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 KCNK3 3777 broad.mit.edu 37 2 26950601 26950601 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr2:26950601G>A ENST00000302909.3 + 2 475 c.350G>A c.(349-351)gGc>gAc p.G117D NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 117 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGCTGCTGGGCATCCCGCTC 0.632000 4 161 0 0 0.150653 0 0 WDR52 55779 broad.mit.edu 37 3 113115480 113115480 + Missense_Mutation SNP G G A rs145391746 TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr3:113115480G>A ENST00000393845.2 - 14 1730 c.1664C>T c.(1663-1665)gCg>gTg p.A555V WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 555 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CTTCCGTCCCGCAAAAATCGT 0.398000 4 163 0 0 0.150653 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986719 11986719 + RNA SNP G G C TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr8:11986719G>C ENST00000434078.2 + 0 608 NR_027425.1 TGGATTTCAGGAAAAGCTGCA 0.522000 4 164 0 0 0.038147 0 0 OR13C8 138802 broad.mit.edu 37 9 107331658 107331658 + Silent SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr9:107331658C>T ENST00000335040.1 + 1 210 c.210C>T c.(208-210)gaC>gaT p.D70D NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CCTTCCTCGACGTTTGCTACA 0.423000 7 523 0 0 0.029380 0 0 MYBPHL 343263 broad.mit.edu 37 1 109838960 109838960 + Nonsense_Mutation SNP G G A rs139849511 byFrequency TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr1:109838960G>A ENST00000357155.1 - 6 812 c.763C>T c.(763-765)Cga>Tga p.R255* MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 255 p.R255*(1) central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) GAGAAGTCTCGTTGGGCAAAC 0.552000 4 102 0 0 0.150653 0 0 MUC17 140453 broad.mit.edu 37 7 100682390 100682390 + Missense_Mutation SNP C C A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr7:100682390C>A ENST00000306151.4 + 3 7757 c.7693C>A c.(7693-7695)Cct>Act p.P2565T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2565 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCTACCTCAAC 0.488000 149 306 5.47995e-64 6.99568e-64 0.139131 1 0 TADA2B 93624 broad.mit.edu 37 4 7056535 7056535 + Silent SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr4:7056535C>T ENST00000310074.7 + 2 1206 c.1017C>T c.(1015-1017)ttC>ttT p.F339F TADA2B_ENST00000515646.1_Silent_p.F247F|TADA2B_ENST00000512388.1_Silent_p.F264F NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 ACAGCGAGTTCGCCGCCATTG 0.562000 5 90 0 0 0.014758 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667723 65667723 + Nonsense_Mutation SNP C C A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr15:65667723C>A ENST00000327987.4 - 2 372 c.121G>T c.(121-123)Gaa>Taa p.E41* NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 41 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AATGCCAGTTCAGCAGAGTGG 0.552000 3 29 0.115264 0.117218 0.115264 1 0 ABCC6 368 broad.mit.edu 37 16 16295884 16295884 + Missense_Mutation SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr16:16295884C>T ENST00000205557.7 - 9 1179 c.1150G>A c.(1150-1152)Gcc>Acc p.A384T ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 384 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCAGTGATGGCCGACCGCAAC 0.572000 4 161 0 0 0.014758 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 0 0 0 0.150653 0 0 MYOF 26509 broad.mit.edu 37 10 95216640 95216640 + Splice_Site SNP T T C TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr10:95216640T>C ENST00000371501.4 - 2 265 c.144_splice c.e2+1 p.E48_splice MYOF_ENST00000371489.1_Splice_Site_p.E48_splice|MYOF_ENST00000371502.4_Splice_Site_p.E48_splice|MYOF_ENST00000358334.5_Splice_Site_p.E48_splice|MYOF_ENST00000359263.4_Splice_Site_p.E48_splice|MYOF_ENST00000371488.3_Splice_Site_p.E48_splice Q9NZM1 MYOF_HUMAN myoferlin 48 C2 1. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGAAGTCACCTCATTCCAGAC 0.333000 3 128 0 0 0.150653 0 0 MTRR 4552 broad.mit.edu 37 5 7895897 7895897 + Silent SNP C C A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr5:7895897C>A ENST00000264668.2 + 12 1719 c.1689C>A c.(1687-1689)ccC>ccA p.P563P MTRR_ENST00000440940.2_Silent_p.P536P NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 563 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CAGATGACCCCTCAATCCCCA 0.408000 5 373 8.12818e-05 9.56257e-05 0.029380 1 0 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr17:7578272G>A ENST00000420246.2 - 6 709 c.577C>T c.