Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IGSF10 285313 broad.mit.edu 37 3 151154847 151154847 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:151154847C>G ENST00000282466.3 - 6 7501 c.7502G>C c.(7501-7503)aGa>aCa p.R2501T MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2501 Ig-like C2-type 11. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATAGTTTCCTCTGTCATAAGC 0.393000 40 142 0 0 0.00148497 0 0 APLP2 334 broad.mit.edu 37 11 130000002 130000002 + Missense_Mutation SNP C C T rs149975560 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:130000002C>T ENST00000263574.5 + 11 1597 c.1525C>T c.(1525-1527)Cgt>Tgt p.R509C APLP2_ENST00000278756.7_Missense_Mutation_p.R519C|APLP2_ENST00000345598.5_Missense_Mutation_p.R280C|APLP2_ENST00000543137.1_Missense_Mutation_p.R416C|APLP2_ENST00000338167.5_Missense_Mutation_p.R509C|APLP2_ENST00000528499.1_Missense_Mutation_p.R453C|APLP2_ENST00000539648.1_Missense_Mutation_p.R297C NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 509 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) ACATACCATCCGTCATTACCA 0.478000 24 113 0 0 0.00395357 0 0 LRRC4 64101 broad.mit.edu 37 7 127670193 127670193 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:127670193G>A ENST00000249363.3 - 2 758 c.501C>T c.(499-501)ttC>ttT p.F167F SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 167 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GCACCCGGTTGAAGGCGTAAG 0.572000 20 79 0 0 0.00188189 0 0 DGKD 8527 broad.mit.edu 37 2 234354353 234354353 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:234354353C>T ENST00000264057.2 + 11 1291 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* DGKD_ENST00000409813.3_Nonsense_Mutation_p.Q383* NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 427 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TGACGACACCCAGCTCCCCCA 0.607000 28 40 0 0 0.001512 0 0 LRRC4 64101 broad.mit.edu 37 7 127669962 127669962 + Silent SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:127669962G>C ENST00000249363.3 - 2 989 c.732C>G c.(730-732)ctC>ctG p.L244L SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 244 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) AGAGCTTCTTGAGGGAGCTCA 0.572000 17 40 0 0 0.000566183 0 0 MAP2 4133 broad.mit.edu 37 2 210543343 210543343 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:210543343G>T ENST00000360351.4 + 5 816 c.310G>T c.(310-312)Gca>Tca p.A104S MAP2_ENST00000199940.6_Missense_Mutation_p.A104S|MAP2_ENST00000361559.4_Missense_Mutation_p.A104S|MAP2_ENST00000392194.1_Missense_Mutation_p.A104S|MAP2_ENST00000447185.1_Missense_Mutation_p.A104S NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 104 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAGGCTGTAGCAGTCCTGAA 0.413000 30 44 3.1745e-13 1.21156e-12 0.001512 1 0 ZNF391 346157 broad.mit.edu 37 6 27368900 27368900 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:27368900T>C ENST00000244576.4 + 3 1296 c.751T>C c.(751-753)Tgc>Cgc p.C251R NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 TCCCTATGAATGCAGTAAATG 0.438000 4 30 0 0 0.000602214 0 0 KIAA1804 84451 broad.mit.edu 37 1 233489592 233489592 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:233489592C>T ENST00000366624.3 + 3 1287 c.1026C>T c.(1024-1026)gtC>gtT p.V342V MLK4_ENST00000366623.3_Silent_p.V342V NM_032435.2 NP_115811.2 CCGGAGAAGTCCCCTATCGGG 0.517000 18 57 0 0 0.000566183 0 0 LRIT3 345193 broad.mit.edu 37 4 110790844 110790844 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:110790844G>A ENST00000327908.3 + 4 1154 c.390G>A c.(388-390)atG>atA p.M130I LRIT3_ENST00000594814.1_Missense_Mutation_p.M313I|LRIT3_ENST00000409621.2_Missense_Mutation_p.M130I|LRIT3_ENST00000379920.3_Missense_Mutation_p.M268I Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 268 S -> N (in dbSNP:rs4698797). integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GGTCCATAATGAGCTTGACAG 0.423000 23 116 0 0 0.00229938 0 0 IRF1 3659 broad.mit.edu 37 5 131820153 131820153 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131820153C>T ENST00000245414.4 - 9 1012 c.754G>A c.(754-756)Gat>Aat p.D252N IRF1_ENST00000405885.2_Missense_Mutation_p.D252N NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 252 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCCTTCCCATCCACGTTTGTT 0.567000 23 146 0 0 0.00229938 0 0 OR5M11 219487 broad.mit.edu 37 11 56309925 56309925 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:56309925G>T ENST00000528616.2 - 1 832 c.809C>A c.(808-810)tCt>tAt p.S270Y NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TATTATTTTAGATTCCTCAAC 0.408000 23 69 9.95505e-16 3.86898e-15 0.00229938 1 0 MYO3B 140469 broad.mit.edu 37 2 171243774 171243774 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:171243774C>G ENST00000334231.6 + 14 1560 c.1560C>G c.(1558-1560)atC>atG p.I520M MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.I511M|MYO3B_ENST00000408978.4_Missense_Mutation_p.I511M Q8WXR4 MYO3B_HUMAN myosin IIIB 511 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GGGCAAGAATCTCTGAATATC 0.428000 23 64 0 0 0.000720815 0 0 ATRX 546 broad.mit.edu 37 X 76937979 76937979 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:76937979C>A ENST00000373344.5 - 9 2983 c.2769G>T c.(2767-2769)aaG>aaT p.K923N ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K885N NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 923 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCCCAGAAAGCTTATCGACAC 0.398000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 41 230 4.32679e-17 1.68777e-16 0.00148497 1 0 SMYD4 114826 broad.mit.edu 37 17 1704088 1704088 + Silent SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:1704088T>C ENST00000305513.7 - 5 767 c.600A>G c.(598-600)gaA>gaG p.E200E NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 200 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GACTGTCCTTTTCTTGCATCT 0.498000 48 164 0 0 0.00361006 0 0 ATG4A 115201 broad.mit.edu 37 X 107377334 107377334 + Missense_Mutation SNP A A C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:107377334A>C ENST00000372232.3 + 5 499 c.340A>C c.(340-342)Atc>Ctc p.I114L ATG4A_ENST00000372254.3_Missense_Mutation_p.I90L|ATG4A_ENST00000345734.3_Missense_Mutation_p.I114L|ATG4A_ENST00000545696.1_Missense_Mutation_p.I37L NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 114 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 ATACCAACGCATCCTACAGTG 0.348000 14 21 0 0 0.000566183 0 0 ROS1 6098 broad.mit.edu 37 6 117709162 117709162 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:117709162C>T ENST00000368508.3 - 13 1993 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 599 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGGCCTAATTCAAAGAGTTCA 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 31 86 0 0 0.001512 0 0 ALDH1A3 220 broad.mit.edu 37 15 101448628 101448628 + Silent SNP C C T rs145659258 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:101448628C>T ENST00000329841.5 + 12 1939 c.1407C>T c.(1405-1407)aaC>aaT p.N469N ALDH1A3_ENST00000346623.6_Silent_p.N362N|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 469 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ACTGCTACAACGCCCTCTATG 0.512000 10 37 0 0 0.000442599 0 0 MYO3A 53904 broad.mit.edu 37 10 26377303 26377303 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:26377303C>T ENST00000265944.5 + 15 1697 c.1531C>T c.(1531-1533)Ctg>Ttg p.L511L MYO3A_ENST00000543632.1_Silent_p.L511L NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 511 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGAATATCTCCTGGAAAAATC 0.343000 4 36 0 0 0.00116845 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788061 65788061 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:65788061G>A ENST00000312106.5 - 7 2102 c.1965C>T c.(1963-1965)atC>atT p.I655I NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 655 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 ACTGGATGATGATGTAAATTA 0.597000 9 39 0 0 0.000274275 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805750 169805750 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:169805750C>T ENST00000274629.4 - 4 976 c.534G>A c.(532-534)gtG>gtA p.V178V KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 178 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GGTTGCTCTTCACCATGGCGA 0.627000 21 82 0 0 0.00152264 0 0 KDM2B 84678 broad.mit.edu 37 12 121947475 121947475 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:121947475C>T ENST00000377069.4 - 11 1855 c.1449G>A c.