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 KLHL17 339451 broad.mit.edu 37 1 900368 900368 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:900368G>T uc001aca.1 + 12 1833 c.1726G>T c.(1726-1728)GAC>TAC p.D576Y KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 576 Interaction with F-actin (By similarity).|Kelch 5. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGTGGCCATGGACGGATGGTT 0.647 NaN 1 0 0.000151284 0.001855 0.000160839 14 10 PRDM16 63976 broad.mit.edu 37 1 3328010 3328010 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:3328010G>A uc001akf.2 + 9 1329 c.1249G>A c.(1249-1251)GCC>ACC p.A417T PRDM16_uc001akc.2_Missense_Mutation_p.A417T|PRDM16_uc001akd.2_Missense_Mutation_p.A417T|PRDM16_uc001ake.2_Missense_Mutation_p.A417T|PRDM16_uc009vlh.2_Missense_Mutation_p.A118T NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 417 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) GCGGATGCACGCCGACTGCCG 0.572 NaN T EVI1 MDS|AML 0 0 0 0.004482 0 9 30 MASP2 10747 broad.mit.edu 37 1 11102931 11102931 + Splice_Site SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:11102931C>T uc001aru.2 - 6 910 c.889_splice c.e6+1 p.A297_splice NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CACTTGCTCACCTGTGCTCGT 0.547 NaN 0 0 0 0.00632 0 25 92 C1orf158 93190 broad.mit.edu 37 1 12819302 12819302 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:12819302C>G uc001auh.2 + 3 501 c.285C>G c.(283-285)ATC>ATG p.I95M C1orf158_uc010obe.1_Missense_Mutation_p.I95M NM_152290 NP_689503 Q8N1D5 CA158_HUMAN hypothetical protein LOC93190 95 ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GCTACCTGATCAGCACCTATG 0.567 NaN 0 0 0 0.01441 0 54 178 C1orf158 93190 broad.mit.edu 37 1 12820737 12820737 + Silent SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:12820737C>G uc001auh.2 + 4 654 c.438C>G c.(436-438)CTC>CTG p.L146L NM_152290 NP_689503 Q8N1D5 CA158_HUMAN hypothetical protein LOC93190 146 ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATGAGCAGCTCAAGCAGAGAC 0.527 NaN 0 0 0 0.013537 0 12 57 PRAMEF11 440560 broad.mit.edu 37 1 12887575 12887575 + Silent SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:12887575T>A uc001auk.2 - 3 478 c.282A>T c.(280-282)CCA>CCT p.P94P NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 94 0 AGTCCTGCACTGGTGTTTTGT 0.498 NaN 0 0 0 0.007413 0 17 265 CLCNKB 1188 broad.mit.edu 37 1 16372138 16372138 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:16372138G>C uc001axw.3 + 3 266 c.186G>C c.(184-186)CTG>CTC p.L62L FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.L62L NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 62 Helical; (Potential). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TCATGGCCCTGGTCAGCTGTG 0.627 NaN 0 0 0 0.007413 0 17 43 NBPF1 55672 broad.mit.edu 37 1 16895671 16895671 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:16895671C>T uc009vos.1 - 23 3399 c.2511G>A c.(2509-2511)TCG>TCA p.S837S NBPF1_uc009vot.1_Silent_p.S295S|NBPF1_uc001ayz.1_Silent_p.S295S|NBPF1_uc010oce.1_Silent_p.S566S NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 837 NBPF 4. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TTGAGAGAGTCGAATAACCTT 0.488 NaN 0 0 0 0.01441 0 49 302 UBR4 23352 broad.mit.edu 37 1 19491386 19491386 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:19491386G>C uc001bbi.2 - 32 4422 c.4418C>G c.(4417-4419)ACA>AGA p.T1473R UBR4_uc001bbm.1_Missense_Mutation_p.T684R NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1473 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) TGGGGGCGATGTAGTCATGCG 0.552 NaN 0 0 0 0.009096 0 4 73 EPHB2 2048 broad.mit.edu 37 1 23236885 23236885 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:23236885C>G uc009vqj.1 + 14 2658 c.2513C>G c.(2512-2514)GCC>GGC p.A838G EPHB2_uc001bge.2_Missense_Mutation_p.A839G|EPHB2_uc001bgf.2_Missense_Mutation_p.A838G|EPHB2_uc010odu.1_Missense_Mutation_p.A780G NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 838 Cytoplasmic (Potential).|Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GTAATCAATGCCATTGAGCAG 0.617 NaN Hereditary_Prostate_Cancer 0 0 0 0.009096 0 4 57 MYOM3 127294 broad.mit.edu 37 1 24397687 24397687 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:24397687G>C uc001bin.3 - 25 3233 c.3070C>G c.(3070-3072)CTT>GTT p.L1024V MYOM3_uc001bim.3_Missense_Mutation_p.L681V|MYOM3_uc001bio.2_Missense_Mutation_p.L1024V NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1024 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCCAGCCAAAGCCGCACCTCC 0.547 NaN OREG0013235 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 20 LDLRAP1 26119 broad.mit.edu 37 1 25891685 25891685 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:25891685G>A uc001bkl.3 + 8 883 c.769G>A c.(769-771)GAA>AAA p.E257K LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Missense_Mutation_p.E87K NM_015627 NP_056442 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 257 AP-2 complex binding.|[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) TGGCCTGGATGAAGCGTTTTC 0.587 NaN 0 0 0 0.01441 0 56 55 EIF3I 8668 broad.mit.edu 37 1 32688180 32688180 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:32688180G>C uc001bur.3 + 3 578 c.45G>C c.(43-45)CAG>CAC p.Q15H C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.Q15H|EIF3I_uc001bus.2_5'UTR NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 15 WD 1. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) CCATTACGCAGATTAAGTATA 0.597 NaN 0 0 0 0.00333 0 22 72 DLGAP3 58512 broad.mit.edu 37 1 35370070 35370070 + Silent SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:35370070C>G uc001byc.2 - 1 915 c.915G>C c.(913-915)TCG>TCC p.S305S NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 305 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCGACCCGCCCGAGCGCCCCT 0.657 NaN 0 0 0 0.00333 0 25 29 TIE1 7075 broad.mit.edu 37 1 43774766 43774766 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:43774766C>T uc001ciu.2 + 8 1231 c.1152C>T c.(1150-1152)AGC>AGT p.S384S TIE1_uc010okd.1_Silent_p.S384S|TIE1_uc010oke.1_Silent_p.S339S|TIE1_uc009vwq.2_Silent_p.S340S|TIE1_uc010okf.1_Silent_p.S29S|TIE1_uc010okg.1_Silent_p.S29S|TIE1_uc010okc.1_Intron NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 384 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCGGGGCAGCATAGAGCTAC 0.612 NaN 0 0 0 0.00245 0 11 21 KIF2C 11004 broad.mit.edu 37 1 45205650 45205650 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:45205650G>A uc001cmg.3 + 1 161 c.46G>A c.(46-48)GCT>ACT p.A16T KIF2C_uc010olb.1_Missense_Mutation_p.A16T NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 16 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCCCGGTCTCGCTATCAAGAT 0.567 NaN 0 0 0 0.01441 0 54 319 EPS15 2060 broad.mit.edu 37 1 51929378 51929378 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:51929378G>A uc001csq.1 - 7 560 c.468C>T c.(466-468)CTC>CTT p.L156L EPS15_uc009vyz.1_Silent_p.L156L NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 156 EH 2. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 ACTTAGAGTTGAGCAACACTG 0.328 NaN T MLL ALL 0 0 0 0.000602 0 5 40 EPS15 2060 broad.mit.edu 37 1 51934235 51934235 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:51934235G>C uc001csq.1 - 5 311 c.219C>G c.(217-219)TTC>TTG p.F73L EPS15_uc009vyz.1_Missense_Mutation_p.F73L NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 73 EH 1. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 AAGCAACAAAGAATTCCTAAG 0.368 NaN T MLL ALL 0 0 0 0.006214 0 6 21 GLIS1 148979 broad.mit.edu 37 1 54060429 54060429 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:54060429C>A uc001cvr.1 - 3 714 c.147G>T c.(145-147)CTG>CTT p.L49L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 49 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GCTGGAGGCCCAGGCCAGAGC 0.711 NaN 1 0 0.00909568 0.009096 0.00939809 4 18 WLS 79971 broad.mit.edu 37 1 68620905 68620905 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:68620905G>A uc001def.1 - 4 814 c.543C>T c.(541-543)GTC>GTT p.V181V uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.V179V|WLS_uc001deg.1_Silent_p.V90V|WLS_uc009wbf.1_Silent_p.V136V NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 181 Lumenal (Potential).|Interacts with Wnt proteins (By similarity). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 TGAAAGGAAGGACATCACATT 0.453 NaN 0 0 0 0.005524 0 38 40 TTLL7 79739 broad.mit.edu 37 1 84387005 84387005 + Silent SNP T T G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:84387005T>G uc001djc.2 - 11 1611 c.1215A>C c.(1213-1215)TCA>TCC p.S405S TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 405 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) GCCTTTTAATTGAATTTTGAC 0.413 NaN 0 0 0 0.00499 0 17 63 BRDT 676 broad.mit.edu 37 1 92446894 92446894 + Missense_Mutation SNP T T G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:92446894T>G uc001dok.3 + 11 2169 c.1820T>G c.(1819-1821)CTG>CGG p.L607R BRDT_uc001dol.3_Missense_Mutation_p.L607R|BRDT_uc010osz.1_Missense_Mutation_p.L611R|BRDT_uc009wdf.2_Missense_Mutation_p.L534R|BRDT_uc010ota.1_Missense_Mutation_p.L561R|BRDT_uc010otb.1_Missense_Mutation_p.L561R|BRDT_uc001dom.3_Missense_Mutation_p.L607R NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 607 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AAGCGGTTACTGGATGTTAAT 0.274 NaN 0 0 0 0.006214 0 9 42 AMIGO1 57463 broad.mit.edu 37 1 110050899 110050899 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:110050899G>C uc001dxx.3 - 2 1018 c.636C>G c.(634-636)ATC>ATG p.I212M NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN AMIGO protein precursor 212 Extracellular (Potential). axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane ovary(1)|breast(1) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GCCCATTCTTGATCCAGGCCG 0.532 NaN 0 0 0 0.01441 0 52 28 ST7L 54879 broad.mit.edu 37 1 113161719 113161720 + Missense_Mutation DNP CC CC AG TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:113161719_113161720CC>AG uc001ecd.2 - 1 321_322 c.16_17GG>CT c.(16-18)GGC>CTC p.G6L ST7L_uc001ecc.2_5'Flank|ST7L_uc010owg.1_Missense_Mutation_p.G6L|ST7L_uc010owh.1_Missense_Mutation_p.G6L|ST7L_uc001ece.2_Missense_Mutation_p.G6L|ST7L_uc001ecf.2_Missense_Mutation_p.G6L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_5'Flank|ST7L_uc001ech.2_Missense_Mutation_p.G6L|ST7L_uc001eci.2_Missense_Mutation_p.G6L|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.G6L|CAPZA1_uc001ecj.1_5'Flank NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7-like isoform 1 6 negative regulation of cell growth integral to membrane binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCACCCACGCCGCCACGGTCC 0.683 NaN 0 0 0 0.004672 0 8 5 MTMR11 10903 broad.mit.edu 37 1 149903256 149903256 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:149903256C>T uc001etl.3 - 13 1437 c.1186G>A c.(1186-1188)GAA>AAA p.E396K MTMR11_uc001etm.1_Missense_Mutation_p.E324K|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.R222Q NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 396 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GTTCGGGCTTCGGGGGCTGAA 0.572 NaN 0 0 0 0.005443 0 27 55 TCHH 7062 broad.mit.edu 37 1 152081550 152081550 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:152081550C>G uc001ezp.2 - 2 4143 c.4143G>C c.(4141-4143)CAG>CAC p.Q1381H TCHH_uc009wne.1_Missense_Mutation_p.Q1381H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1381 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGCAGCCGCTGTTCCTCCT 0.602 NaN 0 0 0 0.008871 0 21 242 HRNR 388697 broad.mit.edu 37 1 152193791 152193791 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:152193791G>T uc001ezt.1 - 3 390 c.314C>A c.(313-315)ACT>AAT p.T105N NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 105 1. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCTGGTGAGTGTCATCTCT 0.413 NaN 1 0 7.48243e-07 0.006214 8.32755e-07 10 124 FLG 2312 broad.mit.edu 37 1 152285219 152285220 + Missense_Mutation DNP GG GG CT TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:152285219_152285220GG>CT uc001ezu.1 - 3 2178_2179 c.2142_2143CC>AG c.(2140-2145)CTCCAG>CTAGAG p.Q715E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 715 Filaggrin 4.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGCTGACTGGAGCTGGTGGC 0.569 NaN Ichthyosis 0 0 0 0.004672 0 526 360 FLG2 388698 broad.mit.edu 37 1 152327473 152327473 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:152327473C>T uc001ezw.3 - 3 2862 c.2789G>A c.(2788-2790)AGT>AAT p.S930N uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 930 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGACTGACTTGAGCCAGA 0.478 NaN 0 0 0 0.004289 0 33 473 LCE1C 353133 broad.mit.edu 37 1 152777745 152777745 + Silent SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:152777745A>T uc001fap.1 - 2 261 c.210T>A c.(208-210)TCT>TCA p.S70S NM_178351 NP_848128 Q5T751 LCE1C_HUMAN late cornified envelope 1C 70 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCTCCCCCAGAACTGCAGC 0.682 NaN 0 0 0 0.013537 0 12 142 NUP210L 91181 broad.mit.edu 37 1 154018563 154018563 + Silent SNP T T G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:154018563T>G uc001fdw.2 - 27 3750 c.3678A>C c.(3676-3678)CTA>CTC p.L1226L NUP210L_uc009woq.2_Silent_p.L135L|NUP210L_uc010peh.1_Silent_p.L1226L NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1226 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GCCTGGGCACTAGATCCAATA 0.373 NaN 0 0 0 0.009096 0 4 81 TPM3 7170 broad.mit.edu 37 1 154130139 154130139 + Silent SNP G G C rs1051220 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:154130139G>C uc001fdy.1 - 8 853 c.723C>G c.(721-723)ACC>ACG p.T241T TPM3_uc001fdx.1_Silent_p.T226T|TPM3_uc010pei.1_Silent_p.T151T|TPM3_uc001fdz.1_3'UTR|TPM3_uc001fea.1_Silent_p.T241T|TPM3_uc001feb.1_3'UTR|TPM3_uc010pej.1_Silent_p.T174T|TPM3_uc009wor.2_Intron|NUP210L_uc001fdw.2_5'Flank|NUP210L_uc010peh.1_5'Flank NM_001043351 NP_001036816 P06753 TPM3_HUMAN tropomyosin 3 isoform 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) GGTCAAGCAGGGTCTGGTCCA 0.532 NaN T NTRK1|ALK papillary thyroid|ALCL 0 0 0 0.006122 0 18 217 CHRNB2 1141 broad.mit.edu 37 1 154542804 154542804 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:154542804C>G uc001ffg.2 + 4 590 c.326C>G c.(325-327)TCC>TGC p.S109C NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 109 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CGGCTCCCTTCCAAACACATC 0.532 NaN 0 0 0 0.004672 0 3 23 CHRNB2 1141 broad.mit.edu 37 1 154544007 154544007 + Missense_Mutation SNP C C G rs71628622 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:154544007C>G uc001ffg.2 + 5 972 c.708C>G c.(706-708)TTC>TTG p.F236L NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 236 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) AGCCGCTCTTCTACACCATCA 0.577 NaN 0 0 0 0.013537 0 10 130 CHRNB2 1141 broad.mit.edu 37 1 154544202 154544202 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:154544202C>T uc001ffg.2 + 5 1167 c.903C>T c.(901-903)CTC>CTT p.L301L NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 301 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GCAAGTACCTCATGTTCACCA 0.627 NaN 0 0 0 0.00308 0 8 102 GBA 2629 broad.mit.edu 37 1 155207267 155207267 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:155207267C>A uc001fjh.2 - 7 1014 c.864G>T c.(862-864)CTG>CTT p.L288L RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.L175L|GBA_uc010pfx.1_Silent_p.L239L|GBA_uc001fji.2_Silent_p.L288L|GBA_uc001fjj.2_Silent_p.L288L|GBA_uc001fjk.2_Silent_p.L288L|GBA_uc001fjl.2_Silent_p.L288L|GBA_uc010pfy.1_Silent_p.L201L|GBA_uc009wqk.1_Silent_p.L201L NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 288 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GGGTGAAGCCCAGGCACTGGA 0.547 NaN Gaucher_disease_type_I 1 0 1.60099e-16 0.004878 1.92499e-16 34 23 GBA 2629 broad.mit.edu 37 1 155209446 155209446 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:155209446C>A uc001fjh.2 - 4 565 c.415G>T c.(415-417)GCC>TCC p.A139S RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.A139S|GBA_uc001fjj.2_Missense_Mutation_p.A139S|GBA_uc001fjk.2_Missense_Mutation_p.A139S|GBA_uc001fjl.2_Missense_Mutation_p.A139S|GBA_uc010pfy.1_Missense_Mutation_p.A52S|GBA_uc009wqk.1_Missense_Mutation_p.A52S NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 139 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) AAATTTTGGGCAGGGGGTGAC 0.448 NaN Gaucher_disease_type_I 1 0 1.37522e-17 0.007413 1.66344e-17 16 46 INSRR 3645 broad.mit.edu 37 1 156823630 156823630 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:156823630A>G uc010pht.1 - 2 805 c.551T>C c.(550-552)CTG>CCG p.L184P NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.L184P NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 184 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGCAGCACCCAGCACACCAGG 0.637 NaN 0 0 0 0.001168 0 6 57 NTRK1 4914 broad.mit.edu 37 1 156845891 156845892 + Missense_Mutation DNP CC CC AT TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:156845891_156845892CC>AT uc001fqh.1 + 13 1577_1578 c.1521_1522CC>AT c.(1519-1524)CGCCGG>CGATGG p.R508W NTRK1_uc001fqf.1_Missense_Mutation_p.R472W|NTRK1_uc009wsi.1_Missense_Mutation_p.R207W|NTRK1_uc001fqi.1_Missense_Mutation_p.R502W|NTRK1_uc009wsk.1_Missense_Mutation_p.R505W NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 508 Cytoplasmic (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) ACATCAAGCGCCGGGACATCGT 0.609 NaN T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 0 0 0 0.004672 0 11 116 CD5L 922 broad.mit.edu 37 1 157805906 157805906 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:157805906C>T uc001frk.3 - 3 238 c.95G>A c.(94-96)CGC>CAC p.R32H NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 32 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCTTCACAGCGGTGGAGGCC 0.622 NaN 0 0 0 0.004482 0 9 107 OR6Y1 391112 broad.mit.edu 37 1 158517676 158517676 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:158517676G>C uc010pil.1 - 1 220 c.220C>G c.(220-222)CTG>GTG p.L74V NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CACATCTCCAGGAAGGAGAGG 0.463 NaN 0 0 0 0.001984 0 7 88 SPTA1 6708 broad.mit.edu 37 1 158650449 158650449 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:158650449T>C uc001fst.1 - 5 801 c.602A>G c.