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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SLC6A9 6536 broad.mit.edu 37 1 44482733 44482733 + Missense_Mutation SNP A A G TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr1:44482733A>G uc001cll.3 - 0 265 c.73T>C c.(73-75)Tct>Cct p.S25P SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Missense_Mutation_p.S25P|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.S25P|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 25 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TCTGGGGAAGAGGGGGCCACA 0.672000 3 51 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26809335 26809335 + Missense_Mutation SNP C C T TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr12:26809335C>T uc001rhg.3 - 18 2756 c.2339G>A c.(2338-2340)cGc>cAc p.R780H NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 780 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.C779*(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GAGCATGAGGCGACAGAAGGA 0.562000 10 63 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117984149 117984149 + Splice_Site SNP A A G TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr11:117984149A>G uc021qrd.1 + 9 1201 c.910_splice c.e9+1 p.G304_splice TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.G299_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.G302_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.G264_splice|TMPRSS4_uc010rxq.2_Splice_Site_p.G157_splice|TMPRSS4_uc010rxr.2_Splice_Site_p.G279_splice|TMPRSS4_uc010rxt.2_Splice_Site_p.G279_splice NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 304 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TCACTTTCTCAGGTGAGAAGC 0.517000 3 81 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783144 115783144 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr5:115783144G>A uc003krx.4 - 19 3018 c.2309C>T c.(2308-2310)aCg>aTg p.T770M SEMA6A_uc010jck.3_Missense_Mutation_p.T753M|SEMA6A_uc011cwe.2_Missense_Mutation_p.T132M|SEMA6A_uc003krv.4_Missense_Mutation_p.T180M|SEMA6A_uc003krw.4_Missense_Mutation_p.T230M|SEMA6A_uc010jcj.3_Missense_Mutation_p.T297M NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA. 753 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGGGAGGGCCGTCAGGTCCAG 0.637000 5 243 0 0 1 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241516021 241516021 + Missense_Mutation SNP C C T TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr2:241516021C>T uc002vzi.3 + 8 1580 c.887C>T c.(886-888)tCc>tTc p.S296F RNPEPL1_uc002vzj.3_5'UTR NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA. 296 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) TCTCAGGGATCCAGCCTGACC 0.662000 9 41 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45427465 45427465 + Silent SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr15:45427465G>A uc001zus.1 + 5 817 c.471G>A c.(469-471)cgG>cgA p.R157R DUOX1_uc001zut.1_Silent_p.R157R|DUOX1_uc010bee.1_5'UTR NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 157 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AGACCGGACGGAGTCCCAGCA 0.726000 6 14 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77755652 77755652 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr17:77755652G>A uc002jxb.2 + 3 398 c.340G>A c.(340-342)Gta>Ata p.V114I CBX2_uc002jxc.3_Intron NM_032647 NP_116036 Q14781 CBX2_HUMAN Homo sapiens chromobox homolog 2 (CBX2), transcript variant 2, mRNA. 0 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding p.V114L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCCCCTTGGCGTAGGGGGCAG 0.637000 4 61 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264231 67264231 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr16:67264231G>A uc002esl.3 - 18 3149 c.3037C>T c.(3037-3039)Cgc>Tgc p.R1013C FHOD1_uc010ced.3_Missense_Mutation_p.R820C NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 1013 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTGATCATGCGTCCCCGGGTC 0.582000 3 66 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 68 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301013 11301013 + Missense_Mutation SNP G G A rs139664451 byFrequency TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr3:11301013G>A uc010hdr.3 + 1 632 c.290G>A c.(289-291)cGt>cAt p.R97H HRH1_uc010hds.3_Missense_Mutation_p.R97H|HRH1_uc010hdt.3_Missense_Mutation_p.R97H|HRH1_uc003bwb.4_Missense_Mutation_p.R97H|HRH1_uc021wtb.1_Missense_Mutation_p.R97H NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 97 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TCACTGGGCCGTCCTCTCTGC 0.552000 5 218 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368263 18368263 + Silent SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr19:18368263G>A uc010ebn.2 - 3 4047 c.3831C>T c.(3829-3831)ggC>ggT p.G1277G PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.G1090G|KIAA1683_uc010xqe.1_Silent_p.G1044G|KIAA1683_uc010xqf.1_Non-coding_Transcript NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTGCCCCGGGGCCCTCAGTGC 0.687000 4 22 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725536 158725536 + Missense_Mutation SNP T T C TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr1:158725536T>C uc001fsw.1 + 0 931 c.931T>C c.(931-933)Ttt>Ctt p.F311L NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCTTGCTCCCTTTTTCAACCC 0.438000 3 100 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51171483 51171483 + Frame_Shift_Del DEL C C - TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr19:51171483delC uc002psx.1 - 21 3753 c.3734delG c.(3733-3735)ggcfs p.G1245fs SHANK1_uc002psw.1_Frame_Shift_Del_p.G629fs NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 1245 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ATTCTGCCAGCCCCCCTCCCT 0.796 2 4 --- --- --- ---