(1447-1449)ctG>ctA p.L483L KDM2B_ENST00000536437.1_Silent_p.L397L|KDM2B_ENST00000377071.4_Silent_p.L514L|KDM2B_ENST00000538046.2_Silent_p.L424L|KDM2B_ENST00000542973.1_5'UTR NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 514 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCAGGCCCTTCAGTTCAAACT 0.597000 16 59 0 0 0.000566183 0 0 EZH2 2146 broad.mit.edu 37 7 148515125 148515125 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:148515125G>A ENST00000320356.2 - 10 1205 c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W EZH2_ENST00000476773.1_Missense_Mutation_p.R348W|EZH2_ENST00000478654.1_Missense_Mutation_p.R348W|EZH2_ENST00000483967.1_Missense_Mutation_p.R348W|EZH2_ENST00000541220.1_Missense_Mutation_p.R348W|EZH2_ENST00000460911.1_Missense_Mutation_p.R357W|EZH2_ENST00000350995.2_Missense_Mutation_p.R318W NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 357 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTGGGAAGCCGTCCTCTTCTG 0.537000 Mis DLBCL 25 104 0 0 0.00278032 0 0 LY9 4063 broad.mit.edu 37 1 160769734 160769734 + Nonsense_Mutation SNP C C T rs12049314 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:160769734C>T ENST00000263285.5 + 2 346 c.316C>T c.(316-318)Cga>Tga p.R106* LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Nonsense_Mutation_p.R106*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R66*|LY9_ENST00000368039.2_Nonsense_Mutation_p.R106* NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 106 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTACCTGGGCCGACTAGACAT 0.448000 17 87 0 0 0.00400662 0 0 UNC119 9094 broad.mit.edu 37 17 26874665 26874665 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:26874665C>T ENST00000470125.1 - 3 1113 c.355G>A c.(355-357)Gaa>Aaa p.E119K UNC119_ENST00000301032.4_Missense_Mutation_p.E214K|UNC119_ENST00000335765.4_Intron|UNC119_ENST00000484980.1_Intron Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 0 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GCCCCCACTTCCCCACTCCCA 0.612000 13 29 0 0 0.00244969 0 0 BBS9 27241 broad.mit.edu 37 7 33296932 33296932 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:33296932C>T ENST00000242067.6 + 6 1048 c.527C>T c.(526-528)cCt>cTt p.P176L BBS9_ENST00000355070.2_Missense_Mutation_p.P176L|BBS9_ENST00000425508.2_Missense_Mutation_p.P131L|BBS9_ENST00000354265.4_Missense_Mutation_p.P176L|BBS9_ENST00000350941.3_Missense_Mutation_p.P176L|BBS9_ENST00000396127.2_Missense_Mutation_p.P176L NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 176 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AGATTTCTCCCTGGCTTTCTT 0.433000 Bardet-Biedl syndrome 19 46 0 0 0.000958276 0 0 EFHC1 114327 broad.mit.edu 37 6 52317592 52317592 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:52317592C>T ENST00000371068.5 + 4 783 c.680C>T c.(679-681)tCa>tTa p.S227L EFHC1_ENST00000538167.1_Missense_Mutation_p.S208L|EFHC1_ENST00000433625.2_Missense_Mutation_p.S136L NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 227 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) GTCACCCCATCAGACTTTGAT 0.398000 22 88 0 0 0.00188189 0 0 ITGB1 3688 broad.mit.edu 37 10 33200509 33200509 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:33200509C>T ENST00000396033.2 - 13 1933 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K ITGB1_ENST00000302278.3_Missense_Mutation_p.E600K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E600K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E600K NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 600 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTGCTGGCTTCACAAGTACTA 0.493000 27 138 0 0 0.000720815 0 0 KIAA0907 22889 broad.mit.edu 37 1 155903485 155903485 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:155903485T>C ENST00000368320.3 - 2 219 c.194A>G c.(193-195)aAg>aGg p.K65R KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K65R Q7Z7F0 K0907_HUMAN KIAA0907 65 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GGCATTAATCTTGGCAGCCAC 0.542000 5 21 0 0 0.000602214 0 0 NUTM1 256646 broad.mit.edu 37 15 34649146 34649146 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:34649146G>A ENST00000537011.1 + 8 3319 c.2937G>A c.(2935-2937)gaG>gaA p.E979E NUTM1_ENST00000438749.3_Silent_p.E969E|NUTM1_ENST00000333756.4_Silent_p.E951E NUT midline carcinoma, family member 1 CTTTACAAGAGAGTCAGGAGT 0.502000 9 56 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9061995 9061995 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:9061995G>A ENST00000397910.4 - 3 25654 c.25451C>T c.(25450-25452)tCc>tTc p.S8484F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8486 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATAATGGGGGAAGTAGAAAG 0.488000 70 205 0 0 0.00361006 0 0 LTN1 26046 broad.mit.edu 37 21 30318479 30318479 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:30318479G>A ENST00000361371.4 - 20 3768 c.3618C>T c.(3616-3618)ttC>ttT p.F1206F LTN1_ENST00000389194.2_Silent_p.F1252F NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1206 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CCTACCAACTGAAAAGAAAAA 0.308000 17 98 0 0 0.000958276 0 0 EPHA2 1969 broad.mit.edu 37 1 16456829 16456829 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:16456829C>T ENST00000358432.5 - 15 2715 c.2561G>A c.(2560-2562)tGg>tAg p.W854* NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 854 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTCCTGCTGCCAGCACTGCAT 0.612000 16 51 0 0 0.00316338 0 0 THOC2 57187 broad.mit.edu 37 X 122767863 122767863 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:122767863C>T ENST00000245838.8 - 20 2108 c.2077G>A c.(2077-2079)Gag>Aag p.E693K THOC2_ENST00000491737.1_Missense_Mutation_p.E578K|THOC2_ENST00000355725.4_Missense_Mutation_p.E693K NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 693 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTCATTTCCTCTGTAATTTCT 0.333000 18 87 0 0 0.000958276 0 0 BACH2 60468 broad.mit.edu 37 6 90660231 90660231 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:90660231C>G ENST00000257749.4 - 7 2301 c.1594G>C c.(1594-1596)Ggg>Cgg p.G532R RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.G532R|BACH2_ENST00000343122.3_Missense_Mutation_p.G532R NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 532 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCCCGCTCCCGTCCTCCGCG 0.622000 17 51 0 0 0.00074312 0 0 ARC 23237 broad.mit.edu 37 8 143695543 143695543 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:143695543C>G ENST00000356613.2 - 1 1290 c.90G>C c.(88-90)caG>caC p.Q30H NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 30 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) ACTTCCCGATCTGCAGGATCA 0.726000 4 19 0 0 0.00024832 0 0 PCDH12 51294 broad.mit.edu 37 5 141335106 141335106 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:141335106G>A ENST00000231484.3 - 1 3521 c.2311C>T c.(2311-2313)Cag>Tag p.Q771* NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 771 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGCCTTCTGAATGTGTTTC 0.587000 11 62 0 0 0.00136819 0 0 ALX1 8092 broad.mit.edu 37 12 85695240 85695240 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:85695240C>T ENST00000316824.3 + 4 1123 c.968C>T c.(967-969)tCa>tTa p.S323L NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 323 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GCCAATATTTCATGGGCCATG 0.368000 16 50 0 0 0.00316338 0 0 NCOR1 9611 broad.mit.edu 37 17 15964844 15964844 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:15964844C>G ENST00000268712.3 - 37 6009 c.5752G>C c.(5752-5754)Gag>Cag p.E1918Q NCOR1_ENST00000395857.3_Missense_Mutation_p.E502Q|NCOR1_ENST00000395851.1_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1918 Interaction with C1D (By similarity). 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 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) GTCCTTAGCTCTTCCTCATAT 0.498000 59 192 0 0 0.00361006 0 0 HPS6 79803 broad.mit.edu 37 10 103826348 103826348 + Missense_Mutation SNP G G A rs140222296 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:103826348G>A ENST00000299238.5 + 1 1202 c.1117G>A c.(1117-1119)Ggg>Agg p.G373R NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 373 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAGACCCGAGGGAATCTTCG 0.572000 Hermansky-Pudlak syndrome 11 60 0 0 0.000673444 0 0 ARID2 196528 broad.mit.edu 37 12 46245639 46245639 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:46245639C>T ENST00000334344.6 + 15 3905 c.3733C>T c.(3733-3735)Caa>Taa p.Q1245* ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q855*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1096*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1245 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATAATTTGCCAAAAGGAGGA 0.458000 """N, S, F""" hepatocellular carcinoma 14 57 0 0 0.00244969 0 0 CDH3 1001 broad.mit.edu 37 16 68721545 68721545 + Silent SNP C C T rs140790125 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:68721545C>T ENST00000264012.4 + 12 2245 c.1701C>T c.(1699-1701)atC>atT p.I567I CDH3_ENST00000581171.1_Silent_p.I512I|CDH3_ENST00000429102.2_Silent_p.I567I NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 567 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGCTGAACATCACGGACAAGG 0.562000 25 70 0 0 0.000720815 0 0 WDR7 23335 broad.mit.edu 37 18 54423844 54423844 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr18:54423844C>T ENST00000254442.3 + 15 2231 c.2020C>T c.