(601-603)GAA>GGA p.E201G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 201 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTGGAAGTCTTCAAATTTCTT 0.473 NaN 0 0 0 0.009096 0 4 141 FCER1A 2205 broad.mit.edu 37 1 159273848 159273848 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:159273848C>T uc001ftq.2 + 4 306 c.207C>T c.(205-207)AGC>AGT p.S69S NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 69 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) ACAATGGCAGCCTTTCAGAAG 0.368 NaN 0 0 0 0.01441 0 67 37 CCDC19 25790 broad.mit.edu 37 1 159854250 159854250 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:159854250T>A uc001fui.2 - 7 891 c.873A>T c.(871-873)GAA>GAT p.E291D CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E206D|CCDC19_uc001ful.2_Missense_Mutation_p.E206D|CCDC19_uc009wtc.1_Missense_Mutation_p.E277D NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 291 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CTTGGAGCTGTTCCATATATT 0.522 NaN 0 0 0 0.003954 0 23 285 IGSF9 57549 broad.mit.edu 37 1 159897153 159897153 + Silent SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:159897153T>C uc001fur.2 - 21 3720 c.3522A>G c.(3520-3522)GAA>GAG p.E1174E IGSF9_uc001fuq.2_Silent_p.E1158E|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.E320E NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 1174 Cytoplasmic (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GAGTGGCCTGTTCGGGGTGGG 0.602 NaN 0 0 0 0.01441 0 90 61 SDHC 6391 broad.mit.edu 37 1 161293414 161293414 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:161293414C>T uc001gag.2 + 2 61 c.31C>T c.(31-33)CGT>TGT p.R11C SDHC_uc001gai.2_Missense_Mutation_p.R11C|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Missense_Mutation_p.R11C|SDHC_uc001gah.2_Missense_Mutation_p.R11C NM_003001 NP_002992 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C 11 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity 0 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) ACACGTTGGTCGTCATTGCCT 0.328 NaN Mis|N|F paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome 0 0 0 0.009096 0 4 66 PAPPA2 60676 broad.mit.edu 37 1 176740114 176740114 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:176740114T>A uc001gkz.2 + 17 5677 c.4513T>A c.(4513-4515)TGG>AGG p.W1505R PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1505 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACTGAGCCCATGGCTGACATG 0.458 NaN 0 0 0 0.000602 0 5 73 TOR3A 64222 broad.mit.edu 37 1 179051393 179051393 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:179051393G>A uc001gmd.2 + 1 282 c.130G>A c.(130-132)GGC>AGC p.G44S TOR3A_uc010pnd.1_5'UTR NM_022371 NP_071766 Q9H497 TOR3A_HUMAN torsin family 3, member A precursor 44 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding pancreas(1) 1 GGCCTGGCCGGGCTTCCAGCG 0.726 NaN 0 0 0 0.000602 0 4 7 CEP350 9857 broad.mit.edu 37 1 180012207 180012207 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:180012207G>T uc001gnt.2 + 20 4762 c.4379G>T c.(4378-4380)AGA>ATA p.R1460I CEP350_uc009wxl.2_Missense_Mutation_p.R1459I NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1460 centrosome|nucleus|spindle ovary(4) 4 GAGTTGACTAGAACTCATATC 0.373 NaN 1 0 9.70103e-10 0.008291 1.12298e-09 10 194 IER5 51278 broad.mit.edu 37 1 181058781 181058781 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:181058781A>C uc001got.3 + 1 1144 c.743A>C c.(742-744)CAG>CCG p.Q248P NM_016545 NP_057629 Q5VY09 IER5_HUMAN immediate early response 5 248 pancreas(1) 1 AACTTAGAGCAGCCGCCGAGT 0.478 NaN 0 0 0 0.001168 0 6 34 DHX9 1660 broad.mit.edu 37 1 182823164 182823164 + Splice_Site SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:182823164G>A uc001gpr.2 + 6 641 c.478_splice c.e6-1 p.T160_splice DHX9_uc001gps.2_Splice_Site NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TGATTCTACAGACTCTAGAAT 0.328 NaN 0 0 0 0.001168 0 5 144 HMCN1 83872 broad.mit.edu 37 1 186062301 186062301 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:186062301G>C uc001grq.1 + 65 10152 c.9923G>C c.(9922-9924)GGA>GCA p.G3308A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3308 Ig-like C2-type 31. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AACATTTATGGAGCTCTTACA 0.383 NaN 0 0 0 0.009096 0 4 125 RGS18 64407 broad.mit.edu 37 1 192127861 192127861 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:192127861G>A uc001gsg.2 + 1 270 c.94G>A c.(94-96)GAA>AAA p.E32K NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 32 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 AGGAAAAGAAGAAACAAGCAA 0.289 NaN 0 0 0 0.009096 0 3 53 ASPM 259266 broad.mit.edu 37 1 197073873 197073873 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:197073873G>A uc001gtu.2 - 18 4765 c.4508C>T c.(4507-4509)GCC>GTC p.A1503V ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1503 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAACTTTTGGGCTTGAAAGCA 0.323 NaN 0 0 0 0.008291 0 11 81 PTPRC 5788 broad.mit.edu 37 1 198719627 198719627 + Missense_Mutation SNP T T A rs146768191 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:198719627T>A uc001gur.1 + 29 3253 c.3073T>A c.(3073-3075)TGG>AGG p.W1025R PTPRC_uc001gus.1_Missense_Mutation_p.W977R|PTPRC_uc001gut.1_Missense_Mutation_p.W864R NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1025 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AAAGAGCTACTGGAAACCTGA 0.383 NaN 0 0 0 0.006214 0 6 74 NR5A2 2494 broad.mit.edu 37 1 200017817 200017817 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:200017817G>A uc001gvb.2 + 5 1187 c.981G>A c.(979-981)CAG>CAA p.Q327Q NR5A2_uc001gvc.2_Silent_p.Q281Q|NR5A2_uc009wzh.2_Silent_p.Q287Q|NR5A2_uc010pph.1_Silent_p.Q255Q NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 327 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) CCTATTTGCAGCAAGAGCAGG 0.493 NaN 0 0 0 0.003163 0 15 83 FAM71A 149647 broad.mit.edu 37 1 212798782 212798782 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:212798782C>A uc001hjk.2 + 1 967 c.563C>A c.(562-564)CCA>CAA p.P188Q uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 188 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TGTGGCATTCCAGCTGAAGAC 0.532 NaN 1 0 1.08611e-07 0.010729 1.22225e-07 12 74 DUSP10 11221 broad.mit.edu 37 1 221879668 221879668 + Nonsense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:221879668C>A uc001hmy.1 - 3 1134 c.952G>T c.(952-954)GAG>TAG p.E318* DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 318 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) TCAGCGTTCTCGATGTCAGGG 0.632 NaN 1 0 2.7689e-08 0.001984 3.15998e-08 6 167 OBSCN 84033 broad.mit.edu 37 1 228471295 228471295 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:228471295G>A uc009xez.1 + 33 8873 c.8829G>A c.(8827-8829)GCG>GCA p.A2943A OBSCN_uc001hsn.2_Silent_p.A2943A|OBSCN_uc001hsp.1_Silent_p.A642A|OBSCN_uc001hsq.1_Silent_p.A199A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2943 Ig-like 29. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGCACCCCGCGGCCACAGTGA 0.632 NaN 0 0 0 0.004672 0 3 37 ITIH5 80760 broad.mit.edu 37 10 7608067 7608068 + Missense_Mutation DNP GG GG TT TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:7608067_7608068GG>TT uc001ijq.2 - 13 2531_2532 c.2452_2453CC>AA c.(2452-2454)CCC>AAC p.P818N ITIH5_uc001ijp.2_Missense_Mutation_p.P604N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 818 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TCGCTGGAAGGGCGCCGGCTTT 0.599 NaN 0 0 0 0.004672 0 31 65 ARHGAP21 57584 broad.mit.edu 37 10 24908838 24908838 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:24908838A>C uc001isb.2 - 9 2473 c.1986T>G c.(1984-1986)AAT>AAG p.N662K ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.N662K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.N497K|ARHGAP21_uc001isc.1_Missense_Mutation_p.N652K NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 661 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 ATGTCTGCTGATTCAACAGAC 0.478 NaN 0 0 0 0.004672 0 3 92 MYO3A 53904 broad.mit.edu 37 10 26455034 26455034 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:26455034G>A uc001isn.2 + 27 3398 c.3038G>A c.(3037-3039)CGC>CAC p.R1013H MYO3A_uc009xko.1_Missense_Mutation_p.R1013H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1013 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GAGGAGCCCCGCATGAGCCCT 0.448 NaN 0 0 0 0.013537 0 12 295 WAC 51322 broad.mit.edu 37 10 28824669 28824669 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:28824669T>C uc001iuf.2 + 3 342 c.257T>C c.(256-258)GTT>GCT p.V86A WAC_uc001iud.2_Missense_Mutation_p.V41A|WAC_uc001iue.2_Splice_Site_p.R40_splice|WAC_uc009xlb.2_Missense_Mutation_p.V41A|WAC_uc001iug.2_Missense_Mutation_p.V86A|WAC_uc001iuh.2_Missense_Mutation_p.V41A NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 86 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 ACTCACAGAGTTAGAGAGAGG 0.393 NaN 0 0 0 0.003954 0 22 42 DLG5 9231 broad.mit.edu 37 10 79576344 79576344 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:79576344G>T uc001jzk.2 - 20 4060 c.3990C>A c.(3988-3990)GTC>GTA p.V1330V DLG5_uc001jzi.2_Silent_p.V85V|DLG5_uc001jzj.2_Silent_p.V745V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.V934V NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1330 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACGCGGGGTTGACAGCGATTC 0.617 NaN 1 0 0.000602214 0.000602 0.000628668 5 71 MAT1A 4143 broad.mit.edu 37 10 82043718 82043718 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:82043718C>T uc001kbw.2 - 3 501 c.246G>A c.(244-246)GTG>GTA p.V82V NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 82 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGTCCCTCACCACCCGCTGGT 0.592 NaN 0 0 0 0.001984 0 7 29 CRTAC1 55118 broad.mit.edu 37 10 99696115 99696115 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:99696115C>G uc001kou.1 - 3 589 c.233G>C c.(232-234)GGA>GCA p.G78A CRTAC1_uc001kov.2_Missense_Mutation_p.G67A|CRTAC1_uc001kot.1_5'UTR NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 78 FG-GAP 1; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CAGGTTGGGTCCATTGTACCT 0.657 NaN 0 0 0 0.001984 0 6 19 ADAM12 8038 broad.mit.edu 37 10 127737960 127737960 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:127737960G>C uc001ljk.2 - 16 2201 c.1788C>G c.(1786-1788)ACC>ACG p.T596T ADAM12_uc010qul.1_Silent_p.T547T|ADAM12_uc001ljm.2_Silent_p.T596T|ADAM12_uc001ljn.2_Silent_p.T593T|ADAM12_uc001ljl.3_Silent_p.T593T NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 596 Extracellular (Potential).|Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AAACGGCATTGGTACCAATGA 0.532 NaN 0 0 0 0.00245 0 14 82 ADAM12 8038 broad.mit.edu 37 10 128018989 128018989 + Missense_Mutation SNP C C T rs150357794 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr10:128018989C>T uc001ljk.2 - 2 591 c.178G>A c.(178-180)GAC>AAC p.D60N ADAM12_uc010qul.1_Missense_Mutation_p.D60N|ADAM12_uc001ljm.2_Missense_Mutation_p.D60N|ADAM12_uc001ljn.2_Missense_Mutation_p.D60N|ADAM12_uc001ljl.3_Missense_Mutation_p.D60N NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 60 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ACCTTGGAGTCGAAGCTCTTC 0.473 NaN 0 0 0 0.00308 0 6 89 SIGIRR 59307 broad.mit.edu 37 11 408113 408113 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:408113G>C uc001lpd.2 - 4 630 c.300C>G c.(298-300)ATC>ATG p.I100M SIGIRR_uc001lpf.2_Missense_Mutation_p.I100M|SIGIRR_uc001lpe.1_Missense_Mutation_p.I100M|SIGIRR_uc001lpg.2_Missense_Mutation_p.I100M NM_001135054 NP_001128526 Q6IA17 SIGIR_HUMAN single Ig IL-1R-related molecule 100 Ig-like C2-type.|Extracellular (Potential). acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGATGTTCTGGATGGAGCAGG 0.587 NaN 0 0 0 0.004656 0 24 42 OR56A4 120793 broad.mit.edu 37 11 6023399 6023399 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:6023399A>C uc010qzv.1 - 1 980 c.980T>G c.(979-981)GTC>GGC p.V327G NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGATGGGGACATCTGGAGG 0.517 NaN 0 0 0 0.000602 0 5 14 OR56B4 196335 broad.mit.edu 37 11 6129720 6129720 + Nonsense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:6129720G>T uc010qzx.1 + 1 712 c.712G>T c.(712-714)GAA>TAA p.E238* NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 238 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACTCAGCAGAAGCAATGTC 0.493 NaN 1 0 1.28384e-07 0.012319 1.44075e-07 23 24 FAM160A2 84067 broad.mit.edu 37 11 6244846 6244846 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:6244846G>A uc001mcl.3 - 3 1130 c.771C>T c.(769-771)TTC>TTT p.F257F FAM160A2_uc001mck.3_Silent_p.F257F|FAM160A2_uc001mcm.2_Silent_p.F257F NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 257 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 TAACCGGGCAGAAGTAAGAGT 0.597 NaN 0 0 0 0.007413 0 18 86 DCHS1 8642 broad.mit.edu 37 11 6649910 6649910 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:6649910C>T uc001mem.1 - 13 5723 c.5313G>A c.(5311-5313)ATG>ATA p.M1771I NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1771 Cadherin 17.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCCGAAGCATGGTAAGGG 0.577 NaN 0 0 0 0.003163 0 13 20 NAV2 89797 broad.mit.edu 37 11 19970352 19970352 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:19970352C>T uc010rdm.1 + 11 2801 c.2440C>T c.(2440-2442)CGG>TGG p.R814W NAV2_uc001mpp.2_Missense_Mutation_p.R727W|NAV2_uc001mpr.3_Missense_Mutation_p.R791W NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 814 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GTCCAGCCCTCGGCTCCAAGC 0.592 NaN 0 0 0 0.009096 0 4 17 CD5 921 broad.mit.edu 37 11 60885820 60885820 + Silent SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:60885820T>C uc009ynk.2 + 3 371 c.268T>C c.(268-270)TTA>CTA p.L90L NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 90 Extracellular (Potential).|SRCR 1. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TGGGGTGCCCTTAAGCCTTGG 0.582 NaN 0 0 0 0.000602 0 5 175 AHNAK 79026 broad.mit.edu 37 11 62285078 62285078 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:62285078G>C uc001ntl.2 - 5 17111 c.16811C>G c.(16810-16812)TCT>TGT p.S5604C AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5604 Gly-rich. nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GTTGAGAGCAGAGGAGACTTG 0.537 NaN 0 0 0 0.01441 0 54 132 SAPS3 55291 broad.mit.edu 37 11 68370851 68370851 + Nonsense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:68370851G>T uc001onw.2 + 22 2608 c.2341G>T c.(2341-2343)GAG>TAG p.E781* SAPS3_uc001onv.2_Nonsense_Mutation_p.E781*|SAPS3_uc001ony.3_Nonsense_Mutation_p.E752*|SAPS3_uc001onx.2_Nonsense_Mutation_p.E775*|SAPS3_uc009ysh.2_Nonsense_Mutation_p.E701*|SAPS3_uc001onu.2_Nonsense_Mutation_p.E701*|SAPS3_uc010rqc.1_Nonsense_Mutation_p.E549*|SAPS3_uc010rqd.1_Nonsense_Mutation_p.E464*|SAPS3_uc001onz.2_Nonsense_Mutation_p.E109*|SAPS3_uc001ooa.2_Nonsense_Mutation_p.E231* NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 781 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) TGACGGAGAGGAGGATGCAGA 0.542 NaN 1 0 3.7963e-18 0.00333 4.63356e-18 24 35 PAAF1 80227 broad.mit.edu 37 11 73620513 73620513 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:73620513G>A uc001ouk.1 + 7 636 c.602G>A c.(601-603)CGA>CAA p.R201Q PAAF1_uc001oul.1_Missense_Mutation_p.R184Q|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.R184Q NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 201 WD 3. interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) GGGACAGCACGACTTTGGGAT 0.517 NaN 0 0 0 0.010729 0 10 65 AMOTL1 154810 broad.mit.edu 37 11 94602363 94602363 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:94602363G>T uc001pfb.2 + 12 2659 c.2489G>T c.(2488-2490)GGA>GTA p.G830V AMOTL1_uc001pfc.2_Missense_Mutation_p.G780V NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 830 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CTGCCCTCAGGATTGCTGCTG 0.483 NaN 1 0 1.024e-07 0.000602 1.15881e-07 3 19 KIAA1826 84437 broad.mit.edu 37 11 105880645 105880645 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:105880645G>C uc001piy.2 - 3 828 c.655C>G c.(655-657)CTG>GTG p.L219V KIAA1826_uc001piz.2_Missense_Mutation_p.L219V NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 219 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) TCGATATCCAGTCGTCGTTTT 0.443 NaN 0 0 0 0.009096 0 4 101 HSPB2 3316 broad.mit.edu 37 11 111784284 111784284 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:111784284G>T uc001pmg.2 + 2 308 c.214G>T c.(214-216)GGC>TGC p.G72C CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron NM_001541 NP_001532 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 72 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding ovary(2)|skin(1) 3 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GCTCAGTGAGGGCAAGTTCCA 0.637 NaN 1 0 3.27435e-08 0.00245 3.71584e-08 15 76 FAM55D 54827 broad.mit.edu 37 11 114441787 114441787 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:114441787A>G uc001ppc.2 - 6 1689 c.1508T>C c.(1507-1509)TTC>TCC p.F503S FAM55D_uc001ppd.2_Missense_Mutation_p.F219S NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 503 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) GAGATCCTGGAAAATGTCCTT 0.363 NaN 0 0 0 0.004672 0 3 64 TAGLN 6876 broad.mit.edu 37 11 117073833 117073833 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:117073833T>C uc001pqm.2 + 2 225 c.104T>C c.(103-105)ATA>ACA p.I35T uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Missense_Mutation_p.I35T|TAGLN_uc001pqo.2_Missense_Mutation_p.I35T|TAGLN_uc001pqp.2_Missense_Mutation_p.I35T|uc001pqq.1_5'Flank NM_003186 NP_003177 Q01995 TAGL_HUMAN transgelin 35 CH. muscle organ development cytoplasm actin binding 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;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435) GAGTGGATCATAGTGCAGTGT 0.612 NaN 0 0 0 0.00245 0 13 10 MLL 4297 broad.mit.edu 37 11 118374909 118374909 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:118374909G>C uc001pta.2 + 27 8316 c.8293G>C c.(8293-8295)GAA>CAA p.E2765Q MLL_uc001ptb.2_Missense_Mutation_p.E2768Q NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2765 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TGGGGAGAAAGAACATGTCAC 0.403 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.001168 0 5 64 HINFP 25988 broad.mit.edu 37 11 119003661 119003661 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:119003661C>T uc001pvp.2 + 9 1152 c.963C>T c.