DOPEY2 9980 broad.mit.edu 37 21 37602841 37602841 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:37602841G>C uc002yvg.2 + 14 1838 c.1759G>C c.(1759-1761)GAG>CAG p.E587Q DOPEY2_uc011aeb.1_Missense_Mutation_p.E587Q NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 587 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TCTGAAGTCTGAGGACAGTGG 0.507 NaN 0 0 0 0.007291 0 29 137 DSCR3 10311 broad.mit.edu 37 21 38612875 38612875 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:38612875C>G uc002ywf.1 - 3 362 c.123G>C c.(121-123)TTG>TTC p.L41F DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_5'UTR|DSCR3_uc010gnl.2_Missense_Mutation_p.L41F|DSCR3_uc011aeg.1_Missense_Mutation_p.L41F|DSCR3_uc011aeh.1_Intron NM_006052 NP_006043 O14972 DSCR3_HUMAN Down syndrome critical region protein 3 41 vacuolar transport nucleus|retromer complex 0 CTTCCATGGTCAAAGACACTC 0.443 NaN 0 0 0 0.014758 0 4 96 LCA5L 150082 broad.mit.edu 37 21 40800153 40800153 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:40800153C>T uc002yxu.2 - 4 580 c.267G>A c.(265-267)GTG>GTA p.V89V LCA5L_uc002yxv.2_Silent_p.V89V|LCA5L_uc002yxw.1_Silent_p.V89V|LCA5L_uc002yxx.1_Intron|LCA5L_uc002yxy.2_RNA NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 89 0 Prostate(19;1.2e-06) TTTCTTTTACCACAGGCTGCT 0.323 NaN 0 0 0 0.01441 0 54 107 UBASH3A 53347 broad.mit.edu 37 21 43833287 43833287 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:43833287G>A uc002zbe.2 + 4 545 c.509G>A c.(508-510)CGG>CAG p.R170Q UBASH3A_uc002zbf.2_Missense_Mutation_p.R170Q|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.R170Q NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 170 cytosol|nucleus ovary(3) 3 GACGTCATCCGGGAATTCGCC 0.622 NaN 0 0 0 0.016522 0 20 139 LRRC3 81543 broad.mit.edu 37 21 45876889 45876889 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:45876889C>G uc002zfa.2 + 2 655 c.362C>G c.(361-363)TCT>TGT p.S121C NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN leucine-rich repeat-containing 3 precursor 121 LRR 3. integral to membrane protein binding 0 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) CTGGACCTGTCTTACAACCGC 0.672 NaN 0 0 0 0.014323 0 19 60 KRTAP10-10 353333 broad.mit.edu 37 21 46058039 46058039 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr21:46058039C>T uc002zfq.2 + 1 767 c.705C>T c.(703-705)TGC>TGT p.C235C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 235 keratin filament 0 GCCCCGTGTGCTCCCGCCCTG 0.697 NaN 0 0 0 0.01441 0 61 178 HIRA 7290 broad.mit.edu 37 22 19384471 19384471 + Splice_Site SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:19384471C>T uc002zpf.1 - 7 714 c.494_splice c.e7-1 p.E165_splice HIRA_uc011agx.1_Splice_Site_p.E31_splice|HIRA_uc010grn.1_Splice_Site_p.E165_splice|HIRA_uc010gro.1_Splice_Site_p.E121_splice|HIRA_uc010grp.2_Splice_Site NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GCTAGAATTTCTGTGAAGAAA 0.483 NaN 0 0 0 0.016723 0 13 64 ARVCF 421 broad.mit.edu 37 22 19967410 19967410 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:19967410G>A uc002zqz.2 - 6 1523 c.1252C>T c.(1252-1254)CGC>TGC p.R418C ARVCF_uc002zqy.2_5'Flank NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 418 ARM 2. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CAGGCCCGGCGCCGCACCTCA 0.687 NaN 0 0 0 0.001168 0 5 14 CABIN1 23523 broad.mit.edu 37 22 24439456 24439456 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:24439456G>A uc002zzi.1 + 6 563 c.436G>A c.(436-438)GCT>ACT p.A146T CABIN1_uc002zzj.1_Missense_Mutation_p.A146T|CABIN1_uc002zzl.1_Missense_Mutation_p.A146T|CABIN1_uc010guk.1_Missense_Mutation_p.A101T|CABIN1_uc002zzk.1_Missense_Mutation_p.A101T NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 146 TPR 3. cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GGCTCGCCATGCTTTTGAGGA 0.537 NaN 0 0 0 0.014323 0 22 83 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:29091841G>A uc003adu.1 - 11 1188 c.1116C>T c.(1114-1116)TCC>TCT p.S372S CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 372 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCAAAATCTTGGAGTGCCCAA 0.413 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.006122 0 8 55 PATZ1 23598 broad.mit.edu 37 22 31731850 31731850 + Splice_Site SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:31731850C>G uc003akq.2 - 3 1997 c.1336_splice c.e3-1 p.T446_splice PATZ1_uc003akp.2_Splice_Site_p.T446_splice|PATZ1_uc003akr.2_Splice_Site_p.T446_splice NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CATTGCAGGTCTGAAGGCAGA 0.552 NaN 0 0 0 0.009096 0 4 76 L3MBTL2 83746 broad.mit.edu 37 22 41625593 41625593 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:41625593G>A uc003azo.2 + 16 1992 c.1938G>A c.(1936-1938)AAG>AAA p.K646K L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 646 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 AGGGGTCCAAGAAGCCCCTGC 0.557 NaN 0 0 0 0.020292 0 15 40 PARVB 29780 broad.mit.edu 37 22 44514968 44514968 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:44514968G>A uc003ben.2 + 4 376 c.324G>A c.(322-324)GTG>GTA p.V108V PARVB_uc003bem.2_Silent_p.V141V|PARVB_uc010gzn.2_Silent_p.V56V|PARVB_uc003beo.2_Silent_p.V71V NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 108 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) GGATCATTGTGAAGCAGCTGG 0.587 NaN 0 0 0 0.01441 0 48 149 FBLN1 2192 broad.mit.edu 37 22 45970446 45970446 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:45970446G>A uc003bgj.1 + 15 1900 c.1753G>A c.(1753-1755)GAT>AAT p.D585N NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 585 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCGCCCCAACGATGTCACATG 0.627 NaN 0 0 0 0.013537 0 12 47 PKDREJ 10343 broad.mit.edu 37 22 46655230 46655230 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:46655230C>G uc003bhh.2 - 1 3990 c.3990G>C c.(3988-3990)CAG>CAC p.Q1330H NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1330 Cytoplasmic (Potential).|PLAT. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAAGCCATTTCTGGCATATGA 0.418 NaN 0 0 0 0.01441 0 51 83 ZBED4 9889 broad.mit.edu 37 22 50277651 50277651 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:50277651C>A uc003bix.2 + 2 811 c.341C>A c.(340-342)TCC>TAC p.S114Y NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 114 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AACATGAGCTCCAGGAAGAAG 0.532 NaN 1 0 9.39395e-14 0.00632 1.28991e-13 26 67 PLXNB2 23654 broad.mit.edu 37 22 50722117 50722117 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:50722117C>A uc003bkv.3 - 15 2590 c.2484G>T c.(2482-2484)TTG>TTT p.L828F PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 828 Extracellular (Potential).|IPT/TIG 1. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTGGACGCCCAAATTGGACC 0.647 NaN 1 0 3.07112e-06 0.010729 4.04274e-06 12 34 ODF3B 440836 broad.mit.edu 37 22 50969699 50969699 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr22:50969699C>G uc003bmh.2 - 4 476 c.339G>C c.(337-339)GGG>GGC p.G113G TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.E90Q NM_001014440 NP_001014440 A8MYP8 ODF3B_HUMAN outer dense fiber of sperm tails 3B 113 0 ACGTCGCGTTCCCCGCTCGCT 0.677 NaN 0 0 0 0.016723 0 12 40 CHL1 10752 broad.mit.edu 37 3 424356 424356 + Splice_Site SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:424356T>A uc003bou.2 + 17 2399 c.2128_splice c.e17+2 p.A710_splice CHL1_uc003bot.2_Splice_Site_p.A726_splice|CHL1_uc003bow.1_Splice_Site_p.A710_splice|CHL1_uc011asi.1_Splice_Site_p.A726_splice|uc003box.1_RNA NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CACCAGCAGGTATGCAGGTTC 0.413 NaN 0 0 0 0.00308 0 7 14 ITPR1 3708 broad.mit.edu 37 3 4715070 4715070 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:4715070G>A uc003bqa.2 + 21 2803 c.2455G>A c.(2455-2457)GAC>AAC p.D819N ITPR1_uc010hca.1_Missense_Mutation_p.D804N|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D804N NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 819 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CGCCATTGACGAGTGAGCCTG 0.498 NaN 0 0 0 0.010818 0 27 141 BRPF1 7862 broad.mit.edu 37 3 9783835 9783835 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:9783835G>A uc003bse.2 + 6 2380 c.1981G>A c.(1981-1983)GAG>AAG p.E661K BRPF1_uc003bsf.2_Missense_Mutation_p.E661K|BRPF1_uc003bsg.2_Missense_Mutation_p.E661K|BRPF1_uc011ati.1_Missense_Mutation_p.E661K NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 661 Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.|Bromo. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) CCCTCTGTCTGAGGTAACCGA 0.557 NaN 0 0 0 0.014323 0 21 89 JAGN1 84522 broad.mit.edu 37 3 9934620 9934620 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:9934620C>G uc003btt.3 + 2 247 c.111C>G c.(109-111)ATC>ATG p.I37M CIDEC_uc003bto.2_Intron NM_032492 NP_115881 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 37 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Medulloblastoma(99;0.227) AGTATGAAATCAAGAAGCTGA 0.383 NaN 0 0 0 0.014758 0 5 86 RPL15 6138 broad.mit.edu 37 3 23959373 23959373 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:23959373A>G uc003ccn.2 + 2 59 c.23A>G c.(22-24)CAG>CGG p.Q8R NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Missense_Mutation_p.Q8R|RPL15_uc011awj.1_Missense_Mutation_p.Q8R|RPL15_uc003cco.2_Missense_Mutation_p.Q8R|RPL15_uc003ccp.2_Missense_Mutation_p.Q8R|RPL15_uc003ccq.2_Missense_Mutation_p.Q8R|RPL15_uc003ccr.2_Missense_Mutation_p.Q8R NM_002948 NP_002939 P61313 RL15_HUMAN ribosomal protein L15 8 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome ovary(1) 1 AAGTACATCCAGGAGCTATGG 0.493 NaN 0 0 0 0.007291 0 25 46 OXSM 54995 broad.mit.edu 37 3 25832554 25832554 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:25832554C>A uc003cdn.2 + 2 150 c.43C>A c.(43-45)CGT>AGT p.R15S NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.R15S NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 15 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 TACAAGCACTCGTCTTCTATG 0.388 NaN 1 0 2.89027e-11 0.014323 3.92963e-11 24 60 SLC4A7 9497 broad.mit.edu 37 3 27446455 27446455 + Splice_Site SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:27446455C>G uc003cdv.2 - 14 1986 c.1915_splice c.e14-1 p.S639_splice SLC4A7_uc011awu.1_Splice_Site|SLC4A7_uc011awv.1_Splice_Site|SLC4A7_uc003cdu.3_Splice_Site_p.S520_splice|SLC4A7_uc011aww.1_Splice_Site_p.S648_splice|SLC4A7_uc011awx.1_Splice_Site_p.S635_splice|SLC4A7_uc011awy.1_Splice_Site_p.S631_splice|SLC4A7_uc011awz.1_Splice_Site|SLC4A7_uc011axa.1_Splice_Site_p.S520_splice|SLC4A7_uc011axb.1_Splice_Site_p.S635_splice|SLC4A7_uc010hfl.2_Splice_Site_p.S189_splice|SLC4A7_uc003cdw.2_Splice_Site_p.S515_splice NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 CTATTGCACTCTGTTTAAGGA 0.353 NaN 0 0 0 0.008291 0 9 29 ZNF620 253639 broad.mit.edu 37 3 40553923 40553923 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:40553923C>G uc003ckk.2 + 4 331 c.182C>G c.(181-183)TCC>TGC p.S61C ZNF620_uc003ckl.2_Intron NM_175888 NP_787084 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GTTCTGGTCTCCCAGCTGGAG 0.572 NaN 0 0 0 0.004656 0 25 12 ULK4 54986 broad.mit.edu 37 3 41942279 41942280 + Missense_Mutation DNP TC TC AA TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:41942279_41942280TC>AA uc003ckv.3 - 13 1425_1426 c.1224_1225GA>TT c.