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 ATAD3C 219293 broad.mit.edu 37 1 1403804 1403804 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:1403804C>T uc001aft.2 + 12 2125 c.1130C>T c.(1129-1131)GCC>GTC p.A377V NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 377 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTGACCGAGGCCATGATGGAC 0.657000 CHD5 26038 broad.mit.edu 37 1 6184073 6184073 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:6184073G>A uc001amb.1 - 31 4734 c.4634C>T c.(4633-4635)TCG>TTG p.S1545L CHD5_uc001alz.1_Missense_Mutation_p.S402L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1545 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTTGGGGTCCGAGGAGATCAC 0.667000 CLCNKB 1188 broad.mit.edu 37 1 16374443 16374443 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:16374443C>T uc001axw.3 + 5 482 c.402C>T c.(400-402)GTC>GTT p.V134V FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.V134V|CLCNKB_uc001axy.3_5'Flank NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 134 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) CGGGTGTGGTCTTGGAGGACT 0.577000 EPHA8 2046 broad.mit.edu 37 1 22913046 22913046 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:22913046C>T uc001bfx.1 + 4 1022 c.897C>T c.(895-897)TCC>TCT p.S299S EPHA8_uc001bfw.2_Silent_p.S299S NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 299 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACAGCCACTCCGCAGCTCCAG 0.667000 ZMYND12 84217 broad.mit.edu 37 1 42921644 42921644 + Missense_Mutation SNP C C G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:42921644C>G uc001chj.2 - 1 295 c.25G>C c.(25-27)GTC>CTC p.V9L ZMYND12_uc010ojt.1_5'UTR|PPCS_uc001chk.2_5'Flank|PPCS_uc001chl.2_5'Flank NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 9 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCCTTGGGGACTGCCAGTGGG 0.612000 GPATCH4 54865 broad.mit.edu 37 1 156566248 156566248 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:156566248C>T uc001fpm.2 - 6 410 c.371G>A c.(370-372)GGA>GAA p.G124E APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.G119E NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 119 intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGCTTCTCTCCACCTGAAGT 0.502000 OR6K2 81448 broad.mit.edu 37 1 158670349 158670349 + Missense_Mutation SNP G G T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:158670349G>T uc001fsu.1 - 1 94 c.94C>A c.(94-96)CTC>ATC p.L32I NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TAGATGAAGAGCAGTGGAACA 0.453000 MNDA 4332 broad.mit.edu 37 1 158819008 158819008 + Missense_Mutation SNP G G T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:158819008G>T uc001fsz.1 + 7 1405 c.1205G>T c.(1204-1206)GGA>GTA p.G402V NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 402 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) AACAAGGAAGGACCAATGAAT 0.318000 DDR2 4921 broad.mit.edu 37 1 162724593 162724593 + Missense_Mutation SNP A A G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr1:162724593A>G uc001gcf.2 + 6 830 c.365A>G c.(364-366)TAC>TGC p.Y122C DDR2_uc001gcg.2_Missense_Mutation_p.Y122C NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 122 Extracellular (Potential).|F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) AAGATCAATTACAGTCGGGAT 0.522000 ZNF438 220929 broad.mit.edu 37 10 31134426 31134426 + Missense_Mutation SNP G G C rs146555674 by1000genomes TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr10:31134426G>C uc010qdz.1 - 8 2386 c.1951C>G c.(1951-1953)CGT>GGT p.R651G ZNF438_uc001ivn.2_Missense_Mutation_p.R602G|ZNF438_uc010qdy.1_Missense_Mutation_p.R641G|ZNF438_uc001ivo.3_Missense_Mutation_p.R215G|ZNF438_uc009xlg.2_Missense_Mutation_p.R651G|ZNF438_uc001ivp.3_Missense_Mutation_p.R641G|ZNF438_uc010qea.1_Missense_Mutation_p.R651G|ZNF438_uc010qeb.1_Missense_Mutation_p.R651G NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) ATCTGACAACGACCACATTTG 0.408000 ACTA2 59 broad.mit.edu 37 10 90699289 90699289 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr10:90699289C>T uc001kfp.2 - 7 899 c.783G>A c.(781-783)GAG>GAA p.E261E STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.E216E|ACTA2_uc001kfq.2_Silent_p.E261E|uc001kfo.1_RNA NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 261 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) GGAACAGGGTCTCTGGGCAGC 0.532000 NLRP10 338322 broad.mit.edu 37 11 7981973 7981973 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:7981973C>T uc001mfv.1 - 2 1203 c.1186G>A c.(1186-1188)GAT>AAT p.D396N NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 396 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCATCATCATCGGGCGGCAGA 0.557000 KCNJ11 3767 broad.mit.edu 37 11 17409232 17409232 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:17409232C>T uc001mna.2 - 1 975 c.407G>A c.(406-408)CGC>CAC p.R136H KCNJ11_uc001mnb.3_Missense_Mutation_p.R49H NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 136 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) AGTCACCATGCGCCCCCCAAA 0.562000 DGKZ 8525 broad.mit.edu 37 11 46400600 46400600 + Silent SNP G G A rs142962841 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:46400600G>A uc001ncn.1 + 29 3167 c.3042G>A c.