(2020-2022)Ctg>Ttg p.L674L WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L674L NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 674 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TCATAACTCCCTGATGGTTCA 0.308000 16 64 0 0 0.00074312 0 0 IRF1 3659 broad.mit.edu 37 5 131820066 131820066 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131820066C>G ENST00000245414.4 - 9 1099 c.841G>C c.(841-843)Gac>Cac p.D281H IRF1_ENST00000405885.2_Missense_Mutation_p.D281H NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 281 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCTGGGCTGTCAATTTCTGGC 0.552000 19 99 0 0 0.00188189 0 0 RYR3 6263 broad.mit.edu 37 15 34105687 34105687 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:34105687C>T ENST00000389232.4 + 74 10479 c.10409C>T c.(10408-10410)tCc>tTc p.S3470F RYR3_ENST00000415757.3_Missense_Mutation_p.S3465F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3470 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTTTGAGGTCCAAGAAGGCC 0.532000 29 113 0 0 0.00106085 0 0 PPM1M 132160 broad.mit.edu 37 3 52283691 52283691 + Nonsense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:52283691C>G ENST00000323588.4 + 10 1123 c.758C>G c.(757-759)tCa>tGa p.S253* PPM1M_ENST00000457351.2_Nonsense_Mutation_p.S414*|PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000409502.3_Nonsense_Mutation_p.S202* Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 0 protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) CACAGGTTCTCAAAGCTGGCC 0.537000 7 22 0 0 0.00307968 0 0 WDR44 54521 broad.mit.edu 37 X 117526618 117526618 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:117526618G>C ENST00000254029.3 + 4 605 c.210G>C c.(208-210)gaG>gaC p.E70D WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.E70D|WDR44_ENST00000371822.5_Missense_Mutation_p.E45D NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 70 Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 TTATTGAGGAGAGTCAGAAAG 0.343000 19 65 0 0 0.00074312 0 0 SMC4 10051 broad.mit.edu 37 3 160135570 160135570 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:160135570G>A ENST00000357388.3 + 11 1948 c.1497G>A c.(1495-1497)atG>atA p.M499I SMC4_ENST00000469762.1_Missense_Mutation_p.M474I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.M499I|SMC4_ENST00000462787.1_Missense_Mutation_p.M499I|SMC4_ENST00000360111.2_Missense_Mutation_p.M499I NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 499 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTTCAAAGATGGATGTAGCCC 0.378000 19 79 0 0 0.00188189 0 0 KDM7A 80853 broad.mit.edu 37 7 139801957 139801957 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:139801957C>T ENST00000397560.2 - 12 1529 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K JHDM1D_ENST00000006967.5_Missense_Mutation_p.E478K NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 478 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTGCCGTTTTCCTCCTTTAAG 0.348000 25 62 0 0 0.00395357 0 0 DENND5B 160518 broad.mit.edu 37 12 31605306 31605306 + Silent SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:31605306A>T ENST00000389082.5 - 5 1461 c.1197T>A c.(1195-1197)gtT>gtA p.V399V DENND5B_ENST00000536562.1_Silent_p.V434V|DENND5B_ENST00000354285.4_Silent_p.V421V|DENND5B_ENST00000306833.6_Silent_p.V434V NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 399 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ATTGAACAAGAACCTCAGAGA 0.403000 17 66 0 0 0.000958276 0 0 JRK 8629 broad.mit.edu 37 8 143746149 143746149 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:143746149C>T ENST00000507178.2 - 0 1661 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cctcccttcccgctacccccc 0.647000 5 12 0 0 0.000602214 0 0 FAM86C1 55199 broad.mit.edu 37 11 71500886 71500886 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:71500886C>A ENST00000359244.4 + 2 177 c.154C>A c.(154-156)Cag>Aag p.Q52K FAM86C1_ENST00000426628.2_Missense_Mutation_p.Q52K|FAM86C1_ENST00000346333.6_Missense_Mutation_p.Q52K|FAM86C1_ENST00000528685.1_Missense_Mutation_p.Q52K NM_018172.2 NP_060642.2 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 52 lung(1) 1 GGATATTTTGCAGAAGGTAAG 0.483000 20 72 6.44725e-10 2.43435e-09 0.00229938 1 0 F2 2147 broad.mit.edu 37 11 46747651 46747651 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:46747651G>A ENST00000311907.5 + 7 858 c.802G>A c.(802-804)Gat>Aat p.D268N F2_ENST00000530231.1_Missense_Mutation_p.D268N NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 268 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CCCAGACGGGGATGAGGAGGG 0.632000 21 121 0 0 0.00188189 0 0 ACTC1 70 broad.mit.edu 37 15 35082673 35082673 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:35082673C>G ENST00000290378.4 - 7 1729 c.1074G>C c.(1072-1074)tgG>tgC p.W358C RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 358 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCTTGCTAATCCACATTTGCT 0.502000 41 91 0 0 0.0025221 0 0 OCM2 4951 broad.mit.edu 37 7 97617811 97617811 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:97617811G>A ENST00000257627.4 - 2 202 c.111C>T c.(109-111)tcC>tcT p.S37S OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 37 calcium ion binding lung(4) 4 CTGACATCTTGGAGAGGCCTG 0.458000 42 128 0 0 0.00222228 0 0 CEP135 9662 broad.mit.edu 37 4 56820513 56820513 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:56820513C>G ENST00000257287.4 + 4 560 c.436C>G c.(436-438)Caa>Gaa p.Q146E CEP135_ENST00000422247.2_Missense_Mutation_p.Q146E NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 146 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TCAACAACTTCAAGAAAAGAA 0.323000 21 48 0 0 0.00332997 0 0 PIAS4 51588 broad.mit.edu 37 19 4037462 4037462 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:4037462G>A ENST00000262971.2 + 10 1348 c.1233G>A c.(1231-1233)aaG>aaA p.K411K NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 411 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCCGAAAAGGAGCGCAGCT 0.687000 8 31 0 0 0.00307968 0 0 SIRPA 140885 broad.mit.edu 37 20 1895762 1895762 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:1895762G>A ENST00000358771.4 + 2 249 c.97G>A c.(97-99)Gag>Aag p.E33K SIRPA_ENST00000356025.3_Missense_Mutation_p.E33K|SIRPA_ENST00000400068.3_Missense_Mutation_p.E33K NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 33 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGGTGAGGAGGAGCTGCAGGT 0.527000 11 15 0 0 0.000978159 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131889 40131889 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:40131889A>G ENST00000235628.1 - 2 154 c.155T>C c.(154-156)gTc>gCc p.V52A NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 52 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGCGATGGTGACTGCATTCTG 0.592000 7 36 0 0 0.00307968 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375087 117375087 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:117375087G>A ENST00000160373.3 - 16 3847 c.3756C>T c.(3754-3756)gcC>gcT p.A1252A NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1252 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGGAGACAGGCCTTGGCGA 0.537000 6 45 0 0 0.00116845 0 0 ACVR1B 91 broad.mit.edu 37 12 52369156 52369156 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:52369156C>T ENST00000257963.4 + 2 276 c.199C>T c.(199-201)Cgc>Tgc p.R67C ACVR1B_ENST00000426655.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R67C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R15C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R67C NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 67 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GCACCATGTGCGCACCTGCAT 0.592000 18 46 0 0 0.00074312 0 0 L1CAM 3897 broad.mit.edu 37 X 153128177 153128177 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:153128177C>T ENST00000370060.1 - 29 3904 c.3715G>A c.(3715-3717)Ggg>Agg p.G1239R L1CAM_ENST00000370055.1_Missense_Mutation_p.G1230R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1239R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1235R|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1230R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1241R|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1237R NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1239 G -> E. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCATTGCCCCCTGCCGCCTCC 0.602000 22 67 0 0 0.00229938 0 0 NSFL1C 55968 broad.mit.edu 37 20 1433208 1433208 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:1433208G>A ENST00000216879.4 - 7 1582 c.715C>T c.(715-717)Cgg>Tgg p.R239W NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241W NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 239 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TCCTCGTCCCGATGGTCCTCC 0.572000 55 144 0 0 0.00361006 0 0 CRB1 23418 broad.mit.edu 37 1 197390489 197390489 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:197390489G>A ENST00000367400.3 + 6 1666 c.1531G>A c.