(961-963)TTC>TTT p.F321F HINFP_uc001pvq.2_Silent_p.F321F|HINFP_uc001pvr.2_Silent_p.F74F NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 321 C2H2-type 8. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ACTGCACCTTCAGTGCCCGAT 0.522 NaN 0 0 0 0.01441 0 57 38 OR8B12 219858 broad.mit.edu 37 11 124413346 124413346 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:124413346C>G uc010sam.1 - 1 205 c.205G>C c.(205-207)GAT>CAT p.D69H NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AAACAGAAATCTATTAAAGAG 0.453 NaN 0 0 0 0.008871 0 20 15 PKNOX2 63876 broad.mit.edu 37 11 125298937 125298937 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:125298937G>T uc001qbu.2 + 11 1280 c.966G>T c.(964-966)AGG>AGT p.R322S PKNOX2_uc010saz.1_Missense_Mutation_p.R293S|PKNOX2_uc010sba.1_Missense_Mutation_p.R293S|PKNOX2_uc010sbb.1_Missense_Mutation_p.R258S|PKNOX2_uc001qbv.2_Missense_Mutation_p.R87S NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 322 Homeobox. nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) ATGAGAAGAGGCAGATCGCAG 0.597 NaN OREG0021475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.35478e-16 0.003163 4.02175e-16 14 17 ARHGAP32 9743 broad.mit.edu 37 11 128844494 128844494 + Silent SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:128844494A>C uc009zcp.2 - 20 2556 c.2556T>G c.(2554-2556)TCT>TCG p.S852S ARHGAP32_uc009zcq.1_Silent_p.S812S|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Silent_p.S503S NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 852 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 AGACAGGTTCAGAGCTTGCTG 0.443 NaN 0 0 0 0.01441 0 55 59 OPCML 4978 broad.mit.edu 37 11 132290160 132290160 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr11:132290160T>A uc001qgs.2 - 7 1015 c.965A>T c.(964-966)AAC>ATC p.N322I OPCML_uc001qgu.2_Missense_Mutation_p.N315I|OPCML_uc010sck.1_Missense_Mutation_p.N331I|OPCML_uc001qgt.2_Missense_Mutation_p.N321I|OPCML_uc010scl.1_Missense_Mutation_p.N281I NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 322 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) GGAGGCCGAGTTTACACCATC 0.502 NaN 0 0 0 0.001984 0 7 46 KDM5A 5927 broad.mit.edu 37 12 416853 416853 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:416853G>A uc001qif.1 - 23 4060 c.3697C>T c.(3697-3699)CTT>TTT p.L1233F KDM5A_uc001qie.1_Missense_Mutation_p.L1233F NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1233 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 AACTTCTGAAGGGATACCAGG 0.527 NaN T NUP98 AML 0 0 0 0.010504 0 20 48 WNK1 65125 broad.mit.edu 37 12 936296 936296 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:936296C>G uc001qio.3 + 3 1528 c.1021C>G c.(1021-1023)CGA>GGA p.R341G WNK1_uc001qin.2_Missense_Mutation_p.R341G|WNK1_uc001qip.3_Missense_Mutation_p.R341G NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 341 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCTTCATACTCGAACTCCACC 0.438 NaN 0 0 0 0.007413 0 18 228 LRTM2 654429 broad.mit.edu 37 12 1943830 1943830 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:1943830G>A uc001qjt.2 + 5 1862 c.1056G>A c.(1054-1056)CTG>CTA p.L352L CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.L352L|LRTM2_uc010sdx.1_Silent_p.L352L|LRTM2_uc001qjv.2_Silent_p.L114L NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 352 Cytoplasmic (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GCCAGCCCCTGATGGGGGACC 0.652 NaN 0 0 0 0.008291 0 8 82 C12orf60 144608 broad.mit.edu 37 12 14976352 14976352 + Silent SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:14976352C>G uc001rcj.3 + 2 687 c.483C>G c.(481-483)ACC>ACG p.T161T NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 161 ovary(1)|central_nervous_system(1) 2 CAGAAGACACCAAAGAGCAAT 0.413 NaN 0 0 0 0.004656 0 25 48 FGD4 121512 broad.mit.edu 37 12 32760950 32760950 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:32760950G>T uc001rkz.2 + 8 1530 c.1053G>T c.(1051-1053)CGG>CGT p.R351R FGD4_uc001rlc.2_Silent_p.R436R|FGD4_uc001rky.2_Silent_p.R103R|FGD4_uc001rla.2_Silent_p.R7R|FGD4_uc010ske.1_Silent_p.R463R|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 351 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CTGTTCAGCGGATTCCCCGGT 0.378 NaN 1 0 4.0181e-32 0.01441 5.02574e-32 49 131 MLL2 8085 broad.mit.edu 37 12 49444319 49444319 + Nonsense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:49444319C>A uc001rta.3 - 11 3052 c.3052G>T c.(3052-3054)GAG>TAG p.E1018* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1018 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 GGAAGGGGCTCCATCAGGATG 0.612 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 1.10513e-12 0.014323 1.30548e-12 21 32 LMBR1L 55716 broad.mit.edu 37 12 49491848 49491848 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:49491848G>A uc001rth.3 - 16 1623 c.1281C>T c.(1279-1281)TTC>TTT p.F427F LMBR1L_uc001rtg.3_Silent_p.F422F|LMBR1L_uc001rti.3_Silent_p.F407F NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 427 Extracellular (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 CCAGCCAGTTGAAGCGTCCAA 0.572 NaN OREG0021783 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 29 106 DIP2B 57609 broad.mit.edu 37 12 51138369 51138369 + Splice_Site SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:51138369G>T uc001rwv.2 + 38 4635 c.4479_splice c.e38-1 p.C1493_splice DIP2B_uc009zlt.2_Splice_Site_p.C923_splice NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TGAAATTTCAGTGCCGTGTTC 0.468 NaN 1 0 5.2432e-18 0.01441 6.38028e-18 42 42 CSRNP2 81566 broad.mit.edu 37 12 51461550 51461550 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:51461550G>C uc001rxu.1 - 4 912 c.614C>G c.(613-615)GCC>GGC p.A205G NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 205 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGGCGGATGGCTCGAAGTTC 0.572 NaN 0 0 0 0.001168 0 5 61 KRT76 51350 broad.mit.edu 37 12 53170846 53170846 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:53170846C>T uc001sax.2 - 1 284 c.230G>A c.(229-231)CGG>CAG p.R77Q NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 77 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 GCCTCCAGCCCGGGAGCTGCC 0.428 NaN 0 0 0 0.00499 0 16 153 KRT79 338785 broad.mit.edu 37 12 53228038 53228038 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:53228038A>G uc001sbb.2 - 1 40 c.7T>C c.(7-9)TCC>CCC p.S3P NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 3 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 GAGACGGAGGACCTCATAGCT 0.612 NaN 0 0 0 0.004482 0 6 28 MYO1A 4640 broad.mit.edu 37 12 57423361 57423361 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:57423361C>T uc001smw.3 - 26 2978 c.2735G>A c.(2734-2736)CGG>CAG p.R912Q MYO1A_uc010sqz.1_Missense_Mutation_p.R750Q|MYO1A_uc009zpd.2_Missense_Mutation_p.R912Q NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 912 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 GAGGAGAATCCGAGAAGAAGT 0.552 NaN 0 0 0 0.001168 0 6 62 LRIG3 121227 broad.mit.edu 37 12 59274438 59274438 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:59274438C>T uc001sqr.2 - 13 1972 c.1726G>A c.(1726-1728)GAG>AAG p.E576K LRIG3_uc009zqh.2_Missense_Mutation_p.E516K|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 576 Ig-like C2-type 1. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) TATTTCCCCTCACTGGCAAAT 0.468 NaN 0 0 0 0.006214 0 9 35 C12orf26 84190 broad.mit.edu 37 12 82793112 82793112 + Missense_Mutation SNP C C T rs141543492 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:82793112C>T uc001szq.2 + 4 1091 c.1070C>T c.(1069-1071)TCA>TTA p.S357L NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 357 0 AATATATATTCACCTTTAACC 0.318 NaN 0 0 0 0.007413 0 20 24 C12orf50 160419 broad.mit.edu 37 12 88420329 88420329 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:88420329G>T uc001tam.1 - 3 237 c.69C>A c.(67-69)ATC>ATA p.I23I C12orf50_uc001tan.2_Silent_p.I77I NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 23 skin(2)|ovary(1) 3 AGATACAGCTGATCTTCACAC 0.373 NaN 1 0 1.12685e-05 0.004482 1.22708e-05 9 46 CCDC38 120935 broad.mit.edu 37 12 96266046 96266046 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:96266046C>G uc001tek.1 - 14 1705 c.1471G>C c.(1471-1473)GAA>CAA p.E491Q NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 491 skin(1) 1 TGCCGCCATTCTTTCTGTTTC 0.403 NaN 0 0 0 0.00333 0 22 133 ACAD10 80724 broad.mit.edu 37 12 112174762 112174762 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:112174762C>T uc001tsq.2 + 12 1868 c.1668C>T c.(1666-1668)TTC>TTT p.F556F ACAD10_uc001tsp.2_Silent_p.F556F|ACAD10_uc009zvx.2_Silent_p.F587F|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 556 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TTTCCTTTTTCCGTGTGGCTG 0.527 NaN 0 0 0 0.003755 0 33 32 C12orf51 283450 broad.mit.edu 37 12 112605677 112605677 + Nonsense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:112605677G>A uc009zwc.2 - 64 11005 c.10987C>T c.(10987-10989)CAG>TAG p.Q3663* NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GAGGAACTCTGCAGCTCCTTA 0.642 NaN 0 0 0 0.001855 0 12 51 IQCD 115811 broad.mit.edu 37 12 113633634 113633634 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:113633634T>A uc001tuu.2 - 3 962 c.790A>T c.(790-792)AGG>TGG p.R264W NM_138451 NP_612460 Q96DY2 IQCD_HUMAN IQ motif containing D Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(1) 1 TGCCTCCGCCTGAGCTCCTCC 0.597 NaN 0 0 0 0.009096 0 4 93 FBXO21 23014 broad.mit.edu 37 12 117627036 117627036 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:117627036T>A uc001twk.2 - 2 410 c.371A>T c.(370-372)GAG>GTG p.E124V FBXO21_uc001twj.2_Missense_Mutation_p.E124V|FBXO21_uc009zwq.2_Missense_Mutation_p.E124V NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 124 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CCTTACGTGCTCTGAAAAGAA 0.478 NaN 0 0 0 0.001168 0 6 79 FBXO21 23014 broad.mit.edu 37 12 117627039 117627039 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:117627039G>A uc001twk.2 - 2 407 c.368C>T c.(367-369)TCA>TTA p.S123L FBXO21_uc001twj.2_Missense_Mutation_p.S123L|FBXO21_uc009zwq.2_Missense_Mutation_p.S123L NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 123 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TACGTGCTCTGAAAAGAACCT 0.483 NaN 0 0 0 0.001984 0 7 77 GCN1L1 10985 broad.mit.edu 37 12 120568496 120568496 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:120568496G>C uc001txo.2 - 56 7638 c.7625C>G c.(7624-7626)ACA>AGA p.T2542R NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2542 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCCTCCGCCTGTCTCGATGTG 0.602 NaN 0 0 0 0.00499 0 16 36 GCN1L1 10985 broad.mit.edu 37 12 120611536 120611536 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:120611536G>C uc001txo.2 - 14 1300 c.1287C>G c.(1285-1287)TTC>TTG p.F429L NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 429 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGCTTTTTTGAACCATTCAG 0.517 NaN 0 0 0 0.000602 0 4 39 COQ5 84274 broad.mit.edu 37 12 120942706 120942706 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:120942706G>C uc001tyn.2 - 5 782 c.762C>G c.(760-762)CTC>CTG p.L254L COQ5_uc001tyo.2_Silent_p.L173L|COQ5_uc010szj.1_Silent_p.L180L NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase 254 ubiquinone biosynthetic process mitochondrion methyltransferase activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCTGGATATGAGGGGATTGT 0.458 NaN 0 0 0 0.004482 0 8 35 FZD10 11211 broad.mit.edu 37 12 130648250 130648250 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:130648250C>G uc001uii.2 + 1 1219 c.763C>G c.(763-765)CGC>GGC p.R255G uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 255 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CGACCCGGCCCGCTTCCGCTA 0.647 NaN 0 0 0 0.010771 0 41 58 ZNF10 7556 broad.mit.edu 37 12 133732756 133732756 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr12:133732756C>T uc009zzb.2 + 5 1371 c.924C>T c.(922-924)CTC>CTT p.L308L ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.L308L NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 308 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GTTCTCACCTCATTGGACATC 0.428 NaN 0 0 0 0.004878 0 38 60 SACS 26278 broad.mit.edu 37 13 23930096 23930096 + Nonsense_Mutation SNP G G A rs146784878 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr13:23930096G>A uc001uon.2 - 8 1244 c.655C>T c.(655-657)CAA>TAA p.Q219* SACS_uc001uoo.2_Nonsense_Mutation_p.Q72*|SACS_uc001uop.1_Nonsense_Mutation_p.Q6*|SACS_uc001uoq.1_Nonsense_Mutation_p.Q72* NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 219 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) AAAAGTGTTTGATGAGGATCT 0.378 NaN 0 0 0 0.008291 0 11 11 KIAA0564 23078 broad.mit.edu 37 13 42259229 42259229 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr13:42259229C>A uc001uyj.2 - 35 4351 c.4281G>T c.(4279-4281)AGG>AGT p.R1427S NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1427 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GGGGTAAAATCCTCACTACCT 0.398 NaN 1 0 1.22384e-17 0.013726 1.48477e-17 34 32 FOXG1 2290 broad.mit.edu 37 14 29237689 29237689 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:29237689C>T uc001wqe.2 + 1 1403 c.1204C>T c.(1204-1206)CTC>TTC p.L402F NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 402 Interaction with KDM5B. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GACCTACTCCCTCAACCCCTG 0.672 NaN 0 0 0 0.004672 0 3 19 PRKD1 5587 broad.mit.edu 37 14 30066873 30066873 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:30066873T>C uc001wqh.2 - 16 2439 c.2258A>G c.(2257-2259)GAG>GGG p.E753G NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 753 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CCTTAGGACCTCAGGAGCCAG 0.488 NaN 0 0 0 0.012319 0 20 63 NPAS3 64067 broad.mit.edu 37 14 34269591 34269591 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:34269591C>G uc001wru.2 + 12 2142 c.2078C>G c.(2077-2079)TCC>TGC p.S693C NPAS3_uc001wrs.2_Missense_Mutation_p.S680C|NPAS3_uc001wrt.2_Missense_Mutation_p.S661C|NPAS3_uc001wrv.2_Missense_Mutation_p.S663C NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CACTTCCCGTCCCCGCAGGGC 0.582 NaN 0 0 0 0.013537 0 12 26 NIN 51199 broad.mit.edu 37 14 51204963 51204963 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:51204963T>A uc001wym.2 - 27 5861 c.5670A>T c.(5668-5670)AAA>AAT p.K1890N NIN_uc001wyi.2_Missense_Mutation_p.K1890N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K1177N|NIN_uc010tqp.1_Missense_Mutation_p.K1896N|NIN_uc001wyo.2_Missense_Mutation_p.K1890N|NIN_uc001wyn.2_RNA NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1890 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GGTTTAGATGTTTTTGGTGCT 0.403 NaN T PDGFRB MPD 0 0 0 0.004289 0 37 84 FRMD6 122786 broad.mit.edu 37 14 52167842 52167842 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:52167842G>A uc001wzd.2 + 4 544 c.259G>A c.(259-261)GAG>AAG p.E87K FRMD6_uc001wzb.2_Missense_Mutation_p.E87K|FRMD6_uc001wzc.2_Missense_Mutation_p.E87K|FRMD6_uc001wze.2_Missense_Mutation_p.E18K NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 87 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) ATGGAAGAAAGAGGCCAGCAA 0.294 NaN 0 0 0 0.009096 0 3 10 PCNX 22990 broad.mit.edu 37 14 71540497 71540497 + Silent SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:71540497C>G uc001xmo.2 + 27 5534 c.5088C>G c.(5086-5088)CTC>CTG p.L1696L PCNX_uc010are.1_Silent_p.L1585L|PCNX_uc010arf.1_Silent_p.L484L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1696 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GGAAAGTACTCACCACTTACT 0.363 NaN 0 0 0 0.012213 0 28 84 SNW1 22938 broad.mit.edu 37 14 78184840 78184840 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:78184840C>T uc001xuf.2 - 13 1309 c.1282G>A c.(1282-1284)GAA>AAA p.E428K SNW1_uc010tvm.1_Missense_Mutation_p.E353K|SNW1_uc010asu.2_Missense_Mutation_p.E266K|SNW1_uc010tvn.1_Missense_Mutation_p.E428K NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 428 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TTATAAATTTCATCTTCTCCA 0.363 NaN 0 0 0 0.00308 0 7 64 SEL1L 6400 broad.mit.edu 37 14 81946033 81946033 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:81946033C>A uc010tvv.1 - 20 2215 c.2098G>T c.(2098-2100)GAT>TAT p.D700Y NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 700 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) ACTTGTGCATCTGGGCTGGCT 0.418 NaN 1 0 2.0095e-06 0.001984 2.21813e-06 6 60 GALC 2581 broad.mit.edu 37 14 88401080 88401080 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:88401080C>T uc001xvt.2 - 17 2453 c.2054G>A c.(2053-2055)CGC>CAC p.R685H GALC_uc010tvw.1_Intron|GALC_uc010tvx.1_Missense_Mutation_p.R659H|GALC_uc010tvy.1_Missense_Mutation_p.R662H|GALC_uc010tvz.1_Intron NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 685 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 TAAGTATTAGCGTGTGGCTTC 0.403 NaN 0 0 0 0.001984 0 6 78 KIAA1409 57578 broad.mit.edu 37 14 93944052 93944052 + Silent SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:93944052A>G uc001ybv.1 + 1 149 c.66A>G c.(64-66)ACA>ACG p.T22T KIAA1409_uc001ybs.1_Silent_p.T22T|KIAA1409_uc001ybu.1_Silent_p.T22T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 199 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATCTTAGCACATCTTTTCTAC 0.343 NaN 0 0 0 0.01441 0 47 99 EML1 2009 broad.mit.edu 37 14 100375681 100375681 + Splice_Site SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:100375681G>C uc001ygs.2 + 11 1174 c.1105_splice c.e11-1 p.C369_splice EML1_uc010avt.1_Splice_Site_p.C356_splice|EML1_uc010tww.1_Splice_Site_p.C357_splice|EML1_uc001ygq.2_Splice_Site_p.C388_splice|EML1_uc001ygr.2_Splice_Site_p.C388_splice NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) TTTTCCTATAGTGCTCTAATG 0.408 NaN 0 0 0 0.006214 0 9 124 C14orf68 283600 broad.mit.edu 37 14 100792529 100792529 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:100792529C>A uc001yhc.2 + 3 181 c.108C>A c.(106-108)ATC>ATA p.I36I C14orf68_uc001yhd.2_Translation_Start_Site NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 36 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) ACACAGGCATCTGGCACTGCG 0.667 NaN 1 0 2.80697e-09 0.010729 3.23082e-09 9 10 TECPR2 9895 broad.mit.edu 37 14 102904406 102904406 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:102904406C>A uc001ylw.1 + 10 2590 c.2442C>A c.