(3040-3042)ACG>ACA p.T1014T DGKZ_uc001nch.1_Silent_p.T842T|DGKZ_uc010rgq.1_3'UTR|DGKZ_uc001ncj.1_Silent_p.T792T|DGKZ_uc010rgr.1_Silent_p.T791T|DGKZ_uc001nck.1_Silent_p.T604T|DGKZ_uc001ncl.2_Silent_p.T826T|DGKZ_uc001ncm.2_Silent_p.T825T|DGKZ_uc009yky.1_Silent_p.T826T|DGKZ_uc010rgs.1_Silent_p.T803T|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank|MDK_uc001ncp.2_5'Flank|MDK_uc009yla.2_5'Flank|MDK_uc009ylb.2_5'Flank|MDK_uc001ncq.2_5'Flank|MDK_uc001ncr.2_5'Flank|MDK_uc001ncs.2_5'Flank NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 1014 ANK 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AGAGTCGCACGCTCCTGCACC 0.692000 ARFGAP2 84364 broad.mit.edu 37 11 47188381 47188381 + Missense_Mutation SNP G G A rs139591977 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:47188381G>A uc001ndt.2 - 13 1277 c.1262C>T c.(1261-1263)GCG>GTG p.A421V ARFGAP2_uc010rha.1_Missense_Mutation_p.A152V|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A393V|ARFGAP2_uc001ndu.2_Missense_Mutation_p.A285V|ARFGAP2_uc010rhc.1_Missense_Mutation_p.A152V NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 421 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 TTTCTGACGCGCCTCACTAGA 0.567000 MADD 8567 broad.mit.edu 37 11 47296188 47296188 + Missense_Mutation SNP T T G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:47296188T>G uc001ner.1 + 3 328 c.137T>G c.(136-138)TTT>TGT p.F46C MADD_uc001neq.2_Missense_Mutation_p.F46C|MADD_uc001nev.1_Missense_Mutation_p.F46C|MADD_uc001nes.1_Missense_Mutation_p.F46C|MADD_uc001net.1_Missense_Mutation_p.F46C|MADD_uc009yln.1_Missense_Mutation_p.F46C|MADD_uc001neu.1_Missense_Mutation_p.F46C|MADD_uc001nex.2_Missense_Mutation_p.F46C|MADD_uc001nez.2_Missense_Mutation_p.F46C|MADD_uc001new.2_Missense_Mutation_p.F46C NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 46 UDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CACACTGAGTTTCCCCTGCCC 0.567000 FNBP4 23360 broad.mit.edu 37 11 47765704 47765704 + Silent SNP T T G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:47765704T>G uc009ylv.2 - 8 1410 c.1257A>C c.(1255-1257)CGA>CGC p.R419R FNBP4_uc001ngj.2_Silent_p.R326R|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 419 ovary(1) 1 CCTCCAAGGCTCGCAACTCTG 0.388000 SYVN1 84447 broad.mit.edu 37 11 64897313 64897313 + Missense_Mutation SNP G G T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:64897313G>T uc001odb.2 - 14 1577 c.1483C>A c.(1483-1485)CAT>AAT p.H495N SYVN1_uc001odc.2_Missense_Mutation_p.H494N|SYVN1_uc009yqc.2_Missense_Mutation_p.H443N NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 495 Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 TGCCGCTCATGGCCCTCCAGA 0.652000 FAT3 120114 broad.mit.edu 37 11 92577863 92577863 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:92577863C>T uc001pdj.3 + 18 11347 c.11330C>T c.(11329-11331)CCG>CTG p.P3777L FAT3_uc001pdi.3_Missense_Mutation_p.P217L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3777 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTGTGTGTCCGCGTTTCTAC 0.517000 TCGA Ovarian(4;0.039) CCDC84 338657 broad.mit.edu 37 11 118886110 118886110 + Missense_Mutation SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:118886110T>C uc001pul.2 + 10 955 c.899T>C c.(898-900)TTT>TCT p.F300S CCDC84_uc010ryk.1_RNA|CCDC84_uc010ryl.1_RNA|CCDC84_uc010rym.1_RNA NM_198489 NP_940891 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 300 ovary(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CTGCCCTCTTTTGGCCGCGTC 0.542000 NTM 50863 broad.mit.edu 37 11 131781508 131781508 + Missense_Mutation SNP G G C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:131781508G>C uc001qgp.2 + 1 797 c.133G>C c.(133-135)GTG>CTG p.V45L NTM_uc001qgm.2_Missense_Mutation_p.V45L|NTM_uc010sch.1_Missense_Mutation_p.V36L|NTM_uc010sci.1_Missense_Mutation_p.V45L|NTM_uc010scj.1_Missense_Mutation_p.V4L|NTM_uc001qgo.2_Missense_Mutation_p.V45L|NTM_uc001qgq.2_Missense_Mutation_p.V45L NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 45 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 TATGGACAACGTGACGGTCCG 0.617000 OREG0021537 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GLB1L2 89944 broad.mit.edu 37 11 134238552 134238552 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr11:134238552G>A uc001qhp.2 + 10 1092 c.904G>A c.(904-906)GTG>ATG p.V302M GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 302 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TTTGAAAACCGTGTCTGCCAT 0.532000 A2ML1 144568 broad.mit.edu 37 12 9001452 9001452 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr12:9001452G>A uc001quz.3 + 16 2068 c.1970G>A c.(1969-1971)CGT>CAT p.R657H A2ML1_uc001qva.1_Missense_Mutation_p.R237H|A2ML1_uc010sgm.1_Missense_Mutation_p.R157H NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 501 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TCGAGCCAGCGTTCCATTATC 0.522000 HOXC12 3228 broad.mit.edu 37 12 54348852 54348852 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr12:54348852C>T uc010soq.1 + 1 139 c.139C>T c.(139-141)CGC>TGC p.R47C NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 47 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 CTACCCACGCCGCGACAACGT 0.672000 CHST11 50515 broad.mit.edu 37 12 105150997 105150997 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr12:105150997G>A uc001tkx.1 + 4 766 c.475G>A c.(475-477)GCC>ACC p.A159T CHST11_uc001tky.2_Missense_Mutation_p.A154T|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 159 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 ACACGTCTCCGCCAACCTGAA 0.592000 CLIP1 6249 broad.mit.edu 37 12 122757592 122757592 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr12:122757592C>T uc001ucg.1 - 25 4253 c.4147G>A c.