(1531-1533)Gcc>Acc p.A511T CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A399T|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A210T|CRB1_ENST00000535699.1_Missense_Mutation_p.A442T|CRB1_ENST00000538660.1_Missense_Mutation_p.A511T NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 511 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGTAACATAGCCCTCAGGTT 0.488000 30 61 0 0 0.00178596 0 0 DDB1 1642 broad.mit.edu 37 11 61084032 61084032 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:61084032C>T ENST00000301764.7 - 11 1630 c.1233G>A c.(1231-1233)tgG>tgA p.W411* DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 411 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 ACCGCAGTGGCCATAATCCTG 0.532000 Nucleotide excision repair (NER) 29 104 0 0 0.00106085 0 0 ENPP4 22875 broad.mit.edu 37 6 46108043 46108043 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:46108043C>T ENST00000321037.4 + 2 953 c.723C>T c.(721-723)acC>acT p.T241T NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 241 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 ATGGGATGACCCAGTGTTCTC 0.393000 18 62 0 0 0.000566183 0 0 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:55221821G>A ENST00000275493.2 + 7 1042 c.865G>A c.(865-867)Gcc>Acc p.A289T EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289T(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGT 0.592000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 51 0 0 0.000978159 0 0 GNAS 2778 broad.mit.edu 37 20 57429461 57429461 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:57429461C>G ENST00000371100.4 + 1 1693 c.1141C>G c.(1141-1143)Cct>Gct p.P381A GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P381A|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P381A|GNAS_ENST00000306120.3_Silent_p.P317P NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GTACGGATCCCCTGCCGCCGG 0.682000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 5 0 0 6.4e-05 0 0 ATP6V0B 533 broad.mit.edu 37 1 44441472 44441472 + Splice_Site SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:44441472G>T ENST00000532642.1 + 2 165 c.67_splice c.e2-1 p.G23_splice ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 23 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity p.G23V(1) breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTGCTGCAGGAGTCTGCTAC 0.552000 49 171 4.32865e-36 1.73309e-35 0.00361006 1 0 CATSPERD 257062 broad.mit.edu 37 19 5733907 5733907 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:5733907C>T ENST00000381624.3 + 5 378 c.317C>T c.(316-318)tCg>tTg p.S106L CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 106 integral to membrane TTTGCTGGTTCGTTATTGCTG 0.313000 10 40 0 0 0.000442599 0 0 THRA 7067 broad.mit.edu 37 17 38245491 38245491 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:38245491G>C ENST00000450525.2 + 9 1506 c.1015G>C c.(1015-1017)Gag>Cag p.E339Q THRA_ENST00000264637.4_Missense_Mutation_p.E339Q|THRA_ENST00000546243.1_Missense_Mutation_p.E339Q|THRA_ENST00000584985.1_Missense_Mutation_p.E339Q|THRA_ENST00000394121.4_Missense_Mutation_p.E339Q NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 339 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GGACAAGATCGAGAAGAGTCA 0.622000 23 116 0 0 0.00332997 0 0 PLA2R1 22925 broad.mit.edu 37 2 160832579 160832579 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:160832579C>T ENST00000283243.7 - 17 2801 c.2595_splice c.e17+1 p.A865_splice PLA2R1_ENST00000392771.1_Splice_Site_p.A865_splice NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 865 C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTTCAAGTACCGCTTTTATTT 0.413000 26 43 0 0 0.00127121 0 0 ZXDB 158586 broad.mit.edu 37 X 57618953 57618953 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:57618953G>A ENST00000374888.1 + 1 685 c.472G>A c.(472-474)Gcc>Acc p.A158T NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 cccgatctccgcccccggccc 0.751000 6 15 0 0 0.000274275 0 0 SPDEF 25803 broad.mit.edu 37 6 34507170 34507170 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:34507170G>A ENST00000374037.3 - 5 1100 c.686C>T c.(685-687)tCg>tTg p.S229L SPDEF_ENST00000544425.1_Missense_Mutation_p.S213L NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 229 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S229L(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CTCACTGGTCGAGGCTGGGTG 0.667000 22 109 0 0 0.00188189 0 0 TP53 7157 broad.mit.edu 37 17 7579533 7579533 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:7579533G>A ENST00000420246.2 - 4 286 c.154C>T c.(154-156)Caa>Taa p.Q52* TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q52* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 52 Interaction with HRMT1L2. Q -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGAACCATTGTTCAATATCG 0.592000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 67 183 0 0 0.00361006 0 0 MAP3K10 4294 broad.mit.edu 37 19 40704316 40704316 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:40704316C>T ENST00000253055.3 + 2 1005 c.717C>T c.(715-717)ctC>ctT p.L239L MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 239 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 ACCACAACCTCGCAGACACGG 0.647000 14 44 0 0 0.00400662 0 0 METTL24 728464 broad.mit.edu 37 6 110567452 110567452 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:110567452G>A ENST00000338882.4 - 5 797 c.798C>T c.(796-798)ctC>ctT p.L266L CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 266 extracellular region GATCTGCCTTGAGAACGTCAA 0.373000 10 28 0 0 0.000442599 0 0 KCTD4 386618 broad.mit.edu 37 13 45768657 45768657 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:45768657C>T ENST00000405872.1 - 2 449 c.46G>A c.(46-48)Ggg>Agg p.G16R GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.G16R NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 16 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TTGTGTTTCCCTTCATACTCC 0.353000 40 121 0 0 0.00128727 0 0 RXRB 6257 broad.mit.edu 37 6 33164363 33164363 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:33164363G>A ENST00000374680.3 - 5 1052 c.841C>T c.(841-843)Cgg>Tgg p.R281W RXRB_ENST00000374685.4_Missense_Mutation_p.R281W|RXRB_ENST00000544186.1_Missense_Mutation_p.R91W|RXRB_ENST00000413614.2_Missense_Mutation_p.R185W NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 281 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCTTTCCCCGCTGACGCTCC 0.602000 11 67 0 0 0.000978159 0 0 MYL6 4637 broad.mit.edu 37 12 56552256 56552256 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:56552256G>A ENST00000536128.1 + 1 111 c.71G>A c.(70-72)cGa>cAa p.R24Q MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547408.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 0 EF-hand 1. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GGTGGGGGGCGAGGAGAAGGC 0.637000 6 18 0 0 0.00116845 0 0 UBR3 130507 broad.mit.edu 37 2 170917856 170917856 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:170917856C>T ENST00000272793.5 + 35 4972 c.4922C>T c.(4921-4923)tCc>tTc p.S1641F UBR3_ENST00000418381.1_Missense_Mutation_p.S1641F|UBR3_ENST00000392631.1_Missense_Mutation_p.S462F Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1641 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TCTCCTGAATCCATGGAAAAA 0.368000 45 77 0 0 0.00361006 0 0 KCNT2 343450 broad.mit.edu 37 1 196303052 196303052 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:196303052A>G ENST00000367433.5 - 17 2023 c.1922T>C c.(1921-1923)aTt>aCt p.I641T KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I591T|KCNT2_ENST00000294725.8_Missense_Mutation_p.I641T|KCNT2_ENST00000451324.2_Missense_Mutation_p.I252T Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 641 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACATGTTTGAATCGATGATGT 0.403000 14 42 0 0 0.00244969 0 0 PCK2 5106 broad.mit.edu 37 14 24566131 24566131 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:24566131C>A ENST00000216780.4 + 2 328 c.60C>A c.(58-60)ggC>ggA p.G20G PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000559250.1_Silent_p.G32G|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Silent_p.G20G|PCK2_ENST00000545054.2_5'UTR NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 20 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GCCCCTTGGGCTGGCCATCAT 0.567000 28 115 2.79863e-10 1.06048e-09 0.000720815 1 0 PDE8B 8622 broad.mit.edu 37 5 76645309 76645309 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:76645309C>T ENST00000264917.5 + 8 987 c.942C>T c.(940-942)ctC>ctT p.L314L PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Silent_p.L294L|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000333194.4_Silent_p.L314L NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 314 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GAAAAGAACTCGCTGATCTGC 0.502000 22 68 0 0 0.00332997 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823608 38823608 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr22:38823608C>T ENST00000303592.3 - 2 788 c.530G>A c.