(2440-2442)CTC>CTA p.L814L TECPR2_uc010awl.2_Silent_p.L814L|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 814 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 ATGGCATCCTCAGCTTGGTGG 0.587 NaN OREG0022547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.17888e-05 0.006214 2.35365e-05 9 143 MGA 23269 broad.mit.edu 37 15 42041126 42041126 + Splice_Site SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:42041126G>T uc010ucy.1 + 16 5684 c.5503_splice c.e16+1 p.G1835_splice MGA_uc010ucz.1_Splice_Site_p.G1626_splice|MGA_uc010uda.1_Splice_Site_p.G451_splice|MGA_uc001zoi.2_Splice_Site_p.G49_splice NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CGGAACCCAGGTATAAAGTTC 0.403 NaN 1 0 1.836e-18 0.003755 2.24771e-18 36 21 DMXL2 23312 broad.mit.edu 37 15 51773566 51773566 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:51773566T>C uc002abf.2 - 24 5962 c.5737A>G c.(5737-5739)AAA>GAA p.K1913E DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.K1913E|DMXL2_uc010bfa.2_Missense_Mutation_p.K1277E NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1913 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GCAGATGTTTTGGTTACTTTT 0.383 NaN 0 0 0 0.01441 0 98 69 PYGO1 26108 broad.mit.edu 37 15 55839197 55839197 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:55839197T>C uc010bfl.1 - 3 340 c.284A>G c.(283-285)TAT>TGT p.Y95C PYGO1_uc002adf.1_Missense_Mutation_p.Y95C NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 95 Pro-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) AAAGCCAGGATAACCAGGGCC 0.448 NaN 0 0 0 0.009096 0 3 98 ZNF609 23060 broad.mit.edu 37 15 64966254 64966254 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:64966254A>C uc002ann.2 + 4 1201 c.1201A>C c.(1201-1203)ACC>CCC p.T401P NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 401 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CAGCAGCAAAACCCGGGCAGG 0.587 NaN 0 0 0 0.001984 0 4 124 DENND4A 10260 broad.mit.edu 37 15 66048786 66048786 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:66048786C>T uc002aph.2 - 3 381 c.3G>A c.(1-3)ATG>ATA p.M1I DENND4A_uc002api.2_Missense_Mutation_p.M1I|DENND4A_uc002apj.3_Missense_Mutation_p.M1I|DENND4A_uc010ujj.1_Missense_Mutation_p.M1I NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TGTCTTCAATCATCTTCCATT 0.358 NaN 0 0 0 0.00632 0 26 15 SCAMP5 192683 broad.mit.edu 37 15 75305046 75305046 + Silent SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:75305046C>G uc002azk.1 + 3 198 c.36C>G c.(34-36)CCC>CCG p.P12P SCAMP5_uc002azl.1_Silent_p.P12P|SCAMP5_uc002azm.1_Silent_p.P12P|SCAMP5_uc002azn.1_Silent_p.P12P|SCAMP5_uc010uly.1_5'UTR NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 12 Cytoplasmic (Potential). exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding ovary(1) 1 CACCATTGCCCAAATTCATCC 0.512 NaN 0 0 0 0.00278 0 24 10 SCAMP5 192683 broad.mit.edu 37 15 75305073 75305073 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:75305073C>T uc002azk.1 + 3 225 c.63C>T c.(61-63)TTC>TTT p.F21F SCAMP5_uc002azl.1_Silent_p.F21F|SCAMP5_uc002azm.1_Silent_p.F21F|SCAMP5_uc002azn.1_Silent_p.F21F|SCAMP5_uc010uly.1_Silent_p.L3L NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 21 Cytoplasmic (Potential). exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding ovary(1) 1 AGCCATGTTTCTACCAAGACT 0.527 NaN 0 0 0 0.006122 0 18 15 IREB2 3658 broad.mit.edu 37 15 78758753 78758753 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:78758753G>T uc002bdr.2 + 5 713 c.551G>T c.(550-552)GGC>GTC p.G184V IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.G184V NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 184 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GGAGAACTAGGCCGAAACTCA 0.458 NaN 1 0 0.000274275 0.004482 0.00028856 8 41 MESDC2 23184 broad.mit.edu 37 15 81274291 81274291 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:81274291C>G uc002bfy.1 - 2 519 c.446G>C c.(445-447)AGG>ACG p.R149T MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron NM_015154 NP_055969 Q14696 MESD_HUMAN mesoderm development candidate 2 149 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum 0 GCTGCTTTACCTCTGGACGTC 0.403 NaN 0 0 0 0.001168 0 5 35 ADAMTSL3 57188 broad.mit.edu 37 15 84694106 84694106 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:84694106G>C uc002bjz.3 + 27 4798 c.4574G>C c.(4573-4575)AGA>ACA p.R1525T ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R1525T|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R1525T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1525 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GTGTCTCCAAGAGCATGTGCC 0.527 NaN 0 0 0 0.004672 0 3 23 RHCG 51458 broad.mit.edu 37 15 90020842 90020842 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:90020842T>A uc002bnz.2 - 7 1042 c.1018A>T c.(1018-1020)ATT>TTT p.I340F RHCG_uc002bny.2_Missense_Mutation_p.I111F|RHCG_uc002boa.2_Intron NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 340 Cytoplasmic (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) AGATTGTTAATGCCACATGTG 0.592 NaN 0 0 0 0.012319 0 21 12 ITFG3 83986 broad.mit.edu 37 16 310048 310048 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:310048G>C uc002cgf.2 + 5 661 c.466G>C c.(466-468)GAC>CAC p.D156H ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.D156H|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.D156H NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 156 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TGTGGCCCAAGACGTGGCCCT 0.622 NaN 0 0 0 0.012213 0 34 21 WDR24 84219 broad.mit.edu 37 16 735419 735419 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:735419G>C uc002ciz.1 - 7 2617 c.1857C>G c.(1855-1857)GTC>GTG p.V619V JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 749 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) GCGCGTGTGAGACAGACAGGA 0.677 NaN 0 0 0 0.000602 0 5 40 NDUFB10 4716 broad.mit.edu 37 16 2011251 2011251 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:2011251C>T uc002cni.2 + 2 337 c.228C>T c.(226-228)ATC>ATT p.I76I NDUFB10_uc002cnj.2_Silent_p.I76I NM_004548 NP_004539 O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 76 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) AGGAGGACATCATGTGCATGT 0.537 NaN 0 0 0 0.00623 0 39 27 PAQR4 124222 broad.mit.edu 37 16 3019837 3019837 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:3019837G>C uc002csj.3 + 1 496 c.162G>C c.(160-162)ACG>ACC p.T54T PAQR4_uc002csk.3_Silent_p.T54T|PAQR4_uc002csl.3_Silent_p.T54T|PAQR4_uc010uwm.1_5'Flank NM_152341 NP_689554 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 54 Helical; (Potential). T -> A (in Ref. 2; BAC03821). integral to membrane receptor activity 0 ACATCTACACGCACGGTGAGC 0.697 NaN 0 0 0 0.00245 0 14 14 TNP2 7142 broad.mit.edu 37 16 11362858 11362858 + Missense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:11362858A>T uc002das.2 - 1 303 c.262T>A c.(262-264)TCC>ACC p.S88T C16orf75_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN transition protein 2 (during histone to 88 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 GAGTGGTGGGAGTTCATAGTC 0.557 NaN 0 0 0 0.00623 0 39 22 TMC7 79905 broad.mit.edu 37 16 19020681 19020681 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:19020681C>A uc002dfq.2 + 2 385 c.255C>A c.(253-255)CTC>CTA p.L85L TMC7_uc010vao.1_Silent_p.L85L|TMC7_uc002dfp.2_Silent_p.L85L|TMC7_uc010vap.1_5'UTR NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 85 Extracellular (Potential). integral to membrane skin(2)|ovary(1) 3 CTGAAAACCTCAGCAGCCATT 0.493 NaN 1 0 6.68952e-21 0.013114 8.23953e-21 46 20 THUMPD1 55623 broad.mit.edu 37 16 20748467 20748467 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:20748467T>C uc002dho.2 - 4 935 c.797A>G c.(796-798)GAG>GGG p.E266G THUMPD1_uc010vaz.1_Missense_Mutation_p.E119G|THUMPD1_uc002dhp.2_Missense_Mutation_p.E266G NM_017736 NP_060206 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 266 0 CTTCACCACCTCCTGGAGATT 0.428 NaN 0 0 0 0.003954 0 23 86 SEPT1 1731 broad.mit.edu 37 16 30392786 30392786 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:30392786G>A uc002dxy.2 - 6 501 c.314C>T c.(313-315)CCG>CTG p.P105L SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.P152L NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 105 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) TTTCACCACCGGAAGCCAGCT 0.562 NaN 0 0 0 0.009096 0 4 114 ITGAD 3681 broad.mit.edu 37 16 31429662 31429662 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:31429662C>T uc002ebv.1 + 22 2706 c.2657C>T c.(2656-2658)ACC>ATC p.T886I ITGAD_uc010cap.1_Missense_Mutation_p.T887I NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 886 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TACAAGGCCACCCTGGGAGAC 0.577 NaN 0 0 0 0.001984 0 7 96 SLC12A4 6560 broad.mit.edu 37 16 67985834 67985834 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:67985834A>G uc002euz.2 - 8 1165 c.1024T>C c.(1024-1026)TTC>CTC p.F342L SLC12A4_uc010ceu.2_Missense_Mutation_p.F336L|SLC12A4_uc010vkh.1_Missense_Mutation_p.F311L|SLC12A4_uc010vki.1_Missense_Mutation_p.F342L|SLC12A4_uc010vkj.1_Missense_Mutation_p.F344L|SLC12A4_uc002eva.2_Missense_Mutation_p.F342L|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 342 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGTGGCAGAAGAAACTCCAT 0.577 NaN 0 0 0 0.00308 0 7 57 HAS3 3038 broad.mit.edu 37 16 69147356 69147356 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:69147356G>C uc010cfh.2 + 3 873 c.649G>C c.(649-651)GAC>CAC p.D217H HAS3_uc002ewk.2_Missense_Mutation_p.D217H|HAS3_uc002ewl.2_Missense_Mutation_p.D217H NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 217 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) GTGCGACTCTGACACTGTGCT 0.612 NaN OREG0023905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 29 59 SF3B3 23450 broad.mit.edu 37 16 70563070 70563070 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:70563070C>T uc002ezf.2 + 3 576 c.365C>T c.(364-366)GCT>GTT p.A122V SNORD111B_uc010cfv.1_5'Flank NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 122 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CAGTTCTTAGCTGTGGATCCC 0.438 NaN 0 0 0 0.009096 0 3 51 VAT1L 57687 broad.mit.edu 37 16 77910312 77910312 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:77910312G>T uc002ffg.1 + 5 865 c.768G>T c.(766-768)GGG>GGT p.G256G NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 256 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 GCCTCTGTGGGGACAACACTG 0.478 NaN 1 0 1.58986e-06 0.008291 1.76457e-06 10 135 C16orf46 123775 broad.mit.edu 37 16 81095726 81095726 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:81095726C>A uc002fgc.3 - 4 487 c.228G>T c.(226-228)AGG>AGT p.R76S C16orf46_uc010chf.2_Missense_Mutation_p.R76S|C16orf46_uc010vno.1_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 76 0 CTGGAGAAGTCCTTCCCCACC 0.557 NaN 1 0 1.5842e-08 0.001855 1.81308e-08 11 106 KIAA0182 23199 broad.mit.edu 37 16 85691124 85691124 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr16:85691124C>T uc002fix.2 + 8 1628 c.1554C>T c.(1552-1554)TTC>TTT p.F518F KIAA0182_uc002fiw.2_Silent_p.F414F|KIAA0182_uc002fiy.2_Silent_p.F445F NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 518 protein binding large_intestine(3)|ovary(1)|skin(1) 5 TGTCCGAGTTCCGGCAGCAGG 0.697 NaN 0 0 0 0.006214 0 9 12 TP53 7157 broad.mit.edu 37 17 7577107 7577107 + Nonsense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 A T A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:7577107A>T uc002gim.2 - 8 1025 c.831T>A c.(829-831)TGT>TGA p.C277* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.C277*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.C145*|TP53_uc010cng.1_Nonsense_Mutation_p.C145*|TP53_uc002gii.1_Nonsense_Mutation_p.C145*|TP53_uc010cnh.1_Nonsense_Mutation_p.C277*|TP53_uc010cni.1_Nonsense_Mutation_p.C277*|TP53_uc002gij.2_Nonsense_Mutation_p.C277* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 277 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCTCCCAGGACAGGCACAAA 0.547 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.004007 0 17 14 MYH13 8735 broad.mit.edu 37 17 10248889 10248889 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:10248889C>A uc002gmk.1 - 14 1398 c.1308G>T c.(1306-1308)AAG>AAT p.K436N MYH13_uc010vvf.1_Missense_Mutation_p.K111N NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 436 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACAGGAACATCTTCTCGTAGA 0.517 NaN 1 0 5.85753e-14 0.01441 6.98066e-14 44 42 AKAP10 11216 broad.mit.edu 37 17 19845219 19845219 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:19845219C>T uc002gwo.2 - 6 1118 c.981G>A c.(979-981)AGG>AGA p.R327R AKAP10_uc002gwp.1_Silent_p.R327R|AKAP10_uc010cqw.1_Silent_p.R327R NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 327 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CTCCACAAATCCTTGCTGCAA 0.373 NaN 0 0 0 0.000602 0 4 25 NOS2 4843 broad.mit.edu 37 17 26106004 26106004 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:26106004G>T uc002gzu.2 - 10 1347 c.1083C>A c.(1081-1083)GGC>GGA p.G361G NOS2_uc010crh.1_Silent_p.G361G|NOS2_uc010wab.1_Silent_p.G361G NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 361 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGAACTCCAGGCCGCCCACCT 0.567 NaN 1 0 1.39649e-27 0.012213 1.73062e-27 30 40 EFCAB5 374786 broad.mit.edu 37 17 28380773 28380773 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:28380773G>C uc002het.2 + 10 1993 c.1801G>C c.(1801-1803)GAG>CAG p.E601Q EFCAB5_uc010wbi.1_Missense_Mutation_p.E344Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E545Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E258Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E480Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E480Q NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 601 calcium ion binding ovary(1)|skin(1) 2 ATCAAGCAGAGAGTCAGTTGC 0.478 NaN 0 0 0 0.013537 0 12 109 GAS2L2 246176 broad.mit.edu 37 17 34071981 34071981 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:34071981C>T uc002hjv.1 - 6 2563 c.2535G>A c.(2533-2535)GAG>GAA p.E845E NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 845 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGctctttctcctcctttc 0.512 NaN 0 0 0 0.000602 0 4 20 ABCC3 8714 broad.mit.edu 37 17 48761083 48761083 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:48761083G>C uc002isl.2 + 27 4000 c.3920G>C c.(3919-3921)AGA>ACA p.R1307T ABCC3_uc002isn.2_Missense_Mutation_p.R61T NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1307 Cytoplasmic (By similarity).|ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGGTGCTGAGAGACCTGAGT 0.647 NaN 0 0 0 0.010818 0 30 81 UTP18 51096 broad.mit.edu 37 17 49357465 49357465 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:49357465A>C uc002its.2 + 8 1161 c.1112A>C c.(1111-1113)AAG>ACG p.K371T NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 371 WD 3. rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CTAGCAATGAAGGTAAAGCAT 0.418 NaN 0 0 0 0.004007 0 16 24 ACE 1636 broad.mit.edu 37 17 61566424 61566424 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:61566424C>T uc002jau.1 + 17 2594 c.2572C>T c.(2572-2574)CGG>TGG p.R858W ACE_uc002jav.1_Missense_Mutation_p.R284W|ACE_uc010ddv.1_Missense_Mutation_p.R85W|ACE_uc010wpj.1_Missense_Mutation_p.R284W|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 858 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTACGTGCGCCGGGCCCTGCA 0.632 NaN 0 0 0 0.004672 0 3 39 KCNJ16 3773 broad.mit.edu 37 17 68128659 68128659 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:68128659C>A uc002jin.2 + 5 917 c.431C>A c.(430-432)TCT>TAT p.S144Y KCNJ16_uc002jio.2_Missense_Mutation_p.S144Y|KCNJ16_uc002jip.2_Missense_Mutation_p.S144Y|KCNJ16_uc002jiq.2_Missense_Mutation_p.S176Y NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 144 Extracellular (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) GAAGAATGTTCTGTGGCCGTG 0.458 NaN 1 0 7.41877e-09 0.012319 8.51473e-09 23 41 CD300A 11314 broad.mit.edu 37 17 72480186 72480186 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:72480186C>T uc002jkv.2 + 7 1142 c.821C>T c.(820-822)TCT>TTT p.S274F CD300A_uc002jkw.2_Missense_Mutation_p.S161F|CD300A_uc010dfr.2_Missense_Mutation_p.S125F|CD300A_uc010dfs.2_Missense_Mutation_p.S78F NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 274 Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 GTGTTTGATTCTAACACCAAC 0.507 NaN 0 0 0 0.004656 0 26 60 KIAA0195 9772 broad.mit.edu 37 17 73489627 73489627 + Silent SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:73489627A>G uc002jnz.3 + 17 2417 c.2142A>G c.(2140-2142)ACA>ACG p.T714T KIAA0195_uc010wsa.1_Silent_p.T724T|KIAA0195_uc010wsb.1_Silent_p.T354T|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 714 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGCCTGCACAGACTTCTGGG 0.612 NaN 0 0 0 0.00499 0 16 31 NARF 26502 broad.mit.edu 37 17 80426772 80426772 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr17:80426772G>C uc002kfg.3 + 4 525 c.385G>C c.(385-387)GGG>CGG p.G129R NARF_uc002kff.3_Missense_Mutation_p.G70R|NARF_uc010wvo.1_Missense_Mutation_p.G129R|NARF_uc010wvp.1_Missense_Mutation_p.L13F|NARF_uc010dit.2_Missense_Mutation_p.G129R|NARF_uc002kfj.3_Missense_Mutation_p.G81R|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.G129R|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 129 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CAAAAGTCTTGGTGAGTCATC 0.388 NaN 0 0 0 0.001168 0 5 78 NDC80 10403 broad.mit.edu 37 18 2595619 2595619 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr18:2595619C>T uc002kli.2 + 11 1402 c.1220C>T c.(1219-1221)GCG>GTG p.A407V NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 407 Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 GGCAAAGAAGCGGTATGTCAT 0.408 NaN 0 0 0 0.004007 0 16 41 LAMA3 3909 broad.mit.edu 37 18 21474922 21474922 + Missense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr18:21474922A>T uc002kuq.2 + 44 5599 c.5513A>T c.(5512-5514)GAG>GTG p.E1838V LAMA3_uc002kur.2_Missense_Mutation_p.E1838V|LAMA3_uc002kus.3_Missense_Mutation_p.E229V|LAMA3_uc002kut.3_Missense_Mutation_p.E229V NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1838 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCATGGGCGAGCAGCTCCGC 0.627 NaN 0 0 0 0.009096 0 3 25 ZNF555 148254 broad.mit.edu 37 19 2851495 2851495 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:2851495T>A uc002lwo.2 + 3 249 c.160T>A c.