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 CHD5 26038 broad.mit.edu 37 1 6209393 6209393 + Silent SNP G G A rs147670357 TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr1:6209393G>A uc001amb.1 - 8 1174 c.1074C>T c.(1072-1074)TGC>TGT p.C358C CHD5_uc001amc.1_5'Flank NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 358 PHD-type 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGCAGGTGTCGCACAGGATGA 0.602000 ASTN1 460 broad.mit.edu 37 1 176838101 176838101 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr1:176838101C>T uc001glc.2 - 22 3738 c.3526G>A c.(3526-3528)GCC>ACC p.A1176T ASTN1_uc001glb.1_Missense_Mutation_p.A1176T|ASTN1_uc001gld.1_Missense_Mutation_p.A1176T NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1184 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GTGTTGTAGGCGGTCTGCTGC 0.468000 SIPA1L2 57568 broad.mit.edu 37 1 232551275 232551275 + Missense_Mutation SNP C C A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr1:232551275C>A uc001hvg.2 - 17 4885 c.4727G>T c.(4726-4728)TGG>TTG p.W1576L SIPA1L2_uc001hvf.2_Missense_Mutation_p.W650L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1576 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GAGGTGGGTCCAATCTAACCC 0.572000 RGS7 6000 broad.mit.edu 37 1 240975337 240975337 + Missense_Mutation SNP T T G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr1:240975337T>G uc001hyv.2 - 14 1293 c.963A>C c.(961-963)GAA>GAC p.E321D RGS7_uc010pyh.1_Missense_Mutation_p.E295D|RGS7_uc010pyj.1_Missense_Mutation_p.E237D|RGS7_uc001hyu.2_Missense_Mutation_p.E321D|RGS7_uc009xgn.1_Missense_Mutation_p.E268D|RGS7_uc001hyw.2_Missense_Mutation_p.E321D|RGS7_uc001hyt.2_Missense_Mutation_p.E153D NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 321 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GCTGGCTCGGTTCTTTGCTAT 0.398000 OR2M5 127059 broad.mit.edu 37 1 248308867 248308867 + Missense_Mutation SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr1:248308867A>G uc010pze.1 + 1 418 c.418A>G c.(418-420)ATT>GTT p.I140V NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GAGACCCAAAATTTGTGGACT 0.468000 PCDH15 65217 broad.mit.edu 37 10 55582245 55582245 + Silent SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr10:55582245A>G uc001jju.1 - 33 5636 c.5241T>C c.(5239-5241)CTT>CTC p.L1747L PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1744L|PCDH15_uc010qhw.1_Silent_p.L1707L|PCDH15_uc010qhx.1_Silent_p.L1678L|PCDH15_uc010qhy.1_Silent_p.L1754L|PCDH15_uc010qhz.1_Silent_p.L1749L|PCDH15_uc010qia.1_Silent_p.L1727L|PCDH15_uc010qib.1_Silent_p.L1724L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1747 Poly-Pro.|Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) gaggagggggaaggggaCAGG 0.179000 HNSCC(58;0.16) HIF1AN 55662 broad.mit.edu 37 10 102305759 102305759 + Silent SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr10:102305759C>T uc001krj.3 + 5 858 c.783C>T c.(781-783)TAC>TAT p.Y261Y NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 261 JmjC.|Interaction with HIF1A.|Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) TGGTTGGTTACGAAACAGTGG 0.453000 OR5AS1 219447 broad.mit.edu 37 11 55798495 55798495 + Missense_Mutation SNP G G T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr11:55798495G>T uc010riw.1 + 1 601 c.601G>T c.(601-603)GCT>TCT p.A201S NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCTGCTCTTTGCTTTGTGCAG 0.423000 CHFR 55743 broad.mit.edu 37 12 133435715 133435715 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr12:133435715C>G uc001ulf.2 - 8 970 c.886G>C c.(886-888)GAC>CAC p.D296H CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D284H|CHFR_uc010tbs.1_Missense_Mutation_p.D296H|CHFR_uc001uld.2_Missense_Mutation_p.D255H|CHFR_uc010tbt.1_Missense_Mutation_p.D204H NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 296 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TCCATCTTGTCTGGCTTCCCA 0.597000 BRCA2 675 broad.mit.edu 37 13 32911853 32911853 + Missense_Mutation SNP T T A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr13:32911853T>A uc001uub.1 + 11 3588 c.3361T>A c.