(529-531)cGg>cAg p.R177Q NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 177 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CTTCTTGGGCCGCGCCATCTT 0.642000 8 51 0 0 0.00307968 0 0 CPD 1362 broad.mit.edu 37 17 28706100 28706100 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:28706100C>G ENST00000225719.4 + 1 178 c.102C>G c.(100-102)atC>atG p.I34M NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 34 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CGGCTCACATCAAGAAGGCGG 0.706000 3 5 0 0 6.4e-05 0 0 CLDN10 9071 broad.mit.edu 37 13 96205036 96205036 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:96205036C>T ENST00000299339.2 + 1 58 c.29C>T c.(28-30)gCc>gTc p.A10V CLDN10_ENST00000376873.3_Intron NM_006984.4 NP_008915.1 P78369 CLD10_HUMAN claudin 10 10 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GAGATCATCGCCTTCATGGTC 0.672000 13 18 0 0 0.00244969 0 0 KLC1 3831 broad.mit.edu 37 14 104142025 104142025 + Splice_Site SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:104142025G>A ENST00000389744.4 + 11 1580 c.e11-1 KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000348520.6_Splice_Site|KLC1_ENST00000555836.1_Splice_Site Q07866 KLC1_HUMAN kinesin light chain 1 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TTATAATTTAGGGAAAGCAAA 0.328000 9 39 0 0 0.000978159 0 0 C1orf172 126695 broad.mit.edu 37 1 27277199 27277199 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:27277199C>A ENST00000320567.5 - 3 1176 c.1088G>T c.(1087-1089)cGg>cTg p.R363L NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 363 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CCTCAGCTTCCGGGCGATGGC 0.597000 33 120 5.71845e-15 2.19829e-14 0.00111076 1 0 ANKS4B 257629 broad.mit.edu 37 16 21262063 21262063 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:21262063G>A ENST00000311620.5 + 2 1249 c.1176G>A c.(1174-1176)agG>agA p.R392R NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 392 SAM. NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) TGGGTCCCAGGAAGAAAGTTC 0.512000 26 99 0 0 0.000720815 0 0 KMT2D 8085 broad.mit.edu 37 12 49420049 49420049 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:49420049C>T ENST00000301067.7 - 48 15699 c.15700G>A c.(15700-15702)Gag>Aag p.E5234K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCGTTGTTCTCACCAATAGAA 0.597000 25 65 0 0 0.00332997 0 0 ZNF442 79973 broad.mit.edu 37 19 12474424 12474424 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:12474424C>G ENST00000242804.4 - 3 604 c.22G>C c.(22-24)Gac>Cac p.D8H ZNF442_ENST00000438182.1_Intron NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TCACTTCTGTCTTCTCCCCCA 0.473000 22 99 0 0 0.00278032 0 0 ABHD16B 140701 broad.mit.edu 37 20 62493551 62493551 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:62493551G>A ENST00000369916.3 + 1 986 c.658G>A c.(658-660)Gcc>Acc p.A220T NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 220 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 TCAGCACGACGCCAACGCCAT 0.692000 12 20 0 0 0.00136819 0 0 TTC37 9652 broad.mit.edu 37 5 94830705 94830705 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:94830705C>T ENST00000358746.2 - 35 3951 c.3653G>A c.(3652-3654)gGa>gAa p.G1218E NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1218 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AGCCACATTTCCTGCTACAAC 0.303000 14 77 0 0 0.00316338 0 0 ENTPD7 57089 broad.mit.edu 37 10 101458317 101458317 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:101458317G>A ENST00000370489.4 + 10 1215 c.1037G>A c.(1036-1038)aGt>aAt p.S346N NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 346 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) ACAGGTCTGAGTCCCGACAAT 0.473000 15 43 0 0 0.00074312 0 0 NEUROD2 4761 broad.mit.edu 37 17 37761719 37761719 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:37761719C>A ENST00000302584.4 - 2 1354 c.1134G>T c.(1132-1134)gcG>gcT p.A378A NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 378 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TATGAAAAAACGCATTGAGCT 0.612000 6 15 0.00198382 0.00694664 0.00198382 1 0 LAMC3 10319 broad.mit.edu 37 9 133932455 133932455 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:133932455G>A ENST00000361069.4 + 12 2212 c.2079G>A c.(2077-2079)agG>agA p.R693R LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 693 Laminin EGF-like 5; second part. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GATACAAGAGGGAGATGCCAC 0.612000 23 67 0 0 0.00395357 0 0 PRG3 10394 broad.mit.edu 37 11 57145249 57145249 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:57145249G>A ENST00000287143.2 - 5 677 c.568C>T c.(568-570)Cca>Tca p.P190S NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 190 C-type lectin. basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 GGTTGCCCTGGGGACCAGTAA 0.557000 12 34 0 0 0.00136819 0 0 COL14A1 7373 broad.mit.edu 37 8 121267542 121267542 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:121267542G>A ENST00000297848.3 + 23 3086 c.2816G>A c.(2815-2817)tGg>tAg p.W939* COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W939*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W844* NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 939 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGTGCCCACTGGCAGGTACAT 0.438000 36 96 0 0 0.00375469 0 0 OBSCN 84033 broad.mit.edu 37 1 228468382 228468382 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:228468382C>T ENST00000570156.2 + 35 9443 c.9369C>T c.(9367-9369)ttC>ttT p.F3123F OBSCN_ENST00000359599.6_Silent_p.F1541F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F2694F|OBSCN_ENST00000422127.1_Silent_p.F2694F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2124 Ig-like 31. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGTATGACTTCCTGCACACGG 0.682000 28 102 0 0 0.000720815 0 0 ZNF224 7767 broad.mit.edu 37 19 44611712 44611712 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:44611712C>T ENST00000336976.6 + 6 1653 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 467 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GAGCTTTAGTCGGGCCCCATG 0.438000 19 62 0 0 0.00074312 0 0 FCGBP 8857 broad.mit.edu 37 19 40368526 40368526 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:40368526G>A ENST00000221347.6 - 28 12829 c.12822C>T c.(12820-12822)taC>taT p.Y4274Y NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4274 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGGGCCCTCGTACTGCTCCA 0.657000 6 80 0 0 0.00327116 0 0 MYO3B 140469 broad.mit.edu 37 2 171243784 171243784 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:171243784C>G ENST00000334231.6 + 14 1570 c.1570C>G c.(1570-1572)Ctc>Gtc p.L524V MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L515V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L515V Q8WXR4 MYO3B_HUMAN myosin IIIB 515 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CTCTGAATATCTCCTGGAAAA 0.413000 24 57 0 0 0.00127121 0 0 LAMC2 3918 broad.mit.edu 37 1 183177126 183177126 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:183177126C>A ENST00000264144.4 + 2 255 c.190C>A c.(190-192)Cac>Aac p.H64N LAMC2_ENST00000493293.1_Missense_Mutation_p.H64N NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 64 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TGATGGCATTCACTGCGAGAA 0.483000 100 254 4.70724e-39 1.899e-38 0.00361006 1 0 ADRB3 155 broad.mit.edu 37 8 37823854 37823854 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:37823854G>A ENST00000345060.3 - 1 629 c.134C>T c.(133-135)gCg>gTg p.A45V NM_000025.2 NP_000016.1 P13945 ADRB3_HUMAN adrenoceptor beta 3 45 carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4) 9 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) CACCGCCAGCGCCAGCAGGGC 0.697000 8 22 0 0 0.00307968 0 0 OR5L2 26338 broad.mit.edu 37 11 55594959 55594959 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:55594959G>A ENST00000378397.1 + 1 265 c.265G>A c.(265-267)Gac>Aac p.D89N NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTTTAACAAGGACAAAGCCAT 0.473000 HNSCC(27;0.073) 53 68 0 0 0.00361006 0 0 CDH23 64072 broad.mit.edu 37 10 73537541 73537541 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:73537541C>T ENST00000224721.6 + 38 4970 c.4965C>T c.(4963-4965)ctC>ctT p.L1655L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1650 Cadherin 16. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGACACGCTCAACACCAGCC 0.582000 13 38 0 0 0.00136819 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324169 44324169 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:44324169G>T ENST00000354250.2 + 3 1116 c.1047G>T c.