(1222-1227)CAGATG>CATTTG p.408_409QM>HL ULK4_uc003ckw.2_Missense_Mutation_p.408_409QM>HL|ULK4_uc003ckx.1_Missense_Mutation_p.408_409QM>HL NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 408_409 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGCTCTCTCATCTGGGATTCCA 0.411 NaN 0 0 0 0.004672 0 50 179 ZNF445 353274 broad.mit.edu 37 3 44488486 44488486 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:44488486C>T uc003cnf.2 - 8 3025 c.2677G>A c.(2677-2679)GAG>AAG p.E893K ZNF445_uc011azv.1_Missense_Mutation_p.E881K|ZNF445_uc011azw.1_Missense_Mutation_p.E893K NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 893 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) AAAGGTCTCTCTGTAGAGTGG 0.453 NaN 0 0 0 0.007291 0 27 95 ZNF502 91392 broad.mit.edu 37 3 44763893 44763893 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:44763893C>T uc011baa.1 + 4 1839 c.1584C>T c.(1582-1584)TTC>TTT p.F528F ZNF502_uc003cns.2_Silent_p.F528F|ZNF502_uc011bab.1_Silent_p.F528F|ZNF502_uc003cnt.2_Silent_p.F528F NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 528 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GAAAGTTCTTCAGACATAGTT 0.413 NaN 0 0 0 0.004482 0 9 41 DHX30 22907 broad.mit.edu 37 3 47887268 47887268 + Nonsense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:47887268G>T uc003cru.2 + 10 1444 c.1018G>T c.(1018-1020)GAG>TAG p.E340* DHX30_uc003crt.2_Nonsense_Mutation_p.E301*|DHX30_uc010hjr.1_Nonsense_Mutation_p.E368* NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 340 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGAGCTGGGTGAGACCCAGCG 0.597 NaN 1 0 6.05902e-23 0.017118 8.50317e-23 35 26 COL7A1 1294 broad.mit.edu 37 3 48612135 48612135 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:48612135C>A uc003ctz.2 - 77 6369 c.6368G>T c.(6367-6369)GGT>GTT p.G2123V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2123 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCTTGGTCACCATTGCTGCC 0.597 NaN 1 0 2.17888e-05 0.006214 2.82776e-05 9 47 CELSR3 1951 broad.mit.edu 37 3 48698069 48698069 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:48698069C>A uc003cul.2 - 1 2280 c.1999G>T c.(1999-2001)GGT>TGT p.G667C CELSR3_uc003cuf.1_Missense_Mutation_p.G737C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 667 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACTGAGTGACCCAAGGGAGCA 0.517 NaN 1 0 5.3912e-06 0.006122 7.052e-06 17 42 USP4 7375 broad.mit.edu 37 3 49363263 49363263 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:49363263G>A uc003cwq.2 - 4 455 c.376C>T c.(376-378)CTG>TTG p.L126L USP4_uc003cwr.2_Silent_p.L126L NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 126 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TTGACAAACAGGCCATGCTCC 0.498 NaN 0 0 0 0.007835 0 35 119 RHOA 387 broad.mit.edu 37 3 49400019 49400019 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:49400019G>C uc003cwu.2 - 4 594 c.318C>G c.(316-318)TTC>TTG p.F106L RHOA_uc010hku.2_Missense_Mutation_p.F25L NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 106 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) CGTTGGGACAGAAATGCTTGA 0.443 NaN 0 0 0 0.01441 0 46 46 DOCK3 1795 broad.mit.edu 37 3 51112865 51112865 + Silent SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:51112865T>C uc011bds.1 + 7 566 c.543T>C c.(541-543)TAT>TAC p.Y181Y NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 181 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGATCTCTATAAGATGGTAA 0.393 NaN 0 0 0 0.00308 0 8 0 COL8A1 1295 broad.mit.edu 37 3 99513764 99513764 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:99513764G>A uc003dtg.1 + 5 1264 c.1019G>A c.(1018-1020)GGG>GAG p.G340E COL8A1_uc003dth.1_Missense_Mutation_p.G340E|COL8A1_uc003dti.1_Missense_Mutation_p.G341E NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 340 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 GGACTGCCAGGGCTACCAGGA 0.627 NaN 0 0 0 0.009096 0 4 62 GPR128 84873 broad.mit.edu 37 3 100362453 100362453 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:100362453C>G uc003duc.2 + 8 1190 c.922C>G c.(922-924)CAG>GAG p.Q308E GPR128_uc011bhc.1_Intron NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 308 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 GACTGAGCTTCAGGTCTTGCT 0.363 NaN 0 0 0 0.013114 0 45 28 SIDT1 54847 broad.mit.edu 37 3 113327035 113327035 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:113327035G>T uc003eak.2 + 16 2224 c.1573G>T c.(1573-1575)GCC>TCC p.A525S SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.A525S|SIDT1_uc011big.1_Missense_Mutation_p.A278S|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 525 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CCATCGGAGAGCCCTGGAAGC 0.542 NaN 1 0 1.64293e-13 0.01892 2.25223e-13 26 125 NR1I2 8856 broad.mit.edu 37 3 119535943 119535943 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:119535943C>A uc003edj.2 + 9 3028 c.1189C>A c.(1189-1191)CTC>ATC p.L397I NR1I2_uc003edi.2_Missense_Mutation_p.L360I|NR1I2_uc003edk.2_Missense_Mutation_p.L436I|NR1I2_uc003edl.2_Missense_Mutation_p.L285I NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 397 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CATGGCTATGCTCACCGAGCT 0.592 NaN 1 0 3.05275e-18 0.013114 4.25534e-18 44 91 POLQ 10721 broad.mit.edu 37 3 121209029 121209029 + Missense_Mutation SNP C C T rs149007312 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:121209029C>T uc003eee.3 - 16 2878 c.2749G>A c.(2749-2751)GAA>AAA p.E917K POLQ_uc003eed.2_Missense_Mutation_p.E89K NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 917 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TCCTTTACTTCGGACTCACTA 0.338 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.007835 0 42 46 ZNF148 7707 broad.mit.edu 37 3 124951899 124951899 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:124951899C>G uc003ehx.3 - 9 2157 c.1671G>C c.(1669-1671)GAG>GAC p.E557D SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E557D|ZNF148_uc010hsa.2_Missense_Mutation_p.E557D|ZNF148_uc003eia.3_Missense_Mutation_p.E557D|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 557 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 TGAAGGATATCTCATGCTGTC 0.398 NaN 0 0 0 0.004482 0 8 44 C3orf22 152065 broad.mit.edu 37 3 126272147 126272147 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:126272147G>A uc003ejb.2 - 2 416 c.87C>T c.(85-87)TAC>TAT p.Y29Y NM_152533 NP_689746 Q8N5N4 CC022_HUMAN hypothetical protein LOC152065 29 0 GBM - Glioblastoma multiforme(114;0.147) TCCCGCACCTGTACGGAAACT 0.567 NaN 0 0 0 0.003163 0 15 638 NEK11 79858 broad.mit.edu 37 3 130828671 130828671 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:130828671C>T uc003eny.2 + 5 687 c.361C>T c.(361-363)CAG>TAG p.Q121* NEK11_uc003enx.2_Nonsense_Mutation_p.Q121*|NEK11_uc003eoa.2_Nonsense_Mutation_p.Q121*|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Nonsense_Mutation_p.Q121*|NEK11_uc003enw.1_Nonsense_Mutation_p.Q121*|NEK11_uc011blm.1_Nonsense_Mutation_p.Q121*|NEK11_uc010hto.1_5'UTR NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 121 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 CGATAAAATTCAGGAATATAA 0.338 NaN 0 0 0 0.013726 0 31 24 PLCH1 23007 broad.mit.edu 37 3 155203300 155203300 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:155203300T>A uc011bok.1 - 22 3120 c.2843A>T c.(2842-2844)GAG>GTG p.E948V PLCH1_uc011boj.1_Missense_Mutation_p.E948V|PLCH1_uc011bol.1_Missense_Mutation_p.E910V NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 948 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCTTGTGGCCTCGGACACAGA 0.522 NaN 0 0 0 0.013114 0 43 132 SI 6476 broad.mit.edu 37 3 164750379 164750379 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:164750379T>A uc003fei.2 - 24 2729 c.2667A>T c.(2665-2667)GAA>GAT p.E889D NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 889 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCACTCTAACTTCTGTAACAC 0.348 NaN HNSCC(35;0.089) 0 0 0 0.010729 0 10 8 SERPINI2 5276 broad.mit.edu 37 3 167183097 167183097 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:167183097C>G uc003fer.1 - 4 821 c.763G>C c.(763-765)GAA>CAA p.E255Q SERPINI2_uc003fes.1_Missense_Mutation_p.E265Q|SERPINI2_uc003fet.1_Missense_Mutation_p.E255Q NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 255 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TCCATACCTTCTGCAGGAAGT 0.358 NaN 0 0 0 0.010729 0 11 102 DCUN1D1 54165 broad.mit.edu 37 3 182681826 182681826 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:182681826C>A uc003fld.1 - 3 281 c.232G>T c.(232-234)GAG>TAG p.E78* DCUN1D1_uc011bqn.1_5'UTR NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 78 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ATTTTATTCTCATCTTGAGGG 0.353 NaN 1 0 2.7689e-08 0.001984 3.69782e-08 7 48 C3orf70 285382 broad.mit.edu 37 3 184801154 184801154 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:184801154C>T uc003fpd.2 - 2 585 c.394G>A c.(394-396)GAC>AAC p.D132N NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 132 0 TGATAGTTGTCAATAAAAAGG 0.468 NaN 0 0 0 0.010504 0 20 113 ETV5 2119 broad.mit.edu 37 3 185798944 185798944 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:185798944G>C uc003fpz.2 - 6 500 c.253C>G c.(253-255)CCA>GCA p.P85A ETV5_uc003fpy.2_Missense_Mutation_p.P127A NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 85 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ATCTTGGTTGGAGGTGGGGCA 0.512 NaN T TMPRSS2|SCL45A3 Prostate 0 0 0 0.01441 0 85 104 LPP 4026 broad.mit.edu 37 3 188327375 188327375 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr3:188327375G>A uc003frs.1 + 6 1102 c.856G>A c.(856-858)GGG>AGG p.G286R LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.G286R|LPP_uc003frt.2_Missense_Mutation_p.G286R|LPP_uc011bsj.1_Missense_Mutation_p.G123R NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 286 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GCCGGAGCCTGGGTATGGGTA 0.567 NaN T HMGA2|MLL|C12orf9 lipoma|leukemia 0 0 0 0.010729 0 11 96 PIGG 54872 broad.mit.edu 37 4 494383 494383 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:494383G>A uc003gak.3 + 2 489 c.353G>A c.(352-354)CGA>CAA p.R118Q PIGG_uc003gaj.3_Missense_Mutation_p.R118Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.R118Q|PIGG_uc003gal.3_Missense_Mutation_p.R29Q|ZNF721_uc003gag.2_5'Flank|ZNF721_uc010ibe.2_5'Flank|ZNF721_uc003gah.1_5'Flank|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_Missense_Mutation_p.R29Q|PIGG_uc003gan.2_Missense_Mutation_p.R29Q NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 118 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 ACTATGCCTCGAATCAAGGTA 0.408 NaN 0 0 0 0.01892 0 23 18 PDE6B 5158 broad.mit.edu 37 4 628477 628477 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:628477C>T uc003gap.2 + 2 533 c.480C>T c.(478-480)TTC>TTT p.F160F PDE6B_uc003gao.3_Silent_p.F160F NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 160 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 GCCCTCACTTCAGCTCATTTG 0.567 NaN 0 0 0 0.005524 0 35 76 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 C G C C Valid Somatic Phase_I WXS RNASeq;WGS Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.013726 0 22 15 OTOP1 133060 broad.mit.edu 37 4 4199019 4199019 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:4199019C>G uc003ghp.1 - 5 1572 c.1542G>C c.