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 NADK 65220 broad.mit.edu 37 1 1696699 1696699 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:1696699G>C uc009vkw.2 - 2 268 c.147C>G c.(145-147)GCC>GCG p.A49A NADK_uc001aic.2_Silent_p.A49A|NADK_uc001aid.3_Silent_p.A49A|NADK_uc001aie.2_Silent_p.A49A|NADK_uc009vkx.1_5'UTR NM_023018 NP_075394 O95544 NADK_HUMAN NAD kinase 49 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GGGCGGGCGAGGCAGACAGGC 0.567 C1orf127 148345 broad.mit.edu 37 1 11008300 11008300 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:11008300C>G uc010oao.1 - 8 1450 c.1445G>C c.(1444-1446)GGT>GCT p.G482A C1orf127_uc001arr.1_Missense_Mutation_p.G464A|C1orf127_uc001ars.1_Missense_Mutation_p.G456A NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 482 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTGGGGAGACCAGGCCCTGT 0.642 FBXO44 93611 broad.mit.edu 37 1 11721234 11721234 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:11721234G>A uc001asm.2 + 6 798 c.672G>A c.(670-672)TGG>TGA p.W224* FBXO44_uc001ask.2_Missense_Mutation_p.V183I|FBXO44_uc001asl.2_Nonsense_Mutation_p.W224*|FBXO44_uc001asn.2_Missense_Mutation_p.V183I|FBXO44_uc010oar.1_Missense_Mutation_p.V215I|FBXO44_uc010oas.1_Nonsense_Mutation_p.W84*|FBXO6_uc001aso.2_5'Flank NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 224 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GCTACATCTGGTTTCAGCACG 0.627 NECAP2 55707 broad.mit.edu 37 1 16775642 16775642 + Silent SNP C C A rs143289277 byFrequency TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:16775642C>A uc001ayo.2 + 5 525 c.435C>A c.(433-435)GGC>GGA p.G145G NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.G119G|NECAP2_uc001ayq.2_Silent_p.G145G NM_018090 NP_060560 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 isoform 1 145 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CAGACCAAGGCCCTAAACTGG 0.532 PLA2G2E 30814 broad.mit.edu 37 1 20249208 20249208 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:20249208C>A uc001bct.1 - 2 139 c.81G>T c.(79-81)ATG>ATT p.M27I NM_014589 NP_055404 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE precursor 27 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCTTCTCGATCATCACCCCAA 0.527 PINK1 65018 broad.mit.edu 37 1 20964478 20964478 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:20964478A>G uc001bdm.2 + 2 625 c.531A>G c.(529-531)ACA>ACG p.T177T NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 177 Protein kinase.|Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATGCCTACATTGCCCCAGA 0.602 LAPTM5 7805 broad.mit.edu 37 1 31214496 31214496 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:31214496G>A uc001bsc.2 - 3 340 c.249C>T c.(247-249)GGC>GGT p.G83G NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 83 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CCTTGACTACGCCGATCAGTA 0.607 CSMD2 114784 broad.mit.edu 37 1 34238273 34238273 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:34238273G>A uc001bxn.1 - 13 1652 c.1623C>T c.(1621-1623)GAC>GAT p.D541D CSMD2_uc001bxm.1_Silent_p.D581D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 541 Sushi 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTTGAGTGTGTCACCGTGGT 0.557 CSF3R 1441 broad.mit.edu 37 1 36938265 36938265 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:36938265C>T uc001caw.1 - 7 874 c.696G>A c.(694-696)CTG>CTA p.L232L CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Silent_p.L232L|CSF3R_uc001cax.1_Silent_p.L232L|CSF3R_uc001cay.1_Silent_p.L232L NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 232 Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CCATGGTCCGCAGCATGGGGG 0.627 EPHA10 284656 broad.mit.edu 37 1 38197083 38197083 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:38197083C>T uc009vvi.2 - 7 1749 c.1663G>A c.(1663-1665)GCT>ACT p.A555T EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 555 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTACTTACCCTCCCCCAGG 0.577 COL9A2 1298 broad.mit.edu 37 1 40768858 40768858 + Splice_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:40768858C>G uc001cfh.1 - 29 1619 c.1549_splice c.e29-1 p.G517_splice COL9A2_uc001cfi.1_Splice_Site_p.G336_splice NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CATCCCGGCCCTGAAAGCAGA 0.627 COL9A2 1298 broad.mit.edu 37 1 40770188 40770188 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:40770188T>C uc001cfh.1 - 23 1245 c.1175A>G c.(1174-1176)GAG>GGG p.E392G COL9A2_uc001cfi.1_Missense_Mutation_p.E211G NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 392 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) TGGACCCCTCTCGCCTTGGTC 0.617 C1orf87 127795 broad.mit.edu 37 1 60456444 60456444 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:60456444C>T uc001czs.1 - 12 1634 c.1542G>A c.(1540-1542)CTG>CTA p.L514L C1orf87_uc001czr.1_Silent_p.L106L NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 514 calcium ion binding ovary(1)|breast(1) 2 GGCTCAGGGACAGGTTGTAAA 0.483 DNAJC6 9829 broad.mit.edu 37 1 65858259 65858259 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:65858259C>A uc001dcd.1 + 12 1607 c.1443C>A c.(1441-1443)CCC>CCA p.P481P DNAJC6_uc001dcc.1_Silent_p.P512P|DNAJC6_uc010opc.1_Silent_p.P468P|DNAJC6_uc001dce.1_Silent_p.P538P NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 481 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 TCAAGAAGCCCAGCAAAAAGC 0.532 AKNAD1 254268 broad.mit.edu 37 1 109395133 109395133 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:109395133C>G uc001dwa.2 - 2 423 c.154G>C c.(154-156)GAT>CAT p.D52H AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 52 ovary(3) 3 TGAGGGTCATCTGCTATGAAA 0.383 SYT6 148281 broad.mit.edu 37 1 114641809 114641809 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:114641809A>C uc001eev.2 - 5 1266 c.1016T>G c.(1015-1017)CTC>CGC p.L339R SYT6_uc001eeu.2_5'UTR NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 424 Cytoplasmic (Potential).|C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GACAGGATTGAGAGTGTTTTT 0.463 PRUNE 58497 broad.mit.edu 37 1 151006687 151006687 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:151006687A>C uc001ewh.1 + 8 1475 c.1339A>C c.(1339-1341)ACA>CCA p.T447P PRUNE_uc001ewi.1_Missense_Mutation_p.T265P|PRUNE_uc010pco.1_Missense_Mutation_p.T215P|PRUNE_uc001ewj.1_Missense_Mutation_p.T162P|PRUNE_uc001ewk.1_Missense_Mutation_p.T212P|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 447 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACAGTCTACCACAGCCTCCCT 0.522 CDC42SE1 56882 broad.mit.edu 37 1 151026763 151026763 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:151026763C>A uc001ewo.2 - 5 770 c.200G>T c.(199-201)GGA>GTA p.G67V CDC42SE1_uc001ewp.2_Missense_Mutation_p.G67V NM_001038707 NP_001033796 Q9NRR8 C42S1_HUMAN CDC42 small effector 1 67 phagocytosis|regulation of cell shape|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase inhibitor activity 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATCTCGGTTTCCCTTGGATCT 0.448 RFX5 5993 broad.mit.edu 37 1 151314729 151314729 + Nonsense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:151314729A>T uc001exv.1 - 11 1998 c.1784T>A c.(1783-1785)TTA>TAA p.L595* RFX5_uc001exw.1_Nonsense_Mutation_p.L595*|RFX5_uc009wmr.1_Nonsense_Mutation_p.L595*|RFX5_uc010pcx.1_Nonsense_Mutation_p.L555* NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 595 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATGCTCCTTTAAGTCTTTATT 0.473 SNX27 81609 broad.mit.edu 37 1 151634671 151634671 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:151634671G>C uc001eyn.1 + 5 847 c.831G>C c.(829-831)CTG>CTC p.L277L SNX27_uc001eyo.2_Silent_p.L184L|SNX27_uc001eyp.2_Silent_p.L91L NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 277 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) ACGTAGAGCTGAGAGTAGCAT 0.403 TCHHL1 126637 broad.mit.edu 37 1 152059360 152059360 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:152059360T>C uc001ezo.1 - 3 863 c.798A>G c.(796-798)AAA>AAG p.K266K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 266 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTGTTGCTTCTTTTGGTGGTG 0.428 TCHH 7062 broad.mit.edu 37 1 152086500 152086500 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:152086500G>A uc001ezp.2 - 1 57 c.57C>T c.(55-57)GTC>GTT p.V19V TCHH_uc009wne.1_Silent_p.V19V NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 19 S-100-like. 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) AATCATGAGAGACATACTGAT 0.368 KPRP 448834 broad.mit.edu 37 1 152733487 152733487 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:152733487C>T uc001fal.1 + 2 1481 c.1423C>T c.(1423-1425)CGA>TGA p.R475* NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 475 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTTGTCCACGACCAGAGCC 0.672 RUSC1 23623 broad.mit.edu 37 1 155297948 155297948 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:155297948T>C uc001fkj.2 + 9 2651 c.2422T>C c.(2422-2424)TCT>CCT p.S808P RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S702P|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.S339P|RUSC1_uc001fkl.2_Missense_Mutation_p.S398P|RUSC1_uc001fkp.2_Missense_Mutation_p.S339P|RUSC1_uc001fkq.2_Missense_Mutation_p.S233P|RUSC1_uc010pgb.1_Missense_Mutation_p.S306P|RUSC1_uc009wqp.1_Missense_Mutation_p.S333P|RUSC1_uc001fkn.2_Missense_Mutation_p.S117P|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.S339P|RUSC1_uc001fks.2_Intron NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 808 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TAGGAGACCATCTAGCTGGCT 0.587 OR10K2 391107 broad.mit.edu 37 1 158390537 158390537 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:158390537G>T uc010pii.1 - 1 120 c.120C>A c.(118-120)GGC>GGA p.G40G NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TTGCATTGGTGCCCAGAGTGA 0.517 OR6K2 81448 broad.mit.edu 37 1 158669861 158669861 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:158669861G>A uc001fsu.1 - 1 582 c.582C>T c.(580-582)ATC>ATT p.I194I NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GAATCATGACGATGGCTCGTG 0.468 MNDA 4332 broad.mit.edu 37 1 158813857 158813857 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:158813857A>T uc001fsz.1 + 4 715 c.515A>T c.(514-516)CAT>CTT p.H172L NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 172 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) GCTGTGGATCATCCCCCACTA 0.498 LY9 4063 broad.mit.edu 37 1 160786398 160786398 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:160786398C>G uc001fwu.2 + 5 1137 c.1087C>G c.(1087-1089)CCC>GCC p.P363A LY9_uc001fwv.2_Missense_Mutation_p.P363A|LY9_uc001fww.2_Intron|LY9_uc001fwx.2_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Missense_Mutation_p.P15A NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 363 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTGAGGAAGCCCAAAATCAC 0.542 RGS4 5999 broad.mit.edu 37 1 163044202 163044202 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:163044202T>C uc009wuy.2 + 5 981 c.470T>C c.(469-471)TTC>TCC p.F157S RGS4_uc001gcl.3_Missense_Mutation_p.F254S|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.F139S NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 157 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 AAGAAGATTTTCAACCTGATG 0.507 POGK 57645 broad.mit.edu 37 1 166818400 166818400 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:166818400G>T uc001gdt.1 + 5 704 c.584G>T c.(583-585)GGC>GTC p.G195V POGK_uc010ple.1_Missense_Mutation_p.G110V|POGK_uc010plf.1_Missense_Mutation_p.G77V NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 195 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 TTCAGCCGGGGCATGCGCCGC 0.557 SELP 6403 broad.mit.edu 37 1 169559386 169559386 + Nonstop_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:169559386T>G uc001ggi.3 - 16 2558 c.2493A>C c.(2491-2493)TAA>TAC p.*831Y SELP_uc001ggh.2_Nonstop_Mutation_p.*626Y|SELP_uc009wvr.2_Nonstop_Mutation_p.*830Y NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 831 platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGATCTTACCTTAAGGACTCG 0.333 SELP 6403 broad.mit.edu 37 1 169559420 169559420 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:169559420A>C uc001ggi.3 - 16 2524 c.2459T>G c.(2458-2460)GTT>GGT p.V820G SELP_uc001ggh.2_Missense_Mutation_p.V615G|SELP_uc009wvr.2_Missense_Mutation_p.V819G NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 820 Endocytosis signal (Probable).|Cytoplasmic (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTTTGTAAAAACTCCATATGT 0.373 BAT2L2 23215 broad.mit.edu 37 1 171484978 171484978 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:171484978G>A uc010pmg.1 + 5 766 c.500G>A c.(499-501)GGA>GAA p.G167E BAT2L2_uc001ghq.1_Missense_Mutation_p.G164E|BAT2L2_uc001ghr.1_Missense_Mutation_p.G169E NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 167 protein C-terminus binding 0 TATGGACCTGGACCCAGTTTA 0.403 LGR6 59352 broad.mit.edu 37 1 202287851 202287851 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:202287851C>A uc001gxu.2 + 18 2420 c.2420C>A c.(2419-2421)GCC>GAC p.A807D LGR6_uc001gxv.2_Missense_Mutation_p.A755D|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.A668D NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 807 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 ACGCCCGAGGCCGTCAAGTCT 0.647 DSTYK 25778 broad.mit.edu 37 1 205156872 205156872 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:205156872A>C uc001hbw.2 - 2 392 c.328T>G c.(328-330)TGC>GGC p.C110G DSTYK_uc001hbx.2_Missense_Mutation_p.C110G NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 110 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 CAAGGGAGGCAGTCCACAATC 0.468 DTL 51514 broad.mit.edu 37 1 212238293 212238293 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:212238293A>G uc009xdc.2 + 7 875 c.561A>G c.(559-561)GGA>GGG p.G187G DTL_uc010ptb.1_Silent_p.G145G|DTL_uc001hiz.3_5'UTR NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 187 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) AAATCAGTGGAGCTCACAATA 0.368 CABC1 56997 broad.mit.edu 37 1 227174341 227174341 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:227174341C>G uc001hqm.1 + 20 5266 c.1847C>G c.(1846-1848)TCC>TGC p.S616C CABC1_uc001hqn.1_Missense_Mutation_p.S616C|CABC1_uc009xeq.1_Missense_Mutation_p.S564C|CABC1_uc010pvq.1_Missense_Mutation_p.S337C|CABC1_uc010pvr.1_Missense_Mutation_p.S290C|CABC1_uc001hqo.1_Missense_Mutation_p.S337C|CABC1_uc009xer.1_Missense_Mutation_p.S132C NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 616 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) ATGGGGGGCTCCTTCCTCATC 0.612 PCNXL2 80003 broad.mit.edu 37 1 233136182 233136182 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:233136182G>T uc001hvl.2 - 30 5432 c.5197C>A c.(5197-5199)CCG>ACG p.P1733T PCNXL2_uc001hvk.1_Missense_Mutation_p.P385T|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1733 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CGCCAGGCCGGGTCGCCCTCG 0.617 MTR 4548 broad.mit.edu 37 1 237026804 237026804 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:237026804C>T uc001hyi.3 + 22 2778 c.2355C>T c.(2353-2355)CAC>CAT p.H785H MTR_uc010pxw.1_Silent_p.H378H|MTR_uc010pxx.1_Silent_p.H734H|MTR_uc010pxy.1_Silent_p.H639H NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 785 B12-binding. Cobalt (cobalamin axial ligand) (By similarity). nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCGACGTGCACGACATAGGCA 0.488 C1orf100 200159 broad.mit.edu 37 1 244541857 244541857 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:244541857C>A uc001iah.2 + 4 354 c.241C>A c.(241-243)CTT>ATT p.L81I C1orf100_uc001iai.2_Intron NM_001012970 NP_001012988 Q5SVJ3 CA100_HUMAN hypothetical protein LOC200159 81 0 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) ATATATTTGTCTTCGAAGACA 0.403 CNST 163882 broad.mit.edu 37 1 246754949 246754949 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:246754949G>A uc001ibp.2 + 2 463 c.85G>A c.(85-87)GTG>ATG p.V29M CNST_uc001ibo.3_Missense_Mutation_p.V29M NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 29 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GGAAAGGAGTGTGACCTGTCT 0.488 NLRP3 114548 broad.mit.edu 37 1 247599290 247599290 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:247599290C>A uc001icr.2 + 8 2655 c.2517C>A c.(2515-2517)CTC>CTA p.L839L NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Silent_p.L839L|NLRP3_uc001icw.2_Silent_p.L782L|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.L817L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 839 LRR 4. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCTGCTGCCTCACATCAGCAT 0.542 NEBL 10529 broad.mit.edu 37 10 21101759 21101759 + Silent SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:21101759A>C uc001iqi.2 - 24 2854 c.2457T>G c.(2455-2457)GCT>GCG p.A819A NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.A156A NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 819 Nebulin 23. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CTTTATAGGCAGCATCGCTGA 0.527 YME1L1 10730 broad.mit.edu 37 10 27412510 27412510 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:27412510C>G uc001iti.2 - 11 1421 c.1239G>C c.