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 LRRC7 57554 broad.mit.edu 37 1 70502287 70502287 + Silent SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr1:70502287T>C ENST00000310961.5 + 21 2587 c.2169T>C c.(2167-2169)caT>caC p.H723H LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.H718H Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 718 centrosome|focal adhesion|nucleolus protein binding p.H718H(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATGCAGTACATAATTCTTTGT 0.413 7 169 --- --- --- --- NOTCH2NL 388677 broad.mit.edu 37 1 145273385 145273385 + Missense_Mutation SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr1:145273385G>A ENST00000369340.3 + 4 683 c.239G>A c.(238-240)gGc>gAc p.G80D NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 80 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding p.G80D(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 CTGAATGGCGGCACATGCCAT 0.532 7 493 --- --- --- --- HRNR 388697 broad.mit.edu 37 1 152191256 152191256 + Missense_Mutation SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr1:152191256C>T ENST00000368801.2 - 3 2924 c.2849G>A c.(2848-2850)gGc>gAc p.G950D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 950 keratinization calcium ion binding|protein binding p.G950D(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACCTGAGCCAGATCCATG 0.547 265 245 --- --- --- --- DNMT3A 1788 broad.mit.edu 37 2 25469138 25469138 + Nonsense_Mutation SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr2:25469138C>T ENST00000264709.3 - 11 1657 c.1320G>A c.(1318-1320)tgG>tgA p.W440* DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 440 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.W440*(1)|p.W251*(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGTTCCACCCACATGTCCG 0.547 """Mis, F, N, S""" AML 61 146 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28117448 28117448 + Nonsense_Mutation SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr2:28117448C>T ENST00000344773.2 + 2 163 c.25C>T c.(25-27)Cga>Tga p.R9* BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000342045.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 9 apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding p.R9*(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) GGCCTTGAACCGAATATCTCC 0.418 80 268 --- --- --- --- GOLGB1 2804 broad.mit.edu 37 3 121413151 121413151 + Silent SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr3:121413151T>C ENST00000393667.3 - 13 6329 c.6219A>G c.(6217-6219)gaA>gaG p.E2073E GOLGB1_ENST00000340645.5_Silent_p.E2068E NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2068 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.E2068E(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTTTGCGGTGTTCAACTGCTT 0.403 4 317 --- --- --- --- BCL6 604 broad.mit.edu 37 3 187451335 187451335 + Silent SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr3:187451335G>A ENST00000406870.2 - 3 513 c.147C>T c.(145-147)gtC>gtT p.V49V RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000450123.2_Silent_p.V49V NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 49 BTB. negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V49V(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) AGGCCATGAGGACCGTTTTAT 0.507 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 11 190 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85603587 85603587 + Missense_Mutation SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr4:85603587G>A ENST00000322366.6 - 63 10119 c.9712C>T c.(9712-9714)Cca>Tca p.P3238S WDFY3_ENST00000295888.4_Missense_Mutation_p.P3255S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3255 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.P3255S(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCAGGAGCTGGTGTTTCAGGA 0.318 21 75 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80513248 80513248 + Missense_Mutation SNP A A C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr5:80513248A>C ENST00000265080.4 + 25 3575 c.3508A>C c.(3508-3510)Aac>Cac p.N1170H CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 1170 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.N1170H(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AGGAACACCAAACTTTACTGA 0.403 13 217 --- --- --- --- SLC25A27 9481 broad.mit.edu 37 6 46623671 46623671 + Silent SNP C C A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr6:46623671C>A ENST00000371347.5 + 2 450 c.198C>A c.(196-198)gcC>gcA p.A66A SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Silent_p.A66A NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 66 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane p.A66A(1) central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GAGAATCTGCCCCCTATAGGG 0.502 4 140 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48315047 48315047 + Silent SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr7:48315047C>T ENST00000435803.1 + 17 5808 c.5784C>T c.(5782-5784)gtC>gtT p.V1928V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1928 transport integral to membrane ATP binding|ATPase activity p.V1928V(2)|p.V1873V(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TACCGTTTGTCCCACCTTCAA 0.363 88 250 --- --- --- --- LRRC17 10234 broad.mit.edu 37 7 102574825 102574825 + Missense_Mutation SNP G G C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr7:102574825G>C ENST00000249377.4 + 2 746 c.465G>C c.(463-465)ttG>ttC p.L155F FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L155F|FBXL13_ENST00000436908.1_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 155 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space p.L155F(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 CACCTCTCTTGAGCTACCTGC 0.458 41 120 --- --- --- --- ADAMTS13 11093 broad.mit.edu 37 9 136324223 136324223 + Missense_Mutation SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr9:136324223G>A ENST00000371929.3 + 29 4649 c.4205G>A c.