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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MXRA5 25878 broad.mit.edu 37 X 3228915 3228915 + Silent SNP G A A rs41310268 TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chrX:3228915G>A uc004crg.4 - 6 7486 c.7329C>T c.(7327-7329)aaC>aaT p.N2443N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2443 Ig-like C2-type 9. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGGGTTACCGTTGATCTTGG 0.587000 5 17 0 0 1.64113e-05 0 0 UNC45A 55898 broad.mit.edu 37 15 91485678 91485679 + Missense_Mutation DNP CC AA AA TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr15:91485678_91485679CC>AA uc002bqg.3 + 6 1039_1040 c.699_700CC>AA c.(697-702)accctg>acAAtg p.L234M UNC45A_uc002bqd.3_Missense_Mutation_p.L219M|UNC45A_uc010uqo.1_Missense_Mutation_p.L226M|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L234M NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 234 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CAGTGGCAACCCTGAGCATACT 0.564000 428 9 0 0 6.4e-05 0 0 BROX 148362 broad.mit.edu 37 1 222903487 222903488 + Missense_Mutation DNP CC AA AA TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr1:222903487_222903488CC>AA uc001hnq.1 + 10 1352_1353 c.957_958CC>AA c.(955-960)acccta>acAAta p.L320I BROX_uc010put.1_Missense_Mutation_p.L288I|BROX_uc010puu.1_Missense_Mutation_p.L320I|BROX_uc010puv.1_Missense_Mutation_p.L288I|AK094916_uc001hnr.1_Splice_Site|AK025140_uc001hns.1_5'Flank NM_144695 NP_653296 Q5VW32 BROX_HUMAN Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA. 320 BRO1. membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 TGAAGAACACCCTAGAAAAATG 0.307000 237 9 0 0 6.4e-05 0 0 DIO3 1735 broad.mit.edu 37 14 102028063 102028063 + Missense_Mutation SNP G T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr14:102028063G>T uc021sdx.1 + 0 376 c.230G>T c.(229-231)cGg>cTg p.R77L DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 51 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CGCCGCCGCCGGGGGCAGCCC 0.657000 49 16 4.7546e-09 3.27194e-07 3.45872e-05 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907292 164907292 + Missense_Mutation SNP G A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr3:164907292G>A uc003fej.4 - 1 1771 c.1327C>T c.(1327-1329)Cgt>Tgt p.R443C SLITRK3_uc003fek.3_Missense_Mutation_p.R443C|SLITRK3_uc021xgy.1_Missense_Mutation_p.R443C NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 443 integral to membrane p.R443S(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TAGGAAATACGATTGTTCCCC 0.408000 HNSCC(40;0.11) 5 22 0 0 4.16121e-05 0 0 LYG1 129530 broad.mit.edu 37 2 99909082 99909082 + Missense_Mutation SNP C A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr2:99909082C>A uc010yvo.2 - 4 395 c.65G>T c.(64-66)tGg>tTg p.W22L MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Missense_Mutation_p.W22L NM_174898 NP_777558 Q8N1E2 LYG1_HUMAN Homo sapiens lysozyme G-like 1 (LYG1), mRNA. 22 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 ATAGCATCCCCAGTTGCTGCT 0.448000 25 24 1.10923e-09 7.95814e-08 4.16121e-05 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 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 46 32 0 0 7.24521e-05 0 0 FCHSD2 9873 broad.mit.edu 37 11 72553733 72553734 + Missense_Mutation DNP GG TT TT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr11:72553733_72553734GG>TT uc009ytl.3 - 16 2079_2080 c.1858_1859CC>AA c.(1858-1860)cca>AAa p.P620K FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR NM_014824 NP_055639 O94868 FCSD2_HUMAN Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA. 620 SH3 2. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TAGCACCGATGGGAAAACTCCA 0.441000 633 10 0 0 6.4e-05 0 0 OR1J4 26219 broad.mit.edu 37 9 125281593 125281593 + Silent SNP C A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr9:125281593C>A uc011lyw.2 + 0 174 c.174C>A c.