(3361-3363)TCA>ACA p.S1121T NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1121 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 gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 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) ATTAGAAGAATCAGGAAGTCA 0.338000 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) BRCA2 675 broad.mit.edu 37 13 32911967 32911967 + Missense_Mutation SNP T T A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr13:32911967T>A uc001uub.1 + 11 3702 c.3475T>A c.(3475-3477)TGC>AGC p.C1159S NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1159 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 gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 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) TTCTGAGGAATGCAGAGATGC 0.388000 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) OCA2 4948 broad.mit.edu 37 15 28228574 28228574 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr15:28228574A>C uc001zbh.3 - 14 1530 c.1420T>G c.(1420-1422)TTC>GTC p.F474V OCA2_uc010ayv.2_Missense_Mutation_p.F450V NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 474 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ATGTTTGTGAAGATCACTTCT 0.468000 Oculocutaneous_Albinism TMEM85 51234 broad.mit.edu 37 15 34517759 34517759 + Missense_Mutation SNP G G T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr15:34517759G>T uc001zhq.2 + 2 180 c.109G>T c.(109-111)GGC>TGC p.G37C TMEM85_uc010ucb.1_Missense_Mutation_p.G37C|TMEM85_uc001zhr.2_RNA|TMEM85_uc001zhs.2_Missense_Mutation_p.G37C|TMEM85_uc010bat.2_Intron NM_016454 NP_057538 Q5J8M3 TMM85_HUMAN transmembrane protein 85 37 apoptosis integral to membrane 0 all_lung(180;1.15e-06) all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217) CCGGGGCAGTGGCCAGGGAGA 0.512000 ABCC12 94160 broad.mit.edu 37 16 48149471 48149471 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr16:48149471C>T uc002efc.1 - 13 2190 c.1844G>A c.(1843-1845)CGC>CAC p.R615H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 615 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) GTAGACAGCGCGGGCCAGGCT 0.632000 CDH8 1006 broad.mit.edu 37 16 61687741 61687741 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr16:61687741A>C uc002eog.1 - 12 2423 c.2171T>G c.(2170-2172)TTT>TGT p.F724C NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 724 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TACATTTATAAATTCATCGAC 0.453000 MYH4 4622 broad.mit.edu 37 17 10368833 10368833 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr17:10368833C>T uc002gmn.2 - 5 542 c.431G>A c.(430-432)CGA>CAA p.R144Q uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 144 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CTTTTTGCCTCGGTAGGCTGT 0.542000 KRTAP9-9 81870 broad.mit.edu 37 17 39412077 39412077 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr17:39412077C>G uc010wfq.1 + 3 397 c.395C>G c.(394-396)ACC>AGC p.T132S NM_030975 NP_112237 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 147 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGTGAGACCACCTGCTGC 0.607000 CLUL1 27098 broad.mit.edu 37 18 644941 644941 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr18:644941C>T uc002kkp.2 + 8 1386 c.1241C>T c.(1240-1242)TCC>TTC p.S414F CLUL1_uc010wys.1_Missense_Mutation_p.S466F|CLUL1_uc002kkq.2_Missense_Mutation_p.S414F NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 414 cell death extracellular region ovary(2) 2 GGAAATATTTCCAAACAAGAT 0.348000 FECH 2235 broad.mit.edu 37 18 55247314 55247314 + Missense_Mutation SNP G G A rs150830931 byFrequency TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr18:55247314G>A uc002lgq.3 - 2 302 c.185C>T c.