(160-162)TCA>ACA p.S54T ZNF555_uc002lwn.3_Missense_Mutation_p.S54T NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) GGCCAGTGGGTCAGTTTCTCA 0.388 NaN 0 0 0 0.009096 0 3 45 C19orf29 58509 broad.mit.edu 37 19 3612107 3612107 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:3612107C>A uc002lyh.2 - 10 2144 c.2091G>T c.(2089-2091)GAG>GAT p.E697D C19orf29_uc010xho.1_Missense_Mutation_p.E156D|C19orf29_uc010dtn.2_Missense_Mutation_p.E545D|C19orf29_uc002lyi.3_Missense_Mutation_p.E697D|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 697 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCGCAGGCCTCCAGGAAGT 0.582 NaN 1 0 3.41278e-10 0.00499 3.98487e-10 17 181 ECSIT 51295 broad.mit.edu 37 19 11624758 11624758 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:11624758G>C uc002msb.2 - 3 509 c.375C>G c.(373-375)GAC>GAG p.D125E ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Missense_Mutation_p.D125E|ECSIT_uc010dyd.2_Missense_Mutation_p.D125E|ECSIT_uc010xma.1_Intron NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN evolutionarily conserved signaling intermediate 125 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding ovary(1) 1 ACACAGCCAGGTCCCGCTCGA 0.597 NaN 0 0 0 0.001984 0 6 56 ZNF563 147837 broad.mit.edu 37 19 12430206 12430206 + Silent SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:12430206T>C uc002mtp.2 - 4 871 c.633A>G c.(631-633)TTA>TTG p.L211L ZNF563_uc002mtq.2_Intron NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 211 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCATACGTAATAAACTGGGCC 0.393 NaN 0 0 0 0.004007 0 17 142 OR7A5 26659 broad.mit.edu 37 19 14938677 14938677 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:14938677A>G uc002mzw.2 - 1 600 c.377T>C c.(376-378)ATC>ACC p.I126T OR7A5_uc010xoa.1_Missense_Mutation_p.I126T NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 GGGGTGACAGATGGCCACAAA 0.483 NaN 0 0 0 0.014323 0 22 38 OR10H4 126541 broad.mit.edu 37 19 16060285 16060285 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:16060285G>A uc010xov.1 + 1 468 c.468G>A c.(466-468)ATG>ATA p.M156I NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GCTCAGTCATGGGGATGATGG 0.522 NaN 0 0 0 0.010504 0 21 113 LSR 51599 broad.mit.edu 37 19 35757739 35757739 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:35757739A>G uc002nyl.2 + 8 1380 c.1157A>G c.(1156-1158)GAA>GGA p.E386G LSR_uc002nym.2_Missense_Mutation_p.E367G|LSR_uc002nyn.2_Missense_Mutation_p.E318G|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Missense_Mutation_p.E278G|LSR_uc002nyp.2_Intron|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 386 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CTGTCCCTAGAAGTCCGCAGT 0.597 NaN 0 0 0 0.004482 0 6 6 CYP2A7 1549 broad.mit.edu 37 19 41383813 41383813 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:41383813A>C uc002opm.2 - 6 1459 c.917T>G c.(916-918)GTC>GGC p.V306G CYP2A7_uc002opo.2_Missense_Mutation_p.V306G|CYP2A7_uc002opn.2_Missense_Mutation_p.V255G NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 306 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGTGGTGCTGACCGTCTCGGT 0.587 NaN 0 0 0 0.010729 0 11 56 FUT1 2523 broad.mit.edu 37 19 49253764 49253764 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:49253764C>G uc002pkk.2 - 4 1750 c.775G>C c.(775-777)GTG>CTG p.V259L NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 259 Lumenal (Potential). V -> E (in Bombay H-). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) CTGGTGACCACGAAAACGGGG 0.617 NaN 0 0 0 0.000602 0 5 122 PLEKHA4 57664 broad.mit.edu 37 19 49348658 49348658 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:49348658C>T uc002pkx.2 - 16 2263 c.1712G>A c.(1711-1713)CGC>CAC p.R571H PLEKHA4_uc002pkw.1_Missense_Mutation_p.R86H|PLEKHA4_uc010eml.2_Missense_Mutation_p.R546H NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 571 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) AGGGAGGTGGCGACCCTCAGG 0.582 NaN 0 0 0 0.01441 0 55 14 NOSIP 51070 broad.mit.edu 37 19 50060221 50060221 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:50060221G>A uc002pok.2 - 7 600 c.448C>T c.(448-450)CCT>TCT p.P150S NOSIP_uc002pol.2_Missense_Mutation_p.P150S|NOSIP_uc010yay.1_RNA NM_015953 NP_057037 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 150 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding skin(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) TTACTTGGAGGACCCACACTG 0.478 NaN 0 0 0 0.000602 0 5 9 GPR32 2854 broad.mit.edu 37 19 51274695 51274695 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:51274695C>T uc010ycf.1 + 1 838 c.838C>T c.(838-840)CTG>TTG p.L280L NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 280 Helical; Name=6; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GTTGGTCCATCTGTGGCGACG 0.592 NaN 0 0 0 0.01441 0 81 25 VSTM1 284415 broad.mit.edu 37 19 54561828 54561828 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:54561828G>A uc002qcw.3 - 3 263 c.87C>T c.(85-87)CCC>CCT p.P29P VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.P29P NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 29 Ig-like V-type. integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CGTGGAGGGAGGGCTTGGGCG 0.498 NaN 0 0 0 0.008291 0 10 70 NLRP7 199713 broad.mit.edu 37 19 55450590 55450590 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:55450590C>G uc002qih.3 - 4 1673 c.1597G>C c.(1597-1599)GAG>CAG p.E533Q NLRP7_uc002qig.3_Missense_Mutation_p.E533Q|NLRP7_uc002qii.3_Missense_Mutation_p.E533Q|NLRP7_uc010esk.2_Missense_Mutation_p.E533Q|NLRP7_uc010esl.2_Missense_Mutation_p.E561Q NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 533 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GCCTCCAACTCCTTGGCTCTC 0.498 NaN 0 0 0 0.004672 0 3 66 U2AF2 11338 broad.mit.edu 37 19 56181003 56181003 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:56181003A>G uc002qlu.2 + 11 2293 c.1238A>G c.(1237-1239)AAG>AGG p.K413R U2AF2_uc002qlt.2_Missense_Mutation_p.K409R NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 413 RRM 3. 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) GGGCTTGTCAAGTCCATCGAG 0.567 NaN 0 0 0 0.00632 0 23 12 NLRP4 147945 broad.mit.edu 37 19 56369479 56369479 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:56369479G>C uc002qmd.3 + 3 1142 c.720G>C c.(718-720)TTG>TTC p.L240F NLRP4_uc002qmf.2_Missense_Mutation_p.L165F|NLRP4_uc010etf.2_Missense_Mutation_p.L71F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 240 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGGGCGGCTTGAACGAACCCG 0.567 NaN 0 0 0 0.005443 0 26 61 ZIM2 23619 broad.mit.edu 37 19 57286539 57286539 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:57286539G>C uc002qnr.2 - 11 1483 c.1101C>G c.(1099-1101)CTC>CTG p.L367L uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.L163L|ZIM2_uc010ygr.1_Silent_p.L163L|ZIM2_uc002qnq.2_Silent_p.L367L|ZIM2_uc010etp.2_Silent_p.L367L|ZIM2_uc010ygs.1_Silent_p.L367L NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 367 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GGTGTGGCATGAGATAGAAGG 0.478 NaN 0 0 0 0.00308 0 6 96 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NaN 1 0 0.004672 0.004672 0.00486466 3 8 ZNF418 147686 broad.mit.edu 37 19 58438177 58438177 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr19:58438177C>G uc002qqs.1 - 4 1664 c.1372G>C c.(1372-1374)GAG>CAG p.E458Q ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E373Q NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 458 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TTCCTACACTCTCTACACTCA 0.443 NaN 0 0 0 0.01441 0 96 44 RHOB 388 broad.mit.edu 37 2 20647450 20647450 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:20647450C>T uc002rdv.2 + 1 616 c.224C>T c.(223-225)CCG>CTG p.P75L NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 75 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CTCTCCTACCCGGACACCGAC 0.647 NaN 0 0 0 0.012319 0 22 65 ASXL2 55252 broad.mit.edu 37 2 25965729 25965729 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:25965729C>G uc002rgs.2 - 12 3698 c.3477G>C c.(3475-3477)TTG>TTC p.L1159F ASXL2_uc002rgt.1_Missense_Mutation_p.L642F NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCCATTTTCAAGGCTTCAG 0.458 NaN 0 0 0 0.004656 0 27 60 BIRC6 57448 broad.mit.edu 37 2 32716552 32716552 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:32716552C>G uc010ezu.2 + 44 8401 c.8267C>G c.(8266-8268)CCA>CGA p.P2756R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2756 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) GTTTCAGATCCAAACCTAATT 0.388 NaN 0 0 0 0.013726 0 34 57 FSHR 2492 broad.mit.edu 37 2 49190073 49190073 + Silent SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:49190073A>G uc002rww.2 - 10 1961 c.1887T>C c.(1885-1887)TTT>TTC p.F629F FSHR_uc002rwx.2_Silent_p.F567F|FSHR_uc010fbn.2_Silent_p.F603F NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 629 Helical; Name=7; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGTTTTTGGTAAAGATGGCAT 0.468 NaN Gonadal_Dysgenesis_46_XX 0 0 0 0.000602 0 5 37 PSME4 23198 broad.mit.edu 37 2 54093286 54093286 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:54093286G>A uc002rxp.2 - 46 5528 c.5472C>T c.(5470-5472)TTC>TTT p.F1824F PSME4_uc010yop.1_Silent_p.F1714F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.F1199F|PSME4_uc010fbv.1_Silent_p.F968F|PSME4_uc010fbt.1_Silent_p.F259F NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1824 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGTCATCAGTGAATTGCTGTT 0.398 NaN 0 0 0 0.003954 0 23 78 MEIS1 4211 broad.mit.edu 37 2 66775088 66775088 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:66775088C>T uc002sdu.2 + 9 1359 c.902C>T c.(901-903)TCT>TTT p.S301F MEIS1_uc002sdt.2_Missense_Mutation_p.S301F|MEIS1_uc002sdv.2_Missense_Mutation_p.S299F|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.S236F|MEIS1_uc002sdw.1_Missense_Mutation_p.S157F NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 301 Homeobox; TALE-type. sequence-specific DNA binding transcription factor activity 0 CCTTACCCTTCTGAAGAACAG 0.383 NaN 0 0 0 0.014323 0 20 26 ARHGAP25 9938 broad.mit.edu 37 2 69015022 69015022 + Missense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:69015022A>T uc002seu.2 + 4 764 c.400A>T c.(400-402)AGC>TGC p.S134C ARHGAP25_uc010yqk.1_Missense_Mutation_p.S108C|ARHGAP25_uc010fdg.2_Missense_Mutation_p.S134C|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.S127C|ARHGAP25_uc002sew.2_Missense_Mutation_p.S127C|ARHGAP25_uc002sex.2_Missense_Mutation_p.S127C|ARHGAP25_uc010fdh.1_RNA NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 134 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 CCTCATGGCCAGCTCTCAGGC 0.542 NaN 0 0 0 0.004672 0 3 72 TGFBRAP1 9392 broad.mit.edu 37 2 105883968 105883968 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:105883968G>C uc002tcq.2 - 12 2539 c.2455C>G c.(2455-2457)CAG>GAG p.Q819E TGFBRAP1_uc010fjc.2_Missense_Mutation_p.Q588E|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.Q819E|uc002tcp.2_5'Flank NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 819 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 TGGCATATCTGACAAAGCTTT 0.433 NaN 0 0 0 0.014323 0 23 116 RGPD3 653489 broad.mit.edu 37 2 107040796 107040796 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:107040796C>G uc010ywi.1 - 20 3684 c.3627G>C c.(3625-3627)TTG>TTC p.L1209F NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1209 intracellular transport binding ovary(1) 1 GATCATTTGTCAAAAATGTTT 0.408 NaN 0 0 0 0.009718 0 37 192 MALL 7851 broad.mit.edu 37 2 110849283 110849283 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:110849283C>G uc002tfk.2 - 2 944 c.170G>C c.(169-171)GGA>GCA p.G57A MALL_uc010fju.2_Intron NM_005434 NP_005425 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 57 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding ovary(1)|skin(1) 2 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) CATCACCCATCCTTGCAGCAA 0.433 NaN 0 0 0 0.000602 0 4 71 SAP130 79595 broad.mit.edu 37 2 128775266 128775266 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:128775266C>G uc002tpp.2 - 3 546 c.414G>C c.(412-414)GAG>GAC p.E138D SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.E138D|SAP130_uc002tpq.1_Missense_Mutation_p.E112D NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 138 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TCATAAGTCCCTCCGAAAATG 0.478 NaN 0 0 0 0.014323 0 20 27 LCT 3938 broad.mit.edu 37 2 136567117 136567117 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:136567117T>C uc002tuu.1 - 8 2811 c.2800A>G c.(2800-2802)AAC>GAC p.N934D NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 934 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGGTAAAGTTATCCCAGATG 0.552 NaN 0 0 0 0.009096 0 4 61 ORC4L 5000 broad.mit.edu 37 2 148705641 148705641 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:148705641C>T uc002twi.2 - 9 876 c.741G>A c.(739-741)GAG>GAA p.E247E ORC4L_uc002twj.2_Silent_p.E247E|ORC4L_uc010zbo.1_Silent_p.E173E|ORC4L_uc010zbp.1_Silent_p.E30E|ORC4L_uc010fnr.2_Silent_p.E247E|ORC4L_uc010zbq.1_Silent_p.E163E|ORC4L_uc002twk.2_Silent_p.E247E|ORC4L_uc010zbr.1_Silent_p.E247E NM_181741 NP_859525 O43929 ORC4_HUMAN origin recognition complex subunit 4 247 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203) CATTCCACTTCTCAGCAAAAA 0.294 NaN 0 0 0 0.001168 0 6 94 SCN2A 6326 broad.mit.edu 37 2 166229818 166229818 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:166229818G>A uc002udc.2 + 21 4223 c.3933G>A c.(3931-3933)CTG>CTA p.L1311L SCN2A_uc002udd.2_Silent_p.L1311L|SCN2A_uc002ude.2_Silent_p.L1311L NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1311 III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TAAGAGCTCTGAGGCCACTGA 0.433 NaN 0 0 0 0.009096 0 4 85 XIRP2 129446 broad.mit.edu 37 2 168101392 168101392 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:168101392A>G uc002udx.2 + 8 3508 c.3490A>G c.(3490-3492)ACA>GCA p.T1164A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T989A|XIRP2_uc010fpq.2_Missense_Mutation_p.T942A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 989 Xin 18. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GGATGTTCGTACAGCATGTTT 0.398 NaN 0 0 0 0.009535 0 29 40 XIRP2 129446 broad.mit.edu 37 2 168108453 168108453 + Silent SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:168108453A>C uc002udx.2 + 8 10569 c.10551A>C c.(10549-10551)ATA>ATC p.I3517I XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.I3342I|XIRP2_uc010fpq.2_Silent_p.I3295I|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3342 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTGCATTTATAAGTGGTAAAT 0.408 NaN 0 0 0 0.001168 0 4 68 TTN 7273 broad.mit.edu 37 2 179431334 179431334 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:179431334C>G uc010zfg.1 - 275 72045 c.71821G>C c.(71821-71823)GGT>CGT p.G23941R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17636R|TTN_uc010zfi.1_Missense_Mutation_p.G17569R|TTN_uc010zfj.1_Missense_Mutation_p.G17444R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24868 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) ATGGGTTTACCCCAGGCAAGT 0.423 NaN 0 0 0 0.00333 0 24 206 TTN 7273 broad.mit.edu 37 2 179547564 179547564 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:179547564C>T uc010zfg.1 - 132 29446 c.29222G>A c.(29221-29223)CGG>CAG p.R9741Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6402Q|TTN_uc010fre.1_Missense_Mutation_p.R588Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10668 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) TTCTTCTTCCCGTTGTACTGA 0.353 NaN 0 0 0 0.001168 0 6 57 TTN 7273 broad.mit.edu 37 2 179596956 179596956 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:179596956A>C uc010zfg.1 - 54 13232 c.13008T>G c.(13006-13008)AAT>AAG p.N4336K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N997K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5263 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) TTTCTCTATCATTTGCAAACC 0.423 NaN 0 0 0 0.01441 0 62 85 COL5A2 1290 broad.mit.edu 37 2 190044277 190044277 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:190044277T>A uc002uqk.2 - 1 329 c.54A>T c.(52-54)TTA>TTT p.L18F NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 18 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CAAATTGCCCTAATAAAACAA 0.413 NaN 0 0 0 0.007413 0 16 21 STAT1 6772 broad.mit.edu 37 2 191847151 191847151 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:191847151G>C uc002usj.2 - 18 1928 c.1540C>G c.(1540-1542)CTC>GTC p.L514V STAT1_uc010fse.1_Missense_Mutation_p.L514V|STAT1_uc002usk.2_Missense_Mutation_p.L514V|STAT1_uc002usl.2_Missense_Mutation_p.L516V|STAT1_uc010fsf.1_Missense_Mutation_p.L326V NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 514 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TCCACATTGAGACCTCTTTTG 0.398 NaN 0 0 0 0.004289 0 34 100 HECW2 57520 broad.mit.edu 37 2 197092943 197092943 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:197092943A>G uc002utm.1 - 22 3983 c.3800T>C c.(3799-3801)TTC>TCC p.F1267S HECW2_uc002utl.1_Missense_Mutation_p.F911S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1267 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GGATACCAGGAAGAAAAACTC 0.348 NaN 0 0 0 0.00245 0 12 46 GTF3C3 9330 broad.mit.edu 37 2 197641263 197641263 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:197641263A>G uc002uts.2 - 11 1571 c.1481T>C c.(1480-1482)ATT>ACT p.I494T GTF3C3_uc010zgu.1_Missense_Mutation_p.I465T NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 494 TPR 9. transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 AGAAAGTGAAATCCTTGCATC 0.473 NaN 0 0 0 0.009096 0 4 114 SPEG 10290 broad.mit.edu 37 2 220337015 220337015 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:220337015T>A uc010fwg.2 + 15 3902 c.3902T>A c.(3901-3903)CTC>CAC p.L1301H NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1301 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ATGGTCACACTCACATGGAAC 0.647 NaN 0 0 0 0.004482 0 7 38 CAPN10 11132 broad.mit.edu 37 2 241531491 241531491 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:241531491G>A uc002vzk.1 + 4 796 c.612G>A c.