(577-579)Cat>Tat p.H193Y TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGATAAGATGCTGAGGAGGG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 37 30 0 0 0.074837 0 0 SGCG 6445 broad.mit.edu 37 13 23869612 23869612 + Silent SNP G G T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr13:23869612G>T ENST00000218867.3 + 6 688 c.564G>T c.(562-564)ccG>ccT p.P188P SGCG_ENST00000545013.1_Silent_p.P188P|SGCG_ENST00000537476.1_Silent_p.P188P NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 188 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GAGCCGACCCGTTTCAAGACC 0.408000 83 183 9.10118e-52 1.13765e-51 0.139131 1 0 GPR137 56834 broad.mit.edu 37 11 64056826 64056826 + Missense_Mutation SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr11:64056826C>T ENST00000411458.1 + 9 1445 c.1417C>T c.(1417-1419)Ccg>Tcg p.P473S GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 415 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGAGCTTGTGCCGTCCCCCTA 0.647000 4 148 0 0 0.150653 0 0 UQCR10 29796 broad.mit.edu 37 22 30163417 30163417 + Silent SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr22:30163417G>A ENST00000330029.6 + 1 60 c.30G>A c.(28-30)ttG>ttA p.L10L UQCR10_ENST00000401406.3_Silent_p.L10L NM_001003684.1|NM_013387.3 NP_001003684.1|NP_037519.2 Q9UDW1 QCR9_HUMAN ubiquinol-cytochrome c reductase, complex III subunit X 10 mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1) 5 CTTCGAAATTGTACTCCCTGC 0.622000 25 47 0 0 0.108266 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119798885 119798885 + Missense_Mutation SNP C C G TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr10:119798885C>G ENST00000355624.3 - 3 1302 c.863G>C c.(862-864)aGc>aCc p.S288T RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S288T NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 288 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) ATCCACAATGCTGTCAGGTTG 0.368000 6 152 0 0 0.021553 0 0 SARDH 1757 broad.mit.edu 37 9 136573487 136573487 + Silent SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr9:136573487G>A ENST00000371872.4 - 11 1649 c.1392C>T c.(1390-1392)taC>taT p.Y464Y SARDH_ENST00000439388.1_Silent_p.Y464Y|SARDH_ENST00000422262.2_Silent_p.Y296Y NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 464 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGTTCTTGGCGTAGGACTCAT 0.652000 14 115 0 0 0.119110 0 0 ZNF626 199777 broad.mit.edu 37 19 20807796 20807796 + Missense_Mutation SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr19:20807796C>T ENST00000601440.1 - 4 1033 c.887G>A c.(886-888)cGg>cAg p.R296Q CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 GGTTGAGGACCGGTTGAAGGC 0.388000 5 281 0 0 0.021553 0 0 HENMT1 113802 broad.mit.edu 37 1 109191481 109191481 + Silent SNP G G T rs140991391 by1000genomes TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr1:109191481G>T ENST00000370032.5 - 8 1309 c.889C>A c.(889-891)Cgg>Agg p.R297R HENMT1_ENST00000402983.1_Silent_p.R297R|HENMT1_ENST00000370031.1_Silent_p.R328R NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 297 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 TTATCACCCCGTTCCCCAGCC 0.507000 3 91 0.000602214 0.000669127 0.014758 1 0 PPFIBP1 8496 broad.mit.edu 37 12 27787945 27787945 + Missense_Mutation SNP G G T rs148953958 TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr12:27787945G>T ENST00000318304.8 + 4 450 c.167G>T c.(166-168)cGt>cTt p.R56L PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R56L|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000537927.1_Intron NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 56 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GAAGACCTGCGTGGATTGTTA 0.458000 12 222 0.0809354 0.0837262 0.080935 1 0 LCP1 3936 broad.mit.edu 37 13 46730641 46730641 + Silent SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr13:46730641C>T ENST00000398576.2 - 8 811 c.423G>A c.(421-423)cgG>cgA p.R141R LCP1_ENST00000323076.2_Silent_p.R141R P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 141 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding p.R141R(1) breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GGATGACATGCCGACAATCAG 0.383000 T BCL6 NHL 5 386 0 0 0.014758 0 0 CHD7 55636 broad.mit.edu 37 8 61767019 61767019 + Missense_Mutation SNP C C A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr8:61767019C>A ENST00000423902.2 + 32 7352 c.6873C>A c.