(184-186)CCG>CTG p.P62L FECH_uc002lgp.3_Missense_Mutation_p.P62L|FECH_uc002lgr.3_5'UTR NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor 62 P -> R (in EPP). generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1) 1 Colorectal(73;0.227) CCTCTTCTGCGGTTGAACTTG 0.522000 ZNF99 7652 broad.mit.edu 37 19 22940942 22940942 + Missense_Mutation SNP T T C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr19:22940942T>C uc010xrh.1 - 5 1496 c.1496A>G c.(1495-1497)GAG>GGG p.E499G NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GTAGGGTTTCTCCCCAGTATG 0.358000 PSG2 5670 broad.mit.edu 37 19 43575896 43575896 + Missense_Mutation SNP G G C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr19:43575896G>C uc002ovr.2 - 4 1013 c.920C>G c.(919-921)GCC>GGC p.A307G PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.A307G|PSG2_uc010eiq.1_Missense_Mutation_p.A307G|PSG2_uc002ovs.3_Missense_Mutation_p.A307G|PSG2_uc002ovt.3_Missense_Mutation_p.A307G NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 307 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) CTCGCCAGTGGCTGAGTTACG 0.458000 DPRX 503834 broad.mit.edu 37 19 54140031 54140031 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr19:54140031C>T uc002qcf.1 + 3 416 c.365C>T c.(364-366)ACG>ATG p.T122M NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 122 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CTGGTGTACACGGGTCATCGA 0.562000 ZNF274 10782 broad.mit.edu 37 19 58697083 58697083 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr19:58697083C>G uc002qrq.1 + 3 497 c.38C>G c.(37-39)CCA>CGA p.P13R ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.P13R|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 13 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TTTTAGGAACCAGTGACCTTT 0.512000 PXDN 7837 broad.mit.edu 37 2 1677547 1677547 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr2:1677547A>C uc002qxa.2 - 9 950 c.886T>G c.(886-888)TTG>GTG p.L296V PXDN_uc002qxb.1_Missense_Mutation_p.L296V|PXDN_uc002qxc.1_Missense_Mutation_p.L113V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 296 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCGTCCAGCAAGTTTAGGCGG 0.502000 KCNIP3 30818 broad.mit.edu 37 2 96040939 96040939 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr2:96040939G>A uc002sup.2 + 5 545 c.430G>A c.(430-432)GGG>AGG p.G144R KCNIP3_uc002suq.2_Missense_Mutation_p.G118R NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 144 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) GGACGGGAACGGGGCCATCCA 0.622000 HOXD3 3232 broad.mit.edu 37 2 177036736 177036736 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr2:177036736G>A uc002ukt.1 + 3 1209 c.1033G>A c.(1033-1035)GGC>AGC p.G345S NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 345 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) CAACGGCGGCGGCTTCGCCAG 0.697000 TTN 7273 broad.mit.edu 37 2 179640792 179640792 + Missense_Mutation SNP T T G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr2:179640792T>G uc010zfg.1 - 28 6023 c.5799A>C c.(5797-5799)GAA>GAC p.E1933D TTN_uc010zfh.1_Missense_Mutation_p.E1887D|TTN_uc010zfi.1_Missense_Mutation_p.E1887D|TTN_uc010zfj.1_Missense_Mutation_p.E1887D|TTN_uc002unb.2_Missense_Mutation_p.E1933D|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1933 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) ACCTAAAATCTTCCCTCTGTT 0.443000 OBSL1 23363 broad.mit.edu 37 2 220432469 220432469 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr2:220432469G>A uc010fwk.2 - 3 1562 c.1505C>T c.