(610-612)GAG>GAA p.E204E CAPN10_uc010zoh.1_Silent_p.E204E|CAPN10_uc002vzl.1_Silent_p.E204E|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.E76E|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 204 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GCCGCTGGGAGCACAGGACTT 0.657 NaN 0 0 0 0.00308 0 7 8 MTERFD2 130916 broad.mit.edu 37 2 242038846 242038846 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:242038846C>T uc002wan.1 - 1 1065 c.572G>A c.(571-573)CGC>CAC p.R191H MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.R162H NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 162 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) GTAACTGGAGCGCTTCCTCAT 0.338 NaN 0 0 0 0.008291 0 10 118 FASTKD5 60493 broad.mit.edu 37 20 3127517 3127517 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:3127517C>G uc002whz.2 - 2 2511 c.2200G>C c.(2200-2202)GAG>CAG p.E734Q uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 734 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 TAGGATAACTCTACCACACGG 0.502 NaN 0 0 0 0.01441 0 48 55 ANKRD5 63926 broad.mit.edu 37 20 10030758 10030758 + Nonsense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:10030758C>A uc002wno.2 + 7 1934 c.1541C>A c.(1540-1542)TCA>TAA p.S514* uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.S514*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.S325* NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 514 calcium ion binding ovary(1)|breast(1) 2 GCCTTTGAATCAGGAATACCT 0.378 NaN 1 0 1.12685e-05 0.004482 1.22708e-05 8 46 BCL2L1 598 broad.mit.edu 37 20 30309576 30309576 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:30309576G>T uc002wwl.2 - 2 812 c.446C>A c.(445-447)GCA>GAA p.A149E BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Missense_Mutation_p.A149E|BCL2L1_uc002wwo.1_Missense_Mutation_p.A149E NM_138578 NP_612815 Q07817 B2CL1_HUMAN BCL2-like 1 isoform 1 149 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding lung(1)|central_nervous_system(1) 2 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CACGCACAGTGCCCCGCCGAA 0.537 NaN 1 0 3.07112e-06 0.010729 3.37155e-06 9 175 TM9SF4 9777 broad.mit.edu 37 20 30723942 30723942 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:30723942G>C uc002wxj.2 + 3 430 c.195G>C c.(193-195)CAG>CAC p.Q65H TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Missense_Mutation_p.Q48H NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 65 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCTTCTGCCAGCCCAGCAAGA 0.483 NaN 0 0 0 0.001168 0 5 44 SNTA1 6640 broad.mit.edu 37 20 32026723 32026723 + Silent SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:32026723C>G uc002wzd.1 - 2 692 c.420G>C c.(418-420)GGG>GGC p.G140G SNTA1_uc010zuf.1_Silent_p.G140G NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 140 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 ACAAGTCTTCCCCATTCACAG 0.532 NaN 0 0 0 0.010729 0 11 141 PTPRT 11122 broad.mit.edu 37 20 41400092 41400092 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:41400092C>T uc002xkg.2 - 5 851 c.667G>A c.(667-669)GAC>AAC p.D223N PTPRT_uc010ggj.2_Missense_Mutation_p.D223N NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 223 Extracellular (Potential).|Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAAAGCTTGTCATGCTGAGAC 0.418 NaN 0 0 0 0.009096 0 4 163 TFAP2C 7022 broad.mit.edu 37 20 55212966 55212966 + Missense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr20:55212966A>T uc002xya.2 + 7 1493 c.1250A>T c.(1249-1251)AAA>ATA p.K417I TFAP2C_uc010zzi.1_Missense_Mutation_p.K248I NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 417 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) AACTACATCAAAGAAGCCCTG 0.488 NaN 0 0 0 0.000602 0 5 71 KRTAP22-1 337979 broad.mit.edu 37 21 31973474 31973474 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:31973474G>T uc011add.1 + 1 35 c.35G>T c.(34-36)GGC>GTC p.G12V KRTAP6-2_uc011adc.1_5'Flank NM_181620 NP_853651 Q3MIV0 KR221_HUMAN keratin associated protein 22-1 12 intermediate filament 0 GGTGGCCAGGGCTATGCCAAA 0.443 NaN 1 0 1.45844e-13 0.013726 1.73296e-13 34 96 KCNJ6 3763 broad.mit.edu 37 21 39087121 39087121 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:39087121C>G uc011aej.1 - 3 392 c.339G>C c.(337-339)TTG>TTC p.L113F KCNJ6_uc002ywo.2_Missense_Mutation_p.L113F NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 113 Helical; Name=M1; (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) TGTATGCGATCAACCACCAGA 0.453 NaN 0 0 0 0.01441 0 60 128 LCA5L 150082 broad.mit.edu 37 21 40794949 40794949 + Silent SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:40794949A>G uc002yxu.2 - 5 1103 c.790T>C c.(790-792)TTA>CTA p.L264L LCA5L_uc002yxv.2_Silent_p.L264L|LCA5L_uc002yxw.1_Silent_p.L264L|LCA5L_uc002yxx.1_Silent_p.L126L|LCA5L_uc002yxy.2_RNA NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 264 0 Prostate(19;1.2e-06) ATAATAGATAATTTATGAGTG 0.373 NaN 0 0 0 0.004672 0 3 159 DSCAM 1826 broad.mit.edu 37 21 42080497 42080497 + Nonsense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:42080497G>A uc002yyq.1 - 2 696 c.244C>T c.(244-246)CAA>TAA p.Q82* DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 82 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGGAAAATTTGGAGAGTGCCG 0.502 NaN 0 0 0 0.004007 0 14 144 RIPK4 54101 broad.mit.edu 37 21 43161781 43161781 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:43161781C>T uc002yzn.1 - 8 1620 c.1572G>A c.(1570-1572)TTG>TTA p.L524L NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 524 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CGTTCTTCTCCAACAGCAGCC 0.622 NaN 0 0 0 0.00278 0 23 80 PRDM15 63977 broad.mit.edu 37 21 43221851 43221851 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:43221851G>T uc002yzq.1 - 31 4184 c.4073C>A c.(4072-4074)ACC>AAC p.T1358N PRDM15_uc002yzo.2_Missense_Mutation_p.T1029N|PRDM15_uc002yzp.2_Missense_Mutation_p.T1049N|PRDM15_uc002yzr.1_Missense_Mutation_p.T1049N NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGATGGTGTGGTCACATTTGG 0.557 NaN 1 0 1.23904e-05 0.000602 1.34202e-05 4 77 MCM3AP 8888 broad.mit.edu 37 21 47655203 47655203 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr21:47655203C>A uc002zir.1 - 28 5958 c.5922G>T c.(5920-5922)CTG>CTT p.L1974L MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L469L|MCM3AP_uc002zip.1_Silent_p.L715L|MCM3AP_uc002ziq.1_Silent_p.L901L|MCM3APAS_uc002zis.1_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1974 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CCATGTCTAGCAGCGCAGAGA 0.507 NaN 1 0 0.00024832 0.009096 0.000262621 4 68 POLR2F 5435 broad.mit.edu 37 22 38355472 38355472 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:38355472G>T uc003aul.2 + 3 331 c.210G>T c.(208-210)GCG>GCT p.A70A POLR2F_uc010gxi.2_Missense_Mutation_p.A64S|POLR2F_uc003aum.2_RNA NM_021974 NP_068809 P61218 RPAB2_HUMAN DNA directed RNA polymerase II polypeptide F 70 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1) 1 Melanoma(58;0.045) GCACCCGAGCGCTCCAGATTG 0.587 NaN 1 0 3.65163e-15 0.00632 4.36467e-15 26 121 TAB1 10454 broad.mit.edu 37 22 39817833 39817833 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:39817833G>A uc003axt.2 + 8 827 c.778G>A c.(778-780)GCT>ACT p.A260T TAB1_uc003axr.2_Missense_Mutation_p.A336T|TAB1_uc011aok.1_Missense_Mutation_p.A94T|TAB1_uc003axu.1_Missense_Mutation_p.A260T NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 260 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane catalytic activity|protein binding breast(1) 1 TCCCCATAGCGCTGCCAAGTC 0.547 NaN 0 0 0 0.006214 0 8 34 FAM83F 113828 broad.mit.edu 37 22 40415273 40415273 + Silent SNP C C T rs141929176 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:40415273C>T uc003ayk.1 + 2 685 c.591C>T c.(589-591)GAC>GAT p.D197D NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 197 breast(1) 1 TCATCCTGGACGAGGCAGGAG 0.527 NaN 0 0 0 0.010729 0 12 59 ZC3H7B 23264 broad.mit.edu 37 22 41752423 41752423 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:41752423C>T uc003azw.2 + 21 2676 c.2460C>T c.(2458-2460)ATC>ATT p.I820I ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 836 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 GGACCCCCATCAGTTCTCGGG 0.617 NaN 0 0 0 0.014323 0 22 139 ZC3H7B 23264 broad.mit.edu 37 22 41753225 41753225 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:41753225G>A uc003azw.2 + 23 2942 c.2726G>A c.(2725-2727)TGC>TAC p.C909Y ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 925 C3H1-type 4.|Potential. interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 AAGTGCCGCTGCGCCCATGGA 0.662 NaN 0 0 0 0.001168 0 6 38 ACO2 50 broad.mit.edu 37 22 41923345 41923345 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:41923345G>C uc003bac.2 + 16 2029 c.2007G>C c.(2005-2007)TCG>TCC p.S669S ACO2_uc003bad.2_Silent_p.S694S|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 669 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 GCGAGGGCTCGAGCCGGGAGC 0.617 NaN OREG0026589 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 19 17 TCF20 6942 broad.mit.edu 37 22 42606218 42606218 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:42606218C>A uc003bcj.1 - 1 5228 c.5094G>T c.(5092-5094)TCG>TCT p.S1698S TCF20_uc003bck.1_Silent_p.S1698S|TCF20_uc003bnt.2_Silent_p.S1698S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GCCCCATAACCGAAGACTCTG 0.557 NaN 1 0 1.56452e-12 0.007413 1.84276e-12 17 64 SELO 83642 broad.mit.edu 37 22 50649091 50649091 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:50649091G>A uc011arr.1 + 5 1160 c.1102G>A c.(1102-1104)GAC>AAC p.D368N SELO_uc010hap.2_Missense_Mutation_p.D179N|SELO_uc003bjy.2_Missense_Mutation_p.D48N|SELO_uc003bjz.2_Missense_Mutation_p.D48N NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 368 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CAATGCCTCCGACAACACCGG 0.672 NaN OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 24 35 MIOX 55586 broad.mit.edu 37 22 50927504 50927504 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr22:50927504C>T uc003bll.1 + 6 558 c.444C>T c.(442-444)TGC>TGT p.C148C MIOX_uc003blm.1_Silent_p.C148C|MIOX_uc003bln.1_Missense_Mutation_p.A159V NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 148 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) CCGTCGGATGCCGTCCGCAGG 0.667 NaN 0 0 0 0.009096 0 3 7 ATP2B2 491 broad.mit.edu 37 3 10417161 10417161 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:10417161C>G uc003bvt.2 - 11 1808 c.1369G>C c.(1369-1371)GAG>CAG p.E457Q ATP2B2_uc003bvv.2_Missense_Mutation_p.E412Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.E412Q|ATP2B2_uc010hdo.2_Missense_Mutation_p.E162Q NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 457 Helical; (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GGGAGCCCCTCGGGCACGGCG 0.622 NaN 0 0 0 0.003954 0 22 90 ARPP21 10777 broad.mit.edu 37 3 35770879 35770879 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:35770879G>T uc003cgb.2 + 15 1574 c.1310G>T c.(1309-1311)GGT>GTT p.G437V ARPP21_uc003cga.2_Missense_Mutation_p.G383V|ARPP21_uc011axy.1_Missense_Mutation_p.G403V|ARPP21_uc003cgf.2_Missense_Mutation_p.G238V|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 437 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CTAGTCTCAGGTGTGGCAGCT 0.587 NaN 1 0 5.18039e-06 0.00308 5.67176e-06 7 49 VILL 50853 broad.mit.edu 37 3 38047993 38047993 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:38047993C>A uc003chj.2 + 19 2545 c.2259C>A c.(2257-2259)GCC>GCA p.A753A VILL_uc003chl.2_Silent_p.A753A NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 753 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGGCAGGTGCCGTGGCCCTGC 0.622 NaN 1 0 5.19286e-32 0.01441 6.47505e-32 63 69 SCN10A 6336 broad.mit.edu 37 3 38739807 38739807 + Missense_Mutation SNP T T G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:38739807T>G uc003ciq.2 - 27 4904 c.4904A>C c.(4903-4905)GAG>GCG p.E1635A NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1635 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GATGCCAGCCTCCCACCTCAC 0.552 NaN 0 0 0 0.000602 0 5 171 RTP3 83597 broad.mit.edu 37 3 46542298 46542298 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:46542298G>A uc003cps.1 + 2 676 c.608G>A c.(607-609)TGC>TAC p.C203Y NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 203 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TCCTACGCATGCCAAAACCAC 0.428 NaN 0 0 0 0.009096 0 4 72 SMARCC1 6599 broad.mit.edu 37 3 47755937 47755937 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:47755937C>T uc003crq.2 - 8 878 c.760G>A c.(760-762)GAA>AAA p.E254K SMARCC1_uc011bbd.1_Missense_Mutation_p.E145K NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 254 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GGTGGATCTTCAATTTCAGCA 0.244 NaN 0 0 0 0.00632 0 22 49 OR5K2 402135 broad.mit.edu 37 3 98217282 98217282 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:98217282G>T uc011bgx.1 + 1 758 c.758G>T c.(757-759)GGA>GTA p.G253V NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TTATTCTATGGATCTATTTTT 0.328 NaN 1 0 0.00829132 0.008291 0.00861103 10 50 RPL24 6152 broad.mit.edu 37 3 101400024 101400024 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:101400024C>A uc003dvh.1 - 6 472 c.429G>T c.(427-429)GTG>GTT p.V143V RPL24_uc003dvi.1_Nonstop_Mutation_p.*122L NM_000986 NP_000977 P83731 RL24_HUMAN ribosomal protein L24 143 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 TCACAGGCTTCACAATCTTTT 0.383 NaN 1 0 8.20599e-20 0.011902 1.00767e-19 38 106 MYLK 4638 broad.mit.edu 37 3 123419119 123419119 + Missense_Mutation SNP C C T rs72491150 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:123419119C>T uc003ego.2 - 18 3478 c.3196G>A c.(3196-3198)GAA>AAA p.E1066K MYLK_uc011bjw.1_Missense_Mutation_p.E1066K|MYLK_uc003egp.2_Missense_Mutation_p.E997K|MYLK_uc003egq.2_Missense_Mutation_p.E1066K|MYLK_uc003egr.2_Missense_Mutation_p.E997K|MYLK_uc003egs.2_Missense_Mutation_p.E890K|MYLK_uc003egt.2_Missense_Mutation_p.E257K NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1066 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TTCTTGAGTTCTTCTTTGCTA 0.527 NaN 0 0 0 0.01441 0 141 162 NEK11 79858 broad.mit.edu 37 3 130871348 130871348 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:130871348G>A uc003eny.2 + 8 1090 c.764G>A c.(763-765)AGA>AAA p.R255K NEK11_uc003enx.2_Missense_Mutation_p.R255K|NEK11_uc003eoa.2_Missense_Mutation_p.R255K|NEK11_uc003enz.2_Missense_Mutation_p.R73K|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.R107K|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.R255K|NEK11_uc010hto.1_Missense_Mutation_p.R107K NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 255 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 CTCCCTGAGAGATATCCAAAA 0.333 NaN 0 0 0 0.007413 0 19 84 MED12L 116931 broad.mit.edu 37 3 151102914 151102914 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:151102914A>G uc003eyp.2 + 34 4956 c.4918A>G c.(4918-4920)ATG>GTG p.M1640V MED12L_uc011bnz.1_Missense_Mutation_p.M1500V|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.M803V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1640 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGTGAACCTATGGGTTCCTT 0.348 NaN 0 0 0 0.01441 0 109 77 GPR149 344758 broad.mit.edu 37 3 154055940 154055940 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:154055940T>C uc003faa.2 - 4 1844 c.1744A>G c.(1744-1746)ATA>GTA p.I582V NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 582 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCTGGAGTTATTTTTTGCCCT 0.453 NaN 0 0 0 0.001984 0 6 272 PLCH1 23007 broad.mit.edu 37 3 155212182 155212182 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:155212182G>T uc011bok.1 - 15 2260 c.1983C>A c.(1981-1983)CGC>CGA p.R661R PLCH1_uc011boj.1_Silent_p.R661R|PLCH1_uc011bol.1_Silent_p.R643R NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 661 PI-PLC Y-box. 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) TGGAATCAATGCGGTAGGCAG 0.453 NaN 1 0 0.000602214 0.000602 0.000628668 5 80 VEPH1 79674 broad.mit.edu 37 3 156983384 156983384 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:156983384G>A uc003fbj.1 - 13 2513 c.2196C>T c.(2194-2196)TTC>TTT p.F732F VEPH1_uc003fbk.1_Silent_p.F732F|VEPH1_uc010hvu.1_Silent_p.F687F NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 732 PH. plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACCTTTTGATGAACTTCCATC 0.383 NaN 0 0 0 0.01441 0 55 60 MECOM 2122 broad.mit.edu 37 3 168845829 168845829 + Nonsense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:168845829G>T uc003ffi.3 - 4 338 c.69C>A c.(67-69)TGC>TGA p.C23* MECOM_uc010hwk.1_Nonsense_Mutation_p.C46*|MECOM_uc003ffj.3_Nonsense_Mutation_p.C87*|MECOM_uc011bpi.1_Nonsense_Mutation_p.C23*|MECOM_uc003ffn.3_Nonsense_Mutation_p.C23*|MECOM_uc003ffk.2_Nonsense_Mutation_p.C23*|MECOM_uc003ffl.2_Nonsense_Mutation_p.C183*|MECOM_uc011bpj.1_Nonsense_Mutation_p.C211*|MECOM_uc011bpk.1_Nonsense_Mutation_p.C13*|MECOM_uc010hwn.2_Nonsense_Mutation_p.C211*|MECOM_uc003ffm.1_Nonsense_Mutation_p.C87* NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 23 C2H2-type 1.|Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CACAGTCTTCGCAGCGATATT 0.433 NaN 1 0 0.00010058 0.013537 0.000107214 12 120 ARPM1 84517 broad.mit.edu 37 3 169485742 169485742 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:169485742C>G uc003ffs.1 - 2 972 c.597G>C c.(595-597)TTG>TTC p.L199F TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 199 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AAGCACTGAGCAACATGATAC 0.468 NaN 0 0 0 0.006214 0 7 118 MFN1 55669 broad.mit.edu 37 3 179082125 179082125 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:179082125G>C uc003fjs.2 + 6 703 c.577G>C c.(577-579)GAT>CAT p.D193H MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.D221H|MFN1_uc010hxc.2_Missense_Mutation_p.D46H NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 193 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TAGCTGGATTGATAAGTTTTG 0.338 NaN 0 0 0 0.001168 0 5 57 KNG1 3827 broad.mit.edu 37 3 186459867 186459867 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:186459867C>T uc011bsa.1 + 10 1894 c.1682C>T c.(1681-1683)TCT>TTT p.S561F KNG1_uc003fqr.2_Intron NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 561 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GTTACCTTTTCTGACTTTCAG 0.473 NaN 0 0 0 0.00308 0 8 103 MASP1 5648 broad.mit.edu 37 3 187003830 187003830 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr3:187003830T>C uc003frh.1 - 2 352 c.20A>G c.