(172-174)ccC>ccA p.P58P NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TTCACACCCCCATGTTCTTCT 0.507000 106 46 1.32667e-27 9.94118e-26 0.000147903 1 0 SRRM2 23524 broad.mit.edu 37 16 2814690 2814691 + Missense_Mutation DNP CC AA AA rs78949014 byFrequency TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr16:2814690_2814691CC>AA uc002crk.3 + 10 4710_4711 c.4161_4162CC>AA c.(4159-4164)tcccca>tcAAca p.P1388T SRRM2_uc002crj.1_Missense_Mutation_p.P1292T|SRRM2_uc002crl.1_Missense_Mutation_p.P1388T|SRRM2_uc010bsu.1_Missense_Mutation_p.P1292T NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1388 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding p.P1388T(2) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTGAGTTATCCCCAGATGCAGT 0.450000 284 8 0 0 6.4e-05 0 0 FARS2 10667 broad.mit.edu 37 6 5771581 5771581 + Silent SNP G T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr6:5771581G>T uc010jnv.1 + 6 1611 c.1275G>T c.(1273-1275)ctG>ctT p.L425L FARS2_uc003mwr.2_Silent_p.L425L NM_006567 NP_006558 O95363 SYFM_HUMAN Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. 425 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) AACGGACTCTGTCCCAGAGAG 0.582000 58 48 1.30409e-13 9.55955e-12 0.000147903 1 0 ECM2 1842 broad.mit.edu 37 9 95279998 95279998 + Missense_Mutation SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr9:95279998C>T uc011lty.2 - 2 639 c.452G>A c.(451-453)gGg>gAg p.G151E CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G151E|ECM2_uc004asg.3_Missense_Mutation_p.G151E|ECM2_uc011ltz.1_Missense_Mutation_p.G151E|ECM2_uc004asi.3_Missense_Mutation_p.G151E NM_001393 NP_001384 O94769 ECM2_HUMAN Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA. 151 VWFC. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 GCAGCATTCCCCTTCAGGTAT 0.463000 88 101 0 0 0.000147903 0 0 MOCS1 4337 broad.mit.edu 37 6 39874786 39874786 + Missense_Mutation SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr6:39874786C>T uc003opb.3 - 9 1396 c.1258G>A c.(1258-1260)Gtg>Atg p.V420M MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Missense_Mutation_p.V317M NM_005943 NP_005934 Q9NZB8 MOCS1_HUMAN Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA. 420 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) AAAGTGGCCACCTGGCTGGAG 0.567000 73 19 0 0 0.000132079 0 0 KCNIP4 80333 broad.mit.edu 37 4 20736327 20736328 + Missense_Mutation DNP CG AT AT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr4:20736327_20736328CG>AT uc021xmt.1 - 5 580_581 c.460_461CG>AT c.(460-462)cgg>ATg p.R154M KCNIP4_uc003gqe.2_Missense_Mutation_p.R137M|KCNIP4_uc003gqf.1_Missense_Mutation_p.R133M|KCNIP4_uc003gqg.1_Missense_Mutation_p.R92M|KCNIP4_uc003gqh.1_Missense_Mutation_p.R129M|KCNIP4_uc003gqi.1_Missense_Mutation_p.R92M|KCNIP4_uc021xmu.1_Missense_Mutation_p.R120M|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.R117M NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 154 EF-hand 2. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TACTGTCCCCCGGAGCAAAATG 0.312000 227 6 0 0 6.4e-05 0 0 OCEL1 79629 broad.mit.edu 37 19 17337903 17337903 + Missense_Mutation SNP T C C TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr19:17337903T>C uc002nfp.3 + 2 349 c.347T>C c.(346-348)tTt>tCt p.F116S NM_024578 NP_078854 Q9H607 OCEL1_HUMAN Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA. 116 central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2) 7 AAGATTGTGTTTGAGGATGAG 0.642000 62 52 0 0 0.000147903 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102548661 102548662 + Missense_Mutation DNP CC AA AA rs11547532 TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr14:102548661_102548662CC>AA uc001yku.4 - 9 2065_2066 c.1875_1876GG>TT c.