(4147-4149)GAC>AAC p.D1383N CLIP1_uc001uch.1_Missense_Mutation_p.D1372N|CLIP1_uc001uci.1_Missense_Mutation_p.D1337N|CLIP1_uc001ucf.1_Missense_Mutation_p.D42N NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1383 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCAAAGCAGTCACAAATGTCA 0.468000 MAB21L1 4081 broad.mit.edu 37 13 36049251 36049251 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr13:36049251G>A uc001uvc.2 - 1 1582 c.1025C>T c.(1024-1026)ACG>ATG p.T342M NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 342 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CAGTCGCCACGTTTGTTTGGC 0.473000 ATP11A 23250 broad.mit.edu 37 13 113526064 113526064 + Missense_Mutation SNP A A G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr13:113526064A>G uc001vsi.3 + 26 3095 c.3007A>G c.(3007-3009)ACG>GCG p.T1003A ATP11A_uc001vsj.3_Missense_Mutation_p.T1003A|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1003 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TGGAAACTGGACGTTTGGAAC 0.428000 OR4N2 390429 broad.mit.edu 37 14 20296316 20296316 + Missense_Mutation SNP A A T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr14:20296316A>T uc010tkv.1 + 1 709 c.709A>T c.(709-711)ATG>TTG p.M237L NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAACAAGGCCATGTCCACGTG 0.502000 OR4K13 390433 broad.mit.edu 37 14 20502652 20502652 + Missense_Mutation SNP C C A rs138902767 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr14:20502652C>A uc010tkz.1 - 1 266 c.266G>T c.(265-267)CGT>CTT p.R89L NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GATGGTCTTACGTTCTCGGAG 0.458000 NIN 51199 broad.mit.edu 37 14 51243828 51243828 + Missense_Mutation SNP A A C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr14:51243828A>C uc001wym.2 - 7 696 c.505T>G c.(505-507)TTG>GTG p.L169V NIN_uc001wyi.2_Missense_Mutation_p.L169V|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.L169V|NIN_uc010tqp.1_Missense_Mutation_p.L175V|NIN_uc001wyo.2_Missense_Mutation_p.L169V|NIN_uc001wyp.1_Missense_Mutation_p.L131V NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 169 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) GAAGCATTCAAGTCATCTGGG 0.448000 T PDGFRB MPD C14orf37 145407 broad.mit.edu 37 14 58605379 58605379 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr14:58605379G>A uc001xdc.2 - 2 809 c.698C>T c.(697-699)ACA>ATA p.T233I C14orf37_uc010tro.1_Missense_Mutation_p.T271I|C14orf37_uc001xdd.2_Missense_Mutation_p.T233I|C14orf37_uc001xde.2_Missense_Mutation_p.T233I NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 233 Extracellular (Potential). integral to membrane binding 0 AAAAGAAGTTGTCCTGTGGTC 0.483000 PLEKHG3 26030 broad.mit.edu 37 14 65207762 65207762 + Silent SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr14:65207762G>A uc001xho.1 + 16 1796 c.1527G>A c.(1525-1527)CCG>CCA p.P509P PLEKHG3_uc001xhn.1_Silent_p.P453P|PLEKHG3_uc001xhp.2_Silent_p.P630P|PLEKHG3_uc010aqh.1_Silent_p.P51P|PLEKHG3_uc001xhq.1_Silent_p.P14P NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 509 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGGTTGAGCCGGACCCTGAGG 0.552000 GALNTL1 57452 broad.mit.edu 37 14 69805397 69805397 + Missense_Mutation SNP G G T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr14:69805397G>T uc010aqu.1 + 10 1090 c.997G>T c.(997-999)GGC>TGC p.G333C GALNTL1_uc001xla.1_Missense_Mutation_p.G333C|GALNTL1_uc001xlb.1_Missense_Mutation_p.G333C NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 333 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GATGTGTGGTGGCAGTCTGGA 0.587000 APBA2 321 broad.mit.edu 37 15 29346255 29346255 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr15:29346255C>T uc001zck.2 + 3 375 c.168C>T c.(166-168)CCC>CCT p.P56P APBA2_uc010azj.2_Silent_p.P56P|APBA2_uc010uat.1_Silent_p.P56P|APBA2_uc001zcl.2_Silent_p.P56P|APBA2_uc010uas.1_Silent_p.P56P NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 56 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CAGAGAGCCCCGCGCCAGAGG 0.657000 DMXL2 23312 broad.mit.edu 37 15 51749571 51749571 + Missense_Mutation SNP G G C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr15:51749571G>C uc002abf.2 - 36 8450 c.8225C>G c.(8224-8226)TCT>TGT p.S2742C DMXL2_uc002abd.2_Missense_Mutation_p.S834C|DMXL2_uc010ufy.1_Missense_Mutation_p.S2743C|DMXL2_uc010bfa.2_Missense_Mutation_p.S2106C NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2742 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CCATGGCAGAGATGAAGGTGG 0.428000 BBS4 585 broad.mit.edu 37 15 73029293 73029293 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr15:73029293C>T uc002avb.2 + 15 1482 c.1439C>T c.(1438-1440)ACG>ATG p.T480M BBS4_uc010ukv.1_Missense_Mutation_p.T468M|BBS4_uc002avc.2_Missense_Mutation_p.T308M|BBS4_uc002avd.2_Missense_Mutation_p.T488M NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 480 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 GCATACAGGACGCTCCCCTCA 0.522000 Bardet-Biedl_syndrome ACAN 176 broad.mit.edu 37 15 89391173 89391173 + Missense_Mutation SNP G G A rs62640041 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr15:89391173G>A uc010upo.1 + 9 2010 c.1636G>A c.