(19-21)TAT>TGT p.Y7C MASP1_uc003fri.2_Missense_Mutation_p.Y7C|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Missense_Mutation_p.Y7C|MASP1_uc011bse.1_5'UTR NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 7 complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGAGCATAATAGAGAAGCAG 0.468 NaN 0 0 0 0.001984 0 7 48 MFSD7 84179 broad.mit.edu 37 4 677066 677066 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:677066C>G uc003gay.2 - 8 1144 c.1087G>C c.(1087-1089)GAG>CAG p.E363Q MFSD7_uc003gaw.2_Missense_Mutation_p.E105Q|MFSD7_uc003gax.2_Missense_Mutation_p.E362Q|MFSD7_uc003gaz.2_Missense_Mutation_p.E244Q|MFSD7_uc003gba.2_Missense_Mutation_p.E266Q|MFSD7_uc003gbb.1_Missense_Mutation_p.E298Q NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 363 transmembrane transport integral to membrane 0 ACCGCCAACTCCATGGCCACG 0.667 NaN 0 0 0 0.00308 0 6 70 PPP2R2C 5522 broad.mit.edu 37 4 6325278 6325278 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:6325278G>T uc003gjc.2 - 9 1465 c.1095C>A c.(1093-1095)TTC>TTA p.F365L PPP2R2C_uc003gjb.2_Missense_Mutation_p.F348L|PPP2R2C_uc011bwd.1_Missense_Mutation_p.F358L|PPP2R2C_uc011bwe.1_Missense_Mutation_p.F358L|PPP2R2C_uc003gja.2_Missense_Mutation_p.F365L NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 365 WD 6. signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TGTTCCGATCGAACATGCGGA 0.622 NaN 1 0 3.59834e-05 0.001168 3.85604e-05 6 21 BOD1L 259282 broad.mit.edu 37 4 13602053 13602053 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:13602053G>C uc003gmz.1 - 10 6588 c.6471C>G c.(6469-6471)TCC>TCG p.S2157S BOD1L_uc010idr.1_Silent_p.S1494S NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2157 DNA binding ovary(5)|breast(1) 6 TTGTTGCACTGGAGATAGGCA 0.498 NaN 0 0 0 0.012319 0 21 47 AFP 174 broad.mit.edu 37 4 74320990 74320990 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:74320990G>T uc003hgz.1 + 14 1870 c.1823G>T c.(1822-1824)GGA>GTA p.G608V AFP_uc003hha.1_Intron|AFP_uc011cbg.1_Missense_Mutation_p.G382V NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 608 transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTGCTTTGGGAGTTTAAATT 0.313 NaN Alpha-Fetoprotein_Hereditary_Persistence_of 1 0 1.75199e-13 0.007291 2.07567e-13 27 57 COPS4 51138 broad.mit.edu 37 4 83989596 83989596 + Missense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:83989596A>T uc003hoa.2 + 9 1147 c.1008A>T c.(1006-1008)GAA>GAT p.E336D COPS4_uc003hob.2_Missense_Mutation_p.E336D|COPS4_uc010ijw.2_Missense_Mutation_p.E368D|COPS4_uc010ijx.2_Intron NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 336 PCI. cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) AATAGGCGGAAAAGATAGCAT 0.328 NaN 0 0 0 0.00245 0 13 52 AFF1 4299 broad.mit.edu 37 4 88036209 88036209 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:88036209C>G uc003hqj.3 + 11 2610 c.2203C>G c.(2203-2205)CGC>GGC p.R735G AFF1_uc011ccz.1_Missense_Mutation_p.R742G|AFF1_uc003hqk.3_Missense_Mutation_p.R735G|AFF1_uc011cda.1_Missense_Mutation_p.R373G NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 735 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GGAGGACAGCCGCAAAGACAG 0.607 NaN 0 0 0 0.00245 0 10 22 TACR3 6870 broad.mit.edu 37 4 104510983 104510983 + Silent SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:104510983T>C uc003hxe.1 - 5 1397 c.1254A>G c.(1252-1254)GCA>GCG p.A418A NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 418 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGGTGGTGTCTGCATCGTTGG 0.517 NaN 0 0 0 0.001855 0 13 168 COL25A1 84570 broad.mit.edu 37 4 109740467 109740467 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:109740467C>T uc003hze.1 - 35 2395 c.1864G>A c.(1864-1866)GGG>AGG p.G622R COL25A1_uc003hzd.2_Intron NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 622 Extracellular (Potential).|Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCTTTTTCCCCCTTAACGCCA 0.463 NaN 0 0 0 0.009096 0 3 26 KIAA0922 23240 broad.mit.edu 37 4 154502664 154502664 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:154502664G>A uc003inm.3 + 9 896 c.844G>A c.(844-846)GAT>AAT p.D282N KIAA0922_uc010ipp.2_Missense_Mutation_p.D282N|KIAA0922_uc010ipq.2_Missense_Mutation_p.D134N NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 282 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) ACATTTGTTAGATCATCTCTC 0.318 NaN 0 0 0 0.008871 0 20 28 FGA 2243 broad.mit.edu 37 4 155505643 155505644 + Missense_Mutation DNP CC CC AA TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:155505643_155505644CC>AA uc003iod.1 - 6 2291_2292 c.2233_2234GG>TT c.(2233-2235)GGC>TTC p.G745F NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 745 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGCCTCAGAGCCTACCCGGAAG 0.525 NaN 0 0 0 0.004672 0 14 44 WWC2 80014 broad.mit.edu 37 4 184129307 184129307 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:184129307G>C uc010irx.2 + 3 625 c.443G>C c.(442-444)AGC>ACC p.S148T WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_5'Flank NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 148 Potential. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCTCACACAAGCTGTAAGTAC 0.423 NaN 0 0 0 0.009096 0 4 13 FRG1 2483 broad.mit.edu 37 4 190862215 190862215 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:190862215C>A uc003izs.2 + 1 242 c.51C>A c.(49-51)ACC>ACA p.T17T uc003izq.2_5'Flank NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 17 Lys-rich. rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCAAGGGAACCAAGACGAAGA 0.632 NaN OREG0016457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.00909568 0.009096 0.00939809 4 15 ZNF622 90441 broad.mit.edu 37 5 16465637 16465637 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:16465637G>T uc003jfq.2 - 1 258 c.138C>A c.(136-138)GGC>GGA p.G46G NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 46 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 GCTCCTGGAAGCCCTCGGCGG 0.662 NaN 1 0 5.9392e-07 0.001168 6.62828e-07 5 169 RAI14 26064 broad.mit.edu 37 5 34823943 34823943 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:34823943A>C uc003jir.2 + 15 2192 c.1996A>C c.(1996-1998)AAA>CAA p.K666Q RAI14_uc010iur.2_Missense_Mutation_p.K637Q|RAI14_uc011coj.1_Missense_Mutation_p.K666Q|RAI14_uc003jis.2_Missense_Mutation_p.K669Q|RAI14_uc003jit.2_Missense_Mutation_p.K666Q|RAI14_uc011cok.1_Missense_Mutation_p.K658Q NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 666 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CAGGAAGAGGAAATCTCTAGA 0.448 NaN 0 0 0 0.00308 0 8 80 HCN1 348980 broad.mit.edu 37 5 45303809 45303809 + Nonsense_Mutation SNP G G A rs35229491 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:45303809G>A uc003jok.2 - 6 1535 c.1510C>T c.(1510-1512)CGA>TGA p.R504* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 504 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCTCCTTCTCGTATGATATAA 0.403 NaN 0 0 0 0.01441 0 50 152 ADAMTS6 11174 broad.mit.edu 37 5 64748566 64748566 + Missense_Mutation SNP T T G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:64748566T>G uc003jtp.2 - 5 1625 c.811A>C c.(811-813)ATT>CTT p.I271L ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 271 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TAATGTTCAATGTCTTTGCGG 0.368 NaN 0 0 0 0.005524 0 33 28 MCCC2 64087 broad.mit.edu 37 5 70930791 70930791 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:70930791C>A uc003kbs.3 + 9 963 c.825C>A c.(823-825)CAC>CAA p.H275Q MCCC2_uc010iyv.1_Missense_Mutation_p.H275Q|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.H144Q NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 275 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) TAAGTGACCACTGGGCTTTGG 0.368 NaN 1 0 9.45814e-24 0.004878 1.16853e-23 36 28 ARRDC3 57561 broad.mit.edu 37 5 90669643 90669643 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:90669643T>C uc003kjz.2 - 7 1286 c.1046A>G c.(1045-1047)TAT>TGT p.Y349C NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 349 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) CACTTCTGCATAGCTGGGTGG 0.428 NaN 0 0 0 0.004289 0 38 26 SLC12A2 6558 broad.mit.edu 37 5 127471428 127471428 + Missense_Mutation SNP A A T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:127471428A>T uc003kus.2 + 7 1500 c.1336A>T c.(1336-1338)ATT>TTT p.I446F SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.I446F NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 446 Helical; (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ACTTCTTGCTATTGGTGATTT 0.264 NaN 0 0 0 0.000602 0 3 55 ETF1 2107 broad.mit.edu 37 5 137849377 137849377 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:137849377A>C uc003ldc.3 - 5 586 c.421T>G c.(421-423)TCA>GCA p.S141A ETF1_uc011cyv.1_Missense_Mutation_p.S127A|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S108A|ETF1_uc010jey.1_5'UTR NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 141 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTATCATCTGAAAGTAGTGCT 0.403 NaN 0 0 0 0.00333 0 22 19 PCDHB5 26167 broad.mit.edu 37 5 140517289 140517289 + Nonsense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:140517289C>G uc003liq.2 + 1 2490 c.2273C>G c.(2272-2274)TCA>TGA p.S758* NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 758 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCGGAGACTCAGGGGCCGGC 0.592 NaN 0 0 0 0.00278 0 24 108 PCDHGB3 56102 broad.mit.edu 37 5 140751625 140751625 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:140751625G>A uc003ljw.1 + 1 1664 c.1664G>A c.(1663-1665)CGC>CAC p.R555H 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R555H|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 555 Extracellular (Potential).|Cadherin 5. 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) GTGGACGACCGCAACGACAAT 0.667 NaN 0 0 0 0.009096 0 3 30 FBXW11 23291 broad.mit.edu 37 5 171318553 171318553 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:171318553C>T uc003mbm.1 - 6 1078 c.707G>A c.(706-708)CGC>CAC p.R236H FBXW11_uc011dey.1_Missense_Mutation_p.R204H|FBXW11_uc003mbl.1_Missense_Mutation_p.R223H|FBXW11_uc003mbn.1_Missense_Mutation_p.R202H NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 236 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.N260_I262(1)|p.R236C(1) ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATTTTCAGAGCGGCACTGAAT 0.378 NaN 0 0 0 0.000602 0 5 44 FGFR4 2264 broad.mit.edu 37 5 176518005 176518005 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:176518005T>A uc003mfl.2 + 5 670 c.503T>A c.(502-504)GTC>GAC p.V168D FGFR4_uc003mfm.2_Missense_Mutation_p.V168D|FGFR4_uc011dfu.1_Missense_Mutation_p.V168D|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.V168D|FGFR4_uc003mfo.2_Missense_Mutation_p.V168D NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 168 Extracellular (Potential).|Ig-like C2-type 2. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) GGGAACACCGTCAAGTTCCGC 0.612 NaN TSP Lung(9;0.080) 0 0 0 0.00245 0 14 11 ZNF354C 30832 broad.mit.edu 37 5 178503483 178503483 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:178503483G>A uc003mju.2 + 3 180 c.65G>A c.(64-66)AGC>AAC p.S22N NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 22 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GTGTTCTTCAGCCAGGACGAG 0.542 NaN 0 0 0 0.001855 0 13 42 FAM50B 26240 broad.mit.edu 37 6 3850672 3850672 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:3850672G>A uc003mvu.2 + 2 739 c.627G>A c.(625-627)GTG>GTA p.V209V NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 209 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) GCAACACGGTGCAGCAGTTCC 0.647 NaN 0 0 0 0.013726 0 35 53 NKAPL 222698 broad.mit.edu 37 6 28228103 28228103 + Silent SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:28228103C>A uc003nkt.2 + 1 1006 c.954C>A c.(952-954)ATC>ATA p.I318I ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 318 upper_aerodigestive_tract(1)|ovary(1) 2 GAAAGCGAATCCCACGAAGAG 0.463 NaN 1 0 3.59834e-05 0.001168 3.85604e-05 6 105 ZFP57 346171 broad.mit.edu 37 6 29640795 29640796 + Missense_Mutation DNP GG GG CT TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:29640795_29640796GG>CT uc011dlw.1 - 4 1243_1244 c.1092_1093CC>AG c.(1090-1095)ACCCTC>ACAGTC p.L365V ZFP57_uc003nnl.3_Missense_Mutation_p.L345V NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 281 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TCCTGACAGAGGGTTCCAGTGA 0.49 NaN 0 0 0 0.004672 0 124 88 TRIM10 10107 broad.mit.edu 37 6 30128418 30128418 + Nonsense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:30128418C>T uc003npo.3 - 1 294 c.218G>A c.(217-219)TGG>TAG p.W73* TRIM10_uc003npn.2_Nonsense_Mutation_p.W73*|TRIM15_uc010jrx.2_5'Flank NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 73 cytoplasm zinc ion binding 0 AGCCAGCTGCCAGTTGGGCCG 0.592 NaN 0 0 0 0.01441 0 102 60 POU5F1 5460 broad.mit.edu 37 6 31133762 31133762 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:31133762C>G uc003nsv.2 - 2 522 c.468G>C c.(466-468)AAG>AAC p.K156N POU5F1_uc003nsu.2_Missense_Mutation_p.K61N|uc011dnf.1_RNA NM_002701 NP_002692 Q01860 PO5F1_HUMAN POU domain, class 5, transcription factor 1 156 POU-specific. anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1) 13 GGGTGATCCTCTTCTGCTTCA 0.498 NaN T EWSR1 sarcoma 0 0 0 0.014323 0 21 13 C6orf222 389384 broad.mit.edu 37 6 36291124 36291126 + Missense_Mutation TNP TGG TGG CTT TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:36291124_36291126TGG>CTT uc003oly.2 - 8 1593_1595 c.1415_1417CCA>AAG c.(1414-1419)CCCAGC>CAAGGC p.472_473PS>QG NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 472_473 skin(2)|ovary(1)|breast(1) 4 GGCAGAAAGCTGGGCCTCTTGGG 0.616 NaN 0 0 0 0.004672 0 21 64 TRERF1 55809 broad.mit.edu 37 6 42236926 42236926 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:42236926G>T uc003osd.2 - 5 966 c.403C>A c.(403-405)CTT>ATT p.L135I TRERF1_uc011duq.1_Missense_Mutation_p.L135I|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Missense_Mutation_p.L135I NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 135 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCGCTGGTAAGCTTCTGGGTC 0.562 NaN 1 0 2.18419e-29 0.01441 2.71512e-29 58 170 KHDRBS2 202559 broad.mit.edu 37 6 62887182 62887182 + Nonsense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:62887182C>A uc003peg.2 - 2 374 c.127G>T c.(127-129)GAA>TAA p.E43* NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCTTCGTCTTCCTTTTTTCCA 0.343 NaN 1 0 0.000157383 0.00308 0.000166884 7 8 PHIP 55023 broad.mit.edu 37 6 79650578 79650578 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:79650578C>G uc003pir.2 - 40 5524 c.5298G>C c.(5296-5298)ATG>ATC p.M1766I PHIP_uc003piq.2_Missense_Mutation_p.M790I|PHIP_uc011dyp.1_Missense_Mutation_p.M1765I|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.M652I NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1766 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTCTAGTTCTCATGTGGGGTT 0.408 NaN 0 0 0 0.01441 0 96 661 ORC3L 23595 broad.mit.edu 37 6 88331710 88331710 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:88331710G>C uc003pmh.2 + 11 1208 c.1164G>C c.(1162-1164)TTG>TTC p.L388F ORC3L_uc011dzl.1_Missense_Mutation_p.L388F|ORC3L_uc011dzm.1_Missense_Mutation_p.L388F|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.L388F|ORC3L_uc003pmi.2_Missense_Mutation_p.L350F|ORC3L_uc011dzo.1_Missense_Mutation_p.L245F|ORC3L_uc011dzp.1_Missense_Mutation_p.L245F NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 388 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) TTGCGCTCTTGACCAATGAGA 0.313 NaN 0 0 0 0.010729 0 10 57 MDN1 23195 broad.mit.edu 37 6 90354787 90354787 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:90354787G>A uc003pnn.1 - 101 16665 c.16549C>T c.(16549-16551)CGG>TGG p.R5517W NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5517 VWFA. protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTGCATTCCGGGCAGCCTGA 0.483 NaN 0 0 0 0.001168 0 6 48 HSF2 3298 broad.mit.edu 37 6 122733619 122733619 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:122733619G>A uc003pyu.2 + 2 382 c.195G>A c.(193-195)CTG>CTA p.L65L HSF2_uc003pyt.3_Silent_p.L65L|HSF2_uc003pyv.2_Silent_p.L65L NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 65 By similarity. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TGAGGCAACTGAATATGTGTG 0.373 NaN 0 0 0 0.01441 0 47 39 C6orf174 387104 broad.mit.edu 37 6 127796469 127796469 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr6:127796469C>A uc003qbd.2 - 6 3567 c.2702G>T c.(2701-2703)CGC>CTC p.R901L C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 901 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CTCGGCGCCGCGGTCGTCCGC 0.667 NaN 1 0 3.59834e-05 0.001168 3.85604e-05 4 68 NUDT1 4521 broad.mit.edu 37 7 2284269 2284269 + Silent SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:2284269G>C uc003slp.1 + 3 231 c.129G>C c.(127-129)CTG>CTC p.L43L FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Silent_p.L20L|NUDT1_uc003slr.1_Silent_p.L20L|NUDT1_uc003sls.1_Silent_p.L43L|NUDT1_uc003slt.1_Silent_p.L20L|NUDT1_uc003slu.1_Silent_p.L43L|NUDT1_uc003slv.1_Silent_p.L20L NM_198949 NP_945187 P36639 8ODP_HUMAN nudix-type motif 1 isoform p22 61 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding 0 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GAGTTCTCCTGGGCATGAAAA 0.602 NaN Direct_reversal_of_damage|Modulation_of_nucleotide_pools 0 0 0 0.004289 0 35 35 AOAH 313 broad.mit.edu 37 7 36633960 36633960 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:36633960A>C uc003tfh.3 - 12 1324 c.923T>G c.(922-924)CTG>CGG p.L308R AOAH_uc010kxf.2_Missense_Mutation_p.L308R|AOAH_uc011kba.1_Missense_Mutation_p.L276R NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 308 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 AGTGGAGTCCAGAAATCCTGT 0.448 NaN 0 0 0 0.009096 0 4 86 GPR141 353345 broad.mit.edu 37 7 37780823 37780823 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:37780823C>G uc003tfm.1 + 1 828 c.828C>G c.(826-828)AGC>AGG p.S276R uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 276 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 CAGCAATTAGCTGCTATGATT 0.378 NaN 0 0 0 0.008291 0 10 152 H2AFV 94239 broad.mit.edu 37 7 44880564 44880564 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:44880564G>A uc003tma.2 - 3 284 c.129C>T c.