(1873-1878)atgggt>atTTgt p.625_626MG>IC HSP90AA1_uc001ykv.4_Missense_Mutation_p.747_748MG>IC NM_005348 NP_005339 P07900 HS90A_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA. 625 G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GCCATGTAACCCATTGTTGAGT 0.446000 247 7 0 0 6.4e-05 0 0 PSD2 84249 broad.mit.edu 37 5 139219689 139219689 + Silent SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr5:139219689C>T uc003leu.1 + 13 2251 c.2046C>T c.(2044-2046)gtC>gtT p.V682V NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 682 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCACCCAGTCGAGAGGGGCA 0.567000 50 21 0 0 2.27731e-05 0 0 MARCH9 92979 broad.mit.edu 37 12 58151945 58151945 + Silent SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr12:58151945C>T uc001spx.2 + 2 999 c.568C>T c.(568-570)Ctg>Ttg p.L190L MARCH9_uc001spy.3_Silent_p.L77L NM_138396 NP_612405 Q86YJ5 MARH9_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA. 190 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) TGCCATAGTTCTGGGCTCGCT 0.567000 38 17 0 0 5.01169e-05 0 0 RRBP1 6238 broad.mit.edu 37 20 17595518 17595518 + Missense_Mutation SNP A T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr20:17595518A>T uc002wpw.1 - 23 3036 c.2759T>A c.(2758-2760)cTa>cAa p.L920Q RRBP1_uc010zrp.1_Missense_Mutation_p.L93Q|RRBP1_uc002wpt.1_Missense_Mutation_p.L290Q|RRBP1_uc002wpu.3_Missense_Mutation_p.L694Q|RRBP1_uc010gcl.1_Missense_Mutation_p.L694Q|RRBP1_uc002wpv.1_Missense_Mutation_p.L920Q NM_004587 NP_004578 Q9P2E9 RRBP1_HUMAN Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA. 1353 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CTCTTTTTCTAGTCTCTCCTG 0.612000 77 18 0 0 4.16121e-05 0 0 NCAPD2 9918 broad.mit.edu 37 12 6619925 6619925 + Missense_Mutation SNP T G G TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr12:6619925T>G uc001qoo.2 + 4 439 c.393T>G c.(391-393)ttT>ttG p.F131L NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Missense_Mutation_p.F86L NM_014865 NP_055680 Q15021 CND1_HUMAN Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA. 131 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TGGAATCCTTTGAGACCATGG 0.478000 119 39 0 0 0.000147903 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116176 15116176 + Missense_Mutation SNP G A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr3:15116176G>A uc003bzm.1 - 13 2082 c.1468C>T c.(1468-1470)Cgg>Tgg p.R490W ZFYVE20_uc010hek.1_Missense_Mutation_p.R490W NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA. 490 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TGCAGCTGCCGCAGGTTCTCC 0.622000 125 56 0 0 0.000147903 0 0 FAT3 120114 broad.mit.edu 37 11 92086378 92086379 + Missense_Mutation DNP CC AA AA TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr11:92086378_92086379CC>AA uc001pdj.4 + 0 1117_1118 c.1100_1101CC>AA c.(1099-1101)ccc>cAA p.P367Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 367 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTGGCAACCCCACAAGAGACA 0.421000 TCGA Ovarian(4;0.039) 505 13 0 0 6.4e-05 0 0 BLM 641 broad.mit.edu 37 15 91308573 91308574 + Missense_Mutation DNP GG TT TT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr15:91308573_91308574GG>TT uc002bpr.3 + 8 2219_2220 c.2122_2123GG>TT c.(2122-2124)ggg>TTg p.G708L BLM_uc010uqh.2_Missense_Mutation_p.G708L|BLM_uc010uqi.2_Missense_Mutation_p.G333L|BLM_uc010bnx.3_Missense_Mutation_p.G708L NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 708 Helicase ATP-binding. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGTTTCTCCTGGGGTCACTGTT 0.401000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 611 9 0 0 6.4e-05 0 0 BPIFA3 128861 broad.mit.edu 37 20 31811717 31811717 + Silent SNP G T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr20:31811717G>T uc002wyr.3 + 1 436 c.228G>T c.(226-228)ctG>ctT p.L76L BPIFA3_uc002wys.3_Silent_p.L76L NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA. 76 extracellular region lipid binding CCCCAGGGCTGGTGGGCTGGC 0.537000 59 17 1.15088e-07 7.76152e-06 3.45872e-05 1 0 LRP6 4040 broad.mit.edu 37 12 12303861 12303862 + Missense_Mutation DNP CG AT AT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr12:12303861_12303862CG>AT uc001rah.4 - 12 3044_3045 c.2902_2903CG>AT c.