(4204-4206)cGg>cAg p.R1402Q ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1402 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding p.R1402Q(2) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCCAGCCTGCGGGGCCAGTAC 0.587 7 26 --- --- --- --- SUPV3L1 6832 broad.mit.edu 37 10 70940278 70940278 + Silent SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr10:70940278C>T ENST00000359655.4 + 1 291 c.231C>T c.(229-231)gaC>gaT p.D77D SUPV3L1_ENST00000483572.1_3'UTR NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 77 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding p.D77D(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCAGCGCCGACGGCGACGTCG 0.652 31 78 --- --- --- --- IFIT1 3434 broad.mit.edu 37 10 91162072 91162072 + Missense_Mutation SNP C C A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr10:91162072C>A ENST00000371804.3 + 2 207 c.40C>A c.(40-42)Ctg>Atg p.L14M IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron NM_001270927.1|NM_001548.4 NP_001257856.1|NP_001539.3 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 14 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding p.L14M(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 CAAGGATAGTCTGGAGCAATT 0.353 17 144 --- --- --- --- OR4A15 81328 broad.mit.edu 37 11 55135714 55135714 + Missense_Mutation SNP A A T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr11:55135714A>T ENST00000314706.3 + 1 355 c.355A>T c.(355-357)Acc>Tcc p.T119S NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T119S(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TGAGAAAAAGACCATTTCCTT 0.388 11 364 --- --- --- --- ATM 472 broad.mit.edu 37 11 108180931 108180931 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr11:108180931T>C ENST00000278616.4 + 39 6192 c.5807T>C c.(5806-5808)tTa>tCa p.L1936S ATM_ENST00000452508.2_Missense_Mutation_p.L1936S|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1936 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.L1936S(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGGCTGGATTTAAATTATCTA 0.318 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 37 91 --- --- --- --- USP28 57646 broad.mit.edu 37 11 113704218 113704218 + Nonsense_Mutation SNP G G C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr11:113704218G>C ENST00000003302.4 - 7 751 c.683C>G c.(682-684)tCa>tGa p.S228* USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228* NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 228 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S228*(2) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TTTTCTATTTGATCCCATCAT 0.383 5 123 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80750271 80750271 + Missense_Mutation SNP C C G TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr12:80750271C>G ENST00000458043.2 + 47 5861 c.5855C>G c.(5854-5856)cCt>cGt p.P1952R OTOGL_ENST00000547103.1_Missense_Mutation_p.P1940R|OTOGL_ENST00000546620.1_5'UTR NM_173591.3 NP_775862.3 otogelin-like p.P395A(2)|p.P1952R(1)|p.P317R(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GGCCACAGTCCTCTTTCTTGC 0.328 22 99 --- --- --- --- ISCU 23479 broad.mit.edu 37 12 108958127 108958127 + Missense_Mutation SNP C C A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr12:108958127C>A ENST00000535729.1 + 2 209 c.187C>A c.(187-189)Ctg>Atg p.L63M ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|ISCU_ENST00000311893.9_Missense_Mutation_p.L63M|ISCU_ENST00000338291.4_Missense_Mutation_p.L38M Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme 63 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold p.L38M(1) kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1) 11 TGGAACTGGACTGGTGGGGGC 0.373 22 78 --- --- --- --- MYH7 4625 broad.mit.edu 37 14 23885344 23885344 + Missense_Mutation SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr14:23885344G>A ENST00000355349.3 - 34 4984 c.4822C>T c.(4822-4824)Cgc>Tgc p.R1608C NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1608 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1608C(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCCTCGTTGCGGCTGCGTGTC 0.622 58 118 --- --- --- --- NUMB 8650 broad.mit.edu 37 14 73743464 73743464 + Missense_Mutation SNP T T G TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr14:73743464T>G ENST00000556772.1 - 7 3633 c.1346A>C c.(1345-1347)gAt>gCt p.D449A NUMB_ENST00000355058.3_Missense_Mutation_p.D593A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A P49757 NUMB_HUMAN numb homolog (Drosophila) 593 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane p.D593A(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CCTGCCATCATCTACACCATT 0.527 17 36 --- --- --- --- EML5 161436 broad.mit.edu 37 14 89168815 89168815 + Missense_Mutation SNP A A G TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr14:89168815A>G ENST00000554922.1 - 14 2461 c.2213T>C c.(2212-2214)tTg>tCg p.L738S EML5_ENST00000380664.5_Missense_Mutation_p.L738S|EML5_ENST00000352093.5_Missense_Mutation_p.L738S NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 738 cytoplasm|microtubule p.L738S(2) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GTAGTCTTTCAAAGGATGAAT 0.388 8 58 --- --- --- --- DMXL2 23312 broad.mit.edu 37 15 51750826 51750826 + Splice_Site SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr15:51750826T>C ENST00000251076.5 - 35 8298 c.e35-2 RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000543779.2_Splice_Site NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 cell junction|synaptic vesicle membrane Rab GTPase binding p.?