(1237-1239)GTG>GTC p.V413V YME1L1_uc001itj.2_Silent_p.V356V|YME1L1_uc010qdl.1_Silent_p.V323V|YME1L1_uc009xkv.2_Intron NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 413 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 CTCCCACACCCACAAACATCT 0.443 GPRIN2 9721 broad.mit.edu 37 10 46999887 46999887 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:46999887G>T uc001jec.2 + 3 1142 c.1007G>T c.(1006-1008)GGT>GTT p.G336V GPRIN2_uc010qfq.1_Missense_Mutation_p.G99V NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 336 0 CAGGATGCTGGTGTGCAGGCG 0.647 OGDHL 55753 broad.mit.edu 37 10 50948874 50948874 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:50948874G>T uc001jie.2 - 16 2164 c.2022C>A c.(2020-2022)CAC>CAA p.H674Q OGDHL_uc009xog.2_Missense_Mutation_p.H701Q|OGDHL_uc010qgt.1_Missense_Mutation_p.H617Q|OGDHL_uc010qgu.1_Missense_Mutation_p.H465Q NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 674 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGAGAACATGGTGCCGGTGAC 0.637 NDUFB8 4714 broad.mit.edu 37 10 102289218 102289218 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:102289218G>T uc001kri.1 - 2 159 c.131C>A c.(130-132)ACC>AAC p.T44N SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_5'UTR|SEC31B_uc010qpr.1_RNA NM_005004 NP_004995 O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 44 T -> I (in Ref. 4 and 5). mitochondrial electron transport, NADH to ubiquinone|transport endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) NADH(DB00157) TTCTTCTGGGGTCCTAGGATA 0.582 PPRC1 23082 broad.mit.edu 37 10 103899167 103899167 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:103899167G>C uc001kum.2 + 5 941 c.902G>C c.(901-903)AGC>ACC p.S301T PPRC1_uc001kun.2_Missense_Mutation_p.S181T|PPRC1_uc010qqj.1_Missense_Mutation_p.S301T|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGTGATGAGAGCATCTCCTCC 0.587 SORCS3 22986 broad.mit.edu 37 10 107005390 107005390 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:107005390C>A uc001kyi.1 + 21 3186 c.2959C>A c.(2959-2961)CTC>ATC p.L987I SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 987 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGGAATGCCCTCATCCAGGA 0.498 GPAM 57678 broad.mit.edu 37 10 113933596 113933596 + Nonsense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:113933596C>A uc009xxy.1 - 7 619 c.421G>T c.(421-423)GAG>TAG p.E141* GPAM_uc001kzp.2_Nonsense_Mutation_p.E141*|GPAM_uc001kzq.1_Nonsense_Mutation_p.E141* NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 141 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) GCAATTGCCTCTTGTACTCTG 0.363 DOCK1 1793 broad.mit.edu 37 10 129237406 129237406 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:129237406A>C uc001ljt.2 + 49 5177 c.5113A>C c.(5113-5115)AAA>CAA p.K1705Q DOCK1_uc010qun.1_Missense_Mutation_p.K1726Q|DOCK1_uc009yaq.2_Missense_Mutation_p.K700Q NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1705 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) aaggaaCAGCAAACATCAAGA 0.388 OR51G2 81282 broad.mit.edu 37 11 4936194 4936194 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:4936194C>T uc001lzr.1 - 1 700 c.700G>A c.(700-702)GCC>ACC p.A234T NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCCTGGAGGCGATGGACAGC 0.522 EIF3F 8665 broad.mit.edu 37 11 8009235 8009235 + Silent SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:8009235T>G uc001mfw.2 + 1 369 c.336T>G c.(334-336)GGT>GGG p.G112G EIF3F_uc010rbj.1_5'UTR NM_003754 NP_003745 O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, 112 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(1) 1 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCAACGAGGGTGCTGCCCGAG 0.557 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C11orf84 144097 broad.mit.edu 37 11 63585493 63585493 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:63585493C>G uc001nxt.2 + 2 580 c.344C>G c.(343-345)CCT>CGT p.P115R NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 115 0 GAGCAGCACCCTCACACCTTG 0.642 FAT3 120114 broad.mit.edu 37 11 92085453 92085453 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:92085453A>T uc001pdj.3 + 1 192 c.175A>T c.(175-177)AGG>TGG p.R59W NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 59 Cadherin 1.|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) CTCAGCAGCAAGGACCTACGT 0.493 TCGA Ovarian(4;0.039) USP28 57646 broad.mit.edu 37 11 113704991 113704991 + Nonsense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:113704991C>A uc001poh.2 - 6 634 c.601G>T c.(601-603)GAA>TAA p.E201* USP28_uc010rwy.1_Nonsense_Mutation_p.E76*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.E201*|USP28_uc010rwz.1_Nonsense_Mutation_p.E201* NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 201 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CGACAATTTTCAAGTACATTT 0.368 DSCAML1 57453 broad.mit.edu 37 11 117335803 117335803 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:117335803C>A uc001prh.1 - 17 3302 c.3300G>T c.(3298-3300)GTG>GTT p.V1100V NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1040 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCTTCATCTCCACGATGCTGT 0.602 TRAPPC4 51399 broad.mit.edu 37 11 118889967 118889967 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:118889967G>T uc010ryo.1 + 2 555 c.290G>T c.(289-291)CGA>CTA p.R97L RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.R97L|TRAPPC4_uc010ryp.1_Intron|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.R97L NM_016146 NP_057230 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 97 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GTGTCCATTCGATTTGGCCGG 0.557 C11orf63 79864 broad.mit.edu 37 11 122775027 122775027 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:122775027C>T uc001pym.2 + 3 1036 c.739C>T c.(739-741)CGG>TGG p.R247W C11orf63_uc001pyl.1_Missense_Mutation_p.R247W NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 247 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ACGTGGCCCTCGGCGAAGGAA 0.478 FAM118B 79607 broad.mit.edu 37 11 126110710 126110710 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:126110710C>G uc001qdf.2 + 4 293 c.110C>G c.(109-111)ACT>AGT p.T37S FAM118B_uc009zca.2_Missense_Mutation_p.T41S|FAM118B_uc001qdg.2_Missense_Mutation_p.T37S NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 37 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) AGCTTAAAAACTAAGAAGCCT 0.443 GLB1L2 89944 broad.mit.edu 37 11 134240919 134240919 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:134240919G>A uc001qhp.2 + 13 1421 c.1233G>A c.(1231-1233)AAG>AAA p.K411K GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 411 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) AGTCTGAAAAGCCCATCAACA 0.562 MFAP5 8076 broad.mit.edu 37 12 8808404 8808404 + Silent SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:8808404T>G uc001qut.1 - 4 330 c.117A>C c.(115-117)CCA>CCC p.P39P MFAP5_uc001qus.2_Silent_p.P39P|MFAP5_uc009zge.1_Silent_p.P39P NM_003480 NP_003471 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 precursor 39 microfibril extracellular matrix structural constituent breast(1) 1 Lung SC(5;0.184) TGAATGTTTCTGGAGTCGCTT 0.343 CACNB3 784 broad.mit.edu 37 12 49221573 49221573 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:49221573G>C uc001rsl.1 + 13 1547 c.1346G>C c.(1345-1347)AGT>ACT p.S449T CACNB3_uc010sly.1_Missense_Mutation_p.S436T|CACNB3_uc010slz.1_Missense_Mutation_p.S448T|CACNB3_uc001rsk.1_Missense_Mutation_p.S296T NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 449 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) GGGCTGCCTAGTGCTAACGGG 0.622 ACCN2 41 broad.mit.edu 37 12 50471146 50471146 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:50471146G>A uc001rvw.2 + 4 938 c.709G>A c.(709-711)GAC>AAC p.D237N ACCN2_uc001rvv.2_Missense_Mutation_p.D237N|ACCN2_uc009zln.2_Missense_Mutation_p.D28N|ACCN2_uc009zlo.2_Missense_Mutation_p.D237N NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 237 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) GGGGGAGACTGGTACGTCACC 0.657 LASS5 91012 broad.mit.edu 37 12 50560935 50560935 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:50560935G>C uc001rwd.3 - 1 163 c.146C>G c.(145-147)TCG>TGG p.S49W LASS5_uc001rwe.3_5'UTR|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN LAG1 homolog, ceramide synthase 5 49 Helical; (Potential). ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 CGGGAACACCGAGAGGATGTG 0.607 SCN8A 6334 broad.mit.edu 37 12 52200766 52200766 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:52200766G>A uc001ryw.2 + 27 5674 c.5496G>A c.(5494-5496)ATG>ATA p.M1832I NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1832 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCATCGCTATGGATCTGCCAA 0.552 HOXC9 3225 broad.mit.edu 37 12 54394041 54394041 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:54394041C>T uc001sep.2 + 2 167 c.69C>T c.(67-69)CTC>CTT p.L23L HOXC9_uc001seq.2_Silent_p.L23L NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 23 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 ATGAAGACCTCCTAGCGTCCA 0.572 SYT1 6857 broad.mit.edu 37 12 79693214 79693214 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:79693214T>C uc001sys.2 + 9 1364 c.693T>C c.(691-693)GAT>GAC p.D231D SYT1_uc001syt.2_Silent_p.D231D|SYT1_uc001syu.2_Silent_p.D228D|SYT1_uc001syv.2_Silent_p.D231D NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 231 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1. Calcium 2 (By similarity).|Calcium 1 (By similarity). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 CTGTATATGATTTTGATCGTT 0.383 PPP1R12A 4659 broad.mit.edu 37 12 80214680 80214680 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:80214680T>G uc001syz.2 - 8 1255 c.988A>C c.(988-990)AAT>CAT p.N330H PPP1R12A_uc010suc.1_Missense_Mutation_p.N243H|PPP1R12A_uc001sza.2_Missense_Mutation_p.N330H|PPP1R12A_uc010sud.1_Missense_Mutation_p.N330H|PPP1R12A_uc001szb.2_Missense_Mutation_p.N330H|PPP1R12A_uc001szc.2_Missense_Mutation_p.N330H NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 330 contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 CGGGATGCATTTTTCTCTGGT 0.353 SSH1 54434 broad.mit.edu 37 12 109182012 109182012 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:109182012T>A uc001tnm.2 - 15 2989 c.2902A>T c.(2902-2904)ACC>TCC p.T968S SSH1_uc001tnl.2_Missense_Mutation_p.T656S NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 968 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 GAAGAGACGGTGAGGCCCGCC 0.632 TCHP 84260 broad.mit.edu 37 12 110341905 110341905 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:110341905G>A uc001tpn.2 + 3 505 c.352G>A c.(352-354)GAG>AAG p.E118K TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.E118K NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 118 Glu-rich.|Potential.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 AAGAATCCGGGAGCAGCACGG 0.572 SACS 26278 broad.mit.edu 37 13 23912295 23912295 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr13:23912295C>T uc001uon.2 - 10 6309 c.5720G>A c.(5719-5721)CGA>CAA p.R1907Q SACS_uc001uoo.2_Missense_Mutation_p.R1760Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1907 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) GGTATTCCATCGTCCTTTTGT 0.403 POSTN 10631 broad.mit.edu 37 13 38154009 38154009 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr13:38154009T>A uc001uwo.3 - 12 1767 c.1649A>T c.(1648-1650)GAA>GTA p.E550V POSTN_uc010tet.1_Missense_Mutation_p.E78V|POSTN_uc001uwp.3_Missense_Mutation_p.E550V|POSTN_uc001uwr.2_Missense_Mutation_p.E550V|POSTN_uc001uwq.2_Missense_Mutation_p.E550V|POSTN_uc010teu.1_Missense_Mutation_p.E550V|POSTN_uc010tev.1_Missense_Mutation_p.E550V|POSTN_uc010tew.1_Missense_Mutation_p.E550V|POSTN_uc010tex.1_Missense_Mutation_p.E465V NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 550 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TATCAGAATTTCTTTTTCTTC 0.403 HTR2A 3356 broad.mit.edu 37 13 47409208 47409208 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr13:47409208A>G uc001vbq.2 - 3 1314 c.1180T>C c.(1180-1182)TAT>CAT p.Y394H HTR2A_uc001vbr.2_Missense_Mutation_p.Y294H|HTR2A_uc010acr.2_Missense_Mutation_p.Y394H NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 394 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CACTGAATATACCGTGAAAAG 0.418 SLITRK1 114798 broad.mit.edu 37 13 84454661 84454661 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr13:84454661C>A uc001vlk.2 - 1 1868 c.982G>T c.(982-984)GGT>TGT p.G328C NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 328 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTGGAGCTACCCGTCGCTATC 0.547 TEP1 7011 broad.mit.edu 37 14 20845494 20845494 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:20845494G>T uc001vxe.2 - 41 6073 c.6033C>A c.(6031-6033)TTC>TTA p.F2011L TEP1_uc010ahk.2_Missense_Mutation_p.F1354L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.F1903L|TEP1_uc010tlh.1_Missense_Mutation_p.F349L NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2011 WD 10. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGGCTTCTGGAATCTGGACA 0.527 OR5AU1 390445 broad.mit.edu 37 14 21623524 21623524 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:21623524C>T uc010tlp.1 - 1 661 c.661G>A c.(661-663)GGT>AGT p.G221S NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 221 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) ACATGAGCACCGCAGAATTTC 0.498 FOXG1 2290 broad.mit.edu 37 14 29237814 29237814 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:29237814G>A uc001wqe.2 + 1 1528 c.1329G>A c.(1327-1329)ACG>ACA p.T443T NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 443 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) CCTCCTCCACGTCGCCGCAGG 0.607 HEATR5A 25938 broad.mit.edu 37 14 31819924 31819924 + Splice_Site SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:31819924C>A uc001wrf.3 - 11 1610 c.1533_splice c.e11-1 p.R511_splice HEATR5A_uc010ami.2_Splice_Site_p.R409_splice|HEATR5A_uc001wrg.1_Splice_Site_p.R393_splice|HEATR5A_uc010tpk.1_Splice_Site_p.R804_splice NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TATAAGAAGCCTACAATCAGA 0.259 MIPOL1 145282 broad.mit.edu 37 14 37754628 37754628 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:37754628A>G uc001wuc.2 + 8 1102 c.599A>G c.(598-600)AAG>AGG p.K200R MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.K169R|MIPOL1_uc001wud.2_Missense_Mutation_p.K200R|MIPOL1_uc010ams.2_Missense_Mutation_p.K200R|MIPOL1_uc001wue.2_Missense_Mutation_p.K169R|MIPOL1_uc010amt.2_Missense_Mutation_p.K19R NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 200 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) GCACGAGCCAAGCATATGGAA 0.373 C14orf166 51637 broad.mit.edu 37 14 52471144 52471144 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:52471144A>G uc010aod.2 + 8 775 c.645A>G c.(643-645)CTA>CTG p.L215L C14orf166_uc001wzm.3_Silent_p.L81L|C14orf166_uc001wzn.3_Silent_p.L77L NM_016039 NP_057123 Q9Y224 CN166_HUMAN homeobox prox 1 215 microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex identical protein binding 0 Breast(41;0.0639)|all_epithelial(31;0.101) TCAGAGAGCTACAGACAAAAA 0.413 KIAA0586 9786 broad.mit.edu 37 14 58953857 58953857 + Missense_Mutation SNP C C T rs77810875 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:58953857C>T uc001xdv.3 + 21 3322 c.3049C>T c.(3049-3051)CCT>TCT p.P1017S KIAA0586_uc010trr.1_Missense_Mutation_p.P1134S|KIAA0586_uc001xdt.3_Missense_Mutation_p.P1049S|KIAA0586_uc001xdu.3_Missense_Mutation_p.P1078S|KIAA0586_uc010trs.1_Missense_Mutation_p.P1008S|KIAA0586_uc010trt.1_Missense_Mutation_p.P953S|KIAA0586_uc010tru.1_Missense_Mutation_p.P953S NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 1017 ovary(1) 1 TATGGCTTTTCCTGTGAAAGA 0.368 ZBTB1 22890 broad.mit.edu 37 14 64990077 64990077 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:64990077C>T uc001xhh.3 + 4 2286 c.1855C>T c.(1855-1857)CGT>TGT p.R619C ZBTB1_uc010aqg.2_Missense_Mutation_p.R619C|ZBTB1_uc001xhi.2_Missense_Mutation_p.R619C NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 619 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TTTAAGAGAGCGTCAGTTGCG 0.403 SPTB 6710 broad.mit.edu 37 14 65268106 65268106 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:65268106G>A uc001xht.2 - 6 714 c.660C>T c.(658-660)ATC>ATT p.I220I SPTB_uc001xhr.2_Silent_p.I220I|SPTB_uc001xhs.2_Silent_p.I220I|SPTB_uc001xhu.2_Silent_p.I220I NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 220 Actin-binding.|CH 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TATCAAAGTCGATCAGGTCGG 0.582 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C14orf115 55237 broad.mit.edu 37 14 74825436 74825436 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:74825436G>T uc001xpw.3 + 2 2141 c.1950G>T c.(1948-1950)AAG>AAT p.K650N NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 650 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CTACCACGAAGTTCAAGGCCC 0.612 TMED8 283578 broad.mit.edu 37 14 77809767 77809767 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:77809767T>C uc001xto.1 - 5 514 c.514A>G c.(514-516)AAA>GAA p.K172E TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.K16E NM_213601 NP_998766 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain 172 GOLD. transport integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) AGCTTGCTTTTGAATTCCTTC 0.537 C14orf174 161394 broad.mit.edu 37 14 77857387 77857387 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:77857387G>A uc001xtq.1 + 3 1825 c.1825G>A c.