(1540-1542)GAG>GAC p.E514D NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 514 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCTCCTGCTTCTCCTCCTCCT 0.577 NaN 0 0 0 0.014323 0 20 70 ZBTB49 166793 broad.mit.edu 37 4 4314802 4314802 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:4314802C>G uc003ghu.2 + 5 1512 c.1337C>G c.(1336-1338)TCT>TGT p.S446C ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CGACGGCATTCTGGTGAAAAA 0.413 NaN 0 0 0 0.01892 0 19 47 EVC2 132884 broad.mit.edu 37 4 5586480 5586480 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:5586480G>C uc003gij.2 - 17 2981 c.2927C>G c.(2926-2928)TCC>TGC p.S976C EVC2_uc011bwb.1_Missense_Mutation_p.S416C|EVC2_uc003gik.2_Missense_Mutation_p.S896C NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 976 integral to membrane large_intestine(3)|ovary(2) 5 GGTCACCCGGGACGCCTTCTG 0.607 NaN 0 0 0 0.006122 0 16 35 TXK 7294 broad.mit.edu 37 4 48106974 48106974 + Splice_Site SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:48106974T>C uc003gxx.3 - 6 533 c.447_splice c.e6-1 p.E149_splice TXK_uc003gxy.1_Splice_Site_p.E149_splice NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TGGTACCACCTGTAAAAGCaa 0.274 NaN 0 0 0 0.006214 0 10 19 LPHN3 23284 broad.mit.edu 37 4 62849142 62849142 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:62849142C>A uc010ihh.2 + 16 3026 c.2853C>A c.(2851-2853)TTC>TTA p.F951L LPHN3_uc003hcq.3_Missense_Mutation_p.F951L|LPHN3_uc003hct.2_Missense_Mutation_p.F344L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 938 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATTTCTTCTTCTTGGCTGCCT 0.433 NaN 1 0 0.00024832 0.009096 0.000317298 4 16 COPS4 51138 broad.mit.edu 37 4 83984325 83984325 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:83984325G>A uc003hoa.2 + 7 951 c.812G>A c.(811-813)AGG>AAG p.R271K COPS4_uc003hob.2_Missense_Mutation_p.R271K|COPS4_uc010ijw.2_Missense_Mutation_p.R271K|COPS4_uc010ijx.2_Missense_Mutation_p.R271K NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 271 PCI. cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) TATCTAGATAGGATCATCAGA 0.428 NaN 0 0 0 0.007413 0 20 45 WDFY3 23001 broad.mit.edu 37 4 85634326 85634326 + Silent SNP C C A rs150169644 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:85634326C>A uc003hpd.2 - 51 8436 c.8028G>T c.(8026-8028)ACG>ACT p.T2676T WDFY3_uc003hpe.1_Silent_p.T287T NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2676 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCTCCACACTCGTGTTTGGTC 0.383 NaN 1 0 1.85257e-25 0.01441 2.60873e-25 59 158 HSD17B13 345275 broad.mit.edu 37 4 88238286 88238286 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:88238286C>A uc003hqo.2 - 3 471 c.408G>T c.(406-408)GAG>GAT p.E136D HSD17B13_uc010ikk.2_Missense_Mutation_p.E100D NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 136 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TCTTGGTAATCTCTTCATCCT 0.403 NaN 1 0 0.00400662 0.004007 0.00503412 15 54 PDHA2 5161 broad.mit.edu 37 4 96761707 96761707 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:96761707C>T uc003htr.3 + 1 469 c.406C>T c.(406-408)CTG>TTG p.L136L NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 136 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCTCGCAGAGCTGACGGGAAG 0.517 NaN 0 0 0 0.010504 0 20 56 MANBA 4126 broad.mit.edu 37 4 103571706 103571706 + Missense_Mutation SNP G G C rs141009346 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:103571706G>C uc003hwg.2 - 13 1957 c.1857C>G c.(1855-1857)ATC>ATG p.I619M MANBA_uc011ces.1_Missense_Mutation_p.I562M NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 619 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) GAGTAAGGTAGATGGTATCTT 0.363 NaN 0 0 0 0.00308 0 7 32 KIAA1109 84162 broad.mit.edu 37 4 123117944 123117944 + Silent SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:123117944A>C uc003ieh.2 + 10 1252 c.1207A>C c.(1207-1209)AGG>CGG p.R403R KIAA1109_uc003iei.1_Silent_p.R157R|KIAA1109_uc010ins.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 403 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TACCAAAAATAGGGtaattat 0.284 NaN 0 0 0 0.010729 0 12 27 PDGFC 56034 broad.mit.edu 37 4 157684305 157684305 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:157684305G>C uc003iph.1 - 6 1466 c.975C>G c.(973-975)ACC>ACG p.T325T PDGFC_uc003ipi.1_Silent_p.T162T|PDGFC_uc011cis.1_Silent_p.T162T|PDGFC_uc011cir.1_Silent_p.T169T NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 325 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) GGGCCACGTCGGTGAGTGATT 0.527 NaN 0 0 0 0.010729 0 10 27 TLL1 7092 broad.mit.edu 37 4 167020652 167020652 + Silent SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:167020652G>T uc003irh.1 + 20 3527 c.2880G>T c.(2878-2880)GTG>GTT p.V960V TLL1_uc011cjn.1_Silent_p.V983V|TLL1_uc011cjo.1_Silent_p.V784V NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 960 CUB 5. 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) CAACAGCTGTGGGGCTTGGTC 0.433 NaN 1 0 4.36969e-10 0.016723 5.90229e-10 13 37 CBR4 84869 broad.mit.edu 37 4 169931103 169931103 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:169931103G>A uc003iry.2 - 1 320 c.138C>T c.(136-138)CTC>CTT p.L46L CBR4_uc011cjy.1_RNA|CBR4_uc003irz.1_Silent_p.L46L NM_032783 NP_116172 Q8N4T8 CBR4_HUMAN carbonic reductase 4 46 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding 0 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) ACCTACCGCCGAGGTCACCGG 0.587 NaN OREG0016397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 10 26 VEGFC 7424 broad.mit.edu 37 4 177608517 177608517 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr4:177608517G>C uc003ius.1 - 6 1399 c.969C>G c.(967-969)CTC>CTG p.L323L NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 323 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GGCTGGGGAAGAGTTTGTTTT 0.502 NaN 0 0 0 0.010818 0 28 75 SLC12A7 10723 broad.mit.edu 37 5 1087072 1087072 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:1087072C>T uc003jbu.2 - 6 687 c.621G>A c.(619-621)CTG>CTA p.L207L NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 207 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ACGTCGTGCCCAGGTAGAAGC 0.587 NaN 0 0 0 0.007413 0 19 82 IRX2 153572 broad.mit.edu 37 5 2748596 2748596 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:2748596C>A uc003jda.2 - 3 1468 c.1226G>T c.(1225-1227)CGG>CTG p.R409L IRX2_uc003jdb.2_Missense_Mutation_p.R409L NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 409 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) AGAGTTGTACCGCAGGAGACC 0.716 NaN 1 0 8.16721e-17 0.010818 1.13274e-16 31 67 ADAMTS16 170690 broad.mit.edu 37 5 5190099 5190099 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:5190099A>T uc003jdl.2 + 7 1201 c.1063A>T c.(1063-1065)AGT>TGT p.S355C ADAMTS16_uc003jdk.1_Missense_Mutation_p.S355C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S355C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 355 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ACTGGTGATAAGTCACCACGC 0.473 NaN 0 0 0 0.013537 0 11 110 ADCY2 108 broad.mit.edu 37 5 7695884 7695884 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:7695884G>A uc003jdz.1 + 6 956 c.889G>A c.(889-891)GTT>ATT p.V297I ADCY2_uc011cmo.1_Missense_Mutation_p.V117I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 297 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGCTGACATCGTTGGCTTTAC 0.408 NaN 0 0 0 0.015359 0 34 57 FASTKD3 79072 broad.mit.edu 37 5 7867275 7867275 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:7867275G>C uc003jeb.2 - 2 1059 c.922C>G c.(922-924)CAA>GAA p.Q308E FASTKD3_uc011cmp.1_Missense_Mutation_p.Q10E|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 308 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 GCTTGACTTTGATCAAGAACC 0.393 NaN 0 0 0 0.005443 0 25 204 CTNND2 1501 broad.mit.edu 37 5 11098851 11098851 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:11098851C>A uc003jfa.1 - 15 2618 c.2473G>T c.(2473-2475)GTA>TTA p.V825L CTNND2_uc010itt.2_Missense_Mutation_p.V734L|CTNND2_uc011cmy.1_Missense_Mutation_p.V488L|CTNND2_uc011cmz.1_Missense_Mutation_p.V392L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.V392L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 825 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 AGAGGTCCTACTCCATCCCAC 0.468 NaN 1 0 3.86212e-05 0.008291 4.98105e-05 9 83 TRIO 7204 broad.mit.edu 37 5 14381300 14381300 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:14381300C>G uc003jff.2 + 21 3515 c.3509C>G c.(3508-3510)TCC>TGC p.S1170C TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S1121C|TRIO_uc003jfh.1_Missense_Mutation_p.S819C NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1170 Spectrin 4. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCCACGGGCTCCAGTATACAG 0.512 NaN 0 0 0 0.01441 0 70 130 TRIO 7204 broad.mit.edu 37 5 14387928 14387928 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:14387928G>C uc003jff.2 + 23 3859 c.3853G>C c.(3853-3855)GAG>CAG p.E1285Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1236Q|TRIO_uc003jfh.1_Missense_Mutation_p.E934Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1285 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) ACTTAATGAAGAGAAGCGGAA 0.443 NaN 0 0 0 0.016723 0 13 106 MARCH11 441061 broad.mit.edu 37 5 16177939 16177939 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:16177939G>T uc003jfo.2 - 2 802 c.589C>A c.(589-591)CAG>AAG p.Q197K uc003jfp.2_5'Flank NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 197 RING-CH-type. cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 AGGCACAGCTGATGTGTATAC 0.423 NaN 1 0 2.32078e-09 0.003163 3.11444e-09 14 128 CDH12 1010 broad.mit.edu 37 5 21802336 21802336 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:21802336A>T uc010iuc.2 - 7 1654 c.1196T>A c.(1195-1197)GTA>GAA p.V399E CDH12_uc011cno.1_Missense_Mutation_p.V359E|CDH12_uc003jgk.2_Missense_Mutation_p.V399E NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 399 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GATGGTCCCTACCGGAGTGTC 0.478 NaN HNSCC(59;0.17) 0 0 0 0.008871 0 19 17 PRDM9 56979 broad.mit.edu 37 5 23526574 23526574 + Silent SNP G G A rs112001060 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:23526574G>A uc003jgo.2 + 11 1559 c.1377G>A c.(1375-1377)AGG>AGA p.R459R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 459 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 TCAAAGAAAGGTCCAAACTCT 0.468 NaN HNSCC(3;0.000094) 0 0 0 0.005443 0 29 17 MTMR12 54545 broad.mit.edu 37 5 32239280 32239280 + Splice_Site SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:32239280C>G uc003jhq.2 - 13 1342 c.1172_splice c.e13-1 p.E391_splice MTMR12_uc010iuk.2_Splice_Site_p.E391_splice|MTMR12_uc010iul.2_Splice_Site_p.E391_splice NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 cytoplasm phosphatase activity ovary(1) 1 GCATTCTCCTCTAGGAGAGGC 0.483 NaN 0 0 0 0.003163 0 14 90 OSMR 9180 broad.mit.edu 37 5 38917668 38917668 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:38917668G>A uc003jln.1 + 10 1673 c.1306G>A c.