(127-129)AGC>AGT p.S43S H2AFV_uc003tlz.2_Silent_p.S43S|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Silent_p.S43S|H2AFV_uc003tmd.2_Silent_p.S17S NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 43 nucleosome assembly nucleosome|nucleus DNA binding 0 CCCTTCCATGGCTTGTGGTGC 0.512 NaN 0 0 0 0.000602 0 5 58 ABCA13 154664 broad.mit.edu 37 7 48280473 48280473 + Nonsense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:48280473C>T uc003toq.2 + 10 1097 c.1072C>T c.(1072-1074)CAG>TAG p.Q358* ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 358 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GGTGTTTGTTCAGTGGCAACA 0.408 NaN 0 0 0 0.00333 0 23 51 POM121 9883 broad.mit.edu 37 7 72412672 72412672 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:72412672T>C uc003twk.2 + 11 2140 c.2140T>C c.(2140-2142)TCC>CCC p.S714P POM121_uc003twj.2_Missense_Mutation_p.S449P|POM121_uc010lam.1_Missense_Mutation_p.S449P NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 714 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) CACCTCACCTTCCAGCCCTGC 0.607 NaN 0 0 0 0.00308 0 6 76 PILRA 29992 broad.mit.edu 37 7 99987517 99987517 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:99987517C>T uc003uuo.1 + 3 673 c.461C>T c.(460-462)ACG>ATG p.T154M PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Intron|PILRA_uc003uuq.1_Intron NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 154 Extracellular (Potential). interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCAGCTGTCACGACCACCACC 0.612 NaN 0 0 0 0.00308 0 7 62 LMOD2 442721 broad.mit.edu 37 7 123296034 123296034 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:123296034A>G uc003vky.2 + 1 174 c.17A>G c.(16-18)TAC>TGC p.Y6C NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 6 Tropomyosin-binding (By similarity). cytoskeleton actin binding|tropomyosin binding 0 ACCTTTGGCTACCGAAGAGGA 0.557 NaN 0 0 0 0.009096 0 3 6 TEX15 56154 broad.mit.edu 37 8 30704189 30704189 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:30704189C>T uc003xil.2 - 1 2345 c.2345G>A c.(2344-2346)AGG>AAG p.R782K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 782 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GAATCCTGGCCTAAATATATT 0.353 NaN 0 0 0 0.004482 0 8 85 ADAM9 8754 broad.mit.edu 37 8 38948794 38948794 + Missense_Mutation SNP C C G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:38948794C>G uc003xmr.2 + 20 2305 c.2227C>G c.(2227-2229)CAA>GAA p.Q743E ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 743 Cytoplasmic (Potential). Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TGGCAAAAATCAAGCAAACCC 0.338 NaN 0 0 0 0.001855 0 14 149 MOS 4342 broad.mit.edu 37 8 57025924 57025924 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:57025924G>T uc011leb.1 - 1 618 c.618C>A c.(616-618)AAC>AAA p.N206K NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 206 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) TGATCAAGATGTTCGCGGGCT 0.483 NaN 1 0 3.41278e-10 0.00499 3.98487e-10 18 32 NSMAF 8439 broad.mit.edu 37 8 59503463 59503463 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:59503463G>A uc003xtt.2 - 24 2196 c.1982C>T c.(1981-1983)TCA>TTA p.S661L NSMAF_uc011lee.1_Missense_Mutation_p.S692L NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 661 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TAGCATTTTTGATTCTTTAGA 0.289 NaN 0 0 0 0.010729 0 11 22 CSPP1 79848 broad.mit.edu 37 8 68049786 68049786 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:68049786G>T uc003xxi.2 + 17 2044 c.2013G>T c.(2011-2013)TGG>TGT p.W671C CSPP1_uc003xxg.1_Missense_Mutation_p.W663C|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.W636C|CSPP1_uc003xxk.2_Missense_Mutation_p.W342C NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 671 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) ATAATCCCTGGGGAAAAGGTG 0.348 NaN 1 0 9.70103e-10 0.008291 1.12298e-09 11 21 RAD54B 25788 broad.mit.edu 37 8 95392549 95392549 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:95392549C>T uc003ygk.2 - 12 2169 c.2071G>A c.(2071-2073)GAT>AAT p.D691N RAD54B_uc010may.1_Missense_Mutation_p.D498N NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GTTTGTCCATCAAGTCTTGTA 0.363 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.004656 0 23 39 HRSP12 10247 broad.mit.edu 37 8 99118512 99118512 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:99118512C>T uc003yii.1 - 3 308 c.214G>A c.(214-216)GAC>AAC p.D72N NM_005836 NP_005827 P52758 UK114_HUMAN heat-responsive protein 12 72 regulation of translational termination nucleus endonuclease activity ovary(1) 1 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) TTAGTGAAGTCACAGCCTGCA 0.363 NaN 0 0 0 0.008291 0 11 89 OXR1 55074 broad.mit.edu 37 8 107718630 107718631 + Missense_Mutation DNP GA GA TG TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:107718630_107718631GA>TG uc011lht.1 + 8 983_984 c.884_885GA>TG c.(883-885)GGA>GTG p.G295V OXR1_uc003ymf.2_Missense_Mutation_p.G294V|OXR1_uc011lhu.1_Missense_Mutation_p.G287V|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_5'UTR|OXR1_uc003ymg.1_Missense_Mutation_p.G227V|OXR1_uc003ymi.1_Missense_Mutation_p.G206V NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 295 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) CAGCTATCAGGAAGGGACTTCT 0.351 NaN 0 0 0 0.004672 0 9 62 TG 7038 broad.mit.edu 37 8 133941430 133941430 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:133941430C>T uc003ytw.2 + 23 4850 c.4809C>T c.(4807-4809)TGC>TGT p.C1603C TG_uc010mdw.2_Silent_p.C362C|TG_uc011ljb.1_Silent_p.C36C|TG_uc003ytx.1_RNA NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1603 Type IIIA. 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) TGATGCAGTGCTTGACAGGTG 0.468 NaN 0 0 0 0.004672 0 3 87 COL22A1 169044 broad.mit.edu 37 8 139833571 139833571 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:139833571G>A uc003yvd.2 - 7 1500 c.1053C>T c.(1051-1053)TTC>TTT p.F351F NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 351 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAGAACCTCGGAAGACCACCC 0.582 NaN HNSCC(7;0.00092) 0 0 0 0.001984 0 7 86 DNAI1 27019 broad.mit.edu 37 9 34514409 34514409 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:34514409C>T uc003zum.2 + 17 1780 c.1587C>T c.(1585-1587)TCC>TCT p.S529S NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 529 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AATCCTACTCCAGCCAATTCC 0.567 NaN Kartagener_syndrome 0 0 0 0.01441 0 82 63 GNE 10020 broad.mit.edu 37 9 36276944 36276944 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:36276944C>T uc010mlj.2 - 1 98 c.96G>A c.(94-96)TCG>TCA p.S32S CLTA_uc003zzf.1_Intron|GNE_uc010mli.2_5'UTR NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- Error:Variant_position_missing_in_Q9Y223_after_alignment cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) GTTTCCATCCCGAAGCACGAG 0.433 NaN 0 0 0 0.01441 0 46 68 RORB 6096 broad.mit.edu 37 9 77257389 77257389 + Missense_Mutation SNP A A G TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:77257389A>G uc004aji.2 + 4 377 c.328A>G c.(328-330)AAG>GAG p.K110E RORB_uc004ajh.2_Missense_Mutation_p.K99E NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 110 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TGAGGTgcagaagcaccagca 0.413 NaN 0 0 0 0.00308 0 7 37 NAA35 60560 broad.mit.edu 37 9 88635862 88635862 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:88635862G>T uc004aoi.3 + 22 2233 c.2096G>T c.(2095-2097)GGA>GTA p.G699V NAA35_uc004aoj.3_Missense_Mutation_p.G699V NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN corneal wound healing-related protein 699 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane skin(2)|central_nervous_system(1) 3 TTATTGGCAGGAGGACACAAA 0.313 NaN 1 0 2.56e-06 0.009096 2.81809e-06 3 27 ECM2 1842 broad.mit.edu 37 9 95285103 95285103 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:95285103G>C uc004ash.2 - 2 111 c.46C>G c.(46-48)CAA>GAA p.Q16E CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.Q16E|ECM2_uc011lty.1_Missense_Mutation_p.Q16E|ECM2_uc004asg.2_Missense_Mutation_p.Q16E|ECM2_uc011ltz.1_Missense_Mutation_p.Q16E|ECM2_uc004asi.2_Missense_Mutation_p.Q16E NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 16 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 AAGTCAGTTTGAAAAATGATA 0.338 NaN 0 0 0 0.010504 0 21 18 TNFSF8 944 broad.mit.edu 37 9 117692469 117692469 + Missense_Mutation SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:117692469A>C uc004bji.1 - 1 302 c.115T>G c.(115-117)TTC>GTC p.F39V NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 39 Helical; Signal-anchor for type II membrane protein; (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 GTCAAATAGAAATAGCTGCGG 0.592 NaN 0 0 0 0.001984 0 6 65 GARNL3 84253 broad.mit.edu 37 9 130119519 130119519 + Missense_Mutation SNP C C A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:130119519C>A uc011mae.1 + 21 2358 c.1957C>A c.(1957-1959)CCC>ACC p.P653T GARNL3_uc011mad.1_Missense_Mutation_p.P631T|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 653 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTCTGACTCTCCCATGGTGAT 0.527 NaN 1 0 1.33834e-09 0.007413 1.54482e-09 15 28 KIAA0649 9858 broad.mit.edu 37 9 138379116 138379116 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr9:138379116C>T uc004cfr.1 + 4 3309 c.2760C>T c.(2758-2760)TTC>TTT p.F920F NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 920 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CTGGTCTGTTCAGCCAGGGCG 0.701 NaN 0 0 0 0.004656 0 27 68 CCNB3 85417 broad.mit.edu 37 X 50094645 50094645 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:50094645G>T uc004dox.3 + 13 4429 c.4131G>T c.(4129-4131)ATG>ATT p.M1377I CCNB3_uc004doy.2_Missense_Mutation_p.M1377I|CCNB3_uc004doz.2_Missense_Mutation_p.M273I|CCNB3_uc010njq.2_Missense_Mutation_p.M269I|CCNB3_uc004dpa.2_Missense_Mutation_p.M216I NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1377 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CCTTGGATATGTTGAAGCTGG 0.473 NaN 1 0 3.09899e-07 0.004482 3.46812e-07 7 12 TGIF2LX 90316 broad.mit.edu 37 X 89177393 89177393 + Missense_Mutation SNP T T A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:89177393T>A uc004efe.2 + 2 358 c.309T>A c.(307-309)AAT>AAA p.N103K NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 103 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GGTTTATCAATGCTCGCAGAC 0.473 NaN 0 0 0 0.014323 0 23 88 COL4A6 1288 broad.mit.edu 37 X 107413848 107413848 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:107413848C>T uc004enw.3 - 35 3590 c.3487G>A c.(3487-3489)GGA>AGA p.G1163R COL4A6_uc004env.3_Missense_Mutation_p.G1162R|COL4A6_uc011msn.1_Missense_Mutation_p.G1162R|COL4A6_uc010npk.2_Missense_Mutation_p.G1162R NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1163 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCTTTGGGTCCTATTAATCCG 0.498 NaN Alport_syndrome_with_Diffuse_Leiomyomatosis 0 0 0 0.009718 0 36 56 COL4A5 1287 broad.mit.edu 37 X 107850090 107850090 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:107850090G>A uc004enz.1 + 29 2565 c.2363G>A c.(2362-2364)CGC>CAC p.R788H COL4A5_uc011mso.1_Missense_Mutation_p.R788H|COL4A5_uc004eob.1_Missense_Mutation_p.R396H NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 788 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CCTCCAGGACGCACTGGCTTA 0.517 NaN Alport_syndrome_with_Diffuse_Leiomyomatosis 0 0 0 0.008871 0 19 17 MOSPD1 56180 broad.mit.edu 37 X 134033531 134033531 + Translation_Start_Site SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:134033531G>C uc004eyb.2 - 2 120 c.-67C>G c.(-69--65)ATCTA>ATGTA MOSPD1_uc004eya.2_Translation_Start_Site|MOSPD1_uc010nrv.2_RNA|MOSPD1_uc011mvr.1_Translation_Start_Site NM_019556 NP_062456 Q9UJG1 MSPD1_HUMAN motile sperm domain containing 1 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter integral to membrane|nucleus|perinuclear region of cytoplasm structural molecule activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(192;0.000127) ACTTTTCTTAGATTCAGTTAA 0.363 NaN 0 0 0 0.013537 0 12 10 SPANXE 171489 broad.mit.edu 37 X 140785779 140785779 + Missense_Mutation SNP T T C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:140785779T>C uc004fbq.2 - 2 230 c.137A>G c.(136-138)GAG>GGG p.E46G NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN SPANX family, member E 46 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) GGTCGAGGACTCAGATGTTTT 0.493 NaN 0 0 0 0.001984 0 7 88 MAGEC3 139081 broad.mit.edu 37 X 140969237 140969237 + Silent SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chrX:140969237G>T uc011mwp.1 + 4 564 c.564G>T c.(562-564)GTG>GTT p.V188V NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 188 MAGE 1. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATGAAAAGGTGGACAAGTTGG 0.453 NaN 1 0 1.32136e-16 0.00874 1.59352e-16 43 26 HMCN1 83872 broad.mit.edu 37 1 186023082 186023082 + Frame_Shift_Del DEL G G - TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr1:186023082delG uc001grq.1 + 44 7055 c.6826delG c.(6826-6828)GGGfs p.G2276fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2276 Ig-like C2-type 20. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAATGTTGCTGGGACTGCAAA 0.398 NaN NaN NaN NaN NaN NaN 11 93 --- --- FAM181A 90050 broad.mit.edu 37 14 94391663 94391664 + Frame_Shift_Ins INS - - A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr14:94391663_94391664insA uc001ybz.1 + 2 353_354 c.46_47insA c.(46-48)GCCfs p.A16fs C14orf86_uc001yby.2_Intron|FAM181A_uc010aus.1_5'Flank|FAM181A_uc001yca.1_5'Flank NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 16 0 GAATGATGCAGCCCCCACAAAT 0.53 NaN NaN NaN NaN NaN NaN 12 35 --- --- CCPG1 9236 broad.mit.edu 37 15 55652875 55652876 + Frame_Shift_Ins INS - - T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr15:55652875_55652876insT uc002acv.1 - 8 1260_1261 c.1095_1096insA c.(1093-1098)AAACACfs p.K365fs CCPG1_uc002acy.2_Frame_Shift_Ins_p.K365fs|CCPG1_uc002acu.1_Frame_Shift_Ins_p.K221fs|CCPG1_uc002acw.1_Frame_Shift_Ins_p.K90fs|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Frame_Shift_Ins_p.K365fs|CCPG1_uc002acz.1_Frame_Shift_Ins_p.K365fs NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 365_366 Potential.|Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) AGAAAGCTGTGTTTTTTCTGCT 0.386 NaN NaN NaN NaN NaN NaN 23 100 --- --- KIAA1310 55683 broad.mit.edu 37 2 97275285 97275287 + In_Frame_Del DEL TTT TTT - TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:97275285_97275287delTTT uc002swn.3 - 12 1478_1480 c.1332_1334delAAA c.(1330-1335)GCAAAG>GCG p.K447del KIAA1310_uc002swh.3_In_Frame_Del_p.K335del|KIAA1310_uc002swi.3_In_Frame_Del_p.K348del|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_In_Frame_Del_p.K360del|KIAA1310_uc010fhz.2_In_Frame_Del_p.K241del|KIAA1310_uc002swl.3_In_Frame_Del_p.K348del|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_In_Frame_Del_p.K241del|KIAA1310_uc002swp.1_In_Frame_Del_p.K348del|KIAA1310_uc002swq.1_In_Frame_Del_p.K219del|KIAA1310_uc010fhy.1_In_Frame_Del_p.K348del NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 447 0 TGATTTCTTCTTTGCTTTGCTTA 0.384 NaN NaN NaN NaN NaN NaN 9 322 --- --- IRS1 3667 broad.mit.edu 37 2 227660807 227660808 + In_Frame_Ins INS - - GCT TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr2:227660807_227660808insGCT uc002voh.3 - 1 2699_2700 c.2647_2648insAGC c.(2647-2649)CCC>CAGCCC p.882_883insQ NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 882_883 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GTGCAGCAAGGgctgctgctgc 0.554 NaN NaN NaN NaN NaN NaN 13 39 --- --- TACC3 10460 broad.mit.edu 37 4 1746465 1746472 + Frame_Shift_Del DEL GGAGCAAG GGAGCAAG - TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:1746465_1746472delGGAGCAAG uc003gdo.2 + 15 2465_2472 c.2357_2364delGGAGCAAG c.(2356-2364)CGGAGCAAGfs p.R786fs TACC3_uc003gdp.2_Frame_Shift_Del_p.R426fs|TACC3_uc010ica.2_Frame_Shift_Del_p.R207fs NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 786_788 Potential. centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GCCCAGGTCCGGAGCAAGGCCCAGGCGG 0.673 NaN NaN NaN NaN NaN NaN 7 28 --- --- THAP9 79725 broad.mit.edu 37 4 83839377 83839377 + Frame_Shift_Del DEL T T - TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr4:83839377delT uc003hnt.2 + 5 2131 c.2012delT c.(2011-2013)CTTfs p.L671fs THAP9_uc003hns.1_Frame_Shift_Del_p.L527fs|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Frame_Shift_Del_p.L388fs NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 671 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) GACTTGGCGCTTTGGACAGTT 0.393 NaN NaN NaN NaN NaN NaN 13 105 --- --- SH3PXD2B 285590 broad.mit.edu 37 5 171765673 171765674 + Frame_Shift_Ins INS - - A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr5:171765673_171765674insA uc003mbr.2 - 13 2606_2607 c.2435_2436insT c.(2434-2436)TTGfs p.L812fs NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 812 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTGGCCCCCCAAAGAGTTGGA 0.609 NaN NaN NaN NaN NaN NaN 17 15 --- --- OSBPL3 26031 broad.mit.edu 37 7 24849496 24849503 + Frame_Shift_Del DEL CCGATGAA CCGATGAA - TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr7:24849496_24849503delCCGATGAA uc003sxf.2 - 20 2645_2652 c.2240_2247delTTCATCGG c.(2239-2247)GTTCATCGGfs p.V747fs OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Frame_Shift_Del_p.V711fs|OSBPL3_uc003sxh.2_Frame_Shift_Del_p.V716fs|OSBPL3_uc003sxi.2_Frame_Shift_Del_p.V680fs NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 747_749 lipid transport lipid binding|protein binding skin(1) 1 TCCCAAACAGCCGATGAACCGCTTTTCC 0.5 NaN NaN NaN NaN NaN NaN 68 160 --- --- RAD54B 25788 broad.mit.edu 37 8 95392597 95392609 + Frame_Shift_Del DEL TGTTCAAGGTTTG TGTTCAAGGTTTG - rs76782918 TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bbffe-7587-4ad0-b3b4-68e64080e216 e6ea3eed-7b54-4b01-bc07-ce26cb941982 g.chr8:95392597_95392609delTGTTCAAGGTTTG uc003ygk.2 - 12 2109_2121 c.2011_2023delCAAACCTTGAACA c.(2011-2025)CAAACCTTGAACATTfs p.Q671fs RAD54B_uc010may.1_Frame_Shift_Del_p.Q478fs NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_28 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TCTTGTAAAATGTTCAAGGTTTGTGTATAGTTG 0.347 NaN Direct_reversal_of_damage|Homologous_recombination NaN NaN NaN NaN NaN 11 56 --- ---