(1825-1827)GAA>AAA p.E609K NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 609 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) CCTGGAAATTGAAGAGCCATT 0.383 TTC7B 145567 broad.mit.edu 37 14 91044497 91044497 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:91044497C>G uc001xyp.2 - 19 2385 c.2263G>C c.(2263-2265)GAG>CAG p.E755Q TTC7B_uc001xyo.2_Missense_Mutation_p.E199Q|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 755 TPR 9. binding ovary(2) 2 Melanoma(154;0.222) GCTAAGGCCTCTTCATACCAC 0.632 JAG2 3714 broad.mit.edu 37 14 105609319 105609319 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr14:105609319G>A uc001yqg.2 - 26 3834 c.3430C>T c.(3430-3432)CAC>TAC p.H1144Y JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.H548Y|JAG2_uc001yqh.2_Missense_Mutation_p.H1106Y NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 1144 Cytoplasmic (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ACGTCCTTGTGGCCCCCCGGC 0.473 TRPM1 4308 broad.mit.edu 37 15 31339349 31339349 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:31339349G>A uc001zfm.2 - 14 1791 c.1663C>T c.(1663-1665)CGG>TGG p.R555W TRPM1_uc010azy.2_Missense_Mutation_p.R462W|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 555 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TAAAGGGTCCGAAAGTTTTTC 0.517 C15orf29 79768 broad.mit.edu 37 15 34440952 34440952 + Splice_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:34440952C>G uc001zhp.2 - 5 599 c.439_splice c.e5-1 p.V147_splice C15orf29_uc010ubz.1_Splice_Site_p.V51_splice|C15orf29_uc010uca.1_Intron NM_024713 NP_078989 Q9H079 CO029_HUMAN hypothetical protein LOC79768 nucleolus ovary(1) 1 all_lung(180;1.86e-06) all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229) CCTGAGAAACCTGAAAGGCAA 0.338 ACTC1 70 broad.mit.edu 37 15 35082638 35082638 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:35082638G>C uc001ziu.1 - 7 1352 c.1109C>G c.(1108-1110)TCC>TGC p.S370C uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 370 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GTGGACAATGGATGGGCCTGC 0.502 FBN1 2200 broad.mit.edu 37 15 48797306 48797306 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:48797306C>G uc001zwx.1 - 16 2204 c.1876G>C c.(1876-1878)GGG>CGG p.G626R NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 626 EGF-like 10; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACGCAACGCCCATTCATGCAG 0.443 CGNL1 84952 broad.mit.edu 37 15 57838432 57838432 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:57838432C>T uc002aeg.2 + 18 3844 c.3768C>T c.(3766-3768)GAC>GAT p.D1256D CGNL1_uc010bfw.2_Silent_p.D1256D NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 1256 Potential. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGAAGAAGGACTTAAGGTGGG 0.532 TLN2 83660 broad.mit.edu 37 15 63040577 63040577 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:63040577C>G uc002alb.3 + 30 4053 c.4053C>G c.(4051-4053)CTC>CTG p.L1351L TLN2_uc002alc.3_5'UTR NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1351 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TCAATCAACTCATCACTCTGT 0.473 TPM1 7168 broad.mit.edu 37 15 63335135 63335135 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:63335135G>A uc002alg.2 + 1 298 c.107G>A c.(106-108)AGC>AAC p.S36N TPM1_uc002alh.2_Missense_Mutation_p.S36N|TPM1_uc010bgn.2_RNA|TPM1_uc002ali.2_Missense_Mutation_p.S36N|TPM1_uc002alj.2_Missense_Mutation_p.S36N|TPM1_uc002alk.2_Missense_Mutation_p.S36N|TPM1_uc002all.2_Missense_Mutation_p.S36N|TPM1_uc002alm.2_Missense_Mutation_p.S36N|TPM1_uc010uie.1_Missense_Mutation_p.S36N|TPM1_uc002alp.2_Missense_Mutation_p.S36N NM_001018005 NP_001018005 P09493 TPM1_HUMAN tropomyosin 1 alpha chain isoform 1 36 By similarity. cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle 0 GAAGACAGGAGCAAGCAGGTC 0.682 DPP8 54878 broad.mit.edu 37 15 65792991 65792991 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:65792991C>T uc002aov.2 - 4 2125 c.547G>A c.(547-549)GGT>AGT p.G183S DPP8_uc002aow.2_Missense_Mutation_p.G183S|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.G167S|DPP8_uc002aoy.2_Missense_Mutation_p.G183S|DPP8_uc002aoz.2_Missense_Mutation_p.G167S|DPP8_uc010bhj.2_Missense_Mutation_p.G183S|DPP8_uc002apa.2_Missense_Mutation_p.G80S NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 183 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 ATTCCACTACCGGCTTGAAAC 0.398 TBC1D21 161514 broad.mit.edu 37 15 74180816 74180816 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:74180816G>T uc002avz.2 + 10 1023 c.940G>T c.(940-942)GCC>TCC p.A314S TBC1D21_uc010ulc.1_Missense_Mutation_p.A278S NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 314 intracellular Rab GTPase activator activity ovary(2) 2 GCTGATCTCTGCCGCCTGCGT 0.448 C15orf39 56905 broad.mit.edu 37 15 75500588 75500588 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:75500588G>A uc002azp.3 + 2 2519 c.2199G>A c.(2197-2199)CAG>CAA p.Q733Q C15orf39_uc002azq.3_Silent_p.Q733Q|C15orf39_uc002azr.3_Silent_p.Q131Q NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 733 0 ctcgagctcaggctccagctt 0.244 MEX3B 84206 broad.mit.edu 37 15 82336071 82336071 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:82336071G>A uc002bgq.1 - 2 1455 c.1140C>T c.(1138-1140)TTC>TTT p.F380F NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 380 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 GGGACCGCTCGAACTGGGCCC 0.542 WHAMM 123720 broad.mit.edu 37 15 83499525 83499525 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:83499525A>C uc002bje.2 + 9 2322 c.1816A>C c.(1816-1818)AGC>CGC p.S606R NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 606 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 TAATGTGAAAAGCCCCAAGTG 0.458 IGF1R 3480 broad.mit.edu 37 15 99500476 99500476 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:99500476C>T uc002bul.2 + 21 3959 c.3909C>T c.(3907-3909)GTC>GTT p.V1303V IGF1R_uc010bon.2_Silent_p.V1302V NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 1303 Cytoplasmic (Potential). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TGGAGAGCGTCCCCCTGGACC 0.672 OR4F15 390649 broad.mit.edu 37 15 102358635 102358635 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:102358635T>C uc010uts.1 + 1 246 c.246T>C c.(244-246)ATT>ATC p.I82I NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTAAGATGATTTGTGATATTT 0.453 CHTF18 63922 broad.mit.edu 37 16 841339 841339 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:841339G>T uc002cke.3 + 8 1136 c.1073G>T c.(1072-1074)GGG>GTG p.G358V RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.G386V|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 358 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) CTGGAGGCTGGGCTGGACCCG 0.687 ABAT 18 broad.mit.edu 37 16 8870335 8870335 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:8870335G>A uc002czc.3 + 14 1423 c.1257G>A c.(1255-1257)CTG>CTA p.L419L ABAT_uc002czd.3_Silent_p.L419L|ABAT_uc010buh.2_Silent_p.L361L|ABAT_uc010bui.2_Silent_p.L419L NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 419 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TCACAGGACTGCTGGACCTCC 0.632 GRIN2A 2903 broad.mit.edu 37 16 9862770 9862770 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:9862770G>C uc002czo.3 - 12 3081 c.2533C>G c.(2533-2535)CTG>GTG p.L845V GRIN2A_uc010uym.1_Missense_Mutation_p.L845V|GRIN2A_uc010uyn.1_Missense_Mutation_p.L688V|GRIN2A_uc002czr.3_Missense_Mutation_p.L845V NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 845 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAGAAGCGCAGCTTCCAGTAG 0.582 NOMO1 23420 broad.mit.edu 37 16 14960412 14960412 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:14960412T>G uc002dcv.2 + 15 1736 c.1670T>G c.(1669-1671)ATA>AGA p.I557R NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 557 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 GCTTTTGCAGTAAGCATCATG 0.478 NOMO1 23420 broad.mit.edu 37 16 14960427 14960427 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:14960427A>C uc002dcv.2 + 15 1751 c.1685A>C c.(1684-1686)GAG>GCG p.E562A NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 562 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 ATCATGCATGAGGATTGGTGC 0.507 XYLT1 64131 broad.mit.edu 37 16 17252692 17252692 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:17252692T>A uc002dfa.2 - 6 1449 c.1364A>T c.(1363-1365)AAT>ATT p.N455I NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 455 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CTACCTTGCATTGTCCCGGCC 0.473 SEPT1 1731 broad.mit.edu 37 16 30393094 30393094 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:30393094C>G uc002dxy.2 - 5 479 c.292G>C c.(292-294)GAC>CAC p.D98H SEPT1_uc002dxx.2_Intron|SEPT1_uc010veq.1_Missense_Mutation_p.D145H NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 98 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) TCAGAGCAGTCCACTGAGTCC 0.582 GPR97 222487 broad.mit.edu 37 16 57714457 57714457 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:57714457G>A uc002emh.2 + 8 912 c.809G>A c.(808-810)CGC>CAC p.R270H GPR97_uc010vhv.1_Missense_Mutation_p.R150H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'UTR NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 270 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 ATCCTCACACGCATCTCCCAG 0.577 KCNG4 93107 broad.mit.edu 37 16 84270991 84270991 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr16:84270991G>A uc010voc.1 - 2 222 c.101C>T c.(100-102)CCG>CTG p.P34L KCNG4_uc002fhu.1_Missense_Mutation_p.P34L NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 34 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CTTGATGGACGGCGTCTCCAT 0.632 SMG6 23293 broad.mit.edu 37 17 2090057 2090057 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:2090057G>A uc002fub.1 - 12 3110 c.3055C>T c.(3055-3057)CTG>TTG p.L1019L SMG6_uc010vqv.1_Silent_p.L111L NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 1019 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 AGCTCCTTCAGGTCCGGGACA 0.577 SENP3 26168 broad.mit.edu 37 17 7468308 7468308 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:7468308A>C uc002ghm.2 + 4 1261 c.988A>C c.(988-990)AGC>CGC p.S330R EIF4A1_uc002gho.1_5'UTR|SENP3_uc002ghn.1_Missense_Mutation_p.S165R NM_015670 NP_056485 Q9H4L4 SENP3_HUMAN SUMO1/sentrin/SMT3 specific protease 3 330 proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity ovary(1)|central_nervous_system(1) 2 Prostate(122;0.157) AACGTATGGCAGCCTCATACC 0.552 RAI1 10743 broad.mit.edu 37 17 17698318 17698318 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:17698318C>G uc002grm.2 + 3 2525 c.2056C>G c.(2056-2058)CTG>GTG p.L686V RAI1_uc002grn.1_Missense_Mutation_p.L686V NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 686 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CAGCCCAGGGCTGTTTGAAGA 0.637 RAD51L3 5892 broad.mit.edu 37 17 33428247 33428247 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:33428247C>A uc002hir.2 - 9 1132 c.876G>T c.(874-876)ATG>ATT p.M292I RFFL_uc002hiq.2_Missense_Mutation_p.M133I|RAD51L3_uc010ctj.2_Missense_Mutation_p.G111C|RAD51L3_uc010wcd.1_Missense_Mutation_p.M312I|RAD51L3_uc002his.2_Missense_Mutation_p.M180I|RAD51L3_uc010ctk.2_Missense_Mutation_p.M173I|RAD51L3_uc010wce.1_Missense_Mutation_p.M173I|RAD51L3_uc002hit.2_Missense_Mutation_p.M173I|RAD51L3_uc002hiu.2_Missense_Mutation_p.M115I NM_002878 NP_002869 O75771 RA51D_HUMAN RAD51-like 3 isoform 1 292 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CCAGACACGCCATGCGCCGGC 0.617 Direct_reversal_of_damage|Homologous_recombination KRTAP4-2 85291 broad.mit.edu 37 17 39334306 39334306 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:39334306G>T uc002hwd.2 - 1 155 c.111C>A c.(109-111)CGC>CGA p.R37R NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 37 5.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) AGCAGCTGGGGCGGCAGCAGG 0.657 GAST 2520 broad.mit.edu 37 17 39871710 39871710 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:39871710G>A uc002hxl.2 + 2 54 c.22G>A c.(22-24)GTG>ATG p.V8M JUP_uc010wfs.1_Intron NM_000805 NP_000796 P01350 GAST_HUMAN gastrin preproprotein 8 extracellular region hormone activity 0 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) GTGTGTGTATGTGCTGATCTT 0.592 KAT2A 2648 broad.mit.edu 37 17 40269797 40269797 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:40269797C>T uc002hyx.2 - 9 1387 c.1327G>A c.(1327-1329)GAG>AAG p.E443K NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 443 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 TTGGCATCCTCCAGGGTCAGG 0.572 BECN1 8678 broad.mit.edu 37 17 40966663 40966663 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:40966663T>C uc002ibo.3 - 9 994 c.859A>G c.(859-861)AAC>GAC p.N287D BECN1_uc010whb.1_Missense_Mutation_p.N200D|BECN1_uc010whc.1_Missense_Mutation_p.N211D|BECN1_uc002ibn.2_Missense_Mutation_p.N287D NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 287 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) AGCCTGAAGTTATTGATTGTG 0.498 GIP 2695 broad.mit.edu 37 17 47041686 47041686 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:47041686C>G uc002iol.1 - 3 341 c.243G>C c.(241-243)AAG>AAC p.K81N NM_004123 NP_004114 P09681 GIP_HUMAN gastric inhibitory polypeptide preproprotein 81 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity skin(1) 1 TCTTCTTCCCCTTTTGGGCCA 0.557 LUC7L3 51747 broad.mit.edu 37 17 48817692 48817692 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:48817692A>G uc002isr.2 + 3 309 c.192A>G c.(190-192)GAA>GAG p.E64E LUC7L3_uc002isp.1_5'UTR|LUC7L3_uc010wmw.1_5'UTR|LUC7L3_uc002isq.2_Silent_p.E64E|LUC7L3_uc002iss.2_Silent_p.E64E NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 64 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 TTCATGATGAAAATCTACGAA 0.323 MRC2 9902 broad.mit.edu 37 17 60765989 60765989 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:60765989C>G uc002jad.2 + 22 3591 c.3189C>G c.(3187-3189)CCC>CCG p.P1063P MRC2_uc002jae.2_Silent_p.P134P|MRC2_uc002jaf.2_Missense_Mutation_p.P9R NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1063 Extracellular (Potential).|C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTGGGGAGCCCTCTGGCCCTA 0.632 SCN4A 6329 broad.mit.edu 37 17 62049151 62049151 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:62049151A>C uc002jds.1 - 4 619 c.542T>G c.(541-543)TTC>TGC p.F181C NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 181 I. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GTCGACACAGAAGCCTCGGGC 0.607 ENGASE 64772 broad.mit.edu 37 17 77077146 77077146 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:77077146A>T uc002jwv.2 + 6 871 c.863A>T c.(862-864)CAG>CTG p.Q288L ENGASE_uc002jwu.1_Missense_Mutation_p.Q288L|ENGASE_uc010wtz.1_Missense_Mutation_p.Q102L|ENGASE_uc002jww.2_5'UTR NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 288 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 GAACTCAACCAGCACAACAGG 0.657 DUS1L 64118 broad.mit.edu 37 17 80016246 80016246 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:80016246C>T uc002kdq.2 - 12 1672 c.1253G>A c.(1252-1254)CGA>CAA p.R418Q DUS1L_uc002kdp.2_Silent_p.A284A|DUS1L_uc002kdr.2_Missense_Mutation_p.R418Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 418 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TTTGGAGGCTCGCTTCTTGCA 0.672 DUS1L 64118 broad.mit.edu 37 17 80019827 80019827 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:80019827C>T uc002kdq.2 - 5 962 c.543G>A c.(541-543)CAG>CAA p.Q181Q DUS1L_uc002kdp.2_Silent_p.Q50Q|DUS1L_uc002kdr.2_Silent_p.Q181Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Silent_p.Q164Q NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 181 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGGCCCCTTCTGCTCCTTGG 0.498 CABYR 26256 broad.mit.edu 37 18 21736628 21736628 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr18:21736628C>G uc002kux.2 + 4 1315 c.1163C>G c.(1162-1164)TCT>TGT p.S388C CABYR_uc010xbb.1_Missense_Mutation_p.S290C|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.S370C|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA NM_012189 NP_036321 O75952 CABYR_HUMAN calcium-binding tyrosine 388 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding 0 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) GCTCTGCTCTCTGACACATCT 0.428 PHLPP1 23239 broad.mit.edu 37 18 60646462 60646462 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr18:60646462A>G uc002lis.2 + 18 3594 c.3416A>G c.(3415-3417)TAT>TGT p.Y1139C NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1651 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 CCTGGAGGCTATTTTGCTGCC 0.512 GALR1 2587 broad.mit.edu 37 18 74962768 74962768 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr18:74962768C>T uc002lms.3 + 1 761 c.264C>T c.(262-264)TGC>TGT p.C88C NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 88 Helical; Name=2; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TGCTCTTCTGCATCCCCTTCC 0.627 SBNO2 22904 broad.mit.edu 37 19 1109765 1109765 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:1109765C>T uc002lrk.3 - 27 3278 c.3040G>A c.