(1306-1308)GTC>ATC p.V436I OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 436 Fibronectin type-III 2.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) GGCCCCTGATGTCTGGAGAAT 0.408 NaN 0 0 0 0.012319 0 22 174 PTGER4 5734 broad.mit.edu 37 5 40692210 40692210 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:40692210C>G uc003jlz.2 + 3 1789 c.1197C>G c.(1195-1197)CTC>CTG p.L399L NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 399 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 TGCCAGACCTCTCACTGCCAG 0.572 NaN 0 0 0 0.016723 0 12 124 CARD6 84674 broad.mit.edu 37 5 40843437 40843437 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:40843437G>C uc003jmg.2 + 2 542 c.467G>C c.(466-468)AGG>ACG p.R156T NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 156 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 ACTAGTTATAGGGAAACAGCT 0.418 NaN 0 0 0 0.009096 0 4 73 HEXB 3074 broad.mit.edu 37 5 74014165 74014165 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:74014165G>C uc003kdf.3 + 10 1336 c.1219G>C c.(1219-1221)GAG>CAG p.E407Q HEXB_uc003kdd.2_Missense_Mutation_p.E182Q|HEXB_uc010izh.2_RNA|HEXB_uc003kdg.1_RNA|HEXB_uc010izi.1_RNA NM_000521 NP_000512 P07686 HEXB_HUMAN hexosaminidase B preproprotein 407 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TGTCTGGCAGGAGGTTTTTGA 0.328 NaN 0 0 0 0.020292 0 11 44 GFM2 84340 broad.mit.edu 37 5 74054712 74054712 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:74054712C>T uc003kdh.1 - 5 570 c.266G>A c.(265-267)AGA>AAA p.R89K GFM2_uc003kdi.1_Missense_Mutation_p.R89K|GFM2_uc010izj.1_Missense_Mutation_p.R121K|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R89K|GFM2_uc010izl.1_Missense_Mutation_p.R89K NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 89 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GTACAATATTCTTTCTGTGGT 0.358 NaN 0 0 0 0.009096 0 3 32 POC5 134359 broad.mit.edu 37 5 74990490 74990490 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:74990490C>T uc003keh.3 - 6 877 c.680G>A c.(679-681)AGA>AAA p.R227K POC5_uc010izu.2_Missense_Mutation_p.R110K|POC5_uc003keg.3_Missense_Mutation_p.R202K NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 227 cell cycle centriole lung(1) 1 CTCATCTTTTCTCCCAATGGA 0.294 NaN 0 0 0 0.014758 0 5 25 GPR98 84059 broad.mit.edu 37 5 90281315 90281315 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:90281315T>A uc003kju.2 + 85 18224 c.18128T>A c.(18127-18129)ATC>AAC p.I6043N GPR98_uc003kjt.2_Missense_Mutation_p.I3749N|GPR98_uc003kjw.2_Missense_Mutation_p.I1704N|GPR98_uc003kjx.2_Missense_Mutation_p.I71N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6043 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGTCACAGATCTATGGACTC 0.423 NaN 0 0 0 0.004007 0 14 16 TRIM36 55521 broad.mit.edu 37 5 114473227 114473227 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:114473227C>G uc003kqs.2 - 6 1463 c.954G>C c.(952-954)TTG>TTC p.L318F TRIM36_uc011cwc.1_Missense_Mutation_p.L306F|TRIM36_uc003kqt.2_Missense_Mutation_p.L163F NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 318 Potential. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CAATTGCTTTCAAAACAGATG 0.368 NaN 0 0 0 0.00623 0 40 76 LRRTM2 26045 broad.mit.edu 37 5 138209627 138209627 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:138209627C>T uc011cyz.1 - 2 1080 c.623G>A c.(622-624)AGA>AAA p.R208K CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.R74K|CTNNA1_uc003ldl.2_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 208 Extracellular (Potential).|LRR 7. cell junction|integral to membrane|postsynaptic membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTGAAGCTCTCTCAGTTTAAT 0.448 NaN 0 0 0 0.01441 0 159 17 DND1 373863 broad.mit.edu 37 5 140052881 140052881 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:140052881C>T uc003lgt.2 - 2 161 c.117G>A c.(115-117)CAG>CAA p.Q39Q NM_194249 NP_919225 Q8IYX4 DND1_HUMAN dead end homolog 1 39 multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATACTTCCTCTGCCCGTTCA 0.667 NaN 0 0 0 0.007291 0 25 71 PCDHA2 56146 broad.mit.edu 37 5 140176232 140176232 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:140176232C>T uc003lhd.2 + 1 1789 c.1683C>T c.(1681-1683)AAC>AAT p.N561N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N561N|PCDHA2_uc011czy.1_Silent_p.N561N NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 561 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGACAACGCGCCGGCAC 0.692 NaN 0 0 0 0.00632 0 25 71 PCDHA4 56144 broad.mit.edu 37 5 140187223 140187223 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:140187223C>G uc003lhi.2 + 1 552 c.451C>G c.(451-453)CGG>GGG p.R151G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R151G|PCDHA4_uc011daa.1_Missense_Mutation_p.R151G NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 151 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTGACTCTCGGTTTCCACT 0.542 NaN 0 0 0 0.014758 0 5 87 PCDHA9 9752 broad.mit.edu 37 5 140229336 140229336 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:140229336C>T uc003lhu.2 + 1 1980 c.1256C>T c.(1255-1257)TCC>TTC p.S419F 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.S419F NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 419 Cadherin 4.|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) GAGAGTGTGTCCGCCTACGAG 0.637 NaN 0 0 0 0.012213 0 33 101 PCDHAC2 56134 broad.mit.edu 37 5 140348186 140348186 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:140348186C>A uc003lii.2 + 1 2075 c.1835C>A c.(1834-1836)TCA>TAA p.S612* 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_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.S612* NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 612 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTATGGACTCAGACTCTGGG 0.507 NaN 1 0 2.35188e-11 0.006122 3.20289e-11 17 31 PCDHGA10 56106 broad.mit.edu 37 5 140793480 140793480 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:140793480C>T uc003lkl.1 + 1 738 c.738C>T c.(736-738)TTC>TTT p.F246F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.F246F NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 246 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCGGTCTTCACCTTGCCAG 0.582 NaN 0 0 0 0.008291 0 9 34 JAKMIP2 9832 broad.mit.edu 37 5 147015815 147015815 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:147015815G>A uc003loq.1 - 12 2029 c.1647C>T c.(1645-1647)TTC>TTT p.F549F JAKMIP2_uc011dbx.1_Silent_p.F507F|JAKMIP2_uc003lor.1_Intron|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.F549F NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 549 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCTTAATGAAAAGTTGTT 0.468 NaN 0 0 0 0.001984 0 6 14 FAM71B 153745 broad.mit.edu 37 5 156589870 156589870 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:156589870G>T uc003lwn.2 - 2 1506 c.1406C>A c.(1405-1407)TCC>TAC p.S469Y NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 469 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCAGATGCGGACCGGTGGGA 0.532 NaN 1 0 2.27054e-47 0.01441 3.22472e-47 130 22 ODZ2 57451 broad.mit.edu 37 5 167625892 167625892 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:167625892A>T uc010jjd.2 + 16 2908 c.2908A>T c.(2908-2910)ACT>TCT p.T970S ODZ2_uc003lzr.3_Missense_Mutation_p.T747S|ODZ2_uc003lzt.3_Missense_Mutation_p.T343S|ODZ2_uc010jje.2_Missense_Mutation_p.T241S NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGCTTCCTTGACTCTACACTT 0.547 NaN 0 0 0 0.01441 0 45 26 CDHR2 54825 broad.mit.edu 37 5 176008383 176008383 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:176008383C>G uc003mem.1 + 17 1924 c.1858C>G c.(1858-1860)CTG>GTG p.L620V CDHR2_uc003men.1_Missense_Mutation_p.L620V NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 620 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CAACAGCCGTCTGCTCTTCAA 0.632 NaN 0 0 0 0.019004 0 34 9 UNC5A 90249 broad.mit.edu 37 5 176304243 176304243 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:176304243G>A uc003mey.2 + 9 1621 c.1429G>A c.(1429-1431)GAG>AAG p.E477K NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 477 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGATCTATGAGATCTACCT 0.642 NaN 0 0 0 0.021523 0 23 45 UNC5A 90249 broad.mit.edu 37 5 176304245 176304245 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:176304245G>A uc003mey.2 + 9 1623 c.1431G>A c.(1429-1431)GAG>GAA p.E477E NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 477 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGATCTATGAGATCTACCTCA 0.642 NaN 0 0 0 0.021523 0 24 42 FAM193B 54540 broad.mit.edu 37 5 176952002 176952002 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:176952002C>G uc003mhs.3 - 8 2970 c.1381G>C c.(1381-1383)GAG>CAG p.E461Q FAM193B_uc003mhr.2_5'UTR|FAM193B_uc003mht.2_Missense_Mutation_p.E120Q|FAM193B_uc003mhu.2_Missense_Mutation_p.E173Q|FAM193B_uc003mhv.2_Missense_Mutation_p.E120Q|FAM193B_uc003mhw.2_RNA NM_019057 NP_061930 E9PET5 E9PET5_HUMAN hypothetical protein LOC54540 494 0 ATGCTGAGCTCACACACACTG 0.572 NaN 0 0 0 0.009096 0 4 91 FAM153C 653316 broad.mit.edu 37 5 177468711 177468711 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr5:177468711G>A uc011dge.1 + 7 352 c.151G>A c.(151-153)GAG>AAG p.E51K FAM153C_uc003mig.1_Missense_Mutation_p.E51K NM_001079527 NP_001072995 hypothetical protein LOC653316 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAAGACCTGGAGGAGCATCT 0.522 NaN 0 0 0 0.01441 0 61 168 EXOC2 55770 broad.mit.edu 37 6 592509 592509 + Silent SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:592509G>C uc003mtd.2 - 11 1286 c.1152C>G c.(1150-1152)CTC>CTG p.L384L EXOC2_uc003mte.2_Silent_p.L384L|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 384 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AACTGTGCATGAGCTGAAGGA 0.468 NaN 0 0 0 0.007413 0 19 46 HIST1H4D 8360 broad.mit.edu 37 6 26188994 26188994 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:26188994C>T uc003ngu.2 - 1 311 c.311G>A c.(310-312)TGA>TAA p.*104* NM_003539 NP_003530 P62805 H4_HUMAN histone cluster 1, H4d 104 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) GAGGTAAGCTCAGCCGCCGAA 0.537 NaN 0 0 0 0.01892 0 22 69 BTN3A1 11119 broad.mit.edu 37 6 26413833 26413833 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:26413833C>T uc003nhv.2 + 10 1823 c.1455C>T c.(1453-1455)TTC>TTT p.F485F BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.F433F|BTN3A1_uc010jqj.2_3'UTR NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 485 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 TTCATACTTTCCTGGACGTCT 0.463 NaN 0 0 0 0.00632 0 29 127 BTN3A1 11119 broad.mit.edu 37 6 26413848 26413848 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:26413848C>G uc003nhv.2 + 10 1838 c.1470C>G c.(1468-1470)TTC>TTG p.F490L BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.F438L|BTN3A1_uc010jqj.2_3'UTR NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 490 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 ACGTCTCCTTCTCTGAGGCTC 0.458 NaN 0 0 0 0.009535 0 32 113 BAT2 7916 broad.mit.edu 37 6 31600510 31600510 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:31600510C>G uc003nvb.3 + 16 4309 c.4060C>G c.