(2902-2904)cgg>ATg p.R968M BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R968M NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 968 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity p.R968L(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GTCAATGGCCCGGACATTCCGA 0.490000 621 13 0 0 6.4e-05 0 0 CRHBP 1393 broad.mit.edu 37 5 76254687 76254688 + Nonsense_Mutation DNP GG TT TT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr5:76254687_76254688GG>TT uc003ker.3 + 4 946_947 c.666_667GG>TT c.(664-669)ctggga>ctTTga p.G223* CRHBP_uc010izx.3_Nonsense_Mutation_p.G223* NM_001882 NP_001873 P24387 CRHBP_HUMAN Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA. 223 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) ATCTTACCCTGGGACACGTAAA 0.416000 445 11 0 0 6.4e-05 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146825823 146825823 + Missense_Mutation SNP C G G TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr7:146825823C>G uc003weu.2 + 6 1494 c.978C>G c.(976-978)agC>agG p.S326R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 326 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCAAGCCCAGCTCCAGCAGTA 0.398000 HNSCC(39;0.1) 125 26 0 0 7.16444e-05 0 0 OR4N5 390437 broad.mit.edu 37 14 20612115 20612115 + Missense_Mutation SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr14:20612115C>T uc010tla.2 + 0 221 c.221C>T c.(220-222)tCc>tTc p.S74F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCATCCTACTCCTTCATTGTG 0.458000 146 109 0 0 0.000147903 0 0 HPS5 11234 broad.mit.edu 37 11 18332943 18332943 + Missense_Mutation SNP A G G TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr11:18332943A>G uc001mod.1 - 3 553 c.275T>C c.(274-276)gTa>gCa p.V92A HPS5_uc001moe.1_5'UTR|HPS5_uc001mof.1_5'UTR NM_181507 NP_852609 Q9UPZ3 HPS5_HUMAN Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA. 92 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CCTGGTAGCTACAGCAACATA 0.353000 Hermansky-Pudlak syndrome 48 11 0 0 6.40141e-05 0 0 UBA3 9039 broad.mit.edu 37 3 69126959 69126959 + Missense_Mutation SNP G A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr3:69126959G>A uc003dno.3 - 2 193 c.173C>T c.(172-174)cCg>cTg p.P58L UBA3_uc003dnq.3_Missense_Mutation_p.P44L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_5'UTR NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA. 58 Interaction with UBE2M N-terminus. protein neddylation|proteolysis nucleus ATP binding|acid-amino acid ligase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) TTCAGTGCTCGGTTCGAAATC 0.413000 455 19 0 0 2.27731e-05 0 0 CCNE2 9134 broad.mit.edu 37 8 95893938 95893939 + Missense_Mutation DNP CC AA AA TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr8:95893938_95893939CC>AA uc003yhc.3 - 11 1240_1241 c.1136_1137GG>TT c.(1135-1137)ggg>gTT p.G379V NM_057749 NP_477097 O96020 CCNE2_HUMAN Homo sapiens cyclin E2 (CCNE2), mRNA. 379 G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) ACAACTGTCCCCCTTTTCTGAA 0.401000 681 13 0 0 6.4e-05 0 0 BLK 640 broad.mit.edu 37 8 11400840 11400840 + Missense_Mutation SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr8:11400840C>T uc003wty.3 + 1 688 c.107C>T c.(106-108)cCg>cTg p.P36L NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 36 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AAGGACGCCCCGCCACTGCCG 0.532000 24 14 0 0 3.45872e-05 0 0 DSCAML1 57453 broad.mit.edu 37 11 117329513 117329513 + Silent SNP G A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr11:117329513G>A uc001prh.1 - 18 3707 c.3705C>T c.(3703-3705)gaC>gaT p.D1235D NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1175 Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGCGTACGCCGTCCCCAGCCT 0.642000 13 7 0 0 8.12818e-05 0 0 CDR1 1038 broad.mit.edu 37 X 139866322 139866322 + Silent SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chrX:139866322C>T uc004fbg.1 - 0 402 c.210G>A c.