(3040-3042)GGT>AGT p.G1014S SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Missense_Mutation_p.G957S|SBNO2_uc010dse.2_Missense_Mutation_p.G997S|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 1014 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTCGATACCGGGAGCAAGG 0.672 STK11 6794 broad.mit.edu 37 19 1219322 1219322 + Splice_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:1219322C>G uc002lrl.1 + 3 1490 c.375_splice c.e3-1 p.M125_splice NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TAGCGCCCCACGTATATGGTG 0.657 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) PTPRS 5802 broad.mit.edu 37 19 5218806 5218806 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:5218806T>G uc002mbv.2 - 24 4161 c.3927A>C c.(3925-3927)AAA>AAC p.K1309N PTPRS_uc002mbu.1_Missense_Mutation_p.K878N|PTPRS_uc010xin.1_Missense_Mutation_p.K878N|PTPRS_uc002mbw.2_Missense_Mutation_p.K1287N|PTPRS_uc002mbx.2_Missense_Mutation_p.K882N|PTPRS_uc002mby.2_Missense_Mutation_p.K878N NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1309 Cytoplasmic (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ACCTGTCGGGTTTGCTGTTCC 0.517 SLC25A23 79085 broad.mit.edu 37 19 6444244 6444244 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:6444244C>T uc002mex.1 - 9 1282 c.1140G>A c.(1138-1140)CTG>CTA p.L380L SLC25A23_uc010duu.1_RNA|SLC25A23_uc002meu.2_RNA|SLC25A23_uc002mev.2_RNA|SLC25A23_uc002mew.1_RNA|SLC25A23_uc010xjd.1_Silent_p.L141L NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN solute carrier family 25, member 23 380 Helical; Name=5; (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1)|pancreas(1) 2 TACCGCAGGCCAGGAGCACGA 0.642 ARHGEF18 23370 broad.mit.edu 37 19 7523439 7523439 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:7523439G>T uc002mgi.2 + 9 1912 c.1659G>T c.(1657-1659)GTG>GTT p.V553V ARHGEF18_uc010xjm.1_Silent_p.V395V|ARHGEF18_uc002mgh.2_Silent_p.V395V|ARHGEF18_uc002mgj.1_Silent_p.V196V NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 553 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) AGCTCATCGTGAGGGAAGTGG 0.537 STXBP2 6813 broad.mit.edu 37 19 7711164 7711164 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:7711164G>A uc002mha.3 + 16 1431 c.1386G>A c.(1384-1386)CCG>CCA p.P462P STXBP2_uc002mhb.3_Silent_p.P459P|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.P473P|STXBP2_uc010dvk.2_Silent_p.P430P|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_Silent_p.P90P NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 462 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 GGCTGGAGCCGAGAGAACGCA 0.677 ACP5 54 broad.mit.edu 37 19 11687884 11687884 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:11687884G>A uc002msg.3 - 2 395 c.249C>T c.(247-249)GAC>GAT p.D83D ACP5_uc002msh.3_Silent_p.D83D|ACP5_uc002msi.3_Silent_p.D83D|ACP5_uc002msj.3_Silent_p.D83D|ACP5_uc010dye.1_Silent_p.D83D NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 83 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 GGAACCTCTTGTCATTGATGT 0.562 KLF1 10661 broad.mit.edu 37 19 12996891 12996891 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:12996891G>T uc002mvo.2 - 2 216 c.153C>A c.(151-153)CTC>CTA p.L51L NM_006563 NP_006554 Q13351 KLF1_HUMAN erythroid Kruppel-like factor 51 Pro-rich. erythrocyte differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 Hepatocellular(1079;0.137) GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18) ACTTCACGTGGAGGGGCGGCT 0.697 RAB3A 5864 broad.mit.edu 37 19 18311163 18311163 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:18311163C>T uc002nie.2 - 3 490 c.321G>A c.(319-321)GAG>GAA p.E107E NM_002866 NP_002857 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 107 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity 0 TGAAGGATTCCTCGTTGGTGA 0.413 GRAMD1A 57655 broad.mit.edu 37 19 35510135 35510135 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:35510135C>G uc010xse.1 + 12 1391 c.1254C>G c.(1252-1254)CAC>CAG p.H418Q GRAMD1A_uc002nxk.2_Missense_Mutation_p.H411Q|GRAMD1A_uc002nxl.2_Missense_Mutation_p.H184Q|GRAMD1A_uc010xsf.1_Missense_Mutation_p.H423Q|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.H33Q NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 418 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCAAGTGCCACCAGCGCCGGG 0.667 ARHGAP33 115703 broad.mit.edu 37 19 36273737 36273737 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:36273737A>C uc002obr.1 + 15 1472 c.1387A>C c.(1387-1389)AAC>CAC p.N463H ARHGAP33_uc002obs.1_Missense_Mutation_p.N463H|ARHGAP33_uc002obt.1_Missense_Mutation_p.N327H|ARHGAP33_uc010eel.2_Missense_Mutation_p.N51H|ARHGAP33_uc002obv.1_Missense_Mutation_p.N51H NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 463 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 GCATGCCCGCAACCTGGCCAT 0.657 ACTN4 81 broad.mit.edu 37 19 39207941 39207941 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:39207941G>A uc002oja.1 + 10 1187 c.1128G>A c.(1126-1128)GAG>GAA p.E376E ACTN4_uc010egc.1_Silent_p.E376E NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 376 Spectrin 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGCCCTCCGAGGGCAAGATGG 0.617 SPTBN4 57731 broad.mit.edu 37 19 41009957 41009957 + Missense_Mutation SNP G G A rs145007629 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:41009957G>A uc002ony.2 + 12 1669 c.1583G>A c.(1582-1584)CGG>CAG p.R528Q SPTBN4_uc002onx.2_Missense_Mutation_p.R528Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R528Q NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 528 Spectrin 3. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGTGCCCGGCGGACACGACTT 0.652 LTBP4 8425 broad.mit.edu 37 19 41115559 41115559 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:41115559G>C uc002ooh.1 + 13 1751 c.1751G>C c.(1750-1752)CGA>CCA p.R584P LTBP4_uc002oog.1_Missense_Mutation_p.R547P|LTBP4_uc002ooi.1_Missense_Mutation_p.R517P|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 584 Cys-rich.|EGF-like 3. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGGCACCCGATGCATTGGT 0.692 GRIK5 2901 broad.mit.edu 37 19 42510076 42510076 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:42510076G>A uc002osj.1 - 16 2097 c.2062C>T c.(2062-2064)CGC>TGC p.R688C GRIK5_uc002osi.1_Missense_Mutation_p.R260C NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 688 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) TTCCACATGCGCTGGTACGTT 0.587 GSK3A 2931 broad.mit.edu 37 19 42736796 42736796 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:42736796G>A uc002otb.1 - 9 1256 c.1137C>T c.(1135-1137)CTC>CTT p.L379L GSK3A_uc002ota.1_Silent_p.L297L|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 379 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) GGCTAGAGCAGAGCGCGATGG 0.587 IRGC 56269 broad.mit.edu 37 19 44223739 44223739 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:44223739C>G uc002oxh.2 + 2 1176 c.1029C>G c.(1027-1029)GTC>GTG p.V343V NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 343 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CTGAGACTGTCCTGCGGCTCT 0.672 ZNF230 7773 broad.mit.edu 37 19 44514462 44514462 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:44514462C>A uc002oyb.1 + 5 522 c.271C>A c.(271-273)CCT>ACT p.P91T NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 91 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TGAAGACTGCCCTTGCCAGCA 0.438 ZNF233 353355 broad.mit.edu 37 19 44778486 44778486 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:44778486A>G uc002oyz.1 + 5 1800 c.1673A>G c.(1672-1674)CAT>CGT p.H558R ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.H373R NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 558 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) CAGCAAGTCCATACTGGAGAG 0.478 ZNF296 162979 broad.mit.edu 37 19 45574995 45574995 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:45574995C>T uc002pao.2 - 3 1349 c.1292G>A c.(1291-1293)CGC>CAC p.R431H NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 431 C2H2-type 5. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCGGCGGTGGCGGTTGAGCTT 0.667 PPM1N 147699 broad.mit.edu 37 19 46002514 46002514 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:46002514C>A uc002pce.2 + 1 784 c.784C>A c.(784-786)CGC>AGC p.R262S RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank NM_001080401 NP_001073870 Q8N819 PPM1N_HUMAN protein phosphatase 1B-like 262 PP2C-like. magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity 0 CGCACTGGCACGCCAGGCTGA 0.662 CCDC9 26093 broad.mit.edu 37 19 47774720 47774720 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:47774720C>T uc010xym.1 + 12 1588 c.1381C>T c.(1381-1383)CCC>TCC p.P461S NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 461 0 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CACCGGGATCCCCTGCAGTGA 0.512 EHD2 30846 broad.mit.edu 37 19 48244185 48244185 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:48244185G>A uc002phj.3 + 6 1378 c.1128G>A c.(1126-1128)CCG>CCA p.P376P EHD2_uc010xyu.1_Silent_p.P240P|EHD2_uc010xyv.1_Silent_p.P59P NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 376 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CGCTGAAGCCGAAGCTGCTAG 0.642 ZNF677 342926 broad.mit.edu 37 19 53741187 53741187 + Missense_Mutation SNP A A G rs141599719 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:53741187A>G uc002qbf.1 - 5 978 c.793T>C c.(793-795)TGT>CGT p.C265R ZNF677_uc002qbg.1_Missense_Mutation_p.C265R NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 265 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) CAGTCATTACACTTGTATGAT 0.343 PRKCG 5582 broad.mit.edu 37 19 54409676 54409676 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:54409676C>T uc002qcq.1 + 17 2152 c.1870C>T c.(1870-1872)CGA>TGA p.R624* PRKCG_uc010yeg.1_Nonsense_Mutation_p.R624*|PRKCG_uc010yeh.1_Nonsense_Mutation_p.R475* NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 624 AGC-kinase C-terminal. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GCGGCTGGAACGATTGGAGAT 0.622 OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM190 147744 broad.mit.edu 37 19 55889085 55889085 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:55889085C>G uc002qkt.1 + 3 237 c.219C>G c.(217-219)GAC>GAG p.D73E NM_139172 NP_631911 Q8WZ59 TM190_HUMAN transmembrane protein 190 precursor 73 Extracellular (Potential). integral to membrane 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGCGTCCAGACGGTGAGGGCT 0.682 NLRP4 147945 broad.mit.edu 37 19 56388502 56388502 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:56388502C>T uc002qmd.3 + 8 3088 c.2666C>T c.(2665-2667)ACG>ATG p.T889M NLRP4_uc002qmf.2_Missense_Mutation_p.T814M|NLRP4_uc010etf.2_Missense_Mutation_p.T664M NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 889 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) CGGGCTCTGACGCATACGGAT 0.493 ZSCAN4 201516 broad.mit.edu 37 19 58189625 58189625 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:58189625C>T uc002qpu.2 + 5 1351 c.654C>T c.(652-654)TCC>TCT p.S218S NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 218 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 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;0.026) AAATAGTTTCCCTAATCATCA 0.403 OTOF 9381 broad.mit.edu 37 2 26699838 26699838 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:26699838G>A uc002rhk.2 - 22 2724 c.2597C>T c.(2596-2598)CCC>CTC p.P866L OTOF_uc002rhh.2_Missense_Mutation_p.P119L|OTOF_uc002rhi.2_Missense_Mutation_p.P176L|OTOF_uc002rhj.2_Missense_Mutation_p.P119L NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 866 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCTTGGAGGGCACACGGGC 0.612 KIAA1841 84542 broad.mit.edu 37 2 61310371 61310371 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:61310371A>C uc002saw.3 + 8 1115 c.812A>C c.(811-813)AAT>ACT p.N271T KIAA1841_uc002sax.3_Missense_Mutation_p.N125T|KIAA1841_uc002say.2_Missense_Mutation_p.N271T|KIAA1841_uc002sav.3_Missense_Mutation_p.N271T NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 271 0 Epithelial(17;0.193) ATTAATGCAAATCTTCTCACA 0.299 VPS54 51542 broad.mit.edu 37 2 64144060 64144060 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:64144060G>A uc002scq.2 - 16 2365 c.2202C>T c.(2200-2202)GTC>GTT p.V734V VPS54_uc002scp.2_Silent_p.V722V|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Silent_p.V219V|VPS54_uc010fct.2_Silent_p.V581V NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 734 protein transport|retrograde transport, endosome to Golgi 0 GTTGTCCCTCGACAATAAGAA 0.388 ZNF638 27332 broad.mit.edu 37 2 71653954 71653954 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:71653954A>T uc002shx.2 + 24 5274 c.4955A>T c.(4954-4956)GAT>GTT p.D1652V ZNF638_uc002shy.2_Missense_Mutation_p.D1652V|ZNF638_uc002shz.2_Missense_Mutation_p.D1652V|ZNF638_uc002sia.2_Missense_Mutation_p.D1652V|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.D749V|ZNF638_uc002sid.2_Missense_Mutation_p.D21V NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1652 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ATTGACCAAGATGATTGCATT 0.353 DYSF 8291 broad.mit.edu 37 2 71747335 71747335 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:71747335C>A uc002sie.2 + 10 1310 c.934C>A c.(934-936)CCC>ACC p.P312T DYSF_uc010feg.2_Missense_Mutation_p.P343T|DYSF_uc010feh.2_Missense_Mutation_p.P312T|DYSF_uc002sig.3_Missense_Mutation_p.P312T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P312T|DYSF_uc010fef.2_Missense_Mutation_p.P343T|DYSF_uc010fei.2_Missense_Mutation_p.P343T|DYSF_uc010fek.2_Missense_Mutation_p.P344T|DYSF_uc010fej.2_Missense_Mutation_p.P313T|DYSF_uc010fel.2_Missense_Mutation_p.P313T|DYSF_uc010feo.2_Missense_Mutation_p.P344T|DYSF_uc010fem.2_Missense_Mutation_p.P313T|DYSF_uc010fen.2_Missense_Mutation_p.P344T|DYSF_uc002sif.2_Missense_Mutation_p.P313T NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 312 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TTACAGAGAGCCCCGTGAGTT 0.458 DYSF 8291 broad.mit.edu 37 2 71883377 71883377 + Missense_Mutation SNP C C T rs144422408 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:71883377C>T uc002sie.2 + 42 4971 c.4595C>T c.(4594-4596)ACG>ATG p.T1532M DYSF_uc010feg.2_Missense_Mutation_p.T1563M|DYSF_uc010feh.2_Missense_Mutation_p.T1539M|DYSF_uc002sig.3_Missense_Mutation_p.T1518M|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T1553M|DYSF_uc010fef.2_Missense_Mutation_p.T1570M|DYSF_uc010fei.2_Missense_Mutation_p.T1549M|DYSF_uc010fek.2_Missense_Mutation_p.T1550M|DYSF_uc010fej.2_Missense_Mutation_p.T1540M|DYSF_uc010fel.2_Missense_Mutation_p.T1519M|DYSF_uc010feo.2_Missense_Mutation_p.T1564M|DYSF_uc010fem.2_Missense_Mutation_p.T1554M|DYSF_uc010fen.2_Missense_Mutation_p.T1571M|DYSF_uc002sif.2_Missense_Mutation_p.T1533M|DYSF_uc010yqy.1_Missense_Mutation_p.T413M|DYSF_uc010yqz.1_Missense_Mutation_p.T293M NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1532 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGGGGCAAGACGCAGGAGGAG 0.522 ALMS1 7840 broad.mit.edu 37 2 73784420 73784420 + Silent SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:73784420A>C uc002sje.1 + 16 10266 c.10155A>C c.(10153-10155)ACA>ACC p.T3385T ALMS1_uc002sjf.1_Silent_p.T3341T|ALMS1_uc002sjg.2_Silent_p.T2771T|ALMS1_uc002sjh.1_Silent_p.T2771T|ALMS1_uc010fev.1_Silent_p.T143T NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3383 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTCACAGTACAAGGGCAGTGA 0.423 TCF7L1 83439 broad.mit.edu 37 2 85536584 85536584 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:85536584A>G uc002soy.2 + 12 1840 c.1766A>G c.(1765-1767)TAA>TGA p.*589* NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN HMG-box transcription factor TCF-3 589 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1)|central_nervous_system(1) 3 TCTGCCCACTAAGCTCCCCCC 0.557 ASTL 431705 broad.mit.edu 37 2 96789646 96789646 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:96789646T>C uc010yui.1 - 9 1239 c.1239A>G c.(1237-1239)CCA>CCG p.P413P NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 413 proteolysis metalloendopeptidase activity|zinc ion binding 0 CTGGCAGAGCTGGGCTTCCCT 0.587 MAP4K4 9448 broad.mit.edu 37 2 102476248 102476248 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:102476248G>A uc002tbg.2 + 15 1681 c.1626G>A c.(1624-1626)CCG>CCA p.P542P MAP4K4_uc002tbc.2_Silent_p.P542P|MAP4K4_uc002tbd.2_Silent_p.P511P|MAP4K4_uc002tbe.2_Silent_p.P511P|MAP4K4_uc002tbf.2_Silent_p.P511P|MAP4K4_uc010yvy.1_Silent_p.P511P|MAP4K4_uc002tbh.2_Silent_p.P511P|MAP4K4_uc002tbi.2_Silent_p.P395P|MAP4K4_uc010yvz.1_Silent_p.P491P|MAP4K4_uc002tbk.2_Silent_p.P51P|MAP4K4_uc002tbj.1_Silent_p.P407P NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 542 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CGCCACCACCGCAGCAGGAAA 0.592 CCDC74B 91409 broad.mit.edu 37 2 130897829 130897829 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:130897829G>A uc002tqm.1 - 5 861 c.799C>T c.(799-801)CGA>TGA p.R267* CCDC74B_uc010yzw.1_Nonsense_Mutation_p.R369*|CCDC74B_uc002tqn.1_Nonsense_Mutation_p.R201* NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 267 0 Colorectal(110;0.1) GTGGGCTTTCGCAGGGGAAGG 0.647 LCT 3938 broad.mit.edu 37 2 136566925 136566925 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:136566925C>A uc002tuu.1 - 8 3003 c.2992G>T c.