(4060-4062)CCT>GCT p.P1354A BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P1354A NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1354 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 TGTGGGAACTCCTGGGGGAGG 0.582 NaN 0 0 0 0.016522 0 24 89 BAT2 7916 broad.mit.edu 37 6 31600529 31600529 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:31600529G>C uc003nvb.3 + 16 4328 c.4079G>C c.(4078-4080)GGA>GCA p.G1360A BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G1360A NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1360 4 X 57 AA type A repeats.|Poly-Gly. cytoplasm|nucleus protein binding 0 GGTGGAGGTGGAGCCGTACCA 0.592 NaN 0 0 0 0.01441 0 85 49 RXRB 6257 broad.mit.edu 37 6 33165552 33165552 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:33165552G>A uc003odb.2 - 4 986 c.807C>T c.(805-807)GGC>GGT p.G269G RXRB_uc003odc.2_Silent_p.G269G|RXRB_uc003odd.2_Silent_p.G173G|RXRB_uc011dqr.1_Silent_p.G79G|RXRB_uc011dqs.1_Silent_p.G152G|RXRB_uc003ode.1_Silent_p.G133G|RXRB_uc011dqt.1_Silent_p.G269G|RXRB_uc011dqu.1_Silent_p.G173G NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 269 Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CCCTCTTCATGCCAGTGGCCA 0.577 NaN 0 0 0 0.00308 0 7 64 DEF6 50619 broad.mit.edu 37 6 35265694 35265694 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:35265694G>C uc003okk.2 + 1 100 c.61G>C c.(61-63)GAG>CAG p.E21Q DEF6_uc010jvs.2_Missense_Mutation_p.E21Q|DEF6_uc010jvt.2_5'UTR NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 21 cytoplasm|nucleus|plasma membrane 0 GCTGGACGTGGAGAAGAGTGG 0.672 NaN 0 0 0 0.004482 0 8 37 TULP1 7287 broad.mit.edu 37 6 35471540 35471540 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:35471540G>A uc003okv.3 - 12 1210 c.1198C>T c.(1198-1200)CGG>TGG p.R400W TULP1_uc003okw.3_Missense_Mutation_p.R347W NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 400 R -> W (in LCA15). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 AGCTCCTGCCGAAGGCTTGCC 0.597 NaN 0 0 0 0.014323 0 21 7 PNPLA1 285848 broad.mit.edu 37 6 36259282 36259282 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:36259282G>A uc010jwf.2 + 2 391 c.391G>A c.(391-393)GAG>AAG p.E131K PNPLA1_uc003olw.1_Missense_Mutation_p.E36K|PNPLA1_uc010jwe.1_Missense_Mutation_p.E36K NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 131 Patatin. lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 AACGGACGGGGAGAATGTGGT 0.637 NaN 0 0 0 0.014758 0 5 34 C6orf129 154467 broad.mit.edu 37 6 37451064 37451064 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:37451064C>T uc003ont.2 - 4 253 c.192G>A c.(190-192)GAG>GAA p.E64E NM_138493 NP_612502 Q9P0B6 CF129_HUMAN hypothetical protein LOC154467 64 Potential. integral to membrane 0 TCAGTTCCTTCTCTGGGAGGA 0.532 NaN 0 0 0 0.001168 0 6 74 UNC5CL 222643 broad.mit.edu 37 6 41002620 41002620 + Nonsense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:41002620G>C uc003opi.2 - 2 283 c.194C>G c.(193-195)TCA>TGA p.S65* UNC5CL_uc010jxe.1_Nonsense_Mutation_p.S65* NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN unc-5 homolog C-like 65 Cytoplasmic (Potential). signal transduction cytoplasm|integral to membrane ovary(2) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) GTGCTGCCTTGAGACCTCATT 0.587 NaN 0 0 0 0.01892 0 24 131 CNPY3 10695 broad.mit.edu 37 6 42902239 42902239 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:42902239A>C uc003ota.3 + 2 627 c.178A>C c.(178-180)AAG>CAG p.K60Q CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.K60Q|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_Intron NM_006586 NP_006577 Q9BT09 CNPY3_HUMAN trinucleotide repeat containing 5 precursor 60 Saposin B-type. innate immune response endoplasmic reticulum ovary(1) 1 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) TGTGGAGCTGAAGTCAGCCTT 0.537 NaN 0 0 0 0.006122 0 19 53 CUL7 9820 broad.mit.edu 37 6 43006375 43006375 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:43006375T>C uc003otq.2 - 24 4799 c.4496A>G c.(4495-4497)AAT>AGT p.N1499S CUL7_uc010jyg.2_Missense_Mutation_p.N778S|CUL7_uc011dvb.1_Missense_Mutation_p.N1583S|CUL7_uc010jyh.2_Missense_Mutation_p.N492S|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1499 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AATCGCCTGATTGAGCATGTC 0.587 NaN 0 0 0 0.004656 0 26 89 COL21A1 81578 broad.mit.edu 37 6 56044893 56044893 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:56044893G>C uc003pcs.2 - 3 355 c.123C>G c.(121-123)ATC>ATG p.I41M COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.I41M|COL21A1_uc003pcu.1_Missense_Mutation_p.I41M NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 41 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AGCCATCTAAGATGAAAACTA 0.348 NaN 0 0 0 0.001984 0 6 9 RIMS1 22999 broad.mit.edu 37 6 72678707 72678707 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:72678707G>A uc003pga.2 + 2 263 c.186G>A c.(184-186)GCG>GCA p.A62A NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 62 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGGACATGGCGAAGCCTGCTG 0.453 NaN 0 0 0 0.01441 0 46 43 GJB7 375519 broad.mit.edu 37 6 87994088 87994088 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:87994088G>A uc003plo.2 - 3 889 c.543C>T c.(541-543)CTC>CTT p.L181L NM_198568 NP_940970 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 181 Helical; (Potential). cell communication connexon complex|integral to membrane 0 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) TGACCAAGAAGAGGATGAAGA 0.398 NaN 0 0 0 0.010729 0 12 30 EPHA7 2045 broad.mit.edu 37 6 93965737 93965737 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:93965737T>C uc003poe.2 - 13 2432 c.2191A>G c.(2191-2193)ACA>GCA p.T731A EPHA7_uc003pof.2_Missense_Mutation_p.T726A|EPHA7_uc011eac.1_Missense_Mutation_p.T727A NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 731 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGAATGACTGTAAATTGCCCA 0.398 NaN 0 0 0 0.009096 0 3 21 FAM54A 113115 broad.mit.edu 37 6 136564027 136564027 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:136564027C>G uc010kgp.1 - 4 643 c.253G>C c.(253-255)GAT>CAT p.D85H FAM54A_uc003qgt.1_Missense_Mutation_p.D85H|FAM54A_uc003qgu.1_Missense_Mutation_p.D42H NM_001099286 NP_001092756 Q6P444 FA54A_HUMAN DUF729 domain containing 1 85 skin(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504) GCTTCTTCATCATTTGCCACA 0.358 NaN 0 0 0 0.004672 0 3 78 STXBP5 134957 broad.mit.edu 37 6 147648324 147648324 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:147648324C>G uc003qlz.2 + 18 2153 c.1992C>G c.(1990-1992)CTC>CTG p.L664L STXBP5_uc010khz.1_Silent_p.L664L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.L335L|STXBP5_uc003qma.2_Silent_p.L11L NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 664 WD 10. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) CAGTGCTGCTCAACCTGGGCA 0.428 NaN 0 0 0 0.021523 0 24 48 EZR 7430 broad.mit.edu 37 6 159206483 159206483 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:159206483C>G uc003qrt.3 - 4 540 c.325G>C c.(325-327)GGA>CGA p.G109R EZR_uc011efs.1_Missense_Mutation_p.G77R|EZR_uc003qru.3_Missense_Mutation_p.G109R NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 109 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) CTAAGGATTCCTTCCTTCACT 0.532 NaN 0 0 0 0.001984 0 6 51 PNLDC1 154197 broad.mit.edu 37 6 160237614 160237614 + Missense_Mutation SNP T T G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:160237614T>G uc003qsx.1 + 14 1238 c.1067T>G c.(1066-1068)TTC>TGC p.F356C PNLDC1_uc003qsy.1_Missense_Mutation_p.F367C NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 356 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TATGATGCCTTCCTCTGTGGG 0.378 NaN 0 0 0 0.008361 0 25 76 LPA 4018 broad.mit.edu 37 6 160999635 160999635 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr6:160999635C>T uc003qtl.2 - 28 4511 c.4391G>A c.(4390-4392)CGA>CAA p.R1464Q NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3972 Kringle 35. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CACTGGACATCGTGTCAGGTT 0.527 NaN 0 0 0 0.010504 0 21 43 SDK1 221935 broad.mit.edu 37 7 4107520 4107520 + Missense_Mutation SNP C C G rs142269128 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:4107520C>G uc003smx.2 + 20 3101 c.2962C>G c.(2962-2964)CTC>GTC p.L988V SDK1_uc010kso.2_Missense_Mutation_p.L264V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 988 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGACACATCTCTCAAGGTCAG 0.423 NaN 0 0 0 0.014758 0 5 35 CYTH3 9265 broad.mit.edu 37 7 6227347 6227347 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:6227347C>T uc003spt.2 - 3 227 c.123G>A c.(121-123)CTG>CTA p.L41L NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 41 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 TTTCATATTTCAGCCTCTGTC 0.418 NaN 0 0 0 0.012319 0 21 87 CYTH3 9265 broad.mit.edu 37 7 6227353 6227353 + Splice_Site SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:6227353C>T uc003spt.2 - 3 222 c.118_splice c.e3-1 p.R40_splice NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 ATTTCAGCCTCTGTCAAAAAA 0.433 NaN 0 0 0 0.008871 0 20 79 FAM126A 84668 broad.mit.edu 37 7 23030703 23030703 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:23030703C>T uc003svm.3 - 2 283 c.28G>A c.(28-30)GAG>AAG p.E10K FAM126A_uc003svn.3_Intron|FAM126A_uc011jyr.1_Missense_Mutation_p.E10K NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 10 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 AACCATTCCTCCACAACCCCT 0.303 NaN 0 0 0 0.010729 0 9 32 CREB5 9586 broad.mit.edu 37 7 28858828 28858828 + Nonsense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:28858828G>T uc003szq.2 + 11 1849 c.1459G>T c.(1459-1461)GAG>TAG p.E487* CREB5_uc003szo.2_Nonsense_Mutation_p.E454*|CREB5_uc003szr.2_Nonsense_Mutation_p.E480*|CREB5_uc003szs.2_Nonsense_Mutation_p.E348* NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 487 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 ATCGGTCAGCGAGGTGGTAGG 0.532 NaN 1 0 1.75199e-13 0.007291 2.39776e-13 28 107 GLI3 2737 broad.mit.edu 37 7 42005202 42005202 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:42005202C>T uc011kbh.1 - 15 3560 c.3469G>A c.(3469-3471)GAC>AAC p.D1157N GLI3_uc011kbg.1_Missense_Mutation_p.D1098N NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1157 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 ATGGGCAGGTCGGTTTTGCTG 0.692 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.01441 0 55 245 ZNF117 51351 broad.mit.edu 37 7 64439571 64439571 + Missense_Mutation SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:64439571T>A uc003ttr.2 - 4 1663 c.378A>T c.(376-378)CAA>CAT p.Q126H NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 126 C2H2-type 1; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) TTCTTTTATGTTGAGTTAGGT 0.308 NaN 0 0 0 0.001168 0 6 15 C7orf42 55069 broad.mit.edu 37 7 66409968 66409968 + Nonsense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:66409968G>A uc003tvk.2 + 3 429 c.165G>A c.(163-165)TGG>TGA p.W55* C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Nonsense_Mutation_p.W55* NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 55 integral to membrane ovary(1) 1 CAAAGGATTGGAATACTTTTC 0.473 NaN 0 0 0 0.008291 0 9 71 WBSCR17 64409 broad.mit.edu 37 7 70886021 70886021 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:70886021G>A uc003tvy.2 + 5 892 c.892G>A c.