(6871-6873)gaC>gaA p.D2291E CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2291 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.D2291D(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACATGGAGGACGGAGATCCTT 0.458000 7 197 8.12818e-05 9.56257e-05 0.029380 1 0 ANXA10 11199 broad.mit.edu 37 4 169108555 169108555 + Silent SNP C C A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr4:169108555C>A ENST00000359299.3 + 12 1131 c.945C>A c.(943-945)gcC>gcA p.A315A NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 315 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) CACTGCTTGCCATCTGTGCTG 0.338000 38 128 6.68952e-21 8.19125e-21 0.131918 1 0 MUC4 4585 broad.mit.edu 37 3 195507717 195507717 + Silent SNP G G T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr3:195507717G>T ENST00000463781.3 - 2 11193 c.10734C>A c.(10732-10734)tcC>tcA p.S3578S MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 376 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S3578S(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCTGTGGATACTGAGG 0.587000 3 3 0.004672 0.00500571 0.115264 1 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 8 75 0 0 0.058154 0 0 ITGAM 3684 broad.mit.edu 37 16 31308843 31308843 + Silent SNP C C A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr16:31308843C>A ENST00000544665.3 + 13 1436 c.1365C>A c.(1363-1365)gcC>gcA p.A455A ITGAM_ENST00000287497.8_Silent_p.A455A NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 455 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGATCGGCGCCTACTTCGGGG 0.587000 10 337 0.00010058 0.000116054 0.093190 1 0 PKN3 29941 broad.mit.edu 37 9 131481983 131481983 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr9:131481983G>A ENST00000291906.4 + 19 2537 c.2144G>A c.(2143-2145)cGg>cAg p.R715Q PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 715 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 TTCGGGGACCGGACTAGCACC 0.592000 15 434 0 0 0.132662 0 0 RYR1 6261 broad.mit.edu 37 19 39019676 39019676 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr19:39019676G>A ENST00000355481.4 + 75 11236 c.11105G>A c.(11104-11106)cGc>cAc p.R3702H RYR1_ENST00000359596.3_Missense_Mutation_p.R3707H|RYR1_ENST00000360985.3_Missense_Mutation_p.R3707H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3707 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R3707L(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CACTTCAGCCGCACTGCCCTG 0.637000 3 51 0 0 0.115264 0 0 NEK5 341676 broad.mit.edu 37 13 52676276 52676276 + Missense_Mutation SNP C C G TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr13:52676276C>G ENST00000355568.4 - 10 901 c.762G>C c.(760-762)ttG>ttC p.L254F NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 254 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AGGGCCTTTTCAAAATGGAAT 0.423000 10 314 0 0 0.058154 0 0 SMC3 9126 broad.mit.edu 37 10 112358023 112358023 + Missense_Mutation SNP A A C TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr10:112358023A>C ENST00000361804.4 + 20 2369 c.2243A>C c.(2242-2244)cAg>cCg p.Q748P NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 748 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AAGAGGCAGCAGTCAGAGAAA 0.333000 99 108 0 0 0.139131 0 0 TECPR1 25851 broad.mit.edu 37 7 97873932 97873932 + Missense_Mutation SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr7:97873932C>T ENST00000447648.2 - 5 781 c.482G>A c.(481-483)cGg>cAg p.R161Q TECPR1_ENST00000542604.1_Missense_Mutation_p.R82Q|TECPR1_ENST00000379795.3_Missense_Mutation_p.R161Q Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 161 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GATCCACTTCCGGCGCCGCAC 0.577000 4 93 0 0 0.150653 0 0 TTLL1 25809 broad.mit.edu 37 22 43459908 43459908 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr22:43459908G>A ENST00000331018.7 - 7 898 c.658C>T c.(658-660)Cgg>Tgg p.R220W TTLL1_ENST00000266254.7_Missense_Mutation_p.R220W O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 220 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) GTGCAGAACCGGCAAAACCCA 0.463000 4 223 0 0 0.150653 0 0 SLC16A13 201232 broad.mit.edu 37 17 6941493 6941493 + Silent SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr17:6941493C>T ENST00000308027.6 + 3 674 c.366C>T c.