(208-210)tcG>tcA p.S70S AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 70 23 X 6 AA approximate repeats. p.S70S(2) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCATAGCTTCCGAAAAATCCA 0.458000 13 62 0 0 0.000147903 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224482 44224482 + Missense_Mutation SNP A C C TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr6:44224482A>C uc003oxd.3 - 1 281 c.145T>G c.(145-147)Ttt>Gtt p.F49V SLC35B2_uc011dvt.2_Silent_p.A3A|SLC35B2_uc011dvu.2_Intron|SLC35B2_uc021yzy.1_5'Flank NM_178148 NP_835361 Q8TB61 S35B2_HUMAN Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA. 49 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGTACCATAAAGCTGGCATAG 0.582000 97 73 0 0 0.000147903 0 0 BEX2 84707 broad.mit.edu 37 X 102564760 102564760 + Missense_Mutation SNP G A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chrX:102564760G>A uc004eka.3 - 2 599 c.241C>T c.(241-243)Cct>Tct p.P81S BEX2_uc022cbn.1_Missense_Mutation_p.P80S|BEX2_uc022cbo.1_Missense_Mutation_p.P49S|BEX2_uc004ekb.3_Missense_Mutation_p.P49S|BEX2_uc022cbp.1_Missense_Mutation_p.P49S NM_001168399 NP_116010 Q9BXY8 BEX2_HUMAN Homo sapiens brain expressed X-linked 2 (BEX2), transcript variant 1, mRNA. 49 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus endometrium(1)|lung(1)|ovary(1) 3 TTTCCTCTAGGCACACAGTAT 0.473000 38 13 0 0 0.00010058 0 0 CIITA 4261 broad.mit.edu 37 16 11000359 11000359 + Missense_Mutation SNP C T T rs147670132 TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr16:11000359C>T uc002daj.4 + 10 1146 c.1013C>T c.(1012-1014)cCg>cTg p.P338L CIITA_uc002dai.4_Missense_Mutation_p.P337L|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.P337L|CIITA_uc002dah.2_Missense_Mutation_p.P289L|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 337 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TTTGCAGAGCCGGTGGAGCAG 0.642000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 21 12 0 0 0.000151284 0 0 VPS13D 55187 broad.mit.edu 37 1 12520332 12520332 + Silent SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr1:12520332C>T uc001atv.3 + 66 12684 c.12543C>T c.(12541-12543)ttC>ttT p.F4181F VPS13D_uc001atw.3_Silent_p.F4156F|VPS13D_uc001atx.3_Silent_p.F3368F|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Silent_p.F179F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 4180 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCAGCGGTTTCATATCTGGCC 0.507000 9 46 0 0 0.000147903 0 0 ZNF219 51222 broad.mit.edu 37 14 21559287 21559287 + Missense_Mutation SNP T C C TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr14:21559287T>C uc001vzr.2 - 4 1998 c.1577A>G c.(1576-1578)tAc>tGc p.Y526C ZNF219_uc001vzs.2_Missense_Mutation_p.Y526C|ZNF219_uc010aik.1_Missense_Mutation_p.Y526C NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA. 526 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) CGGACACTTGTAGGGCCGCTC 0.657000 11 5 0 0 3.59834e-05 0 0 IBA57 200205 broad.mit.edu 37 1 228362441 228362441 + Missense_Mutation SNP C A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr1:228362441C>A uc001hsl.4 + 1 479 c.390C>A c.(388-390)agC>agA p.S130R IBA57_uc010pvw.2_5'UTR NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA. 130 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity p.S130R(4) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 AGTGTGACAGCTCGGTGCAGG 0.662000 21 6 2.0095e-06 0.000132863 8.12818e-05 1 0 C4BPA 722 broad.mit.edu 37 1 207304923 207304923 + Missense_Mutation SNP G A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr1:207304923G>A uc001hfo.3 + 7 1116 c.922G>A c.(922-924)Gct>Act p.A308T NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 308 Sushi 5. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CATTCCACATGCTTCCTGGGA 0.428000 27 22 0 0 0.000117367 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2908679 2908680 + Missense_Mutation DNP GG TT TT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr17:2908679_2908680GG>TT uc010ckd.3 + 14 1307_1308 c.1217_1218GG>TT c.(1216-1218)cgg>cTT p.R406L RAP1GAP2_uc010cke.3_Missense_Mutation_p.R391L NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 406 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity p.R406>?(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GTCACTGCGCGGGAAGATGTGC 0.594000 198 8 0 0 6.4e-05 0 0 DPYD 1806 broad.mit.edu 37 1 98058935 98058935 + Missense_Mutation SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr1:98058935C>T uc001drv.3 - 9 1104 c.967G>A c.(967-969)Gcc>Acc p.A323T NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 323 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity p.A323P(2)|p.A323D(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GAGTGACAGGCGCACATTCCT 0.453000 27 13 0 0 1.49906e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T C C rs143761036 by1000genomes TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr20:29625875T>C uc010ztl.1 + 1 61 c.29T>C c.(28-30)aTc>aCc p.I10T FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.I40T(4)|p.T10T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 99 5 0 0 8.12818e-05 0 0 DLEC1 9940 broad.mit.edu 37 3 38127768 38127769 + Missense_Mutation DNP GG TT TT TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr3:38127768_38127769GG>TT uc003chp.1 + 8 1493_1494 c.1472_1473GG>TT c.(1471-1473)ggg>gTT p.G491V DLEC1_uc003cho.1_Missense_Mutation_p.G491V|DLEC1_uc010hgv.1_Missense_Mutation_p.G491V|DLEC1_uc010hgw.1_Missense_Mutation_p.G132V|DLEC1_uc003chq.1_Intron NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 491 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TGCCTCATTGGGGGAGTCAAGA 0.480000 379 11 0 0 6.4e-05 0 0 BACE2 25825 broad.mit.edu 37 21 42540500 42540500 + Missense_Mutation SNP A C C TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr21:42540500A>C uc002yyw.3 + 0 773 c.310A>C c.(310-312)Aag>Cag p.K104Q BACE2_uc002yyx.3_Missense_Mutation_p.K104Q|BACE2_uc002yyy.3_Missense_Mutation_p.K104Q NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA. 104 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CCCCCCGCAGAAGGTAGGGAC 0.697000 3 5 0 0 3.59834e-05 0 0 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Splice_Site SNP C T T TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr12:122812709C>T uc001ucg.2 - 17 3189 c.3034_splice c.e17-1 p.E1012_splice CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice NM_001247997 NP_001234926 P30622 CLIP1_HUMAN Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA. 1012 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding p.E1001K(1) NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATTTTCTTTTCCTGCAGAGAC 0.493000 80 16 0 0 3.10358e-05 0 0 MAMDC4 158056 broad.mit.edu 37 9 139751928 139751929 + Frame_Shift_Ins INS - A A TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr9:139751928_139751929insA uc004cjs.3 + 17 2266_2267 c.2216_2217insA c.(2215-2217)tcafs p.S739fs MAMDC4_uc011mej.2_Frame_Shift_Ins_p.S76fs NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN Homo sapiens MAM domain containing 4 (MAMDC4), mRNA. 818 MAM 4. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TTTGAGGACTCAGACTGCGGCT 0.673 --- 52 --- --- 11 --- FBRS 64319 broad.mit.edu 37 16 30680211 30680212 + Frame_Shift_Ins INS - C C TCGA-EB-A24C-01A-11D-A197-08 TCGA-EB-A24C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03 1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99 g.chr16:30680211_30680212insC uc002dzd.4 + 10 980_981 c.717_718insC c.(715-720)cggcccfs p.R239fs FBRS_uc002dzc.4_Frame_Shift_Ins_p.R151fs NM_001105079 NP_001098549 Q9HAH7 FBRS_HUMAN Homo sapiens fibrosin (FBRS), mRNA. 239 ovary(1) 1 Colorectal(24;0.103) CCTGGGTCCGGCCCCCTGAGGC 0.693 --- 8 --- --- 10 ---