(892-894)GAG>AAG p.E298K WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 298 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTACAGCTGGGAGCTGTGGTG 0.597 NaN 0 0 0 0.01441 0 52 83 POM121 9883 broad.mit.edu 37 7 72413873 72413873 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:72413873A>G uc003twk.2 + 11 3341 c.3341A>G c.(3340-3342)AAT>AGT p.N1114S POM121_uc003twj.2_Missense_Mutation_p.N849S|POM121_uc010lam.1_Missense_Mutation_p.N849S NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1114 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) TTTGGGATCAATGTGGCCACC 0.637 NaN 0 0 0 0.01441 0 54 17 PHTF2 57157 broad.mit.edu 37 7 77549772 77549772 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:77549772G>C uc003ugs.3 + 9 1079 c.953G>C c.(952-954)GGT>GCT p.G318A PHTF2_uc003ugo.3_Missense_Mutation_p.G280A|PHTF2_uc003ugp.2_Missense_Mutation_p.G280A|PHTF2_uc003ugq.3_Missense_Mutation_p.G280A|PHTF2_uc010ldv.2_Missense_Mutation_p.G280A|PHTF2_uc003ugr.3_Missense_Mutation_p.G284A|PHTF2_uc003ugt.3_Missense_Mutation_p.G284A|PHTF2_uc003ugu.3_Missense_Mutation_p.G280A|PHTF2_uc003ugv.2_Missense_Mutation_p.G143A|PHTF2_uc010ldw.1_Missense_Mutation_p.G143A NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 CTGAGGAATGGTCCTAGCAAA 0.383 NaN 0 0 0 0.021022 0 35 23 CYP51A1 1595 broad.mit.edu 37 7 91763582 91763582 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:91763582A>C uc003ulm.3 - 1 259 c.97T>G c.(97-99)TTG>GTG p.L33V CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron|uc003ulo.1_5'Flank NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 27 Helical; (Potential). cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) AGCATGGACAAGAGGTTGCCG 0.687 NaN OREG0018160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 8 39 CYP3A7 1551 broad.mit.edu 37 7 99319922 99319922 + Nonsense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:99319922C>T uc003uru.2 - 3 320 c.215G>A c.(214-216)TGG>TAG p.W72* ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 72 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TACTCACCCCCAGACTTTTCT 0.388 NaN 0 0 0 0.001168 0 5 39 GATS 352954 broad.mit.edu 37 7 99821277 99821277 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:99821277T>A uc003uua.3 - 4 705 c.456A>T c.(454-456)TCA>TCT p.S152S GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA NM_178831 NP_849153 Q8NAP1 GATS_HUMAN GATS, stromal antigen 3 opposite strand 152 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGTGAACTCTGATGACAACG 0.612 NaN 0 0 0 0.01441 0 49 217 SRRT 51593 broad.mit.edu 37 7 100479836 100479836 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:100479836C>T uc003uwy.2 + 6 829 c.561C>T c.(559-561)TTC>TTT p.F187F SRRT_uc010lhl.1_Silent_p.F187F|SRRT_uc003uxa.2_Silent_p.F187F|SRRT_uc003uwz.2_Silent_p.F187F NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 187 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TGCAGGATTTCTTCCTGGCGC 0.587 NaN 0 0 0 0.008291 0 10 62 MUC17 140453 broad.mit.edu 37 7 100680758 100680758 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:100680758G>A uc003uxp.1 + 3 6114 c.6061G>A c.(6061-6063)GAA>AAA p.E2021K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2021 Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACTTCTACTGAAGGCAGTTC 0.517 NaN 0 0 0 0.01441 0 67 290 TRIM56 81844 broad.mit.edu 37 7 100730635 100730635 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:100730635G>A uc003uxq.2 + 3 273 c.42G>A c.(40-42)CTG>CTA p.L14L TRIM56_uc003uxr.2_Silent_p.L14L NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 14 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) TGGAGGCCCTGAGCAGCGACT 0.622 NaN 0 0 0 0.008291 0 10 317 TES 26136 broad.mit.edu 37 7 115889220 115889220 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:115889220A>G uc003vho.2 + 3 441 c.260A>G c.(259-261)TAT>TGT p.Y87C TES_uc011kmx.1_Missense_Mutation_p.Y87C|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.Y78C|TES_uc003vhp.2_Missense_Mutation_p.Y78C NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 87 negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) ATTCCCATGTATAAACGCAAT 0.403 NaN 0 0 0 0.005443 0 25 37 PTPRZ1 5803 broad.mit.edu 37 7 121651654 121651654 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:121651654G>A uc003vjy.2 + 12 2949 c.2554G>A c.(2554-2556)GAT>AAT p.D852N PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 852 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TACCGAGAGTGATAAGGTGCC 0.473 NaN 0 0 0 0.008291 0 10 81 FAM71F1 84691 broad.mit.edu 37 7 128355536 128355536 + Nonsense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:128355536C>G uc003vno.1 + 1 94 c.41C>G c.(40-42)TCA>TGA p.S14* FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Nonsense_Mutation_p.S14* NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 14 skin(1) 1 TGGAGGAAATCAAAGAAGACA 0.493 NaN 0 0 0 0.01441 0 53 58 FAM71F1 84691 broad.mit.edu 37 7 128359081 128359081 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:128359081C>G uc003vno.1 + 3 684 c.631C>G c.(631-633)CTT>GTT p.L211V FAM71F1_uc010llo.1_Missense_Mutation_p.L112V|FAM71F1_uc011koq.1_Missense_Mutation_p.L103V|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.L112V|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.L211V NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 211 skin(1) 1 CCCTAGGATTCTTGTCACGCA 0.542 NaN 0 0 0 0.01441 0 80 63 EZH2 2146 broad.mit.edu 37 7 148526869 148526870 + Missense_Mutation DNP GA GA AT TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr7:148526869_148526870GA>AT uc003wfd.1 - 5 600_601 c.434_435TC>AT c.(433-435)TTC>TAT p.F145Y EZH2_uc011kug.1_Missense_Mutation_p.F136Y|EZH2_uc003wfb.1_Missense_Mutation_p.F145Y|EZH2_uc003wfc.1_Missense_Mutation_p.F106Y|EZH2_uc011kuh.1_Missense_Mutation_p.F136Y|EZH2_uc011kui.1_Missense_Mutation_p.F145Y|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 145 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.F145C(1) haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GTTCTTCAATGAAAGTACCATC 0.337 NaN Mis DLBCL 0 0 0 0.004672 0 12 59 ERICH1 157697 broad.mit.edu 37 8 618727 618727 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:618727C>T uc003wph.2 - 5 1194 c.1129G>A c.(1129-1131)GCG>ACG p.A377T ERICH1_uc011kwh.1_Missense_Mutation_p.A377T|ERICH1_uc003wpe.1_Missense_Mutation_p.A283T|ERICH1_uc003wpi.2_Missense_Mutation_p.A189T NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 377 large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CTGTGTGACGCAAGGCGGTCC 0.517 NaN 0 0 0 0.006122 0 18 26 SGK223 157285 broad.mit.edu 37 8 8234441 8234441 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:8234441G>C uc003wsh.3 - 2 1478 c.1478C>G c.(1477-1479)TCT>TGT p.S493C NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 493 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CCCCACTGCAGAGTCAGGGCT 0.642 NaN 0 0 0 0.008291 0 9 22 ADAM7 8756 broad.mit.edu 37 8 24324310 24324310 + Splice_Site SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:24324310A>C uc003xeb.2 + 6 503 c.390_splice c.e6-2 p.R130_splice ADAM7_uc003xea.1_Splice_Site_p.R130_splice NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAATTTCTACAGGGGATTCTT 0.383 NaN 0 0 0 0.004482 0 8 15 PRKDC 5591 broad.mit.edu 37 8 48803019 48803019 + Silent SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:48803019A>C uc003xqi.2 - 33 3927 c.3870T>G c.(3868-3870)CTT>CTG p.L1290L PRKDC_uc003xqj.2_Silent_p.L1290L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1290 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGCTTTCAAAAGTGAAGACT 0.383 NaN NHEJ 0 0 0 0.014758 0 5 11 CHD7 55636 broad.mit.edu 37 8 61655385 61655385 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 C A C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:61655385C>A uc003xue.2 + 2 1871 c.1394C>A c.(1393-1395)TCC>TAC p.S465Y NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 465 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATAGGCATGTCCTCGGCACCA 0.557 NaN 1 0 0.000274275 0.004482 0.000349923 9 39 CHD7 55636 broad.mit.edu 37 8 61735064 61735064 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:61735064G>A uc003xue.2 + 12 3437 c.2960G>A c.(2959-2961)CGA>CAA p.R987Q CHD7_uc003xuf.2_Missense_Mutation_p.R100Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 987 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCCTAAAGGCGAAACTGCATT 0.343 NaN 0 0 0 0.001984 0 7 49 CSPP1 79848 broad.mit.edu 37 8 68076741 68076741 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:68076741C>G uc003xxi.2 + 24 2947 c.2916C>G c.(2914-2916)ATC>ATG p.I972M CSPP1_uc003xxj.2_Missense_Mutation_p.I937M|CSPP1_uc003xxk.2_Missense_Mutation_p.I592M|CSPP1_uc010lyw.2_Missense_Mutation_p.I32M NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 972 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAATTCCTATCAGGCAAGTTT 0.368 NaN 0 0 0 0.013726 0 30 204 SULF1 23213 broad.mit.edu 37 8 70536209 70536209 + Missense_Mutation SNP A A G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:70536209A>G uc010lza.1 + 15 2344 c.1627A>G c.(1627-1629)ACA>GCA p.T543A SULF1_uc003xyd.2_Missense_Mutation_p.T543A|SULF1_uc003xye.2_Missense_Mutation_p.T543A|SULF1_uc003xyf.2_Missense_Mutation_p.T543A|SULF1_uc003xyg.2_Missense_Mutation_p.T543A|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 543 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TACTCGGCAGACACGTTCCTT 0.408 NaN 0 0 0 0.010818 0 29 138 SLCO5A1 81796 broad.mit.edu 37 8 70585512 70585512 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:70585512G>A uc003xyl.2 - 10 2846 c.2139C>T c.(2137-2139)TGC>TGT p.C713C SLCO5A1_uc010lzb.2_Silent_p.C658C|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 713 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCCAGAGCATGCAGGTGGTGT 0.478 NaN 0 0 0 0.00874 0 42 214 ZFHX4 79776 broad.mit.edu 37 8 77767112 77767112 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:77767112G>T uc003yav.2 + 10 8207 c.7820G>T c.(7819-7821)TGG>TTG p.W2607L ZFHX4_uc003yau.1_Missense_Mutation_p.W2652L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W2607L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2607 Homeobox 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTGCAAGTCTGGTTCCAGAAT 0.498 NaN HNSCC(33;0.089) 1 0 3.83957e-06 0.016522 5.04629e-06 24 124 DCAF4L2 138009 broad.mit.edu 37 8 88885180 88885180 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:88885180G>A uc003ydz.2 - 1 1117 c.1020C>T c.(1018-1020)ATC>ATT p.I340I NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 340 WD 2. ovary(1) 1 GGAGGCTCCAGATTCTCGTGT 0.592 NaN 0 0 0 0.00499 0 14 129 SLC26A7 115111 broad.mit.edu 37 8 92301462 92301462 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:92301462C>A uc003yex.2 + 4 570 c.292C>A c.(292-294)CAT>AAT p.H98N SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.H98N|SLC26A7_uc003yfa.2_Missense_Mutation_p.H98N NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 98 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) AATGGGACATCATGTTGCCAC 0.378 NaN 1 0 0.000175454 0.010504 0.000224886 21 199 KIAA1429 25962 broad.mit.edu 37 8 95508024 95508024 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:95508024G>A uc003ygo.1 - 19 4492 c.4479C>T c.