(364-366)ttC>ttT p.F122F NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 122 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 CTTTGACCTTCGCTCCGACCC 0.587000 48 41 0 0 0.139131 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 8 75 0 0 0.058154 0 0 ZNF516 9658 broad.mit.edu 37 18 74154244 74154244 + Missense_Mutation SNP G G T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr18:74154244G>T ENST00000443185.2 - 3 1084 c.767C>A c.(766-768)gCc>gAc p.A256D ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A256D(2) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTGGCTGAAGGCCTGGCCACA 0.687000 4 44 0.00024832 0.000281117 0.150653 1 0 ACTR8 93973 broad.mit.edu 37 3 53911743 53911743 + Missense_Mutation SNP A A C TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr3:53911743A>C ENST00000335754.3 - 4 541 c.441T>G c.(439-441)atT>atG p.I147M ACTR8_ENST00000482349.1_Missense_Mutation_p.I36M NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 147 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) AGTGATCTAAAATTGCAGGTC 0.393000 72 123 0 0 0.139131 0 0 PKHD1 5314 broad.mit.edu 37 6 51929825 51929825 + Missense_Mutation SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr6:51929825C>T ENST00000371117.3 - 13 1179 c.904G>A c.(904-906)Gtg>Atg p.V302M PKHD1_ENST00000340994.4_Missense_Mutation_p.V302M NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 302 IPT/TIG 3. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTGGGAGACACGTGTCTAATA 0.443000 38 48 0 0 0.086207 0 0 VCAN 1462 broad.mit.edu 37 5 82834109 82834109 + Missense_Mutation SNP A A G TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr5:82834109A>G ENST00000265077.3 + 8 5852 c.5287A>G c.(5287-5289)Aca>Gca p.T1763A VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T776A|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1763 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.T1763A(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAATGTAGCTACATCTAGTGA 0.383000 3 257 0 0 0.115264 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 3 39 0 0 0.014758 0 0 ANK1 286 broad.mit.edu 37 8 41529890 41529890 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr8:41529890G>A ENST00000396942.1 - 38 5161 c.5078C>T c.(5077-5079)aCg>aTg p.T1693M ANK1_ENST00000289734.7_Missense_Mutation_p.T1693M|ANK1_ENST00000352337.4_Missense_Mutation_p.T1693M|ANK1_ENST00000347528.4_Missense_Mutation_p.T1693M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1734M|ANK1_ENST00000379758.2_Missense_Mutation_p.T1693M|ANK1_ENST00000396945.1_Missense_Mutation_p.T1693M P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1693 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTCCTCTCCGTCACCTGACT 0.557000 12 157 0 0 0.105934 0 0 MTHFSD 64779 broad.mit.edu 37 16 86582080 86582080 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr16:86582080G>A ENST00000322911.6 - 4 388 c.338C>T c.(337-339)gCc>gTc p.A113V MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.A114V|MTHFSD_ENST00000360900.6_Missense_Mutation_p.A114V|MTHFSD_ENST00000543303.2_Missense_Mutation_p.A113V|MTHFSD_ENST00000546093.1_5'UTR NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 114 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 CTGAGAGGTGGCACATTTTCT 0.453000 5 291 0 0 0.021553 0 0 KLK4 9622 broad.mit.edu 37 19 51412533 51412533 + Silent SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr19:51412533G>A ENST00000324041.1 - 2 198 c.199C>T c.(199-201)Ctg>Ttg p.L67L KLK4_ENST00000431178.2_Silent_p.L18L NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 67 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GCGGCTGACAGCACCCACTGC 0.647000 4 274 0 0 0.150653 0 0 HEATR2 54919 broad.mit.edu 37 7 796571 796571 + Silent SNP G G T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr7:796571G>T ENST00000297440.6 + 6 1430 c.1410G>T c.(1408-1410)ccG>ccT p.P470P HEATR2_ENST00000313147.5_Silent_p.P470P NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 470 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CCCTCCAGCCGCACCTGGCAG 0.637000 4 33 0.00116845 0.00127467 0.021553 1 0 OPA1 4976 broad.mit.edu 37 3 193384116 193384116 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr3:193384116G>A ENST00000361510.2 + 28 3044 c.2810G>A c.