(1504-1506)TCC>TTC p.S502F OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.S502F|OBSL1_uc002vmj.2_Missense_Mutation_p.S89F NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 502 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AGTGGTACGGGAGTTGCCCAG 0.622000 SNPH 9751 broad.mit.edu 37 20 1277044 1277044 + Missense_Mutation SNP G G C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr20:1277044G>C uc002wes.2 + 3 265 c.29G>C c.(28-30)CGG>CCG p.R10P SNPH_uc002wet.2_Missense_Mutation_p.R54P NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 10 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GGAAGTAGACGGACCTCTGCT 0.642000 GGTLC1 92086 broad.mit.edu 37 20 23967072 23967072 + Splice_Site SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr20:23967072C>T uc002wts.2 - 2 309 c.176_splice c.e2+1 p.Y59_splice GGTLC1_uc002wtu.2_Splice_Site_p.Y59_splice NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 gamma-glutamyltransferase activity ovary(1) 1 GCAGCCCCTACTAGAGGTTGA 0.632000 KRTAP21-2 337978 broad.mit.edu 37 21 32119459 32119459 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr21:32119459G>A uc011adh.1 - 1 62 c.62C>T c.(61-63)TCC>TTC p.S21F NM_181617 NP_853648 Q3LI59 KR212_HUMAN keratin associated protein 21-2 21 intermediate filament 0 tccacagccggaactccagcc 0.149000 OR5K1 26339 broad.mit.edu 37 3 98188977 98188977 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr3:98188977G>A uc003dsm.2 + 1 557 c.557G>A c.(556-558)AGA>AAA p.R186K NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 CCCTTGTATAGACTCTCTTGT 0.363000 DHX36 170506 broad.mit.edu 37 3 154010343 154010343 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr3:154010343C>T uc003ezy.3 - 15 1892 c.1811G>A c.(1810-1812)GGA>GAA p.G604E DHX36_uc010hvq.2_Missense_Mutation_p.G590E|DHX36_uc003ezz.3_Missense_Mutation_p.G604E NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 604 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ACCTTACCTTCCAGCTCGACC 0.348000 FNDC3B 64778 broad.mit.edu 37 3 172055153 172055153 + Missense_Mutation SNP T T G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr3:172055153T>G uc003fhy.2 + 16 1986 c.1814T>G c.(1813-1815)CTC>CGC p.L605R FNDC3B_uc003fhz.3_Missense_Mutation_p.L605R|FNDC3B_uc003fia.2_Missense_Mutation_p.L536R NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 605 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TCAGAAATCCTCAAGTACTTG 0.328000 WHSC1 7468 broad.mit.edu 37 4 1978261 1978261 + Silent SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr4:1978261G>A uc003gdz.3 + 21 3857 c.3681G>A c.(3679-3681)CGG>CGA p.R1227R WHSC1_uc003geb.3_Silent_p.R1227R|WHSC1_uc003gec.3_Silent_p.R1227R|WHSC1_uc003ged.3_Silent_p.R1227R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.R446R|WHSC1_uc011bvh.1_Silent_p.R288R|WHSC1_uc010icf.2_Silent_p.R575R NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1227 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AAACGAGGCGGCGCAGAGCAA 0.537000 T IGH@ MM LATS1 9113 broad.mit.edu 37 6 150001244 150001244 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr6:150001244C>G uc003qmu.1 - 5 2908 c.2360G>C c.(2359-2361)GGG>GCG p.G787A LATS1_uc010kif.1_Missense_Mutation_p.G682A|LATS1_uc003qmv.1_Missense_Mutation_p.G787A NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 787 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CATATCACCCCCAGGAATGTA 0.388000 CHRM2 1129 broad.mit.edu 37 7 136701002 136701002 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr7:136701002G>A uc003vtf.1 + 4 2013 c.1390G>A c.(1390-1392)GCT>ACT p.A464T CHRM2_uc003vtg.1_Missense_Mutation_p.A464T|CHRM2_uc003vtj.1_Missense_Mutation_p.A464T|CHRM2_uc003vtk.1_Missense_Mutation_p.A464T|CHRM2_uc003vtl.1_Missense_Mutation_p.A464T|CHRM2_uc003vtm.1_Missense_Mutation_p.A464T|CHRM2_uc003vti.1_Missense_Mutation_p.A464T|CHRM2_uc003vto.1_Missense_Mutation_p.A464T|CHRM2_uc003vtn.1_Missense_Mutation_p.A464T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 464 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GAACATAGGCGCTACAAGGTA 0.408000 RP1L1 94137 broad.mit.edu 37 8 10467031 10467031 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr8:10467031G>A uc003wtc.2 - 4 4806 c.4577C>T c.