(1045-1047)ctG>ctT p.L349L NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 54 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) CCCCTCCCCTGCCCAGAAAGG 0.617000 13 48 9.31168e-06 3.36044e-05 0.00185496 1 0 HFM1 164045 broad.mit.edu 37 1 91845680 91845680 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:91845680C>A ENST00000370425.3 - 8 1085 c.987G>T c.(985-987)ttG>ttT p.L329F HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L8F NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 329 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTTAATATTCAACCATGGCA 0.284000 9 55 0.000274275 0.00097002 0.000274275 1 0 CSGALNACT1 55790 broad.mit.edu 37 8 19362961 19362961 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:19362961C>A ENST00000454498.2 - 4 1398 c.385G>T c.(385-387)Gac>Tac p.D129Y CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D129Y NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 129 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TCTGCCTTGTCCACCTGCGAG 0.597000 25 73 3.65163e-15 1.41401e-14 0.00106085 1 0 RSPH4A 345895 broad.mit.edu 37 6 116938138 116938138 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:116938138C>T ENST00000229554.5 + 1 489 c.352C>T c.(352-354)Cct>Tct p.P118S RSPH4A_ENST00000368580.4_Missense_Mutation_p.P118S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P118S NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 118 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GAGTGTGATTCCTGAAGCTGG 0.537000 Kartagener syndrome 23 78 0 0 0.00278032 0 0 LARP6 55323 broad.mit.edu 37 15 71124454 71124454 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:71124454C>A ENST00000299213.8 - 3 1483 c.1413G>T c.(1411-1413)ttG>ttT p.L471F NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 471 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 GACCCCTGGGCAACCTCAGCA 0.547000 25 91 2.41591e-17 9.4586e-17 0.000720815 1 0 PDAP1 11333 broad.mit.edu 37 7 99001128 99001128 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:99001128C>T ENST00000350498.3 - 3 386 c.105_splice c.e3-1 p.E36_splice NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 36 cell proliferation|signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TCCTCTTCTTCCTGTTTCAGA 0.453000 18 72 0 0 0.000958276 0 0 SCAND3 114821 broad.mit.edu 37 6 28540086 28540086 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:28540086G>A ENST00000452236.2 - 4 4197 c.3580C>T c.(3580-3582)Cca>Tca p.P1194S NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1194 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tcttttgatggaaaataaaat 0.289000 4 20 0 0 0.00024832 0 0 MAP4K3 8491 broad.mit.edu 37 2 39494353 39494353 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:39494353T>C ENST00000263881.3 - 27 2333 c.2009A>G c.(2008-2010)aAa>aGa p.K670R MAP4K3_ENST00000536018.1_Missense_Mutation_p.K223R|MAP4K3_ENST00000341681.5_Missense_Mutation_p.K649R|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K586R NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 670 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) CTGGCACCATTTGGTTTCAGG 0.368000 33 44 0 0 0.00428921 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634140 70634140 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:70634140G>A ENST00000381269.2 - 2 1753 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q334* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 334 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCCACCAGCTGATCTAAGTCC 0.522000 25 61 0 0 0.000878237 0 0 OR5M8 219484 broad.mit.edu 37 11 56258161 56258161 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:56258161G>C ENST00000327216.2 - 1 710 c.686C>G c.(685-687)tCt>tGt p.S229C NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GCCCTCTGTAGAGCGAATCTT 0.413000 8 47 0 0 0.00307968 0 0 PSME3 10197 broad.mit.edu 37 17 40986892 40986892 + Splice_Site SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:40986892G>A ENST00000293362.3 + 4 403 c.243_splice c.e4+1 p.G81_splice PSME3_ENST00000545225.1_Splice_Site_p.G20_splice|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Splice_Site_p.G92_splice|PSME3_ENST00000590720.1_Splice_Site_p.G81_splice NM_005789.3|NM_176863.2 NP_005780.2|NP_789839.1 P61289 PSME3_HUMAN proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) 81 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding NS(1)|cervix(1)|large_intestine(3)|lung(1) 6 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGACTGGATGGTGTAAGTGTC 0.443000 14 50 0 0 0.00185496 0 0 CMC4 100272147 broad.mit.edu 37 X 154292277 154292277 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:154292277G>A ENST00000369484.3 - 2 700 c.22C>T c.(22-24)Cag>Tag p.Q8* CMC4_ENST00000369479.1_Nonsense_Mutation_p.Q8* NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 GCTTGCTTCTGGCACGGATCC 0.328000 32 151 0 0 0.00375469 0 0 STUB1 10273 broad.mit.edu 37 16 732456 732456 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:732456C>T ENST00000565677.1 + 7 1270 c.663C>T c.(661-663)ttC>ttT p.F221F JMJD8_ENST00000454700.1_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|STUB1_ENST00000219548.4_Silent_p.F293F|JMJD8_ENST00000293882.4_3'UTR|STUB1_ENST00000564370.1_Silent_p.F221F|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.10_ENST00000567405.2_RNA Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 293 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) TTGACGCATTCATCTCTGAGA 0.607000 26 108 0 0 0.000720815 0 0 ALDH1A3 220 broad.mit.edu 37 15 101447334 101447334 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:101447334G>T ENST00000329841.5 + 11 1774 c.1242G>T c.(1240-1242)ggG>ggT p.G414G ALDH1A3_ENST00000346623.6_Silent_p.G307G|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 414 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AGATTTTCGGGCCAGTGCAAC 0.398000 10 42 0.000442599 0.00156013 0.000442599 1 0 CST1 1469 broad.mit.edu 37 20 23731395 23731395 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:23731395C>T ENST00000304749.2 - 1 179 c.109G>A c.(109-111)Gca>Aca p.A37T CST1_ENST00000398402.1_Missense_Mutation_p.A37T NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 37 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) TTGAGGTCTGCGTTATAGATG 0.572000 10 50 0 0 0.00136819 0 0 PTPRC 5788 broad.mit.edu 37 1 198713291 198713291 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:198713291G>A ENST00000367376.2 + 26 2971 c.2800G>A c.(2800-2802)Gat>Aat p.D934N PTPRC_ENST00000348564.6_Missense_Mutation_p.D775N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D936N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D886N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D773N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 934 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GAAGAAAAGGGATCCACCCAG 0.373000 6 20 0 0 0.00307968 0 0 RAI1 10743 broad.mit.edu 37 17 17700989 17700989 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:17700989G>A ENST00000353383.1 + 3 5196 c.4727G>A c.(4726-4728)cGc>cAc p.R1576H RAI1_ENST00000261641.6_Missense_Mutation_p.R1576H NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1576 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CCTGAAATCCGCCTCAAGTAC 0.637000 33 104 0 0 0.00209593 0 0 MXD3 83463 broad.mit.edu 37 5 176734658 176734658 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:176734658G>A ENST00000423571.2 - 5 693 c.629C>T c.(628-630)cCg>cTg p.P210L MXD3_ENST00000439742.2_Silent_p.A184A|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Silent_p.A184A Q9BW11 MAD3_HUMAN MAX dimerization protein 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCAGCTCGGCCTCACCCC 0.701000 18 59 0 0 0.000958276 0 0 KAT5 10524 broad.mit.edu 37 11 65484420 65484420 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:65484420C>T ENST00000341318.4 + 10 1465 c.1231C>T c.(1231-1233)Cgc>Tgc p.R411C KAT5_ENST00000534650.1_Missense_Mutation_p.R167C|KAT5_ENST00000530446.1_Missense_Mutation_p.R359C|KAT5_ENST00000352980.4_Missense_Mutation_p.R326C|KAT5_ENST00000377046.3_Missense_Mutation_p.R378C NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 378 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 TCCCTACCAGCGCCGGGGCTA 0.592000 28 85 0 0 0.000878237 0 0 AIFM3 150209 broad.mit.edu 37 22 21332000 21332000 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr22:21332000G>A ENST00000399167.2 + 15 1534 c.1294G>A c.(1294-1296)Gcc>Acc p.A432T AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T|AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGCAGTGCCCGCCACAGGCTT 0.617000 25 53 0 0 0.001512 0 0 EPHA3 2042 broad.mit.edu 37 3 89448639 89448639 + Missense_Mutation SNP T T G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:89448639T>G ENST00000452448.2 + 7 1690 c.1603T>G c.(1603-1605)Tat>Gat p.Y535D EPHA3_ENST00000336596.2_Intron|EPHA3_ENST00000494014.1_Intron NM_182644.2 NP_872585.1 P29320 EPHA3_HUMAN EPH receptor A3 0 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTGTATGTATTATTTCAATGC 0.408000 TSP Lung(6;0.00050) 9 21 0 0 0.000442599 0 0 LAMA4 3910 broad.mit.edu 37 6 112508752 112508752 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:112508752A>G ENST00000230538.7 - 8 1263 c.866T>C c.