(4477-4479)CTC>CTT p.L1493L KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1493 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CCTGGTCACTGAGAGGTAAAG 0.388 NaN 0 0 0 0.016723 0 12 97 UBR5 51366 broad.mit.edu 37 8 103354706 103354706 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:103354706C>G uc003ykr.1 - 9 1126 c.1093G>C c.(1093-1095)GAT>CAT p.D365H UBR5_uc003yks.1_Missense_Mutation_p.D365H NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 365 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AATACCTTATCAGGCCACCAC 0.408 NaN 0 0 0 0.01892 0 24 144 PKHD1L1 93035 broad.mit.edu 37 8 110460594 110460594 + Missense_Mutation SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:110460594A>C uc003yne.2 + 39 6103 c.5999A>C c.(5998-6000)AAT>ACT p.N2000T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2000 Extracellular (Potential).|IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TACCCGCTTAATATTCAAAAT 0.373 NaN HNSCC(38;0.096) 0 0 0 0.014758 0 5 46 COL14A1 7373 broad.mit.edu 37 8 121211724 121211724 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:121211724A>T uc003yox.2 + 8 1061 c.796A>T c.(796-798)ATC>TTC p.I266F COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 266 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGCATTTTAATCACAGATGG 0.383 NaN 0 0 0 0.00308 0 8 46 C8orf76 84933 broad.mit.edu 37 8 124253563 124253563 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:124253563G>A uc003yqc.1 - 1 55 c.24C>T c.(22-24)TTC>TTT p.F8F C8orf76_uc003yqd.2_Intron NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 8 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ACTCGCCGCCGAACAACCAGC 0.716 NaN 0 0 0 0.010729 0 10 49 ATAD2 29028 broad.mit.edu 37 8 124392872 124392872 + Missense_Mutation SNP C C G rs148295369 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:124392872C>G uc003yqh.3 - 2 325 c.217G>C c.(217-219)GCT>CCT p.A73P ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A73P NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GATCTTAAAGCACGTGTCCGG 0.358 NaN 0 0 0 0.001984 0 7 153 KLHL38 340359 broad.mit.edu 37 8 124664510 124664510 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:124664510G>C uc003yqs.1 - 1 681 c.657C>G c.(655-657)TTC>TTG p.F219L NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 219 BACK. 0 TGACCTGCTTGAACAGTTCCT 0.557 NaN 0 0 0 0.012319 0 23 155 FAM49B 51571 broad.mit.edu 37 8 130883726 130883726 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:130883726C>G uc003yss.2 - 7 639 c.90G>C c.(88-90)GAG>GAC p.E30D FAM49B_uc003yst.2_Missense_Mutation_p.E30D|FAM49B_uc003ysu.2_Missense_Mutation_p.E30D|FAM49B_uc003ysv.2_5'UTR|FAM49B_uc003ysw.2_Missense_Mutation_p.E30D|FAM49B_uc003ysx.2_Missense_Mutation_p.E30D|FAM49B_uc003ysy.1_Missense_Mutation_p.E30D NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 30 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) CCTTCTCAGACTCTGTAGGCT 0.383 NaN 0 0 0 0.008291 0 9 59 LRRC6 23639 broad.mit.edu 37 8 133645151 133645151 + Nonsense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:133645151G>T uc003ytk.2 - 5 562 c.488C>A c.(487-489)TCA>TAA p.S163* LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 163 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTCAATTACTGAATAGTCCTG 0.363 NaN 1 0 5.43694e-19 0.005524 7.59154e-19 39 89 TG 7038 broad.mit.edu 37 8 134146952 134146952 + Missense_Mutation SNP G G A rs35054972 TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:134146952G>A uc003ytw.2 + 48 8262 c.8221G>A c.(8221-8223)GAA>AAA p.E2741K TG_uc010mdw.2_Missense_Mutation_p.E1500K|TG_uc011ljb.1_Missense_Mutation_p.E1110K|TG_uc011ljc.1_Missense_Mutation_p.E874K NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2741 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCAGAGAGTGAAGAGGAGGA 0.547 NaN 0 0 0 0.005443 0 26 58 NDRG1 10397 broad.mit.edu 37 8 134251299 134251299 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:134251299G>C uc003yuh.2 - 16 1593 c.1007C>G c.(1006-1008)TCT>TGT p.S336C NDRG1_uc003yue.1_Missense_Mutation_p.S51C|NDRG1_uc003yuf.1_Missense_Mutation_p.S147C|NDRG1_uc003yug.2_Missense_Mutation_p.S336C|NDRG1_uc010mee.2_Missense_Mutation_p.S255C|NDRG1_uc010mef.2_Missense_Mutation_p.S270C|NDRG1_uc011ljh.1_Missense_Mutation_p.S164C|NDRG1_uc011lji.1_Missense_Mutation_p.S83C|NDRG1_uc003yui.1_Intron NM_001135242 NP_001128714 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 336 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding ovary(4) 4 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GCCATCCAGAGAAGTGACGCT 0.687 NaN 0 0 0 0.014758 0 5 41 FAM135B 51059 broad.mit.edu 37 8 139255208 139255208 + Missense_Mutation SNP A A T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:139255208A>T uc003yuy.2 - 7 817 c.646T>A c.(646-648)TAC>AAC p.Y216N FAM135B_uc003yux.2_Missense_Mutation_p.Y117N|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 216 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGCTTGCAGTACCCAGCTCCA 0.483 NaN HNSCC(54;0.14) 0 0 0 0.013537 0 11 103 PTK2 5747 broad.mit.edu 37 8 141712710 141712710 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:141712710G>C uc003yvu.2 - 25 2556 c.2326C>G c.(2326-2328)CAT>GAT p.H776D PTK2_uc011ljp.1_Missense_Mutation_p.H84D|PTK2_uc003yvo.2_Missense_Mutation_p.H404D|PTK2_uc011ljq.1_Missense_Mutation_p.H471D|PTK2_uc003yvp.2_Missense_Mutation_p.H444D|PTK2_uc003yvq.2_Missense_Mutation_p.H302D|PTK2_uc003yvr.2_Missense_Mutation_p.H716D|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Missense_Mutation_p.H798D|PTK2_uc003yvv.2_Missense_Mutation_p.H676D|PTK2_uc011ljr.1_Missense_Mutation_p.H776D NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 776 Interaction with TGFB1I1. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TGAGGTCTATGATTCCATGAA 0.453 NaN 0 0 0 0.012319 0 20 139 ZNF696 79943 broad.mit.edu 37 8 144378379 144378379 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:144378379G>A uc003yxy.3 + 3 943 c.534G>A c.(532-534)GAG>GAA p.E178E NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) ACAGCGGGGAGAGGCCCTACG 0.697 NaN 0 0 0 0.00308 0 7 36 EEF1D 1936 broad.mit.edu 37 8 144662724 144662724 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:144662724C>T uc011lki.1 - 6 833 c.564G>A c.(562-564)AAG>AAA p.K188K NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.K530K|EEF1D_uc003yyq.1_Silent_p.K604K|EEF1D_uc011lkj.1_Silent_p.K553K|EEF1D_uc003yyr.2_Silent_p.K554K|EEF1D_uc003yyt.2_Silent_p.K554K|EEF1D_uc011lkk.1_Silent_p.K188K|EEF1D_uc003yys.2_Silent_p.K188K|EEF1D_uc003yyv.2_Silent_p.K164K|EEF1D_uc003yyu.2_Silent_p.K188K|EEF1D_uc011lkl.1_Silent_p.K169K NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 188 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GTGCAGGCTTCTTGGCCTTCT 0.637 NaN 0 0 0 0.006999 0 39 241 FRMPD1 22844 broad.mit.edu 37 9 37735728 37735728 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:37735728C>T uc004aag.1 + 13 1442 c.1398C>T c.(1396-1398)GTC>GTT p.V466V FRMPD1_uc004aah.1_Silent_p.V466V|FRMPD1_uc011lqm.1_Silent_p.V288V|FRMPD1_uc011lqn.1_Silent_p.V335V NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 466 FERM. cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TTCAGGACGTCAAGGTAACAC 0.423 NaN 0 0 0 0.00874 0 42 3 FAM75C1 441452 broad.mit.edu 37 9 90535926 90535926 + Silent SNP A A C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:90535926A>C uc010mqi.2 + 4 1133 c.1104A>C c.(1102-1104)CCA>CCC p.P368P FAM75C1_uc004apq.3_Silent_p.P351P NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CCTCTTTCCCAGTCCTATCTC 0.537 NaN 0 0 0 0.01441 0 218 409 CTNNAL1 8727 broad.mit.edu 37 9 111745534 111745534 + Missense_Mutation SNP C C T rs150483984 byFrequency TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:111745534C>T uc004bdo.1 - 6 833 c.791G>A c.(790-792)CGT>CAT p.R264H CTNNAL1_uc010mts.1_5'UTR|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R264H|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R264H NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 264 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) CACTTTCATACGGTCAAATAC 0.333 NaN 0 0 0 0.016723 0 10 46 PALM2-AKAP2 445815 broad.mit.edu 37 9 112642957 112642957 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:112642957C>A uc004bei.2 + 3 445 c.253C>A c.(253-255)CAG>AAG p.Q85K PALM2_uc004bef.2_Missense_Mutation_p.Q87K|PALM2_uc004beg.2_Missense_Mutation_p.Q87K|PALM2_uc004beh.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bel.1_5'UTR NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AGATAACATTCAGAGGTAGGT 0.527 NaN 1 0 4.72057e-08 0.021523 6.28398e-08 26 18 ZNF483 158399 broad.mit.edu 37 9 114304279 114304279 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:114304279G>C uc004bff.2 + 6 1288 c.1064G>C c.(1063-1065)GGA>GCA p.G355A ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 355 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 AAAACCGCCGGAGAAAAGTCA 0.438 NaN 0 0 0 0.01441 0 105 7 COL27A1 85301 broad.mit.edu 37 9 116930564 116930564 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:116930564G>A uc011lxl.1 + 3 729 c.729G>A c.(727-729)CAG>CAA p.Q243Q COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.Q93Q NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 243 cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 ACACGTACCAGTCCCCACTGG 0.567 NaN 0 0 0 0.001984 0 7 162 COL27A1 85301 broad.mit.edu 37 9 116931301 116931301 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:116931301C>T uc011lxl.1 + 3 1466 c.1466C>T c.(1465-1467)TCA>TTA p.S489L COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S339L NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 489 Pro-rich. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GCTTTATCCTCATCTCCTGCC 0.592 NaN 0 0 0 0.01441 0 165 254 TNFSF8 944 broad.mit.edu 37 9 117668133 117668133 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:117668133G>C uc004bji.1 - 3 472 c.285C>G c.(283-285)TTC>TTG p.F95L NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 95 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 ATGACTTCTTGAATGGAGCCC 0.413 NaN 0 0 0 0.01441 0 49 185 TNFSF8 944 broad.mit.edu 37 9 117668170 117668170 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:117668170G>A uc004bji.1 - 3 435 c.248C>T c.(247-249)TCA>TTA p.S83L NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 83 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 GAGGTCTTCTGAGCAATTTCC 0.403 NaN 0 0 0 0.015359 0 31 144 TNC 3371 broad.mit.edu 37 9 117800543 117800543 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:117800543T>C uc004bjj.3 - 20 5871 c.5509A>G c.(5509-5511)AAA>GAA p.K1837E TNC_uc010mvf.2_Missense_Mutation_p.K1564E NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1837 Fibronectin type-III 14. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 ACCTTACCTTTCTCGCCTGTG 0.517 NaN 0 0 0 0.01441 0 82 94 GOLGA2 2801 broad.mit.edu 37 9 131020315 131020315 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:131020315C>A uc011maw.1 - 22 2384 c.2371G>T c.