(2992-2994)GAT>TAT p.D998Y NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 998 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) TTGTAATAATCAACCCCATGA 0.507 KCNJ3 3760 broad.mit.edu 37 2 155566194 155566194 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:155566194A>C uc002tyv.1 + 2 977 c.782A>C c.(781-783)CAA>CCA p.Q261P KCNJ3_uc010zce.1_Intron NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 261 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) GGGGCAGATCAACTTTTTCTT 0.483 SCN3A 6328 broad.mit.edu 37 2 166026964 166026964 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:166026964A>C uc002ucx.2 - 4 851 c.359T>G c.(358-360)ATT>AGT p.I120S SCN3A_uc002ucy.2_Missense_Mutation_p.I120S|SCN3A_uc002ucz.2_Missense_Mutation_p.I120S|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 120 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CTTGATAGCAATTTTCCTAAC 0.303 G6PC2 57818 broad.mit.edu 37 2 169763222 169763222 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:169763222T>A uc002uem.2 + 4 581 c.489T>A c.(487-489)AGT>AGA p.S163R G6PC2_uc002uen.2_Intron|G6PC2_uc010fpv.2_Missense_Mutation_p.S47R NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 163 Helical; (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 TTCAAATCAGTGTCTGCATCT 0.373 HOXD3 3232 broad.mit.edu 37 2 177036786 177036786 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:177036786C>T uc002ukt.1 + 3 1259 c.1083C>T c.(1081-1083)AAC>AAT p.N361N NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 361 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) TGGGCGGCAACTTCGTCGAGT 0.701 TTN 7273 broad.mit.edu 37 2 179470142 179470142 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:179470142T>A uc010zfg.1 - 228 46400 c.46176A>T c.(46174-46176)GAA>GAT p.E15392D uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E9087D|TTN_uc010zfi.1_Missense_Mutation_p.E9020D|TTN_uc010zfj.1_Missense_Mutation_p.E8895D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16319 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) ATTCCGCACCTTCATCATCTT 0.333 TTN 7273 broad.mit.edu 37 2 179631273 179631273 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:179631273A>G uc010zfg.1 - 41 9762 c.9538T>C c.(9538-9540)TAT>CAT p.Y3180H TTN_uc010zfh.1_Missense_Mutation_p.Y3134H|TTN_uc010zfi.1_Missense_Mutation_p.Y3134H|TTN_uc010zfj.1_Missense_Mutation_p.Y3134H|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.Y3180H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3180 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) CCATCTTTATACCAGTGGGCA 0.383 TTN 7273 broad.mit.edu 37 2 179635333 179635333 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:179635333T>G uc010zfg.1 - 35 8410 c.8186A>C c.(8185-8187)GAG>GCG p.E2729A TTN_uc010zfh.1_Missense_Mutation_p.E2683A|TTN_uc010zfi.1_Missense_Mutation_p.E2683A|TTN_uc010zfj.1_Missense_Mutation_p.E2683A|TTN_uc002unb.2_Missense_Mutation_p.E2729A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2729 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) GTGTGTAAGCTCGACAGTGAA 0.383 LANCL1 10314 broad.mit.edu 37 2 211319933 211319933 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:211319933C>T uc010zjh.1 - 4 380 c.305G>A c.(304-306)CGC>CAC p.R102H LANCL1_uc002ved.2_Missense_Mutation_p.R102H|LANCL1_uc010fuq.2_Missense_Mutation_p.R102H NM_001136574 NP_001130046 O43813 LANC1_HUMAN lanthionine synthetase C-like protein 1 102 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding 0 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) GGTGATGGAGCGCTTGGTTAA 0.483 SPEG 10290 broad.mit.edu 37 2 220353257 220353257 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:220353257C>A uc010fwg.2 + 33 7896 c.7896C>A c.(7894-7896)ATC>ATA p.I2632I NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2632 Ig-like 9. 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) CAGTGATCATCGTGTCCTGCA 0.632 GIGYF2 26058 broad.mit.edu 37 2 233599885 233599885 + Translation_Start_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:233599885C>G uc002vti.3 + 5 315 c.-22C>G c.(-24--20)ATCTA>ATGTA GIGYF2_uc002vte.2_RNA|GIGYF2_uc002vtf.2_RNA|GIGYF2_uc010zmj.1_Translation_Start_Site|GIGYF2_uc002vtg.2_Translation_Start_Site|GIGYF2_uc002vtj.3_Translation_Start_Site|GIGYF2_uc002vtk.3_Translation_Start_Site|GIGYF2_uc002vth.3_Translation_Start_Site|GIGYF2_uc002vtl.2_RNA|GIGYF2_uc010zmk.1_RNA NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ATATAAAAATCTATTGTAAAA 0.353 UGT1A4 54657 broad.mit.edu 37 2 234627873 234627873 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:234627873C>T uc002vux.2 + 1 436 c.407C>T c.(406-408)GCC>GTC p.A136V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.A136V NM_007120 NP_009051 P22310 UD14_HUMAN UDP glycosyltransferase 1 family, polypeptide A4 136 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831) CATAATGAGGCCCTGATCAGG 0.458 IQCA1 79781 broad.mit.edu 37 2 237247012 237247012 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:237247012C>T uc002vvz.1 - 17 2152 c.1970G>A c.(1969-1971)CGC>CAC p.R657H IQCA1_uc002vwb.2_Missense_Mutation_p.R665H|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R616H NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 657 ATP binding ovary(1) 1 TTTTTTCAGGCGTTTAGGTTC 0.408 ASB1 51665 broad.mit.edu 37 2 239344628 239344628 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:239344628G>T uc002vyg.2 + 3 554 c.468G>T c.(466-468)CGG>CGT p.R156R NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box-containing protein 156 ANK 4. intracellular signal transduction|negative regulation of cytokine biosynthetic process 0 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) GCGTGGGCCGGGCAGACATCC 0.542 TGM6 343641 broad.mit.edu 37 20 2384321 2384321 + Silent SNP C C T rs145029765 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:2384321C>T uc002wfy.1 + 9 1249 c.1188C>T c.(1186-1188)AAC>AAT p.N396N TGM6_uc010gal.1_Silent_p.N396N NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 396 Calcium (By similarity). cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CGGAGGTCAACGCCGACTACA 0.617 SLC4A11 83959 broad.mit.edu 37 20 3211489 3211489 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:3211489C>T uc002wig.2 - 10 1267 c.1219G>A c.(1219-1221)GTG>ATG p.V407M SLC4A11_uc010zqe.1_Missense_Mutation_p.V434M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.V391M NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 407 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GTCTTCTGCACGTCTGTGGGG 0.711 ESF1 51575 broad.mit.edu 37 20 13763319 13763319 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:13763319C>A uc002woj.2 - 2 576 c.468G>T c.(466-468)AAG>AAT p.K156N ESF1_uc002wok.1_Missense_Mutation_p.K156N|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 156 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 CTTTGCTATCCTTCTTCGGAC 0.274 CBFA2T2 9139 broad.mit.edu 37 20 32224501 32224501 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:32224501T>C uc002wzg.1 + 10 1848 c.1311T>C c.(1309-1311)TTT>TTC p.F437F CBFA2T2_uc010zug.1_Silent_p.F211F|CBFA2T2_uc002wze.1_Silent_p.F428F|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.F408F|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_5'Flank NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 437 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 CTGTGGAGTTTTGGAAAAAAA 0.438 RALGAPB 57148 broad.mit.edu 37 20 37174983 37174983 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:37174983C>A uc002xiw.2 + 19 3069 c.2812C>A c.(2812-2814)CCA>ACA p.P938T RALGAPB_uc002xix.2_Missense_Mutation_p.P934T|RALGAPB_uc002xiy.1_Missense_Mutation_p.P938T|RALGAPB_uc002xiz.2_Missense_Mutation_p.P716T|RALGAPB_uc002xja.1_Missense_Mutation_p.P665T NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 938 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 CTCCAGGCTGCCAACCATAAA 0.443 PTPRT 11122 broad.mit.edu 37 20 40790084 40790084 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:40790084G>T uc002xkg.2 - 17 2774 c.2590C>A c.(2590-2592)CAG>AAG p.Q864K PTPRT_uc010ggj.2_Missense_Mutation_p.Q883K|PTPRT_uc010ggi.2_Missense_Mutation_p.Q67K NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 864 Cytoplasmic (Potential). 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) GGTTGGAACTGGTCCCGGGGG 0.612 CYP24A1 1591 broad.mit.edu 37 20 52774059 52774059 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:52774059C>T uc002xwv.2 - 10 1700 c.1302G>A c.(1300-1302)CAG>CAA p.Q434Q CYP24A1_uc002xwu.1_Silent_p.Q292Q|CYP24A1_uc002xww.2_Intron NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 434 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CAGGTCTAAACTGACTTGAAT 0.398 OPRL1 4987 broad.mit.edu 37 20 62724306 62724306 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr20:62724306G>T uc002yic.2 + 3 635 c.233G>T c.(232-234)AGG>ATG p.R78M OPRL1_uc002yid.2_Missense_Mutation_p.R78M|OPRL1_uc002yif.3_Intron NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 78 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GTCATCCTCAGGTAGGCTGGG 0.622 DOPEY2 9980 broad.mit.edu 37 21 37617880 37617880 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr21:37617880A>T uc002yvg.2 + 19 3681 c.3602A>T c.(3601-3603)GAG>GTG p.E1201V DOPEY2_uc011aeb.1_Missense_Mutation_p.E1150V|DOPEY2_uc002yvh.2_Missense_Mutation_p.E52V NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1201 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GCGGACTTGGAGCTCCAGGCC 0.617 PCNT 5116 broad.mit.edu 37 21 47786946 47786946 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr21:47786946G>A uc002zji.3 + 15 3164 c.3057G>A c.(3055-3057)CTG>CTA p.L1019L PCNT_uc002zjj.2_Silent_p.L901L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1019 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGGAGAAACTGAAGCGGAAAC 0.547 IL17RA 23765 broad.mit.edu 37 22 17577950 17577950 + Splice_Site SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr22:17577950A>T uc002zly.2 + 2 272 c.139_splice c.e2-2 p.G47_splice IL17RA_uc010gqt.2_Splice_Site_p.G47_splice NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) TTTTTTCCACAGGGGCTAAAC 0.463 APOL5 80831 broad.mit.edu 37 22 36123193 36123193 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr22:36123193A>G uc003aof.2 + 3 1078 c.1078A>G c.(1078-1080)AGC>GGC p.S360G NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 360 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 GACCTGTTCCAGCTCCCGGGG 0.587 CYTH4 27128 broad.mit.edu 37 22 37690712 37690712 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr22:37690712T>A uc003arf.2 + 3 230 c.114T>A c.(112-114)GAT>GAA p.D38E CYTH4_uc003ard.3_Missense_Mutation_p.D38E|CYTH4_uc003are.2_Missense_Mutation_p.D38E|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 38 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 AGCTGAAGGATGAGATTGCAG 0.607 MICALL1 85377 broad.mit.edu 37 22 38322052 38322052 + Splice_Site SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr22:38322052T>C uc003aui.2 + 8 1549 c.1465_splice c.e8+2 p.A489_splice NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) CCCCACTGGGTGAGTGCCTTT 0.627 PHF21B 112885 broad.mit.edu 37 22 45312274 45312274 + Silent SNP G G A rs115694109 byFrequency TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr22:45312274G>A uc003bfn.2 - 4 601 c.450C>T c.(448-450)TAC>TAT p.Y150Y PHF21B_uc003bfm.2_Translation_Start_Site|PHF21B_uc011aqk.1_Silent_p.Y138Y|PHF21B_uc011aql.1_Silent_p.Y150Y|PHF21B_uc011aqm.1_Silent_p.Y138Y NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 150 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) AGATGATGGCGTAGGCCACCC 0.692 LMCD1 29995 broad.mit.edu 37 3 8590314 8590314 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:8590314G>A uc003bqq.2 + 4 562 c.448G>A c.(448-450)GCC>ACC p.A150T LMCD1_uc011atd.1_Missense_Mutation_p.A77T|LMCD1_uc011ate.1_Missense_Mutation_p.A38T|LMCD1_uc011atf.1_Missense_Mutation_p.A77T NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 150 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) CACAGAGGGTGCCTTTTACCG 0.567 TTLL3 26140 broad.mit.edu 37 3 9859368 9859368 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:9859368G>C uc003btg.2 + 5 571 c.355G>C c.(355-357)GAT>CAT p.D119H ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.D119H|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.D55H|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.D55H|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 119 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) GCCGTGGTTTGATGAGGTTGA 0.562 IL17RE 132014 broad.mit.edu 37 3 9948410 9948410 + Silent SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:9948410T>A uc003btu.2 + 6 504 c.387T>A c.(385-387)CGT>CGA p.R129R CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Silent_p.R129R|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Silent_p.R129R|IL17RE_uc003btx.2_Silent_p.R13R|IL17RE_uc010hcq.2_Silent_p.R129R|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 129 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TGCCTCGTCGTCACCTGTCTG 0.418 GRIP2 80852 broad.mit.edu 37 3 14545116 14545116 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:14545116G>A uc011avi.1 - 22 2931 c.2931C>T c.(2929-2931)GAC>GAT p.D977D GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.D508D NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 879 synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 ATGACTCCAGGTCTTCGAGAG 0.622 TGFBR2 7048 broad.mit.edu 37 3 30713543 30713543 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:30713543G>A uc003ceo.2 + 4 1250 c.868G>A c.(868-870)GAG>AAG p.E290K TGFBR2_uc003cen.2_Missense_Mutation_p.E315K NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 290 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 TTGGAAGACAGAGAAGGACAT 0.483 ATXN7 6314 broad.mit.edu 37 3 63968005 63968005 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:63968005C>A uc003dlw.3 + 7 1449 c.896C>A c.(895-897)ACC>AAC p.T299N ATXN7_uc003dlv.2_Missense_Mutation_p.T299N|ATXN7_uc010hnv.2_Missense_Mutation_p.T299N|ATXN7_uc011bfn.1_Missense_Mutation_p.T154N NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 299 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CCAAAGCCAACCTTGCCTTCA 0.488 GPR128 84873 broad.mit.edu 37 3 100362456 100362456 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:100362456G>A uc003duc.2 + 8 1193 c.925G>A c.(925-927)GTC>ATC p.V309I GPR128_uc011bhc.1_Intron NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 309 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TGAGCTTCAGGTCTTGCTTAA 0.363 ARHGAP31 57514 broad.mit.edu 37 3 119133205 119133205 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:119133205C>G uc003ecj.3 + 12 2961 c.2429C>G c.(2428-2430)TCC>TGC p.S810C NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 810 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GAAGACTCATCCAGGAAATTG 0.562 COL6A6 131873 broad.mit.edu 37 3 130279257 130279257 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:130279257G>C uc010htl.2 + 1 80 c.49G>C c.(49-51)GTG>CTG p.V17L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 17 axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CCATATTTCTGTGAACCAAGA 0.279 CEP70 80321 broad.mit.edu 37 3 138248274 138248274 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:138248274T>G uc003esl.2 - 9 921 c.723A>C c.(721-723)GAA>GAC p.E241D CEP70_uc011bmk.1_Missense_Mutation_p.E221D|CEP70_uc011bml.1_Missense_Mutation_p.E223D|CEP70_uc011bmm.1_Missense_Mutation_p.E89D|CEP70_uc003esm.2_Missense_Mutation_p.E241D NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 241 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 CGTTTTCTTCTTCTGACTGAC 0.294 FOXL2 668 broad.mit.edu 37 3 138665218 138665218 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:138665218G>T uc003esw.2 - 1 765 c.347C>A c.(346-348)CCG>CAG p.P116Q uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank NM_023067 NP_075555 P58012 FOXL2_HUMAN forkhead box L2 116 Fork-head. convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding ovary(266)|large_intestine(1)|skin(1) 268 GCCCTCGCGCGGCACCTTGAT 0.607 Mis granulosa-cell tumour of the ovary Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III ATR 545 broad.mit.edu 37 3 142188342 142188342 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:142188342G>C uc003eux.3 - 38 6511 c.6389C>G c.(6388-6390)ACA>AGA p.T2130R ATR_uc003euy.1_Missense_Mutation_p.T16R NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2130 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TAAATAGTTTGTATGCTCTGT 0.348 Other_conserved_DNA_damage_response_genes AADACL2 344752 broad.mit.edu 37 3 151463297 151463297 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:151463297C>A uc003ezc.2 + 4 552 c.432C>A c.(430-432)GAC>GAA p.D144E AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 144 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTCTTTAAAGCTATAGGCTGG 0.343 USP13 8975 broad.mit.edu 37 3 179459996 179459996 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:179459996C>T uc003fkh.2 + 12 1473 c.1392C>T c.(1390-1392)ATC>ATT p.I464I USP13_uc003fkf.2_Silent_p.I464I NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 464 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GGAACCGCATCGGCTCAGAAA 0.448 VPS8 23355 broad.mit.edu 37 3 184573502 184573502 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:184573502G>T uc003fpb.1 + 13 1204 c.1033G>T c.