(1636-1638)GTG>ATG p.V546M ACAN_uc002bmx.2_Missense_Mutation_p.V546M|ACAN_uc010upp.1_Missense_Mutation_p.V546M|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 546 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GACCCCATGCGTGGGTGACAA 0.592000 IL21R 50615 broad.mit.edu 37 16 27460309 27460309 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr16:27460309C>T uc002doq.1 + 9 1555 c.1322C>T c.(1321-1323)CCC>CTC p.P441L IL21R_uc002dor.1_Missense_Mutation_p.P441L|IL21R_uc002dos.1_Missense_Mutation_p.P441L|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 441 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CTAGGAGGGCCCCTGGGAAGC 0.667000 T BCL6 NHL CES7 221223 broad.mit.edu 37 16 55880585 55880585 + Silent SNP A A G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr16:55880585A>G uc002eip.2 - 13 1655 c.1506T>C c.(1504-1506)AAT>AAC p.N502N CES7_uc002eio.2_Silent_p.N452N|CES7_uc002eiq.2_Silent_p.N263N|CES7_uc002eir.2_Silent_p.N396N NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 502 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) GGTCGTTCCCATTAGGATTCC 0.547000 GOT2 2806 broad.mit.edu 37 16 58752443 58752443 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr16:58752443C>T uc002eof.1 - 5 699 c.585G>A c.(583-585)GTG>GTA p.V195V GOT2_uc010vim.1_Silent_p.V152V NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 195 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AAATATCCTCCACAGCGCCTG 0.488000 CDH8 1006 broad.mit.edu 37 16 61823293 61823293 + Silent SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr16:61823293T>C uc002eog.1 - 8 1623 c.1371A>G c.(1369-1371)GAA>GAG p.E457E CDH8_uc002eoh.2_Silent_p.E226E NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 457 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATACACTTAATTCTCTGTCAA 0.413000 PITPNM3 83394 broad.mit.edu 37 17 6368010 6368010 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr17:6368010C>T uc002gdd.3 - 15 2123 c.1972G>A c.(1972-1974)GGG>AGG p.G658R PITPNM3_uc010cln.2_Missense_Mutation_p.G622R|PITPNM3_uc010clm.2_Missense_Mutation_p.G141R|PITPNM3_uc002gdc.3_Missense_Mutation_p.G249R NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 658 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) TCGAGGGGCCCGTACATGAAC 0.607000 TP53 7157 broad.mit.edu 37 17 7577497 7577497 + Splice_Site SNP A A C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr17:7577497A>C uc002gim.2 - 7 976 c.782_splice c.e7+1 p.S261_splice TP53_uc002gig.1_Splice_Site_p.R261_splice|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.0?(7)|p.?(3)|p.E258fs*71(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) GTGGCTCCTGACCTGGAGTCT 0.572000 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) FOXN1 8456 broad.mit.edu 37 17 26851007 26851007 + Missense_Mutation SNP C C T rs148865374 byFrequency TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr17:26851007C>T uc010crm.2 + 2 218 c.20C>T c.(19-21)CCG>CTG p.P7L FOXN1_uc002hbj.2_Missense_Mutation_p.P7L NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 7 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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 skin(1) 1 Lung NSC(42;0.00431) CTACCCCCGCCGCAGTCTGAC 0.677000 AARSD1 80755 broad.mit.edu 37 17 41108328 41108328 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr17:41108328G>A uc002icc.2 - 6 559 c.556C>T c.(556-558)CGG>TGG p.R186W AARSD1_uc002icd.2_Missense_Mutation_p.R299W|AARSD1_uc002ice.2_Missense_Mutation_p.R269W|AARSD1_uc002icf.2_Missense_Mutation_p.R360W|AARSD1_uc010whg.1_Missense_Mutation_p.R360W|AARSD1_uc010cyu.1_Missense_Mutation_p.R186W NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 186 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GGCAAACCCCGGCCACTCACC 0.542000 TMC6 11322 broad.mit.edu 37 17 76121030 76121030 + Silent SNP G G C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr17:76121030G>C uc002juj.1 - 6 699 c.573C>G c.(571-573)GGC>GGG p.G191G TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Silent_p.G24G|TMC6_uc002juk.2_Silent_p.G191G|TMC6_uc010dhg.1_Silent_p.G191G|TMC6_uc002jul.1_Silent_p.G191G|TMC6_uc002jum.3_Silent_p.G24G|TMC6_uc002jun.3_Silent_p.G191G|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_Silent_p.G24G NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 191 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGCCCGGCTGGCCCCTCCACT 0.692000 Epidermodysplasia_Verruciformis_Familial_Clustering_of ZNF536 9745 broad.mit.edu 37 19 31040279 31040279 + Silent SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr19:31040279G>A uc002nsu.1 + 4 3891 c.3753G>A c.(3751-3753)CCG>CCA p.P1251P ZNF536_uc010edd.1_Silent_p.P1251P NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGCCAAAGCCGGAGCGGGGGC 0.607000 PPFIA3 8541 broad.mit.edu 37 19 49646220 49646220 + Missense_Mutation SNP G G T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr19:49646220G>T uc002pmr.2 + 21 3036 c.2704G>T c.(2704-2706)GTC>TTC p.V902F PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.V770F|PPFIA3_uc002pmt.2_Missense_Mutation_p.V50F NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 902 SAM 1. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CCAGGAGATGGTCTCGCTCAC 0.652000 ZNF530 348327 broad.mit.edu 37 19 58118470 58118470 + Missense_Mutation SNP A A C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr19:58118470A>C uc002qpk.2 + 3 1797 c.1577A>C c.