(865-867)cTc>cCc p.L289P LAMA4_ENST00000424408.2_Missense_Mutation_p.L282P|LAMA4_ENST00000389463.4_Missense_Mutation_p.L282P|LAMA4_ENST00000522006.1_Missense_Mutation_p.L282P NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 289 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTCGATGGAGAGCGCTGCTAA 0.527000 10 33 0 0 0.00074312 0 0 ZBTB40 9923 broad.mit.edu 37 1 22816681 22816681 + Silent SNP G G A rs138737436 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:22816681G>A ENST00000404138.1 + 3 751 c.240G>A c.(238-240)acG>acA p.T80T ZBTB40_ENST00000375647.4_Silent_p.T80T|ZBTB40_ENST00000374651.4_Silent_p.T80T NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 80 BTB. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGATGTACACGGGCAAACTAC 0.463000 9 60 0 0 0.000442599 0 0 ANKRD13A 88455 broad.mit.edu 37 12 110474131 110474131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:110474131G>C ENST00000261739.4 + 14 1741 c.1575G>C c.(1573-1575)gaG>gaC p.E525D C12orf76_ENST00000546651.2_Intron NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 525 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 CCCAGTATGAGAGGTGATTGA 0.517000 28 105 0 0 0.00127121 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097163 202097163 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:202097163C>T ENST00000367282.4 + 2 1031 c.925C>T c.(925-927)Cgc>Tgc p.R309C NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 309 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCAGAACGCCCGCATGTGGTG 0.612000 25 64 0 0 0.00395357 0 0 SH2D4A 63898 broad.mit.edu 37 8 19231062 19231062 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:19231062A>G ENST00000265807.3 + 8 1350 c.939A>G c.(937-939)acA>acG p.T313T SH2D4A_ENST00000518040.1_Silent_p.T268T|SH2D4A_ENST00000519207.1_Silent_p.T313T NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 313 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TGGTGAGGACACTGTCCAGCT 0.408000 10 28 0 0 0.000442599 0 0 SPATA25 128497 broad.mit.edu 37 20 44515635 44515635 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:44515635G>A ENST00000372519.3 - 2 249 c.205C>T c.(205-207)Caa>Taa p.Q69* NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 69 integral to membrane CCCCTGGCTTGTGGCATTGCC 0.637000 45 170 0 0 0.00285205 0 0 GPAM 57678 broad.mit.edu 37 10 113933472 113933472 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:113933472G>A ENST00000348367.4 - 7 742 c.545C>T c.(544-546)tCa>tTa p.S182L GPAM_ENST00000369425.1_Missense_Mutation_p.S182L|GPAM_ENST00000423155.1_Missense_Mutation_p.S182L Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 182 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) CATTGCCGGTGAGACAGTGGC 0.403000 19 47 0 0 0.00074312 0 0 MATN2 4147 broad.mit.edu 37 8 99039681 99039681 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:99039681C>T ENST00000254898.5 + 14 2211 c.1980C>T c.(1978-1980)atC>atT p.I660I RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.I619I|MATN2_ENST00000522025.2_Silent_p.I376I|MATN2_ENST00000521689.1_Silent_p.I660I|MATN2_ENST00000520016.1_Silent_p.I660I NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 660 VWFA 2. proteinaceous extracellular matrix calcium ion binding p.I660I(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCTTTGTGATCGATGGATCCA 0.403000 26 85 0 0 0.001512 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011425 34011425 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:34011425G>A ENST00000382499.2 - 31 3824 c.3825C>T c.(3823-3825)ttC>ttT p.F1275F SYNJ1_ENST00000433931.2_Silent_p.F1275F|SYNJ1_ENST00000382491.3_Silent_p.F1189F|SYNJ1_ENST00000357345.3_Silent_p.F1220F|SYNJ1_ENST00000322229.7_Silent_p.F1236F NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1236 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GTTCAGGAAGGAAAGTTGAAC 0.453000 22 88 0 0 0.00188189 0 0 ZNF629 23361 broad.mit.edu 37 16 30793311 30793311 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:30793311G>A ENST00000262525.4 - 3 2545 c.2338C>T c.(2338-2340)Cgc>Tgc p.R780C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AGGGCCACGCGGTCGAGGAAG 0.647000 44 145 0 0 0.00361006 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708626 108708626 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:108708626C>G ENST00000218006.2 - 3 1068 c.777G>C c.(775-777)caG>caC p.Q259H NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 259 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AGAGATGCATCTGAGTCTCTC 0.413000 44 127 0 0 0.00361006 0 0 BTN2A2 10385 broad.mit.edu 37 6 26388333 26388333 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:26388333C>T ENST00000356709.4 + 4 646 c.535C>T c.(535-537)Ctc>Ttc p.L179F BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L179F|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L179F|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L63F NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 179 Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CCCAGAGCCCCTCACAGTGTG 0.582000 16 60 0 0 0.00400662 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872923 35872923 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:35872923G>A ENST00000216797.5 - 2 410 c.309C>T c.(307-309)ttC>ttT p.F103F NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Silent_p.F13F|NFKBIA_ENST00000557140.1_Silent_p.F103F NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 103 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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 cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGAAGTTGAGGAAGGCCAGGT 0.582000 6 28 0 0 0.00116845 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297245 144297245 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:144297245G>A ENST00000330824.2 + 4 482 c.407G>A c.(406-408)tGc>tAc p.C136Y NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 136 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCCAGCCTGTGCAATGTCCCA 0.672000 22 65 0 0 0.00332997 0 0 ZNF48 197407 broad.mit.edu 37 16 30409298 30409298 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:30409298C>T ENST00000320159.2 + 2 1103 c.727C>T c.(727-729)Cgg>Tgg p.R243W NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R243W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GCGGACACACCGGGGGGAGCA 0.647000 10 61 0 0 0.000978159 0 0 TLR6 10333 broad.mit.edu 37 4 38828928 38828928 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:38828928G>C ENST00000436693.2 - 2 2286 c.2167C>G c.(2167-2169)Ctc>Gtc p.L723V TLR6_ENST00000381950.1_Missense_Mutation_p.L723V NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 723 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCATGAAAGAGATTGTGATGG 0.423000 54 132 0 0 0.00361006 0 0 A2ML1 144568 broad.mit.edu 37 12 9021141 9021141 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:9021141G>A ENST00000299698.7 + 32 4250 c.4070G>A c.(4069-4071)gGg>gAg p.G1357E A2ML1_ENST00000539547.1_Missense_Mutation_p.G866E NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1201 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 AGTTATGTGGGGAGCCGTAGC 0.463000 40 97 0 0 0.00195071 0 0 SRPX 8406 broad.mit.edu 37 X 38009042 38009042 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:38009042G>A ENST00000378533.3 - 10 1423 c.1317C>T c.(1315-1317)ttC>ttT p.F439F SRPX_ENST00000343800.6_Silent_p.F426F|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000432886.2_Silent_p.F380F|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Silent_p.F419F NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 439 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 CAATCAGGTTGAACAGGGCCA 0.498000 18 48 0 0 0.00074312 0 0 KIAA1199 57214 broad.mit.edu 37 15 81230170 81230170 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:81230170G>A ENST00000394685.3 + 25 3676 c.3257G>A c.(3256-3258)cGa>cAa p.R1086Q RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1086Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1086Q Q8WUJ3 K1199_HUMAN KIAA1199 1086 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGCTACCCGCGAGGCACCACA 0.572000 37 91 0 0 0.00375469 0 0 GIGYF1 64599 broad.mit.edu 37 7 100280033 100280033 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:100280033C>T ENST00000275732.5 - 21 3882 c.2673G>A c.(2671-2673)ctG>ctA p.L891L NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 891 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCCCTGCAGCAGCTTCAGCA 0.637000 8 42 0 0 0.00307968 0 0 PRB3 5544 broad.mit.edu 37 12 11422583 11422583 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:11422583C>T ENST00000381842.3 - 0 58 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GCAGGGCCACCGACAGCAGAA 0.532000 18 69 0 0 0.000958276 0 0 CTH 1491 broad.mit.edu 37 1 70900825 70900825 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:70900825G>C ENST00000411986.2 + 9 1119 c.921G>C c.