(1033-1035)GAT>TAT p.D345Y VPS8_uc010hyd.1_Missense_Mutation_p.D345Y NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 347 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TACTTAGATGGATCCTTCCAG 0.348 ATP13A5 344905 broad.mit.edu 37 3 193031864 193031864 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:193031864G>A uc011bsq.1 - 19 2277 c.2277C>T c.(2275-2277)ACC>ACT p.T759T NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 759 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCAGCTGCCAGGTCACAGAGG 0.507 TNK2 10188 broad.mit.edu 37 3 195594114 195594114 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr3:195594114C>T uc003fvu.1 - 13 3451 c.2908G>A c.(2908-2910)GTG>ATG p.V970M TNK2_uc003fvq.1_Missense_Mutation_p.V379M|TNK2_uc003fvr.1_Missense_Mutation_p.V497M|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 970 UBA. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCTGTGGTCACCCCATGCACC 0.687 BOD1L 259282 broad.mit.edu 37 4 13606144 13606144 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:13606144T>A uc003gmz.1 - 10 2497 c.2380A>T c.(2380-2382)AGG>TGG p.R794W BOD1L_uc010idr.1_Missense_Mutation_p.R131W NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 794 Lys-rich. DNA binding ovary(5)|breast(1) 6 CTTTCATTCCTATGTTTACTT 0.299 GABRB1 2560 broad.mit.edu 37 4 47427764 47427764 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:47427764C>G uc003gxh.2 + 9 1528 c.1154C>G c.(1153-1155)ACG>AGG p.T385R GABRB1_uc011bze.1_Missense_Mutation_p.T315R NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 385 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAAGTGCTCACGAGCGTGAGC 0.622 UGT2B4 7363 broad.mit.edu 37 4 70346533 70346533 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:70346533C>T uc003hek.3 - 6 1453 c.1406G>A c.(1405-1407)CGC>CAC p.R469H UGT2B4_uc011cap.1_Missense_Mutation_p.R333H|UGT2B4_uc003hel.3_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 469 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TCCTTTATGGCGCATGACAAA 0.473 SULT1B1 27284 broad.mit.edu 37 4 70596360 70596360 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:70596360C>T uc003hen.2 - 7 935 c.637G>A c.(637-639)GAG>AAG p.E213K NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 213 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 AGGTTCTTCTCTAGAAATCTA 0.343 ARHGAP24 83478 broad.mit.edu 37 4 86491782 86491782 + Nonsense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:86491782G>T uc003hpk.2 + 2 537 c.88G>T c.(88-90)GGA>TGA p.G30* ARHGAP24_uc003hpi.1_Nonsense_Mutation_p.G30*|ARHGAP24_uc003hpj.2_Nonsense_Mutation_p.G30* NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 30 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GAGGAAGCAAGGAGGCTTTGT 0.502 HERC5 51191 broad.mit.edu 37 4 89385112 89385112 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:89385112G>A uc003hrt.2 + 6 1040 c.887G>A c.(886-888)AGA>AAA p.R296K NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 296 RCC1 4. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GTTGGGTATAGAGTGACTCAG 0.373 ADAD1 132612 broad.mit.edu 37 4 123336756 123336756 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:123336756G>T uc003ieo.2 + 11 1704 c.1472G>T c.(1471-1473)GGG>GTG p.G491V ADAD1_uc003iep.2_Missense_Mutation_p.G480V|ADAD1_uc003ieq.2_Missense_Mutation_p.G473V NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 491 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 GGCCTGAGTGGGAAGATCACT 0.348 INTU 27152 broad.mit.edu 37 4 128632186 128632186 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:128632186C>T uc003ifk.1 + 14 2558 c.2488C>T c.(2488-2490)CAG>TAG p.Q830* INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 830 ovary(1) 1 TATCCACCCTCAGCTAATAAA 0.428 HSPA4L 22824 broad.mit.edu 37 4 128725170 128725170 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:128725170C>G uc003ifm.2 + 8 1166 c.913C>G c.(913-915)CAA>GAA p.Q305E HSPA4L_uc010iny.1_Missense_Mutation_p.Q264E|HSPA4L_uc011cgr.1_Missense_Mutation_p.Q272E NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 305 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TCACAGGGCTCAATTTGAACA 0.348 INPP4B 8821 broad.mit.edu 37 4 143191883 143191883 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:143191883A>G uc003iix.3 - 11 1143 c.548T>C c.(547-549)GTC>GCC p.V183A INPP4B_uc003iiw.3_Missense_Mutation_p.V183A|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_5'UTR|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.V54A NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 183 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) CATCTTCACGACACTGACTTC 0.453 CDH18 1016 broad.mit.edu 37 5 19721493 19721493 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:19721493G>A uc003jgc.2 - 4 983 c.606C>T c.(604-606)CTC>CTT p.L202L CDH18_uc003jgd.2_Silent_p.L202L|CDH18_uc011cnm.1_Silent_p.L202L NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 202 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTTGTCCTTGGAGAATGCTGT 0.473 GOLPH3 64083 broad.mit.edu 37 5 32135789 32135789 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:32135789T>C uc003jhp.1 - 3 646 c.361A>G c.(361-363)ATC>GTC p.I121V NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 121 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding ovary(1) 1 GACTTACAGATTACCTAAAAA 0.358 PRLR 5618 broad.mit.edu 37 5 35086401 35086401 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:35086401A>G uc003jjm.2 - 4 642 c.112T>C c.(112-114)TCT>CCT p.S38P PRLR_uc003jjg.1_Missense_Mutation_p.S38P|PRLR_uc003jjh.1_Missense_Mutation_p.S38P|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.S38P|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 38 Fibronectin type-III 1.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTATTGGGAGAACGACATTTA 0.448 C5orf44 80006 broad.mit.edu 37 5 64946672 64946672 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:64946672G>C uc003jtz.3 + 6 794 c.464G>C c.(463-465)GGA>GCA p.G155A C5orf44_uc003jua.3_Missense_Mutation_p.G155A|C5orf44_uc003juc.3_Missense_Mutation_p.G155A|C5orf44_uc010iwv.2_Missense_Mutation_p.G155A NM_024941 NP_079217 A5PLN9 CE044_HUMAN hypothetical protein LOC80006 isoform 2 155 ovary(1) 1 ACTCAGGCTGGAGAAAAAATG 0.303 MAP1B 4131 broad.mit.edu 37 5 71495728 71495728 + Silent SNP C C T rs77733766 byFrequency TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:71495728C>T uc003kbw.3 + 5 6787 c.6546C>T c.(6544-6546)GAC>GAT p.D2182D MAP1B_uc010iyw.1_Silent_p.D2199D|MAP1B_uc010iyx.1_Silent_p.D2056D|MAP1B_uc010iyy.1_Silent_p.D2056D NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2182 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACTCTGAAGACGAGTCGGAAA 0.597 FER 2241 broad.mit.edu 37 5 108521949 108521949 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:108521949G>C uc003kop.1 + 19 2636 c.2252G>C c.(2251-2253)TGG>TCG p.W751S FER_uc011cvg.1_Missense_Mutation_p.W576S NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 751 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ATCCTTCTCTGGGAGACCTTC 0.473 PDLIM4 8572 broad.mit.edu 37 5 131607543 131607543 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:131607543G>C uc003kwn.2 + 6 807 c.730G>C c.(730-732)GCT>CCT p.A244P uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Missense_Mutation_p.A352P NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 244 protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAAGCTGGGCGCTCCGCTGAG 0.726 CTNNA1 1495 broad.mit.edu 37 5 138269667 138269667 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:138269667G>A uc003ldh.2 + 18 2705 c.2610G>A c.(2608-2610)GTG>GTA p.V870V CTNNA1_uc011cyx.1_Silent_p.V767V|CTNNA1_uc011cyy.1_Silent_p.V747V|CTNNA1_uc003ldi.2_Silent_p.V568V|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Silent_p.V500V NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 870 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCCATTGGTGAAGAGAGAGA 0.502 CTNNA1 1495 broad.mit.edu 37 5 138269676 138269676 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:138269676G>C uc003ldh.2 + 18 2714 c.2619G>C c.(2617-2619)GAG>GAC p.E873D CTNNA1_uc011cyx.1_Missense_Mutation_p.E770D|CTNNA1_uc011cyy.1_Missense_Mutation_p.E750D|CTNNA1_uc003ldi.2_Missense_Mutation_p.E571D|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.E503D NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 873 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGAAGAGAGAGAAACAGGATG 0.493 PCDHGA2 56113 broad.mit.edu 37 5 140719889 140719889 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:140719889G>A uc003ljk.1 + 1 1536 c.1351G>A c.(1351-1353)GCC>ACC p.A451T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A451T NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGCACCCGCCTTCTCCCG 0.552 SH3RF2 153769 broad.mit.edu 37 5 145439568 145439568 + Silent SNP C C T rs142262740 by1000genomes TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:145439568C>T uc003lnt.2 + 9 1933 c.1695C>T c.(1693-1695)GCC>GCT p.A565A SH3RF2_uc011dbl.1_Silent_p.A565A|SH3RF2_uc011dbm.1_Silent_p.A50A|SH3RF2_uc003lnu.2_Silent_p.A56A|SH3RF2_uc011dbn.1_Silent_p.A56A|SH3RF2_uc011dbo.1_Silent_p.A22A NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 565 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCCTCAGCCGTGGTGGTGG 0.672 CSNK1A1 1452 broad.mit.edu 37 5 148885058 148885058 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:148885058G>C uc003lqx.1 - 9 1438 c.958C>G c.(958-960)CAA>GAA p.Q320E CSNK1A1_uc011dcb.1_Missense_Mutation_p.Q229E|CSNK1A1_uc011dcc.1_Missense_Mutation_p.Q259E|CSNK1A1_uc003lqv.1_Missense_Mutation_p.Q231E|CSNK1A1_uc003lqw.1_Missense_Mutation_p.Q348E|CSNK1A1_uc003lqy.1_Missense_Mutation_p.Q320E|CSNK1A1_uc010jha.1_Missense_Mutation_p.Q320E NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 320 cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GTGGGGGTTTGGGCCTGCTGA 0.453 NUDCD2 134492 broad.mit.edu 37 5 162880981 162880981 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:162880981C>G uc003lze.2 - 4 553 c.466G>C c.(466-468)GAG>CAG p.E156Q NM_145266 NP_660309 Q8WVJ2 NUDC2_HUMAN NudC domain containing 2 156 intracellular 0 Renal(175;0.000281) Medulloblastoma(196;0.0207)|all_neural(177;0.0966) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247) AGTTATTTCTCAAGGTTTGAG 0.358 TMED9 54732 broad.mit.edu 37 5 177022391 177022391 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:177022391T>G uc003mhx.2 + 5 685 c.682T>G c.(682-684)TTC>GTC p.F228V TMED9_uc010jko.2_RNA NM_017510 NP_059980 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain 228 Cytoplasmic (Potential). transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) CCTCAAGAGCTTCTTTGAAGC 0.582 ATXN1 6310 broad.mit.edu 37 6 16326666 16326666 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:16326666C>T uc003nbt.2 - 8 2847 c.1876G>A c.(1876-1878)GTG>ATG p.V626M ATXN1_uc010jpi.2_Missense_Mutation_p.V626M|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 626 Interaction with USP7.|RNA-binding.|AXH. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ATCACGGCCACGCCCGGGCTA 0.552 SCAND3 114821 broad.mit.edu 37 6 28543077 28543077 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:28543077T>A uc003nlo.2 - 3 2023 c.1405A>T c.(1405-1407)AGC>TGC p.S469C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 469 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAACTCTGGCTTTGGCAGGTC 0.423 ABCF1 23 broad.mit.edu 37 6 30554043 30554043 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:30554043G>C uc003nql.2 + 18 1941 c.1846G>C c.(1846-1848)GAC>CAC p.D616H ABCF1_uc003nqm.2_Missense_Mutation_p.D578H|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 616 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 CACTTTTCCAGACCCCCCACC 0.597 DOM3Z 1797 broad.mit.edu 37 6 31938570 31938570 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:31938570C>T uc003nyo.1 - 3 1159 c.625G>A c.(625-627)GAG>AAG p.E209K DOM3Z_uc003nyp.1_Missense_Mutation_p.E209K|DOM3Z_uc003nyq.1_Intron|DOM3Z_uc003nyr.1_Missense_Mutation_p.E209K|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN DOM-3 homolog Z 209 identical protein binding|metal ion binding|nucleotide binding 0 GTGTTAACCTCCCCAGAGGGG 0.622 BRPF3 27154 broad.mit.edu 37 6 36181868 36181868 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:36181868G>C uc003olv.3 + 8 2918 c.2694G>C c.(2692-2694)TTG>TTC p.L898F BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 898 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 TGCAACGCTTGCTCAGTGACA 0.542 C6orf89 221477 broad.mit.edu 37 6 36882162 36882162 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:36882162T>A uc003omx.2 + 5 790 c.506T>A c.(505-507)CTG>CAG p.L169Q C6orf89_uc003omv.2_Missense_Mutation_p.L63Q|C6orf89_uc003omw.2_Missense_Mutation_p.L176Q|C6orf89_uc011dtr.1_Missense_Mutation_p.L63Q|C6orf89_uc003omy.2_Missense_Mutation_p.L3Q NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 169 integral to membrane ovary(1) 1 GTGATGCTCCTGGAAGACGCC 0.542 RNF8 9025 broad.mit.edu 37 6 37336407 37336407 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:37336407G>C uc003onq.3 + 3 581 c.388G>C c.(388-390)GAG>CAG p.E130Q RNF8_uc003onr.3_Missense_Mutation_p.E130Q|RNF8_uc011dtx.1_Missense_Mutation_p.E62Q NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 130 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 AGAAGACTGGGAGACAATATA 0.378 CD2AP 23607 broad.mit.edu 37 6 47575752 47575752 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:47575752C>G uc003oyw.2 + 15 2076 c.1620C>G c.(1618-1620)TGC>TGG p.C540W NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 540 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AAGATACATGCTACTCTCCAA 0.393 ANKRD6 22881 broad.mit.edu 37 6 90333683 90333683 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:90333683C>T uc003pni.3 + 12 1466 c.1125C>T c.(1123-1125)AAC>AAT p.N375N ANKRD6_uc003pne.3_Silent_p.N375N|ANKRD6_uc003pnf.3_Silent_p.N340N|ANKRD6_uc011dzy.1_Silent_p.N375N|ANKRD6_uc010kcd.2_Silent_p.N316N|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 375 protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) AAAAGAGGAACAGGCATCGGT 0.542 SLC35F1 222553 broad.mit.edu 37 6 118556701 118556701 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:118556701C>T uc003pxx.3 + 3 580 c.379C>T c.(379-381)CGA>TGA p.R127* NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 127 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) AATTTTACGACGAAGATGGTG 0.388 SAMD3 154075 broad.mit.edu 37 6 130465893 130465893 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:130465893G>C uc003qbv.2 - 13 1661 c.1335C>G c.(1333-1335)TGC>TGG p.C445W SAMD3_uc003qbx.2_Missense_Mutation_p.C445W|SAMD3_uc003qbw.2_Missense_Mutation_p.C445W NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 445 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AAGAAAATTCGCAGACCTCCA 0.423 TNFAIP3 7128 broad.mit.edu 37 6 138192409 138192409 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:138192409G>T uc003qhr.2 + 2 111 c.45G>T c.(43-45)ATG>ATT p.M15I TNFAIP3_uc003qhs.2_Missense_Mutation_p.M15I NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 15 anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TGAGCAATATGCGGAAAGCTG 0.403 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma OREG0031869 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) UTRN 7402 broad.mit.edu 37 6 144749929 144749929 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:144749929C>A uc003qkt.2 + 7 686 c.594C>A c.(592-594)AGC>AGA p.S198R UTRN_uc010khq.1_Missense_Mutation_p.S198R NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 198 CH 2.|Actin-binding. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATCTCTTCAGCTGGGATAAAG 0.348 UTRN 7402 broad.mit.edu 37 6 144749936 144749936 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:144749936A>G uc003qkt.2 + 7 693 c.601A>G c.(601-603)AAA>GAA p.K201E UTRN_uc010khq.1_Missense_Mutation_p.K201E NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 201 CH 2.|Actin-binding. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGCTGGGATAAAGTTGTCAA 0.353 AKAP12 9590 broad.mit.edu 37 6 151670624 151670624 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:151670624C>T uc011eep.1 + 4 1338 c.1098C>T c.(1096-1098)CAC>CAT p.H366H AKAP12_uc003qoe.2_Silent_p.H366H|AKAP12_uc003qof.2_Silent_p.H268H|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.H261H NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 366 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AAAGTGCCCACGAGCCCCGGT 0.562 MAS1 4142 broad.mit.edu 37 6 160328818 160328818 + Silent SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:160328818T>A uc003qsz.2 + 1 845 c.831T>A c.(829-831)CCT>CCA p.P277P NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 277 Helical; Name=7; (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) GCGCCAACCCTTTCATTTACT 0.448 T 6862 broad.mit.edu 37 6 166580155 166580155 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:166580155G>T uc003quu.1 - 3 889 c.396C>A c.