(1576-1578)AAA>ACA p.K526T ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 526 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAATGTGGGAAATCCTATAGC 0.453000 MXD1 4084 broad.mit.edu 37 2 70165237 70165237 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:70165237G>A uc002sfy.2 + 6 747 c.487G>A c.(487-489)GAC>AAC p.D163N MXD1_uc010yqp.1_Missense_Mutation_p.D162N|MXD1_uc010yqq.1_Missense_Mutation_p.D100N|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.D153N NM_002357 NP_002348 Q05195 MAD1_HUMAN MAX dimerization protein 1 163 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 AGAAGAAATCGACGTTGACGT 0.453000 ADD2 119 broad.mit.edu 37 2 70910804 70910804 + Silent SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:70910804G>A uc002sgz.2 - 10 1509 c.1044C>T c.(1042-1044)GCC>GCT p.A348A ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.A348A|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Silent_p.A348A|ADD2_uc010fdt.1_Silent_p.A348A|ADD2_uc002shc.1_Silent_p.A348A|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Silent_p.A364A NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 348 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 AGGTGCTCCCGGCCCACTGCA 0.627000 TGFBRAP1 9392 broad.mit.edu 37 2 105890146 105890146 + Missense_Mutation SNP A A G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:105890146A>G uc002tcq.2 - 9 1751 c.1667T>C c.(1666-1668)GTC>GCC p.V556A TGFBRAP1_uc010fjc.2_Intron|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.V556A NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 556 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 CTGAACTCCGACCTGAAAGAG 0.398000 IL1F6 27179 broad.mit.edu 37 2 113763626 113763626 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:113763626C>T uc010yxr.1 + 2 86 c.86C>T c.(85-87)ACG>ATG p.T29M NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN interleukin 1 family, member 6 (epsilon) 29 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding 0 CAGGACCAGACGCTCATAGCA 0.498000 LYPD1 116372 broad.mit.edu 37 2 133403681 133403681 + Silent SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:133403681G>A uc002ttn.2 - 3 1339 c.363C>T c.(361-363)CTC>CTT p.L121L GPR39_uc002ttl.2_3'UTR|LYPD1_uc002ttm.3_Silent_p.L137L|LYPD1_uc002tto.2_Silent_p.L69L NM_144586 NP_653187 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 isoform a 121 anchored to membrane|plasma membrane 0 GCCCTGGCCTGAGGGCCGAGG 0.572000 XRCC5 7520 broad.mit.edu 37 2 216997075 216997075 + Nonsense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:216997075C>T uc002vfy.2 + 10 1218 c.1078C>T c.(1078-1080)CAA>TAA p.Q360* XRCC5_uc002vfz.2_Nonsense_Mutation_p.Q246* NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 360 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) CATGGGAAATCAAGTTCTAAA 0.383000 Direct_reversal_of_damage|NHEJ CXCR2 3579 broad.mit.edu 37 2 218999946 218999946 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:218999946G>A uc002vgz.1 + 4 647 c.422G>A c.(421-423)AGT>AAT p.S141N CXCR2_uc002vha.1_Missense_Mutation_p.S141N|CXCR2_uc002vhb.1_Missense_Mutation_p.S141N NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 141 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 GCCTGCATCAGTGTGGACCGT 0.512000 SP140 11262 broad.mit.edu 37 2 231152636 231152636 + Missense_Mutation SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr2:231152636T>C uc002vql.2 + 18 1790 c.1675T>C c.(1675-1677)TTC>CTC p.F559L SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.F445L|SP140_uc002vqm.2_Missense_Mutation_p.F499L|SP140_uc010fxl.2_Missense_Mutation_p.F532L NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 559 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGGAACCCGCTTCACTCAGAG 0.378000 CCDC116 164592 broad.mit.edu 37 22 21991296 21991296 + Silent SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr22:21991296T>C uc002zve.2 + 5 1872 c.1779T>C c.(1777-1779)GAT>GAC p.D593D NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 Error:Variant_position_missing_in_Q8IYX3_after_alignment ovary(1)|skin(1) 2 Colorectal(54;0.105) AGATTGAAGATGAAGATGagg 0.448000 IGLL1 3543 broad.mit.edu 37 22 23917253 23917253 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr22:23917253C>T uc002zxd.2 - 2 341 c.223G>A c.(223-225)GGC>AGC p.G75S IGLL1_uc002zxe.2_Intron NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 75 immune response extracellular region|membrane 0 GTCCAGGAGCCGCGCTGGAGC 0.632000 MYO18B 84700 broad.mit.edu 37 22 26173746 26173746 + Nonsense_Mutation SNP C C A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr22:26173746C>A uc003abz.1 + 8 2316 c.2066C>A c.(2065-2067)TCA>TAA p.S689* MYO18B_uc003aca.1_Nonsense_Mutation_p.S570*|MYO18B_uc010guy.1_Nonsense_Mutation_p.S570*|MYO18B_uc010guz.1_Nonsense_Mutation_p.S570*|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Nonsense_Mutation_p.S202* NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 689 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGCAGGGTCTCAGGTATGGTG 0.542000 CAMK1 8536 broad.mit.edu 37 3 9804598 9804598 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:9804598C>T uc003bst.2 - 5 607 c.429G>A c.(427-429)AAG>AAA p.K143K OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 143 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TGAGCCCCACCTTGAGATCCC 0.488000 STT3B 201595 broad.mit.edu 37 3 31661247 31661247 + Silent SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:31661247C>T uc011axe.1 + 9 1252 c.1252C>T c.