(4576-4578)ACG>ATG p.T1526M NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1526 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGCCTTCTCCGTCTTCTTCAG 0.662000 PSD3 23362 broad.mit.edu 37 8 18725257 18725257 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr8:18725257C>T uc003wza.2 - 4 1664 c.1561G>A c.(1561-1563)GTC>ATC p.V521I NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 521 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CCATTGGTGACGCCACTAGAA 0.522000 UNC5D 137970 broad.mit.edu 37 8 35542177 35542177 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr8:35542177C>T uc003xjr.1 + 6 1157 c.829C>T c.(829-831)CGG>TGG p.R277W UNC5D_uc003xjs.1_Missense_Mutation_p.R272W|UNC5D_uc003xjt.1_Missense_Mutation_p.R46W NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 277 TSP type-1 1.|Extracellular (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GAAACGTTCCCGGACCTGCAC 0.522000 CSMD3 114788 broad.mit.edu 37 8 113960100 113960100 + Missense_Mutation SNP T T A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr8:113960100T>A uc003ynu.2 - 9 1586 c.1427A>T c.(1426-1428)GAG>GTG p.E476V CSMD3_uc003ynt.2_Missense_Mutation_p.E436V|CSMD3_uc011lhx.1_Missense_Mutation_p.E372V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 476 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AATACCTCCCTCATTTACTGC 0.274000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) SEC16A 9919 broad.mit.edu 37 9 139368957 139368957 + Silent SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chr9:139368957A>C uc004chx.2 - 3 3420 c.3111T>G c.(3109-3111)CTT>CTG p.L1037L SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Silent_p.L1037L|SEC16A_uc010nbn.2_Silent_p.L1037L|SEC16A_uc010nbo.1_Silent_p.L1037L NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 859 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AAAAACGGTCAAGGTTAGGCG 0.582000 PCDH11X 27328 broad.mit.edu 37 X 91134131 91134131 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chrX:91134131A>C uc004efk.1 + 2 3737 c.2892A>C c.(2890-2892)CAA>CAC p.Q964H PCDH11X_uc004efl.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efo.1_Missense_Mutation_p.Q964H|PCDH11X_uc010nmv.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efm.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efn.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efh.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efj.1_Missense_Mutation_p.Q964H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 964 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ACATCATCCAAGAACTGCCTC 0.507000 NRK 203447 broad.mit.edu 37 X 105178264 105178264 + Silent SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chrX:105178264A>G uc004emd.2 + 20 3630 c.3327A>G c.(3325-3327)GGA>GGG p.G1109G NRK_uc010npc.1_Silent_p.G777G NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1109 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CAGGTGGTGGAAATGAGGCCT 0.418000 HNSCC(51;0.14) DCAF12L2 340578 broad.mit.edu 37 X 125299770 125299770 + Silent SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chrX:125299770C>T uc004euk.1 - 1 165 c.138G>A c.(136-138)GCG>GCA p.A46A NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 46 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TGCGACGCGTCGCCGGCCGCT 0.741000 MAGEC1 9947 broad.mit.edu 37 X 140995303 140995303 + Missense_Mutation SNP C C A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 g.chrX:140995303C>A uc004fbt.2 + 4 2399 c.2113C>A c.(2113-2115)CTG>ATG p.L705M MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 705 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGACTCCCTGTCTTCTCT 0.562000 HNSCC(15;0.026)