(394-396)TTC>TTA p.F132L T_uc003qut.1_Missense_Mutation_p.F132L|T_uc003quv.1_Missense_Mutation_p.F132L NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 132 T-box. anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) AGTGGGCCCCGAAGTTGGGCG 0.657 Chordoma_Familial_Clustering_of GPNMB 10457 broad.mit.edu 37 7 23309691 23309691 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:23309691G>C uc003swc.2 + 9 1523 c.1362G>C c.(1360-1362)GTG>GTC p.V454V GPNMB_uc003swb.2_Silent_p.V442V|GPNMB_uc011jyy.1_Silent_p.V396V|GPNMB_uc011jyz.1_Silent_p.V343V NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 454 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TGCTGACTGTGAGACGAACCT 0.552 NOD1 10392 broad.mit.edu 37 7 30491602 30491602 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:30491602G>C uc003tav.2 - 6 1954 c.1431C>G c.(1429-1431)GTC>GTG p.V477V NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 477 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CCTGGGTGAAGACAAAGAGGC 0.692 SFRP4 6424 broad.mit.edu 37 7 37947099 37947099 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:37947099T>C uc003tfo.3 - 6 1409 c.1023A>G c.(1021-1023)ACA>ACG p.T341T NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 341 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 TTTTCGGGTTTGTTCTCTTCT 0.512 INHBA 3624 broad.mit.edu 37 7 41729775 41729775 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:41729775C>T uc003thq.2 - 2 989 c.754G>A c.(754-756)GCC>ACC p.A252T INHBA_uc003thr.2_Missense_Mutation_p.A252T NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 252 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 ACCAAGCTGGCGCCACTCTCC 0.378 TSP Lung(11;0.080) AUTS2 26053 broad.mit.edu 37 7 70227930 70227930 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:70227930G>T uc003tvw.3 + 7 1560 c.817G>T c.(817-819)GGT>TGT p.G273C AUTS2_uc003tvx.3_Missense_Mutation_p.G273C NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 273 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CAAGATATCGGGTCTAGAGAG 0.537 AUTS2 26053 broad.mit.edu 37 7 70228154 70228154 + Missense_Mutation SNP G G T rs151096425 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:70228154G>T uc003tvw.3 + 7 1784 c.1041G>T c.(1039-1041)GAG>GAT p.E347D AUTS2_uc003tvx.3_Missense_Mutation_p.E347D NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 347 p.E347K(1) ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCCCTCCTGAGGCCCAGCTCC 0.677 RUNDC3B 154661 broad.mit.edu 37 7 87436707 87436707 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:87436707G>A uc003ujb.2 + 10 1438 c.1027G>A c.(1027-1029)GAT>AAT p.D343N RUNDC3B_uc011khd.1_Missense_Mutation_p.D326N|RUNDC3B_uc011khe.1_Missense_Mutation_p.D326N|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 343 skin(1) 1 Esophageal squamous(14;0.00164) AAAGAATAATGATTTAAGATC 0.433 CYP51A1 1595 broad.mit.edu 37 7 91752481 91752481 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:91752481G>A uc003ulm.3 - 7 1201 c.1039C>T c.(1039-1041)CAG>TAG p.Q347* CYP51A1_uc011khn.1_Nonsense_Mutation_p.Q242*|CYP51A1_uc003uln.3_Nonsense_Mutation_p.Q284* NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 341 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) ACTGTTTTCTGTTCTAAATAA 0.403 TECPR1 25851 broad.mit.edu 37 7 97863002 97863002 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:97863002C>G uc003upg.2 - 11 1608 c.1403G>C c.(1402-1404)AGG>ACG p.R468T TECPR1_uc003uph.1_Missense_Mutation_p.R398T NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 468 integral to membrane protein binding pancreas(1) 1 TCTGGCCTCCCTGCTGCCCTC 0.662 GAL3ST4 79690 broad.mit.edu 37 7 99757827 99757827 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:99757827C>T uc003utt.2 - 3 2202 c.1185G>A c.(1183-1185)GAG>GAA p.E395E C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Silent_p.E395E|GAL3ST4_uc010lgq.2_Silent_p.E333E NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 395 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGCCCGGAGCTCGGCCACAG 0.607 PTN 5764 broad.mit.edu 37 7 136939673 136939673 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:136939673G>T uc003vtq.2 - 2 411 c.48C>A c.(46-48)GCC>GCA p.A16A PTN_uc010lmx.2_Silent_p.A16A|PTN_uc003vtr.1_Silent_p.A16A NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 16 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity upper_aerodigestive_tract(1)|pancreas(1) 2 ATGCCAAGAAGGCAGCTGCAA 0.463 TAS2R38 5726 broad.mit.edu 37 7 141673474 141673474 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:141673474G>C uc003vwx.1 - 1 100 c.16C>G c.(16-18)CGC>GGC p.R6G NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 6 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) GTGCGGATGCGAGTTAGAGTC 0.448 REPIN1 29803 broad.mit.edu 37 7 150068727 150068727 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:150068727C>T uc010lpq.1 + 4 886 c.397C>T c.(397-399)CTG>TTG p.L133L REPIN1_uc003whd.2_Silent_p.L122L|REPIN1_uc010lpr.1_Silent_p.L190L|REPIN1_uc003whc.2_Silent_p.L133L|REPIN1_uc003whe.2_Silent_p.L133L NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 133 C2H2-type 3. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GGCCCTGGTTCTGCATCTGCG 0.637 GALNTL5 168391 broad.mit.edu 37 7 151711795 151711795 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:151711795C>A uc003wkp.2 + 8 1316 c.1093C>A c.(1093-1095)CAA>AAA p.Q365K GALNTL5_uc003wkq.2_Missense_Mutation_p.Q116K|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.Q254K NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 365 Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CAGTAAGAAACAAACTGGAAA 0.418 MLL3 58508 broad.mit.edu 37 7 151845953 151845953 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr7:151845953T>G uc003wla.2 - 52 13278 c.13059A>C c.(13057-13059)AGA>AGC p.R4353S MLL3_uc003wkz.2_Missense_Mutation_p.R3471S|MLL3_uc003wkx.2_Missense_Mutation_p.R511S|MLL3_uc003wky.2_Missense_Mutation_p.R1917S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4353 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTTCATTCCTCTCCATTTTT 0.433 N medulloblastoma FAM86B1 85002 broad.mit.edu 37 8 12043996 12043996 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:12043996G>C uc010lse.2 - 5 550 c.505C>G c.(505-507)CTC>GTC p.L169V FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_Intron|FAM86B1_uc003wvi.3_Intron|FAM86B1_uc010lsd.2_Intron|FAM86B1_uc003wvh.3_Intron|FAM86B1_uc011kxq.1_Intron|FAM86B1_uc010lsf.2_Intron|FAM86B1_uc003wvj.3_Missense_Mutation_p.L103V|FAM86B1_uc003wvk.3_Missense_Mutation_p.L203V|FAM86B1_uc010lsg.2_Intron|FAM86B1_uc003wvl.3_Intron NM_001083537 NP_001077006 Q8N7N1 F86B1_HUMAN hypothetical protein LOC85002 169 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) AGGCCATTGAGAAGGACATTC 0.597 POLB 5423 broad.mit.edu 37 8 42202482 42202482 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:42202482C>G uc003xoz.1 + 3 244 c.131C>G c.(130-132)TCT>TGT p.S44C POLB_uc003xpa.1_Missense_Mutation_p.S44C|POLB_uc011lcs.1_Translation_Start_Site NM_002690 NP_002681 P06746 DPOLB_HUMAN DNA-directed DNA polymerase beta 44 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding ovary(1)|breast(1) 2 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) AAAGCAGCATCTGTTATAGCA 0.338 DNA_polymerases_(catalytic_subunits) ST18 9705 broad.mit.edu 37 8 53062442 53062442 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:53062442G>T uc003xqz.2 - 11 2058 c.1902C>A c.(1900-1902)AAC>AAA p.N634K ST18_uc011ldq.1_Missense_Mutation_p.N281K|ST18_uc011ldr.1_Missense_Mutation_p.N599K|ST18_uc011lds.1_Missense_Mutation_p.N539K|ST18_uc003xra.2_Missense_Mutation_p.N634K|ST18_uc003xrb.2_Missense_Mutation_p.N634K NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 634 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GAATAGAAGTGTTAGAGGAAG 0.453 RRS1 23212 broad.mit.edu 37 8 67342340 67342340 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:67342340G>C uc003xwa.2 + 1 1078 c.974G>C c.(973-975)GGG>GCG p.G325A ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 325 Arg/Gly/Lys-rich. mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AAGAGGAAAGGGGGCCCGCCC 0.642 STK3 6788 broad.mit.edu 37 8 99761538 99761538 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:99761538G>A uc003yip.2 - 4 458 c.317C>T c.(316-318)TCT>TTT p.S106F STK3_uc003yio.2_Missense_Mutation_p.S134F|STK3_uc010mbm.1_Missense_Mutation_p.S106F NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 106 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) GTCTGAGACAGAGCCAGCGCC 0.318 ZHX2 22882 broad.mit.edu 37 8 123966231 123966231 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:123966231C>T uc003ypk.1 + 3 3048 c.2481C>T c.(2479-2481)TCC>TCT p.S827S NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 827 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AATCAGACTCCGACTGCGTCC 0.587 FAM83A 84985 broad.mit.edu 37 8 124219604 124219604 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:124219604T>G uc003ypv.2 + 5 2995 c.981T>G c.(979-981)AGT>AGG p.S327R FAM83A_uc003ypw.2_Missense_Mutation_p.S327R|FAM83A_uc003ypy.2_Missense_Mutation_p.S271R|FAM83A_uc003ypx.2_Missense_Mutation_p.S327R|FAM83A_uc003ypz.2_Missense_Mutation_p.S327R NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 327 Ser-rich. ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCTCCGCCAGTGACCGCACGT 0.731 ATAD2 29028 broad.mit.edu 37 8 124359446 124359446 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:124359446C>T uc003yqh.3 - 16 2206 c.2098G>A c.(2098-2100)GCA>ACA p.A700T ATAD2_uc011lii.1_Missense_Mutation_p.A491T|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A700T NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTGGACAGTGCCTGCCCAGGT 0.438 TG 7038 broad.mit.edu 37 8 133980211 133980211 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:133980211G>T uc003ytw.2 + 31 5900 c.5859G>T c.(5857-5859)AAG>AAT p.K1953N TG_uc010mdw.2_Missense_Mutation_p.K712N|TG_uc011ljb.1_Missense_Mutation_p.K322N|TG_uc011ljc.1_Missense_Mutation_p.K107N|TG_uc010mdx.1_RNA NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1953 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) TGTTCCGGAAGAAAGGTGAGC 0.473 ZC3H3 23144 broad.mit.edu 37 8 144620387 144620387 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:144620387G>A uc003yyd.2 - 2 1179 c.1150C>T c.(1150-1152)CCC>TCC p.P384S NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 384 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GAGGCAGAGGGGCTGGAGGCC 0.657 CDC37L1 55664 broad.mit.edu 37 9 4697116 4697116 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:4697116G>C uc003zio.2 + 4 739 c.529G>C c.(529-531)GAT>CAT p.D177H NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN cell division cycle 37 homolog (S. 177 Self-association and interaction with Hsp90. cytoplasm 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) TCGATGGGATGATAGCCAGAG 0.343 RANBP6 26953 broad.mit.edu 37 9 6013104 6013104 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:6013104G>C uc003zjr.2 - 1 2515 c.2504C>G c.(2503-2505)TCT>TGT p.S835C RANBP6_uc011lmf.1_Missense_Mutation_p.S483C|RANBP6_uc003zjs.2_Missense_Mutation_p.S423C NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 835 Potential. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTGCAGAGACATCTCAAC 0.348 SH3GL2 6456 broad.mit.edu 37 9 17795579 17795579 + Silent SNP C C T rs143422821 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:17795579C>T uc003zna.2 + 9 1185 c.897C>T c.(895-897)TAC>TAT p.Y299Y SH3GL2_uc011lmy.1_Silent_p.Y252Y NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 299 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GAGCTCTGTACGACTTTGAAC 0.463 GRIN3A 116443 broad.mit.edu 37 9 104433073 104433073 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:104433073G>T uc004bbp.1 - 3 2222 c.1621C>A c.(1621-1623)CAA>AAA p.Q541K GRIN3A_uc004bbq.1_Missense_Mutation_p.Q541K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 541 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGACAGAGTTGGCCAGCAGGG 0.458 PTGR1 22949 broad.mit.edu 37 9 114348359 114348359 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:114348359C>G uc004bfh.2 - 5 399 c.296G>C c.(295-297)GGG>GCG p.G99A PTGR1_uc011lwr.1_Missense_Mutation_p.G99A|PTGR1_uc004bfi.3_Missense_Mutation_p.G99A|PTGR1_uc004bfj.3_5'UTR|PTGR1_uc010mue.2_Missense_Mutation_p.G99A NM_012212 NP_036344 Q14914 PTGR1_HUMAN prostaglandin reductase 1 isoform 1 99 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding 0 CAGATCTTTCCCATCAGAAAT 0.463 PHF19 26147 broad.mit.edu 37 9 123620386 123620386 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:123620386C>T uc004bks.1 - 15 1832 c.1579G>A c.(1579-1581)GAA>AAA p.E527K PHF19_uc011lyf.1_Missense_Mutation_p.E318K|PHF19_uc004bkr.2_RNA NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 GAGTCATCTTCACTGATGCTC 0.587 PHF19 26147 broad.mit.edu 37 9 123620439 123620439 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:123620439A>T uc004bks.1 - 15 1779 c.1526T>A c.(1525-1527)GTC>GAC p.V509D PHF19_uc011lyf.1_Missense_Mutation_p.V300D|PHF19_uc004bkr.2_RNA NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 CCGCTCGGGGACTGAAGCCCC 0.592 LHX2 9355 broad.mit.edu 37 9 126794769 126794769 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:126794769A>T uc004boe.1 + 5 1743 c.1004A>T c.(1003-1005)AAG>ATG p.K335M LHX2_uc010mwi.1_Missense_Mutation_p.K343M NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 335 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGCGTGGACAAGTCGACAGAC 0.672 MAPKAP1 79109 broad.mit.edu 37 9 128246724 128246724 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:128246724A>G uc004bpv.2 - 9 1538 c.1205T>C c.(1204-1206)CTA>CCA p.L402P MAPKAP1_uc011lzt.1_Missense_Mutation_p.L205P|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.L205P|MAPKAP1_uc011lzv.1_Missense_Mutation_p.L110P|MAPKAP1_uc004bpw.2_Missense_Mutation_p.L210P|MAPKAP1_uc004bpx.2_Missense_Mutation_p.L210P|MAPKAP1_uc004bpy.2_Missense_Mutation_p.L366P|MAPKAP1_uc004bpz.2_Intron|MAPKAP1_uc010mxa.2_RNA NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 402 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 ACACTTACCTAGCTGTACGTC 0.448 CERCAM 51148 broad.mit.edu 37 9 131186865 131186865 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:131186865C>A uc004buz.3 + 5 1136 c.738C>A c.(736-738)ATC>ATA p.I246I CERCAM_uc004buy.1_Silent_p.I168I|CERCAM_uc010mxz.2_Silent_p.I168I|CERCAM_uc010mya.1_Silent_p.I87I NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 246 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 ACGACATCATCGTCTTCGCCT 0.473 GTF3C5 9328 broad.mit.edu 37 9 135932246 135932246 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:135932246G>A uc004cci.3 + 10 1681 c.1344G>A c.(1342-1344)AGG>AGA p.R448R GTF3C5_uc004ccj.3_Silent_p.R455R NM_012087 NP_036219 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5 448 transcription factor TFIIIC complex DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) ACGAGCTCAGGGACACCATGT 0.597 FCN2 2220 broad.mit.edu 37 9 137778399 137778399 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:137778399A>T uc004cfg.1 + 7 693 c.683A>T c.(682-684)GAG>GTG p.E228V FCN2_uc004cfh.1_Missense_Mutation_p.E190V NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 228 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GCCTTCGTGGAGGGCAGTGCG 0.557 CAMSAP1 157922 broad.mit.edu 37 9 138712788 138712788 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:138712788T>G uc004cgr.3 - 11 3719 c.3719A>C c.(3718-3720)GAC>GCC p.D1240A CAMSAP1_uc004cgq.3_Missense_Mutation_p.D1130A|CAMSAP1_uc010nbg.2_Missense_Mutation_p.D962A NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1240 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GGCCTTCAGGTCGGAGAGGTC 0.642 UBAC1 10422 broad.mit.edu 37 9 138825266 138825266 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:138825266G>A uc004cgt.2 - 10 1416 c.1198C>T c.(1198-1200)CAG>TAG p.Q400* UBAC1_uc004cgs.1_Intron|UBAC1_uc004cgu.2_RNA NM_016172 NP_057256 Q9BSL1 UBAC1_HUMAN ubiquitin associated domain containing 1 400 Golgi apparatus|plasma membrane protein binding skin(2) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) TTTAGTGTCTGGAAGATTCTA 0.572 MAN1B1 11253 broad.mit.edu 37 9 139995507 139995507 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:139995507G>T uc004cld.2 + 7 1002 c.967G>T c.(967-969)GAC>TAC p.D323Y MAN1B1_uc004clc.2_Missense_Mutation_p.D224Y|MAN1B1_uc011meo.1_Missense_Mutation_p.D224Y|MAN1B1_uc011mep.1_Missense_Mutation_p.D323Y|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_5'Flank NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 323 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CTTTGAAAAGGACGTGGACGT 0.512 PNPLA7 375775 broad.mit.edu 37 9 140435144 140435144 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr9:140435144G>A uc004cnf.2 - 7 959 c.622C>T c.(622-624)CTG>TTG p.L208L PNPLA7_uc010ncj.1_Silent_p.L233L NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 208 cNMP 1. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TCTCCCGCCAGAACCTCTTTC 0.701 FAM9B 171483 broad.mit.edu 37 X 8995918 8995918 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:8995918T>C uc011mhu.1 - 6 572 c.483A>G c.