(1252-1254)CTA>TTA p.L418L STT3B_uc010hft.1_Intron|STT3B_uc003cer.1_Silent_p.L418L|STT3B_uc003cet.2_Silent_p.L169L NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN source of immunodominant MHC-associated 418 Helical; (Potential). protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding 0 CTTCTTTGATCTACATATTCT 0.348000 EXOG 9941 broad.mit.edu 37 3 38542927 38542927 + Missense_Mutation SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:38542927T>C uc003cih.2 + 3 491 c.395T>C c.(394-396)GTT>GCT p.V132A EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.V82A|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 132 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 GAAGATTATGTTGGAAGTGGG 0.443000 LARS2 23395 broad.mit.edu 37 3 45559430 45559430 + Nonsense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:45559430C>T uc003cop.1 + 18 2265 c.2080C>T c.(2080-2082)CGA>TGA p.R694* LARS2_uc010hit.1_Nonsense_Mutation_p.R651* NM_015340 NP_056155 Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 694 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity p.R694*(1) upper_aerodigestive_tract(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) ATGGCAACAACGACTGTGGAC 0.507000 EPHA3 2042 broad.mit.edu 37 3 89468434 89468434 + Missense_Mutation SNP A A C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:89468434A>C uc003dqy.2 + 11 2193 c.1968A>C c.(1966-1968)AAA>AAC p.K656N EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 656 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGACCCTGAAAGTTGGCTACA 0.438000 TSP Lung(6;0.00050) PAQR9 344838 broad.mit.edu 37 3 142681581 142681581 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:142681581C>T uc003evg.2 - 1 598 c.598G>A c.(598-600)GTG>ATG p.V200M PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 200 Extracellular (Potential). integral to membrane receptor activity 0 GTGCAGTCCACGTGCCAGCCC 0.647000 PLOD2 5352 broad.mit.edu 37 3 145789117 145789117 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:145789117G>A uc003evs.1 - 17 2385 c.1879C>T c.(1879-1881)CGG>TGG p.R627W PLOD2_uc003evq.1_Missense_Mutation_p.R308W|PLOD2_uc011bnm.1_Missense_Mutation_p.R593W|PLOD2_uc003evr.1_Missense_Mutation_p.R648W NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 627 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) ATGAACTCCCGGATAAAATGA 0.413000 DLG1 1739 broad.mit.edu 37 3 196778537 196778537 + Missense_Mutation SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr3:196778537T>C uc003fxo.3 - 25 2709 c.2519A>G c.(2518-2520)GAA>GGA p.E840G DLG1_uc011bub.1_Missense_Mutation_p.E736G|DLG1_uc011buc.1_Missense_Mutation_p.E724G|DLG1_uc011bud.1_Missense_Mutation_p.E523G|DLG1_uc003fxn.3_Missense_Mutation_p.E862G|DLG1_uc011bue.1_Missense_Mutation_p.E828G|DLG1_uc010ial.2_Missense_Mutation_p.E840G NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 840 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CTTATTCATTTCCCTACGAAA 0.323000 BOD1L 259282 broad.mit.edu 37 4 13603233 13603233 + Missense_Mutation SNP T T C rs151182576 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr4:13603233T>C uc003gmz.1 - 10 5408 c.5291A>G c.(5290-5292)GAT>GGT p.D1764G BOD1L_uc010idr.1_Missense_Mutation_p.D1101G NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1764 DNA binding ovary(5)|breast(1) 6 TGCATCATTATCTCCCAGGAC 0.527000 FAM13A 10144 broad.mit.edu 37 4 89772203 89772203 + Silent SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr4:89772203T>C uc003hse.1 - 7 1183 c.975A>G c.(973-975)GCA>GCG p.A325A FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Silent_p.A139A NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 325 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 TAGCACCCTCTGCTGAATTCA 0.453000 TARS 6897 broad.mit.edu 37 5 33455057 33455057 + Nonsense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr5:33455057G>A uc003jhy.2 + 5 756 c.461G>A c.(460-462)TGG>TAG p.W154* TARS_uc011cob.1_Nonsense_Mutation_p.W142*|TARS_uc010iup.1_Nonsense_Mutation_p.W95*|TARS_uc011coc.1_Nonsense_Mutation_p.W175*|TARS_uc003jhz.2_Nonsense_Mutation_p.W50*|TARS_uc011cod.1_Intron NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 154 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) CAGGTGTATTGGCACTCTAGT 0.383000 APC 324 broad.mit.edu 37 5 112162891 112162891 + Nonsense_Mutation SNP C C T rs137854580 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr5:112162891C>T uc010jby.2 + 12 1875 c.1495C>T c.(1495-1497)CGA>TGA p.R499* APC_uc011cvt.1_Nonsense_Mutation_p.R481*|APC_uc003kpz.3_Nonsense_Mutation_p.R499*|APC_uc003kpy.3_Nonsense_Mutation_p.R499*|APC_uc010jbz.2_Nonsense_Mutation_p.R216*|APC_uc010jca.2_Intron NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 499 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R499*(2)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TACACTAAGACGATATGCTGG 0.373000 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) PCDHB10 56126 broad.mit.edu 37 5 140572514 140572514 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr5:140572514C>T uc003lix.2 + 1 563 c.389C>T c.(388-390)GCG>GTG p.A130V NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 130 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGATCACGCGCCAGTATTT 0.423000 MDGA1 266727 broad.mit.edu 37 6 37626035 37626035 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr6:37626035C>T uc003onu.1 - 3 1547 c.368G>A c.