(2809-2811)cGt>cAt p.R937H OPA1_ENST00000361715.2_Missense_Mutation_p.R901H|OPA1_ENST00000361908.3_Missense_Mutation_p.R919H|OPA1_ENST00000361828.2_Missense_Mutation_p.R900H|OPA1_ENST00000392438.3_Missense_Mutation_p.R882H|OPA1_ENST00000361150.2_Missense_Mutation_p.R883H NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 882 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TTGTTTTGGCGTATACAGCGC 0.358000 4 221 0 0 0.021553 0 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 6 406 0 0 0.021553 0 0 OR51F1 256892 broad.mit.edu 37 11 4791095 4791095 + Missense_Mutation SNP C C T TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr11:4791095C>T ENST00000380383.1 - 1 73 c.74G>A c.(73-75)gGc>gAc p.G25D OR51F1_ENST00000343430.3_Missense_Mutation_p.G18D|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 18 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GCCAGGAATGCCGGTCAACAA 0.458000 3 60 0 0 0.150653 0 0 PRX 57716 broad.mit.edu 37 19 40901891 40901891 + Missense_Mutation SNP C C G TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr19:40901891C>G ENST00000324001.7 - 7 2638 c.2368G>C c.(2368-2370)Gaa>Caa p.E790Q PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 790 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTGCCTGTTCTGCCTTGGTG 0.597000 6 205 0 0 0.021553 0 0 RP11-526A4.1 0 broad.mit.edu 37 4 150544871 150544872 + RNA DEL GT GT - rs113908353 TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr4:150544871_150544872delGT ENST00000511993.1 - 0 997 TGAATCCCAGgtgtgtgtgtgt 0.396 3 6 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 65102089 65102092 + RNA DEL GAAA GAAA - rs150892586 by1000genomes TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr8:65102089_65102092delGAAA ENST00000524360.1 - 0 128 RP11-32K4.1_ENST00000520365.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA aggaaggaaggaaagaaggaagga 0.431 4 6 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 3 5 --- --- --- --- LARP4 113251 broad.mit.edu 37 12 50831576 50831580 + Frame_Shift_Del DEL TTGTA TTGTA - TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr12:50831576_50831580delTTGTA ENST00000398473.2 + 6 706_710 c.594_598delTTGTA c.(592-600)cgttfs p.RCI198fs LARP4_ENST00000518444.1_Frame_Shift_Del_p.RCI197fs|LARP4_ENST00000347328.5_Frame_Shift_Del_p.RCI198fs|LARP4_ENST00000522085.1_Frame_Shift_Del_p.RCI198fs|LARP4_ENST00000518561.1_Frame_Shift_Del_p.RCI128fs|LARP4_ENST00000293618.8_Frame_Shift_Del_p.RCI198fs|LARP4_ENST00000429001.3_Frame_Shift_Del_p.RCI204fs NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 198 HTH La-type RNA-binding. nucleotide binding|RNA binding p.R198R(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GTCATAAGCGTTGTATTGTAATTCT 0.332 32 123 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 7 686 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124856836 124856837 + Frame_Shift_Ins INS - - G TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr12:124856836_124856837insG ENST00000356219.3 - 21 2693_2694 c.2538_2539insC c.(2536-2541)cccggcfs p.G847fs NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G847fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G829fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G829fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G400fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G830fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 847 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCCTCAGCCGCGGGGGGCTTCT 0.698 15 68 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22328645 22328646 + RNA INS - - T rs146299092 by1000genomes TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr18:22328645_22328646insT ENST00000582650.1 + 0 235 tccttccttcctccttccctcc 0.485 3 5 --- --- --- --- CTD-2189E23.1 0 broad.mit.edu 37 19 14392048 14392049 + RNA INS - - CCTT rs71164225 TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr19:14392048_14392049insCCTT ENST00000592263.1 - 0 292 ctgcacccagcccttccttcct 0.535 3 3 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 2 4 --- --- --- --- PLP2 5355 broad.mit.edu 37 X 49028442 49028443 + Splice_Site INS - - G TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10dbf5bc-9cb3-4d04-806d-cf0ddcc045be 45c68b6b-0bed-424d-9a77-4f87bbaa3649 g.chrX:49028442_49028443insG ENST00000376327.5 + 1 170_171 c.96_splice c.e1+1 p.N32_splice PLP2_ENST00000376322.3_Splice_Site_p.N32_splice NM_002668.2 NP_002659.1 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic epithelium-enriched) 32 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3) 13 TTTGCTGAGATTGTGAGCGTTC 0.653 13 9 --- --- --- ---