(481-483)CAA>CAG p.Q161Q FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Silent_p.Q201Q NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 161 nucleus 0 Hepatocellular(5;0.219) CCTTTACGAATTGGTCACGTA 0.363 ARHGAP6 395 broad.mit.edu 37 X 11162130 11162130 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:11162130C>T uc004cup.1 - 11 3019 c.2146G>A c.(2146-2148)GAA>AAA p.E716K ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.E716K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E513K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E536K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E538K|ARHGAP6_uc011mif.1_3'UTR NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 716 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 GGAGAACTTTCCCTTGACTTT 0.592 OREG0019666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IL1RAPL1 11141 broad.mit.edu 37 X 29301315 29301315 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:29301315C>T uc004dby.2 + 3 851 c.343C>T c.(343-345)CTC>TTC p.L115F NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 115 Ig-like C2-type 1.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GGACAGTGGTCTCTACGCCTG 0.438 WDR13 64743 broad.mit.edu 37 X 48460231 48460231 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:48460231G>A uc004dkh.1 + 7 1038 c.891G>A c.(889-891)AAG>AAA p.K297K WDR13_uc010nif.1_Silent_p.K175K|WDR13_uc004dki.1_Silent_p.K205K|WDR13_uc004dkj.1_Silent_p.K297K|WDR13_uc004dkk.1_Silent_p.K205K|WDR13_uc004dkl.3_Silent_p.K205K NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 297 cytoplasm|nucleus ovary(2) 2 AGAAAGTGAAGGGGGGCTCCA 0.582 GATA1 2623 broad.mit.edu 37 X 48651642 48651642 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:48651642C>T uc004dkq.3 + 5 899 c.808C>T c.(808-810)CGG>TGG p.R270W NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 270 GATA-type 2. basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GACACTGTGGCGGAGAAATGC 0.602 Mis|F megakaryoblastic leukemia of Downs Syndrome PGK1 5230 broad.mit.edu 37 X 77378856 77378856 + Silent SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:77378856A>T uc004ecz.3 + 8 1093 c.921A>T c.(919-921)ATA>ATT p.I307I PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.I279I NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 307 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 CTTCTGGCATACCTGCTGGCT 0.463 CYLC1 1538 broad.mit.edu 37 X 83129174 83129174 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:83129174G>A uc004eei.1 + 4 1479 c.1458G>A c.(1456-1458)ATG>ATA p.M486I CYLC1_uc004eeh.1_Missense_Mutation_p.M485I NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 486 6. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 CTACTGAAATGGAATCTGATT 0.338 ZNF711 7552 broad.mit.edu 37 X 84526498 84526498 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:84526498G>C uc004eeo.2 + 9 2297 c.1950G>C c.(1948-1950)AGG>AGC p.R650S ZNF711_uc004eep.2_Missense_Mutation_p.R650S|ZNF711_uc004eeq.2_Missense_Mutation_p.R696S|ZNF711_uc011mqy.1_Missense_Mutation_p.R249S NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 650 C2H2-type 9. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 ATCAGTGCAGGCACTGTGACT 0.393 AFF2 2334 broad.mit.edu 37 X 148037909 148037909 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chrX:148037909T>A uc004fcp.2 + 11 2813 c.2334T>A c.(2332-2334)TTT>TTA p.F778L AFF2_uc004fcq.2_Missense_Mutation_p.F768L|AFF2_uc004fcr.2_Missense_Mutation_p.F739L|AFF2_uc011mxb.1_Missense_Mutation_p.F743L|AFF2_uc004fcs.2_Missense_Mutation_p.F745L|AFF2_uc011mxc.1_Missense_Mutation_p.F419L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 778 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGCCAACATTTTCACCTATTC 0.453 HDLBP 3069 broad.mit.edu 37 2 242186472 242186473 + Splice_Site INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:242186471_242186472C>CT uc002waz.3 - 15 1991 c.1818_splice c.e15+1 p.K606_splice HDLBP_uc002wba.3_Splice_Site_p.K606_splice|HDLBP_uc021vzg.1_Splice_Site_p.K573_splice NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 606 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AAGTTATCACCTTTTTAATGTT 0.401 HEATR7B2 133558 broad.mit.edu 37 5 41033143 41033144 + Splice_Site INS - - CAAT TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:41033142_41033143C>CCAAT uc003jmj.4 - 23 2851 c.2361_splice c.e23+1 p.L787_splice HEATR7B2_uc003jmi.4_Splice_Site_p.L342_splice NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 787 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TGCACACTCACCAGCATGTAAC 0.446 RCN1 5954 broad.mit.edu 37 11 32124954 32124972 + Frame_Shift_Del DEL GATCCTCCCTCAAGATTAT GATCCTCCCTCAAGATTAT - rs139483311 byFrequency TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr11:32124954_32124972delGATCCTCCCTCAAGATTAT uc010reb.1 + 5 1082_1100 c.816_834delGATCCTCCCTCAAGATTAT c.(814-834)TGGATCCTCCCTCAAGATTATfs p.W272fs RCN1_uc010rea.1_Frame_Shift_Del_p.W221fs|RCN1_uc001mtk.2_Frame_Shift_Del_p.W106fs NM_002901 NP_002892 Q15293 RCN1_HUMAN reticulocalbin 1 precursor 272_278 EF-hand 5. endoplasmic reticulum lumen calcium ion binding large_intestine(1) 1 Lung SC(675;0.225) TTCGCCACTGGATCCTCCCTCAAGATTATGATCATGCAC 0.461 RNF43 54894 broad.mit.edu 37 17 56440698 56440720 + Frame_Shift_Del DEL CCATCAGCTTCTCAGCGTCATTA CCATCAGCTTCTCAGCGTCATTA - rs145164323 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:56440698_56440720delCCATCAGCTTCTCAGCGTCATTA uc002iwf.2 - 4 2454_2476 c.498_520delTAATGACGCTGAGAAGCTGATGG c.(496-522)GGTAATGACGCTGAGAAGCTGATGGAGfs p.G166fs RNF43_uc010wnv.1_Frame_Shift_Del_p.G125fs|RNF43_uc002iwh.3_Frame_Shift_Del_p.G166fs|RNF43_uc002iwg.3_Frame_Shift_Del_p.G166fs|RNF43_uc010dcw.2_Frame_Shift_Del_p.G39fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 166_174 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACACAAACTCCATCAGCTTCTCAGCGTCATTACCCCAGATCA 0.583 MYT1L 23040 broad.mit.edu 37 2 1926074 1926075 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:1926074_1926075insT uc002qxe.2 - 10 2293_2294 c.1466_1467insA c.(1465-1467)AAGfs p.K489fs MYT1L_uc002qxd.2_Frame_Shift_Ins_p.K489fs|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 489 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATAGTATGGCTTTTTGACATG 0.450 HDLBP 3069 broad.mit.edu 37 2 242186471 242186472 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:242186471_242186472insT uc002waz.2 - 15 2045_2046 c.1817_1818insA c.(1816-1818)AAGfs p.K606fs HDLBP_uc002wba.2_Frame_Shift_Ins_p.K606fs|HDLBP_uc002wbb.2_Frame_Shift_Ins_p.K558fs NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 606 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AAGTTATCACCTTTTTAATGTT 0.401 RSPH1 89765 broad.mit.edu 37 21 43916250 43916257 + Frame_Shift_Del DEL TCATTCTC TCATTCTC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr21:43916250_43916257delTCATTCTC uc002zbg.2 - 1 145_152 c.40_47delGAGAATGA c.(40-48)GAGAATGATfs p.E14fs SLC37A1_uc002zbh.1_RNA NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 14_16 meiosis cytosol|nucleus ovary(1) 1 CACCCCAATATCATTCTCTCCCTCCTCC 0.635 OR11H1 81061 broad.mit.edu 37 22 16448951 16448952 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr22:16448951_16448952insT uc011agd.1 - 1 853_854 c.853_854insA c.(853-855)ATGfs p.M285fs NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 285 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) AATTTTCTGCATCCCTGTAGAA 0.465 TRPS1 7227 broad.mit.edu 37 8 116616365 116616373 + In_Frame_Del DEL AGAGTGCAC AGAGTGCAC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr8:116616365_116616373delAGAGTGCAC uc003ynz.2 - 3 2243_2251 c.1784_1792delGTGCACTCT c.(1783-1794)TGTGCACTCTTG>TTG p.CAL595del TRPS1_uc011lhy.1_In_Frame_Del_p.CAL599del|TRPS1_uc003yny.2_In_Frame_Del_p.CAL608del|TRPS1_uc010mcy.2_In_Frame_Del_p.CAL595del NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 595_597 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGCAGAAGCAAGAGTGCACAGTGGGAACA 0.483 Langer-Giedion_syndrome MACF1 23499 broad.mit.edu 37 1 39801326 39801342 + Frame_Shift_Del DEL AAGTGAAAAAGGGAAAG AAGTGAAAAAGGGAAAG - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr1:39801325_39801341CAAGTGAAAAAGGGAAAG>C uc021olw.1 + 0 4385_4401 c.4385_4401CAAGTGAAAAAGGGAAAG>C c.(4384-4401)tcaagtgaaaaagggaaafs p.S1462fs MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 3027 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding p.K1465K(2) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAATGACCTCAAGTGAAAAAGGGAAAGAAGCTGATA 0.373 MYT1L 23040 broad.mit.edu 37 2 1926075 1926076 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:1926074_1926075C>CT uc002qxe.3 - 9 2293_2294 c.1466_1467G>AG c.(1465-1467)aagfs p.K489fs MYT1L_uc002qxd.3_Frame_Shift_Ins_p.K489fs|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 489 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATAGTATGGCTTTTTGACATG 0.450 TTN 7273 broad.mit.edu 37 2 179471980 179471980 + Frame_Shift_Del DEL A A - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:179471979_179471979TA>T uc021vsy.1 - 226 45871 c.45646_45646TA>A c.(45646-45648)aacfs p.N15216fs MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.N8911fs|TTN_uc021vta.1_Frame_Shift_Del_p.N8844fs|TTN_uc021vtb.1_Frame_Shift_Del_p.N8719fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16143 Fibronectin type-III 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGACCAGTTAAGTAGACAC 0.363 HDLBP 3069 broad.mit.edu 37 2 242186472 242186473 + Splice_Site INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr2:242186471_242186472C>CT uc002waz.3 - 15 1991 c.1818_splice c.e15+1 p.K606_splice HDLBP_uc002wba.3_Splice_Site_p.K606_splice|HDLBP_uc021vzg.1_Splice_Site_p.K573_splice NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 606 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AAGTTATCACCTTTTTAATGTT 0.401 PCDH7 5099 broad.mit.edu 37 4 30724156 30724164 + In_Frame_Del DEL ACCGGATCG ACCGGATCG - rs115429836 byFrequency TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:30724155_30724163CACCGGATCG>C uc003gsk.1 + 0 2119_2127 c.1111_1119CACCGGATCG>C c.(1111-1119)caccggatc>C p.HRI371del PCDH7_uc011bxx.2_In_Frame_Del_p.HRI371del|PCDH7_uc021xnd.1_In_Frame_Del_p.HRI371del|PCDH7_uc021xnc.1_In_Frame_Del_p.HRI371del NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 371 Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CAGCGTCCTGCACCGGATCGACCGCGAGG 0.675 FAT4 79633 broad.mit.edu 37 4 126237620 126237629 + Frame_Shift_Del DEL TCTATCAGTA TCTATCAGTA - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr4:126237619_126237628CTCTATCAGTA>C uc003ifj.4 + 0 53_62 c.53_62CTCTATCAGTA>C c.(52-63)actctatcagtafs p.T18fs NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 18 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCGTTGCACACTCTATCAGTATCTCAGCTC 0.586 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HEATR7B2 133558 broad.mit.edu 37 5 41033143 41033144 + Splice_Site INS - - CAAT TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr5:41033142_41033143C>CCAAT uc003jmj.4 - 23 2851 c.2361_splice c.e23+1 p.L787_splice HEATR7B2_uc003jmi.4_Splice_Site_p.L342_splice NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 787 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TGCACACTCACCAGCATGTAAC 0.446 NUP153 9972 broad.mit.edu 37 6 17675805 17675822 + In_Frame_Del DEL ATCATGCTGAGAGGTAGA ATCATGCTGAGAGGTAGA - rs145527673 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:17675804_17675821CATCATGCTGAGAGGTAGA>C uc003ncd.1 - 2 715_732 c.515_532TCTACCTCTCAGCATGATG>G c.(514-534)tctacctctcagcatgatgat>tGat p.172_178STSQHDD>* NUP153_uc011dje.1_In_Frame_Del_p.172_178STSQHDD>*|NUP153_uc010jpl.1_In_Frame_Del_p.172_178STSQHDD>* NM_005124 NP_005115 P49790 NU153_HUMAN Homo sapiens nucleoporin 153kDa (NUP153), mRNA. 172 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ATGTTATCATCATCATGCTGAGAGGTAGAATCTTTAAT 0.390 LY6G6C 80740 broad.mit.edu 37 6 31686912 31686913 + Frame_Shift_Ins INS - - A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr6:31686911_31686912T>TA uc003nwh.3 - 2 394_395 c.339_340A>TA c.(337-342)cttaccfs p.L113fs LY6G6C_uc010jtd.3_Non-coding_Transcript NM_025261 NP_079537 O95867 LY66C_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA. 113 anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 GCCAAGGAGGTAAGGAAGACAA 0.614 PAPSS2 9060 broad.mit.edu 37 10 89501024 89501040 + Frame_Shift_Del DEL TGGAGACCTTCAGGTGC TGGAGACCTTCAGGTGC - rs113541817 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr10:89501023_89501039GTGGAGACCTTCAGGTGC>G uc001kex.3 + 8 1366_1382 c.1103_1119GTGGAGACCTTCAGGTGC>G c.(1102-1119)ggtggagaccttcaggtgfs p.G368fs PAPSS2_uc001kew.3_Frame_Shift_Del_p.G373fs NM_004670 NP_004661 O95340 PAPS2_HUMAN Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA. 368 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) TGGCTGGTTGGTGGAGACCTTCAGGTGCTGGAGAAAA 0.401 INHBC 3626 broad.mit.edu 37 12 57828874 57828875 + Frame_Shift_Del DEL AG AG - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:57828873_57828874CAG>C uc001snv.1 + 0 331_332 c.204_205CAG>C c.(202-207)tccagafs p.S68fs NM_005538 NP_005529 P55103 INHBC_HUMAN Homo sapiens inhibin, beta C (INHBC), mRNA. 68 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GCCCTGTGTCCAGAGCTGCTTT 0.574 GCN1L1 10985 broad.mit.edu 37 12 120586045 120586071 + In_Frame_Del DEL TGGGAGTCGGTCAGCACCTCCGTAAGC TGGGAGTCGGTCAGCACCTCCGTAAGC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr12:120586044_120586070ATGGGAGTCGGTCAGCACCTCCGTAAGC>A uc001txo.3 - 36 4640_4666 c.4627_4653GCTTACGGAGGTGCTGACCGACTCCCAT>T c.(4627-4653)cttacggaggtgctgaccgactcccat>T p.LTEVLTDSH1543del NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1543 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.K1542Q(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGACTTTGACATGGGAGTCGGTCAGCACCTCCGTAAGCTTGGGCACA 0.577 BRCA2 675 broad.mit.edu 37 13 32913837 32913838 + Frame_Shift_Ins INS - - A rs80358757 TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr13:32913836_32913837C>CA uc001uub.1 + 10 5571_5572 c.5344_5345C>CA c.(5344-5346)caafs p.Q1782fs NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 1782 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding p.N1784fs*7(1) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGTTGAAGATCAAAAAAACACT 0.322 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) EIF2AK4 440275 broad.mit.edu 37 15 40268999 40269000 + In_Frame_Ins INS - - GACGAC TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr15:40268998_40268999G>GGACGAC uc001zkm.1 + 11 2252_2253 c.2202_2203G>GGACGAC c.(2200-2205)gaggac>gaGGACGACac p.737_738insD EIF2AK4_uc010bbj.1_In_Frame_Ins_p.466_467insD NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 737 Protein kinase 2. translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GCGATGACGAGGACGACGACGA 0.678 CYB5D2 124936 broad.mit.edu 37 17 4057987 4058011 + Frame_Shift_Del DEL CTACGGAGAGGATGGGCTGCCCACC CTACGGAGAGGATGGGCTGCCCACC - rs144648688 byFrequency TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:4057986_4058010TCTACGGAGAGGATGGGCTGCCCACC>T uc002fxm.4 + 2 998_1022 c.410_434TCTACGGAGAGGATGGGCTGCCCACC>T c.(409-435)ttctacggagaggatgggctgcccaccfs p.F137fs CYB5D2_uc002fxl.4_Frame_Shift_Del_p.F25fs|CYB5D2_uc010cko.3_Frame_Shift_Del_p.F25fs NM_144611 NP_001241685 Q8WUJ1 NEUFC_HUMAN Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA. 137 nervous system development extracellular region heme binding breast(1)|large_intestine(3)|liver(2)|ovary(1) 7 ACAGGACGGTTCTACGGAGAGGATGGGCTGCCCACCCCGGCACTG 0.591 KIAA0100 9703 broad.mit.edu 37 17 26960977 26960983 + Frame_Shift_Del DEL AAGCCCC AAGCCCC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:26960976_26960982GAAGCCCC>G uc002hbu.3 - 16 3296_3302 c.3193_3199GGGGCTTC>C c.(3193-3201)gggcttccgfs p.G1065fs NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 1065 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TTACCCCACGGAAGCCCCAAGTGCAAG 0.565 KAT2A 2648 broad.mit.edu 37 17 40271704 40271708 + Frame_Shift_Del DEL ACTAA ACTAA - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:40271703_40271707GACTAA>G uc002hyx.2 - 4 789_793 c.729_733TTAGTC>C c.(727-735)tttagtcacfs p.F243fs NM_021078 NP_066564 Q92830 KAT2A_HUMAN Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA. 243 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GGAGCCAGGTGACTAAACTTGTACT 0.541 MED13 9969 broad.mit.edu 37 17 60042423 60042452 + In_Frame_Del DEL CCCAGCTGTCTGTAGAGCTGATGTCTGTTG CCCAGCTGTCTGTAGAGCTGATGTCTGTTG - rs9907648 by1000genomes TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr17:60042422_60042451TCCCAGCTGTCTGTAGAGCTGATGTCTGTTG>T uc002izo.3 - 19 4837_4866 c.4760_4789CAACAGACATCAGCTCTACAGACAGCTGGGA>A c.(4759-4791)caacagacatcagctctacagacagctgggatt>cAtt p.1587_1597QQTSALQTAGI>H NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 1587 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCTCCAGAAATCCCAGCTGTCTGTAGAGCTGATGTCTGTTGCCCTCCTAG 0.426 ZNF44 51710 broad.mit.edu 37 19 12384018 12384024 + Frame_Shift_Del DEL GAACCAG GAACCAG - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 g.chr19:12384017_12384023TGAACCAG>T uc010xmj.2 - 4 1396_1402 c.1191_1197CTGGTTCA>A c.(1189-1197)cctggttcafs p.P397fs ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Frame_Shift_Del_p.P349fs NM_001164276 NP_001157748 P15621 ZNF44_HUMAN Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA. 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) GAATTCGTGCTGAACCAGGAAAATCAA 0.401