(367-369)CGC>CAC p.R123H NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 123 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 CACGTCCACGCGGATGGACTT 0.682000 LRFN2 57497 broad.mit.edu 37 6 40399786 40399786 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr6:40399786G>A uc003oph.1 - 2 1532 c.1067C>T c.(1066-1068)GCC>GTC p.A356V NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 356 Extracellular (Potential).|Ig-like. cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAGGTGAAGGCACCACTGTC 0.602000 MYB 4602 broad.mit.edu 37 6 135517008 135517008 + Silent SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr6:135517008G>A uc003qfc.2 + 9 1270 c.1071G>A c.(1069-1071)CTG>CTA p.L357L MYB_uc003qfh.2_Silent_p.L357L|MYB_uc003qfi.2_Silent_p.L357L|MYB_uc010kgi.2_Silent_p.L357L|MYB_uc003qfq.2_Silent_p.L354L|MYB_uc010kgj.2_Silent_p.L322L|MYB_uc003qfo.2_Intron|MYB_uc003qfu.2_Silent_p.L354L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_Intron|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Silent_p.L169L|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Silent_p.L357L|MYB_uc003qge.1_RNA NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 357 Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CTCCATCTCTGCCAGCGGATC 0.567000 T NFIB adenoid cystic carcinoma GRM1 2911 broad.mit.edu 37 6 146480704 146480704 + Silent SNP C C T rs150520977 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr6:146480704C>T uc010khw.1 + 3 1391 c.921C>T c.(919-921)GGC>GGT p.G307G GRM1_uc010khu.1_Silent_p.G307G|GRM1_uc010khv.1_Silent_p.G307G|GRM1_uc003qll.2_Silent_p.G307G|GRM1_uc011edz.1_Silent_p.G307G|GRM1_uc011eea.1_Silent_p.G307G NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 307 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCGCCTTGGCGTCGTGGGCG 0.398000 HEATR2 54919 broad.mit.edu 37 7 813704 813704 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr7:813704G>A uc010krz.1 + 10 1971 c.1951G>A c.(1951-1953)GAG>AAG p.E651K HEATR2_uc003siz.2_Missense_Mutation_p.E519K|HEATR2_uc003sjb.2_Missense_Mutation_p.E31K|HEATR2_uc003sjc.2_Missense_Mutation_p.E76K NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 651 protein binding skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CAGCTACCTCGAGACGGTGAC 0.632000 POLM 27434 broad.mit.edu 37 7 44120346 44120346 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr7:44120346G>A uc003tjt.2 - 2 450 c.358C>T c.(358-360)CGG>TGG p.R120W POLM_uc003tju.2_Missense_Mutation_p.R120W|POLM_uc003tjx.2_Missense_Mutation_p.R120W|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_5'UTR|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.R120W|POLM_uc011kbu.1_Missense_Mutation_p.R120W|POLM_uc010kxy.2_Missense_Mutation_p.R120W NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 120 BRCT. DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 AGGCGGTGCCGGCACTCCACA 0.627000 DNA_polymerases_(catalytic_subunits) PKD1L1 168507 broad.mit.edu 37 7 47937792 47937792 + Splice_Site SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr7:47937792C>T uc003tny.1 - 14 2065 c.2065_splice c.e14-1 p.I689_splice NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ACCTCCATATCTAAGTATCAA 0.398000 AKAP9 10142 broad.mit.edu 37 7 91731945 91731945 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr7:91731945G>A uc003ulg.2 + 46 11360 c.11135G>A c.(11134-11136)CGA>CAA p.R3712Q AKAP9_uc003ulf.2_Missense_Mutation_p.R3704Q|AKAP9_uc003uli.2_Missense_Mutation_p.R3335Q|AKAP9_uc003ulj.2_Missense_Mutation_p.R1482Q|AKAP9_uc003ull.2_Missense_Mutation_p.R608Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3716 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAAAGTTTTCGAAAGGCTCTC 0.458000 T BRAF papillary thyroid TAS2R5 54429 broad.mit.edu 37 7 141491041 141491041 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr7:141491041C>T uc003vwr.1 + 1 1025 c.880C>T c.(880-882)CGG>TGG p.R294W NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN taste receptor T2R5 294 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste taste receptor activity 0 Melanoma(164;0.0171) AGTGTGTGCTCGGAGATGCTG 0.493000 ADAM28 10863 broad.mit.edu 37 8 24184071 24184071 + Missense_Mutation SNP A A C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr8:24184071A>C uc003xdy.2 + 10 978 c.895A>C c.(895-897)ACA>CCA p.T299P ADAM28_uc003xdx.2_Missense_Mutation_p.T299P|ADAM28_uc011kzz.1_Missense_Mutation_p.T66P|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_5'UTR NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 299 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TTGCAGAGCAACAGAACTTGC 0.358000 DPYS 1807 broad.mit.edu 37 8 105463594 105463594 + Silent SNP G G A rs141057778 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr8:105463594G>A uc003yly.3 - 2 432 c.303C>T c.(301-303)TTC>TTT p.F101F NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 101 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GAGGAATGGCGAAATCAATAA 0.468000 LRP12 29967 broad.mit.edu 37 8 105510027 105510027 + Missense_Mutation SNP C C G TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr8:105510027C>G uc003yma.2 - 5 848 c.753G>C c.(751-753)GAG>GAC p.E251D LRP12_uc003ymb.2_Missense_Mutation_p.E232D|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 251 Extracellular (Potential).