(2371-2373)GAT>TAT p.D791Y GOLGA2_uc010mxw.2_Missense_Mutation_p.D114Y|GOLGA2_uc004buh.2_Missense_Mutation_p.D264Y NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 791 Potential. Golgi cisterna membrane protein binding ovary(1) 1 CACACAGAATCACCCCCGGTC 0.687 NaN 1 0 5.20837e-25 0.00874 7.32178e-25 41 63 ZER1 10444 broad.mit.edu 37 9 131504994 131504994 + Missense_Mutation SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:131504994T>C uc004bwa.1 - 9 1823 c.1390A>G c.(1390-1392)AAC>GAC p.N464D NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 464 ARM 1. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 ATGCTGAAGTTGCAGAGCGTC 0.617 NaN 0 0 0 0.001168 0 6 32 USP20 10868 broad.mit.edu 37 9 132637006 132637006 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:132637006C>T uc004bys.2 + 18 2103 c.1892C>T c.(1891-1893)TCG>TTG p.S631L USP20_uc004byr.2_Missense_Mutation_p.S631L|USP20_uc004byt.1_Missense_Mutation_p.S631L NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 631 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) GACCTCCTCTCGGTCATCTGC 0.647 NaN 0 0 0 0.01441 0 49 103 SETX 23064 broad.mit.edu 37 9 135158707 135158707 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:135158707C>G uc004cbk.2 - 19 6673 c.6490G>C c.(6490-6492)GAG>CAG p.E2164Q SETX_uc004cbj.2_Missense_Mutation_p.E1783Q|SETX_uc010mzt.2_Missense_Mutation_p.E1783Q NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2164 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AAAGCAGACTCAAGTAGTAAA 0.483 NaN 0 0 0 0.009096 0 4 116 RXRA 6256 broad.mit.edu 37 9 137300887 137300887 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr9:137300887C>G uc004cfb.2 + 4 694 c.532C>G c.(532-534)CTG>GTG p.L178V RXRA_uc004cfc.1_Missense_Mutation_p.L81V NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 178 NR C4-type.|Nuclear receptor. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CAAGGACTGCCTGATTGACAA 0.627 NaN 0 0 0 0.001168 0 5 195 SHROOM2 357 broad.mit.edu 37 X 9864156 9864156 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:9864156C>G uc004csu.1 + 4 2298 c.2208C>G c.(2206-2208)CCC>CCG p.P736P NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 736 ASD1. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CCCAGCCACCCTCATCTACAA 0.622 NaN 0 0 0 0.008291 0 9 9 GEMIN8 54960 broad.mit.edu 37 X 14038306 14038306 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:14038306C>G uc004cwb.2 - 4 706 c.363G>C c.(361-363)GAG>GAC p.E121D GEMIN8_uc004cwc.2_Missense_Mutation_p.E121D|GEMIN8_uc004cwd.2_Missense_Mutation_p.E121D NM_017856 NP_060326 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 121 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding 0 CAGTCTCCATCTCTTCCTCTT 0.483 NaN 0 0 0 0.01441 0 115 24 GPR64 10149 broad.mit.edu 37 X 19021018 19021018 + Missense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:19021018C>A uc004cyx.2 - 24 2340 c.2176G>T c.(2176-2178)GTA>TTA p.V726L GPR64_uc004cyy.2_Missense_Mutation_p.V723L|GPR64_uc004cyz.2_Missense_Mutation_p.V712L|GPR64_uc004czb.2_Missense_Mutation_p.V726L|GPR64_uc004czc.2_Missense_Mutation_p.V710L|GPR64_uc004czd.2_Missense_Mutation_p.V702L|GPR64_uc004cze.2_Missense_Mutation_p.V696L|GPR64_uc004czf.2_Missense_Mutation_p.V688L|GPR64_uc004cza.2_Missense_Mutation_p.V704L|GPR64_uc004cyw.2_Missense_Mutation_p.V710L|GPR64_uc010nfj.2_Missense_Mutation_p.V607L NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 726 Cytoplasmic (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) GTATTAAATACTTTGACAAGG 0.418 NaN 1 0 8.24728e-16 0.004656 1.14003e-15 25 33 DMD 1756 broad.mit.edu 37 X 32429985 32429985 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:32429985G>T uc004dda.1 - 30 4361 c.4117C>A c.(4117-4119)CAG>AAG p.Q1373K DMD_uc004dcw.2_Missense_Mutation_p.Q29K|DMD_uc004dcx.2_Missense_Mutation_p.Q32K|DMD_uc004dcz.2_Missense_Mutation_p.Q1250K|DMD_uc004dcy.1_Missense_Mutation_p.Q1369K|DMD_uc004ddb.1_Missense_Mutation_p.Q1365K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1373 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAGTCTCCTGGGCAGACTGG 0.418 NaN 1 0 5.18039e-06 0.00308 6.79772e-06 7 8 EDA2R 60401 broad.mit.edu 37 X 65824270 65824270 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:65824270C>T uc004dwq.2 - 3 356 c.345G>A c.(343-345)GAG>GAA p.E115E EDA2R_uc004dwr.2_Silent_p.E115E|EDA2R_uc004dws.2_Silent_p.E115E|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.E115E|EDA2R_uc004dwt.1_Silent_p.E115E NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 115 TNFR-Cys 3.|Extracellular (Potential). cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 CACATTGAACCTCAGAGGTGG 0.512 NaN 0 0 0 0.020292 0 13 28 PGAM4 441531 broad.mit.edu 37 X 77224638 77224638 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:77224638G>A uc004ecy.1 - 1 498 c.498C>T c.(496-498)TTC>TTT p.F166F ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 166 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 CTTCATTCCAGAAGGGCAGAG 0.517 NaN 0 0 0 0.011902 0 43 53 CENPI 2491 broad.mit.edu 37 X 100382569 100382569 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:100382569C>G uc004egx.2 + 10 1259 c.989C>G c.(988-990)TCT>TGT p.S330C CENPI_uc011mrg.1_Missense_Mutation_p.S330C|CENPI_uc004egy.2_Missense_Mutation_p.S330C NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 330 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 ATGAGTCTTTCTGATTGTCTG 0.378 NaN 0 0 0 0.014758 0 5 50 CXorf57 55086 broad.mit.edu 37 X 105882904 105882904 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:105882904C>A uc004emi.3 + 9 1872 c.1721C>A c.(1720-1722)TCA>TAA p.S574* CXorf57_uc004emj.3_Intron NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 574 ovary(1)|lung(1)|breast(1) 3 GCCTCAGCATCAGAAACACTT 0.398 NaN 1 0 7.41877e-09 0.012319 9.92366e-09 21 37 PLS3 5358 broad.mit.edu 37 X 114869355 114869355 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:114869355G>C uc004eqd.2 + 7 1135 c.745G>C c.(745-747)GAA>CAA p.E249Q PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.E227Q|PLS3_uc004eqe.2_Missense_Mutation_p.E249Q|PLS3_uc011mtg.1_Missense_Mutation_p.E222Q|PLS3_uc011mth.1_Missense_Mutation_p.E204Q NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 249 Actin-binding 1. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 AAGCAGGAATGAAGGTAATGG 0.408 NaN 0 0 0 0.007291 0 26 51 MAGEC3 139081 broad.mit.edu 37 X 140985120 140985120 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:140985120G>A uc011mwp.1 + 7 1576 c.1576G>A c.(1576-1578)GAA>AAA p.E526K MAGEC3_uc004fbs.2_Missense_Mutation_p.E228K|MAGEC3_uc010nsj.2_Missense_Mutation_p.E228K NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 526 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTATTTCTTTGAAGACACATT 0.438 NaN 0 0 0 0.01441 0 52 99 MTM1 4534 broad.mit.edu 37 X 149767125 149767125 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:149767125G>A uc004fef.3 + 4 282 c.206G>A c.(205-207)CGT>CAT p.R69H MTM1_uc011mxx.1_Intron|MTM1_uc011mxy.1_Missense_Mutation_p.R69H|MTM1_uc011mxz.1_Intron|MTM1_uc010nte.2_5'UTR NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 69 GRAM. R -> P (in XCNM).|R -> C (in XCNM; mild; reduced response to PI5P and reduced binding to PI(3,5)P2).|R -> S (in XCNM; severe). endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ACAAATTATCGTCTTTATTTA 0.299 NaN 0 0 0 0.004482 0 8 13 PGLYRP3 114771 broad.mit.edu 37 1 153270479 153270479 + Frame_Shift_Del DEL G G - TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:153270479delG uc001fbn.1 - 7 1032 c.979delC c.(979-981)CAGfs p.Q327fs NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 precursor 327 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TACAAAGCCTGCCCAGGGGAC 0.587 NaN NaN NaN NaN NaN NaN 98 179 --- --- BAT2L2 23215 broad.mit.edu 37 1 171484935 171484936 + Frame_Shift_Ins INS - - A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:171484935_171484936insA uc010pmg.1 + 5 723_724 c.457_458insA c.(457-459)GAAfs p.E153fs BAT2L2_uc001ghq.1_Frame_Shift_Ins_p.E150fs|BAT2L2_uc001ghr.1_Frame_Shift_Ins_p.E155fs NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 153 protein C-terminus binding 0 TGGGGATCAGGAAAAAAAAGAA 0.356 NaN NaN NaN NaN NaN NaN 7 249 --- --- FAIM3 9214 broad.mit.edu 37 1 207087118 207087119 + Frame_Shift_Ins INS - - G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr1:207087118_207087119insG uc001hey.2 - 2 537_538 c.358_359insC c.(358-360)CTGfs p.L120fs FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Intron|FAIM3_uc010psb.1_Frame_Shift_Ins_p.L120fs NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 120 Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) GTGGACATTCAGGGTGACTTTC 0.515 NaN NaN NaN NaN NaN NaN 24 116 --- --- MYEF2 50804 broad.mit.edu 37 15 48444460 48444460 + Frame_Shift_Del DEL C C - TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr15:48444460delC uc001zwi.3 - 11 1233 c.1109delG c.(1108-1110)GGTfs p.G370fs MYEF2_uc001zwg.3_5'Flank|MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Frame_Shift_Del_p.G370fs NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 370 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TCCTCCAAAACCTGGACCATC 0.289 NaN NaN NaN NaN NaN NaN 9 33 --- --- EPX 8288 broad.mit.edu 37 17 56277646 56277650 + Frame_Shift_Del DEL ATGCC ATGCC - TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:56277646_56277650delATGCC uc002ivq.2 + 10 1684_1688 c.1598_1602delATGCC c.(1597-1602)GATGCCfs p.D533fs NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 533_534 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 AACCGTCAGGATGCCATGTTAGTGG 0.634 NaN OREG0024608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 21 221 --- --- SRP68 6730 broad.mit.edu 37 17 74068550 74068550 + Frame_Shift_Del DEL G G - TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr17:74068550delG uc002jqk.1 - 1 58 c.23delC c.(22-24)CCAfs p.P8fs SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Frame_Shift_Del_p.P8fs|GALR2_uc002jqm.1_5'Flank NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 8 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 gccgccgccTGGGACCTGCTT 0.428 NaN NaN NaN NaN NaN NaN 25 124 --- --- PREX2 80243 broad.mit.edu 37 8 69011949 69011949 + Frame_Shift_Del DEL T T - TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chr8:69011949delT uc003xxv.1 + 23 2613 c.2586delT c.(2584-2586)CATfs p.H862fs PREX2_uc003xxu.1_Frame_Shift_Del_p.H862fs|PREX2_uc011lez.1_Frame_Shift_Del_p.H797fs NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 862 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GTGATGAGCATTTTGTACAAA 0.289 NaN NaN NaN NaN NaN NaN 13 80 --- --- STAG2 10735 broad.mit.edu 37 X 123189994 123189994 + Frame_Shift_Del DEL C C - TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 94108975-b7a0-40ba-ad39-e44cc62e8cc0 2a00d649-7f80-467d-849d-1383cceec965 g.chrX:123189994delC uc004etz.3 + 13 1552 c.1213delC c.(1213-1215)CTCfs p.L405fs STAG2_uc004eua.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eub.2_Frame_Shift_Del_p.L405fs|STAG2_uc004euc.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eud.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eue.2_Frame_Shift_Del_p.L405fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 405 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TGAAGAAGTTCTCACTGCAGA 0.363 NaN NaN NaN NaN NaN NaN 57 21 --- ---