(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ACAATTTGCCTATAAAGCAAA 0.348 32 79 --- --- --- --- UACA 55075 broad.mit.edu 37 15 70960502 70960502 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr15:70960502T>C ENST00000322954.6 - 16 2706 c.2521A>G c.(2521-2523)Ata>Gta p.I841V UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 841 cytoskeleton|extracellular region p.I828V(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 AGAGCGTGTATTTTCTCCTGG 0.348 38 162 --- --- --- --- LRRC49 54839 broad.mit.edu 37 15 71305231 71305231 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr15:71305231T>C ENST00000260382.5 + 14 1942 c.1682T>C c.(1681-1683)aTt>aCt p.I561T LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 561 cytoplasm|microtubule p.I561T(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TATCGTCTGATTTCCATTCTG 0.373 44 146 --- --- --- --- ZNF629 23361 broad.mit.edu 37 16 30794780 30794780 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr16:30794780T>C ENST00000262525.4 - 3 1076 c.869A>G c.(868-870)tAc>tGc p.Y290C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y290C(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GGGGCACTTGTAGGGTTTCTC 0.647 3 70 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15995320 15995320 + Missense_Mutation SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr17:15995320G>A ENST00000268712.3 - 22 3130 c.2873C>T c.(2872-2874)gCt>gTt p.A958V NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V|NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 958 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.A958V(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGGTAGAGAGCATAGCCGCT 0.428 4 166 --- --- --- --- UBB 7314 broad.mit.edu 37 17 16285790 16285790 + Missense_Mutation SNP C C A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr17:16285790C>A ENST00000302182.3 + 2 961 c.569C>A c.(568-570)cCc>cAc p.P190H RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.P190H|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.P114H|UBB_ENST00000395839.1_Missense_Mutation_p.P190H NM_001281720.1|NM_018955.3 NP_001268649.1|NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 190 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P190H(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) GGCATCCCCCCCGACCAGCAG 0.552 3 80 --- --- --- --- HOXB13 10481 broad.mit.edu 37 17 46804355 46804355 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr17:46804355T>C ENST00000290295.7 - 2 1236 c.652A>G c.(652-654)Aag>Gag p.K218E NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 218 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K218E(1) endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 ATGCGTTTCTTGCGGCCGCGA 0.622 20 67 --- --- --- --- SEC14L1 6397 broad.mit.edu 37 17 75205504 75205504 + Silent SNP C C G TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr17:75205504C>G ENST00000413679.2 + 14 1860 c.1557C>G c.(1555-1557)ctC>ctG p.L519L SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470|NP_001137471|NP_002994 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 519 transport Golgi apparatus|integral to membrane binding p.L519L(1) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 ACCTGAAGCTCTGGACTGAGA 0.587 9 30 --- --- --- --- ZNF492 57615 broad.mit.edu 37 19 22836775 22836775 + Missense_Mutation SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr19:22836775C>T ENST00000456783.2 + 3 332 c.88C>T c.(88-90)Cct>Tct p.P30S NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P30S(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AGGAAAAGAACCTTGGAATGT 0.423 42 102 --- --- --- --- CEACAM6 4680 broad.mit.edu 37 19 42260828 42260828 + Missense_Mutation SNP C C A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr19:42260828C>A ENST00000199764.6 + 2 603 c.385C>A c.(385-387)Ctt>Att p.L129I CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 129 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane p.L129I(1) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AAAGTCAGATCTTGTGAATGA 0.473 6 480 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99551705 99551705 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chrX:99551705T>C ENST00000373034.4 - 6 4692 c.3017A>G c.(3016-3018)gAc>gGc p.D1006G PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1006 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D1006G(1)|p.D459G(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GCCGCAGTCGTCATAAGCCTC 0.577 3 52 --- --- --- --- MIR4485 100616263 broad.mit.edu 37 M 3031 3031 + RNA SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chrM:3031G>A ENST00000387347.2 + 0 1361 NR_039705.1 GCCGCTATTAAAGGTTCGTTT 0.448 4 0 --- --- --- --- MT-CO2 4513 broad.mit.edu 37 M 7854 7854 + Missense_Mutation SNP T T C TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chrM:7854T>C ENST00000361739.1 + 1 269 c.269T>C c.(268-270)gTc>gCc p.V90A mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 AACAGACGAGGTCAACGATCC 0.498 4 2 --- --- --- --- SCAMP1 9522 broad.mit.edu 37 5 77755186 77755186 + Splice_Site DEL G G - TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr5:77755186delG ENST00000538629.1 + 8 1009 c.e8+1 SCAMP1_ENST00000339292.4_Splice_Site NM_004866.4 NP_004857.4 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) GTTCAAAAAAGTAAGTGAAAT 0.323 8 18 --- --- --- --- CDKN1B 1027 broad.mit.edu 37 12 12870993 12870994 + Frame_Shift_Ins INS - - A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4377528-6017-41d2-ae39-1f280a2294ad 3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20 g.chr12:12870993_12870994insA ENST00000228872.4 + 1 936_937 c.220_221insA c.(220-222)tacfs p.Y74fs CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.Y74fs NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 74 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) AGAGGGCAAGTACGAGTGGCAA 0.589 49 50 --- --- --- ---