|LDL-receptor class A 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CACAGTCTATCTCATCTCCTA 0.398000 CSMD3 114788 broad.mit.edu 37 8 113326718 113326718 + Missense_Mutation SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr8:113326718T>C uc003ynu.2 - 48 7648 c.7489A>G c.(7489-7491)ACC>GCC p.T2497A CSMD3_uc003yns.2_Missense_Mutation_p.T1699A|CSMD3_uc003ynt.2_Missense_Mutation_p.T2457A|CSMD3_uc011lhx.1_Missense_Mutation_p.T2393A|CSMD3_uc003ynw.1_Missense_Mutation_p.T208A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2497 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACAAACATGGTGATATTATAA 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) EPPK1 83481 broad.mit.edu 37 8 144940350 144940350 + Missense_Mutation SNP G G C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr8:144940350G>C uc003zaa.1 - 2 15095 c.15082C>G c.(15082-15084)CCC>GCC p.P5028A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5028 Plectin 64. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGTCCACGGGCACGCGGTGG 0.687000 RNF38 152006 broad.mit.edu 37 9 36339763 36339763 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr9:36339763G>A uc003zzh.2 - 12 1725 c.1534C>T c.(1534-1536)CGG>TGG p.R512W RNF38_uc003zzi.2_Missense_Mutation_p.R462W|RNF38_uc003zzj.2_Missense_Mutation_p.R429W|RNF38_uc003zzk.2_Missense_Mutation_p.R429W|RNF38_uc003zzl.2_Missense_Mutation_p.R436W|RNF38_uc003zzm.2_Missense_Mutation_p.R429W NM_022781 NP_073618 Q9H0F5 RNF38_HUMAN ring finger protein 38 isoform 1 512 zinc ion binding central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) TCTGAATCCCGATGCACTTCT 0.388000 ZNF462 58499 broad.mit.edu 37 9 109686821 109686821 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr9:109686821G>A uc004bcz.2 + 3 917 c.628G>A c.(628-630)GTA>ATA p.V210I ZNF462_uc010mto.2_Missense_Mutation_p.V58I|ZNF462_uc004bda.2_Missense_Mutation_p.V58I NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 210 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GGTTCCGCCCGTATCACTGCA 0.507000 TLR4 7099 broad.mit.edu 37 9 120475034 120475034 + Missense_Mutation SNP C C A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr9:120475034C>A uc004bjz.2 + 3 919 c.628C>A c.(628-630)CTG>ATG p.L210M TLR4_uc004bka.2_Missense_Mutation_p.L170M|TLR4_uc004bkb.2_Missense_Mutation_p.L10M NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 210 LRR 7.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTCTTTAGACCTGTCCCTGAA 0.368000 ACOT9 23597 broad.mit.edu 37 X 23724827 23724827 + Missense_Mutation SNP A A T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chrX:23724827A>T uc004dap.2 - 10 879 c.733T>A c.(733-735)TCC>ACC p.S245T ACOT9_uc004dan.2_5'UTR|ACOT9_uc004dao.2_Missense_Mutation_p.S254T|ACOT9_uc004daq.2_Missense_Mutation_p.S203T|ACOT9_uc004dar.2_Missense_Mutation_p.S185T|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.S185T NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 245 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 AACGACGTGGAGCTGAAGGCA 0.507000 MAGEB6 158809 broad.mit.edu 37 X 26212897 26212897 + Missense_Mutation SNP G G A TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chrX:26212897G>A uc004dbr.2 + 2 1083 c.934G>A c.(934-936)GGT>AGT p.G312S MAGEB6_uc010ngc.1_Missense_Mutation_p.G92S NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 312 MAGE. ovary(3) 3 GGAGTTCCTGGGTCTGTTGGG 0.498000 FAM47A 158724 broad.mit.edu 37 X 34148843 34148843 + Missense_Mutation SNP C C T TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chrX:34148843C>T uc004ddg.2 - 1 1586 c.1553G>A c.(1552-1554)CGC>CAC p.R518H NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 518 ovary(4)|central_nervous_system(1) 5 AGGCTCCGAGCGGAGACTGGA 0.652000 TMEM47 83604 broad.mit.edu 37 X 34648573 34648573 + Missense_Mutation SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chrX:34648573T>C uc004ddh.2 - 3 662 c.403A>G c.(403-405)ATC>GTC p.I135V TMEM47_uc010ngs.2_RNA NM_031442 NP_113630 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 135 Helical; (Potential). integral to membrane lung(1) 1 ATGAACTTGATTGGGTAAAGG 0.368000 PFKFB1 5207 broad.mit.edu 37 X 54959866 54959866 + Silent SNP T T C TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chrX:54959866T>C uc004dty.1 - 14 1457 c.1386A>G c.(1384-1386)GAA>GAG p.E462E PFKFB1_uc010nkd.1_Silent_p.E270E|PFKFB1_uc011mol.1_Silent_p.E397E NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 462 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 TATCCAGGGCTTCCTCAGGTT 0.547000 SLC6A8 6535 broad.mit.edu 37 X 152960203 152960203 + Silent SNP C C T rs140601882 TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chrX:152960203C>T uc004fib.3 + 12 1904 c.1626C>T c.(1624-1626)TAC>TAT p.Y542Y SLC6A8_uc004fic.3_Silent_p.Y532Y|SLC6A8_uc011myx.1_Silent_p.Y427Y|SLC6A8_uc010nuj.2_RNA NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 542 Extracellular (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TTGTGTACTACGAGCCGCTGG 0.483000 HECW1 23072 broad.mit.edu 37 7 43540325 43540325 + Frame_Shift_Del DEL G G - TCGA-F1-6875-01A-11D-2053-08 TCGA-F1-6875-11A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea1cac20-88c1-4257-9cdb-d2890eb2e123 f3a4fd8d-1f1c-48ab-854f-6717fd62c46c g.chr7:43540324_43540324AG>A uc003tid.1 + 19 4069 c.3464_3464AG>A c.(3463-3465)gagfs p.E1155fs HECW1_uc011kbi.1_Frame_Shift_Del_p.E1121fs NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 1155 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ATTCGGACTGAGGGTAATCAC 0.443