(919-921)gaG>gaC p.E307D CTH_ENST00000346806.2_Missense_Mutation_p.E295D|CTH_ENST00000370938.3_Missense_Mutation_p.E339D NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 339 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CTCTGGCCGAGAGCTTGGGAG 0.323000 7 20 0 0 0.000274275 0 0 CUX1 1523 broad.mit.edu 37 7 101559408 101559408 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:101559408C>A ENST00000360264.3 + 2 97 c.77C>A c.(76-78)gCc>gAc p.A26D CUX1_ENST00000437600.4_Missense_Mutation_p.A26D|CUX1_ENST00000549414.2_Missense_Mutation_p.A15D|CUX1_ENST00000556210.1_Missense_Mutation_p.A15D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.A15D|CUX1_ENST00000547394.2_Missense_Mutation_p.A26D|CUX1_ENST00000550008.2_Missense_Mutation_p.A15D|CUX1_ENST00000425244.2_Missense_Mutation_p.A26D|CUX1_ENST00000292538.4_Missense_Mutation_p.A26D|CUX1_ENST00000292535.7_Missense_Mutation_p.A15D NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 15 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAACTCGATGCCACCGCAACG 0.498000 39 146 1.15183e-24 4.59434e-24 0.00222228 1 0 SLC17A9 63910 broad.mit.edu 37 20 61598820 61598820 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:61598820G>A ENST00000370349.3 + 14 1465 c.1261G>A c.(1261-1263)Gtg>Atg p.V421M SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V427M Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 427 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGCTCAGAGGGTGGACCTGAG 0.617000 33 117 0 0 0.00428921 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145763114 145763114 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:145763114C>G ENST00000377307.2 - 6 2689 c.2605G>C c.(2605-2607)Gag>Cag p.E869Q ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron NM_025251.1 NP_079527.1 Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 840 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCATCCGGCTCTTCAACATAA 0.552000 31 97 0 0 0.00283554 0 0 OR2L2 26246 broad.mit.edu 37 1 248201622 248201622 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:248201622C>A ENST00000366479.2 + 1 149 c.53C>A c.(52-54)cCa>cAa p.P18Q OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGGCTGTTCCCACAATCAAGA 0.368000 43 135 1.38162e-09 5.17986e-09 0.00195071 1 0 NOVA2 4858 broad.mit.edu 37 19 46443312 46443312 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:46443312C>T ENST00000263257.5 - 4 1482 c.1288G>A c.(1288-1290)Gtg>Atg p.V430M NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 430 KH 3. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) TGGTACTCCACCAACGTCTTG 0.662000 43 124 0 0 0.00285205 0 0 SLC45A3 85414 broad.mit.edu 37 1 205631061 205631061 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:205631061G>A ENST00000367145.3 - 4 1447 c.1152C>T c.(1150-1152)ctC>ctT p.L384L SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 384 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TGAACCCGGTGAGGGCGGCTG 0.622000 T """ETV1, ETV5, ELK4, ERG""" prostate 11 48 0 0 0.000978159 0 0 GNAT3 346562 broad.mit.edu 37 7 80141221 80141221 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:80141221C>T ENST00000398291.3 - 1 115 c.22G>A c.(22-24)Gag>Aag p.E8K CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 8 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 TCCTTGCTCTCTGAACTAATT 0.418000 9 18 0 0 0.000274275 0 0 PAMR1 25891 broad.mit.edu 37 11 35456112 35456112 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:35456112C>T ENST00000378880.2 - 10 2019 c.1574G>A c.(1573-1575)gGg>gAg p.G525E PAMR1_ENST00000532848.1_Missense_Mutation_p.G485E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G414E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542E NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 525 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GTAGAATTTCCCCAAAACAAC 0.537000 23 107 0 0 0.00332997 0 0 PACS2 23241 broad.mit.edu 37 14 105843172 105843172 + Missense_Mutation SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:105843172A>T ENST00000447393.1 + 9 1044 c.869A>T c.(868-870)tAt>tTt p.Y290F PACS2_ENST00000547217.1_Missense_Mutation_p.Y260F|PACS2_ENST00000430725.2_Missense_Mutation_p.Y215F|PACS2_ENST00000458164.2_Missense_Mutation_p.Y290F|PACS2_ENST00000325438.8_Missense_Mutation_p.Y290F NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 290 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GACCTCCTGTATGACACCCTG 0.667000 23 38 0 0 0.00278032 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687810 68687810 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:68687810C>A ENST00000361320.4 + 2 1714 c.1136C>A c.(1135-1137)aCg>aAg p.T379K CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 379 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CCAAAGCCGACGTTTAAGCCC 0.577000 17 58 1.99824e-07 7.41304e-07 0.000566183 1 0 AOC3 8639 broad.mit.edu 37 17 41006513 41006513 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:41006513C>A ENST00000308423.2 + 2 1809 c.1649C>A c.(1648-1650)gCt>gAt p.A550D AOC3_ENST00000591562.1_Missense_Mutation_p.A7D NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 550 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GTCCCCATGGCTGTGCCCTGG 0.662000 17 48 8.00594e-06 2.89908e-05 0.000958276 1 0 TESPA1 9840 broad.mit.edu 37 12 55356756 55356756 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:55356756C>T ENST00000524622.1 - 7 1173 c.512G>A c.(511-513)aGg>aAg p.R171K TESPA1_ENST00000531122.1_Missense_Mutation_p.R171K|TESPA1_ENST00000449076.1_Missense_Mutation_p.R309K|TESPA1_ENST00000532804.1_Missense_Mutation_p.R171K|TESPA1_ENST00000316577.8_Missense_Mutation_p.R309K NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 309 CAAACTGTTCCTTTTGGGGGT 0.532000 15 46 0 0 0.00316338 0 0 PACSIN1 29993 broad.mit.edu 37 6 34496436 34496436 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:34496436C>T ENST00000538621.1 + 4 483 c.238C>T c.(238-240)Ctg>Ttg p.L80L PACSIN1_ENST00000374043.2_Silent_p.L38L|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Silent_p.L80L NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 80 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GTATGGCAGCCTGGAGCGGGC 0.582000 37 131 0 0 0.00428921 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630439 43630439 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:43630439C>A ENST00000431635.2 - 9 1058 c.910G>T c.(910-912)Ggt>Tgt p.G304C EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.G249C NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 249 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCACCAAAACCAAACTTCTGG 0.483000 19 60 1.15919e-05 4.15506e-05 0.00121646 1 0 SERPINA4 5267 broad.mit.edu 37 14 95035800 95035800 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:95035800G>A ENST00000557004.1 + 5 1573 c.1152G>A c.(1150-1152)gcG>gcA p.A384A SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.A384A|SERPINA4_ENST00000298841.5_Silent_p.A384A P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 384 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCAGCTTCGCGATCAAATTCT 0.547000 24 52 0 0 0.00395357 0 0 RGAG4 340526 broad.mit.edu 37 X 71351044 71351044 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:71351044C>T ENST00000545866.1 - 1 714 c.347G>A c.(346-348)gGg>gAg p.G116E RGAG4_ENST00000479991.1_Missense_Mutation_p.G116E|NHSL2_ENST00000540800.1_Intron Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 116 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GTCAGCGGGCCCGTCGGGGGT 0.697000 6 12 0 0 0.00198382 0 0 HADHB 3032 broad.mit.edu 37 2 26500001 26500001 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:26500001A>G ENST00000317799.5 + 7 519 c.415A>G c.(415-417)Atc>Gtc p.I139V HADHB_ENST00000545822.1_Missense_Mutation_p.I117V|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I139V|HADHB_ENST00000537713.1_Missense_Mutation_p.I124V NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 139 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATGGCTTGTATCTCTGCCAA 0.403000 14 19 0 0 0.00316338 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805805 31805805 + RNA SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:31805805G>T ENST00000405650.1 - 0 331 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GGCAGCTCCTGCAGGAACCAG 0.706000 22 13 1.1804e-14 4.5213e-14 0.00395357 1 0 DPY19L2 283417 broad.mit.edu 37 12 63964555 63964555 + Nonsense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:63964555G>T ENST00000324472.4 - 20 2166 c.1983C>A c.(1981-1983)taC>taA p.Y661* DPY19L2_ENST00000413230.2_Nonsense_Mutation_p.Y108* NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 661 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CTGCATCTTCGTAATGTGGAT 0.418000 18 89 1.33834e-09 5.03537e-09 0.000958276 1 0 FSCB 84075 broad.mit.edu 37 14 44975031 44975031 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:44975031G>A ENST00000340446.4 - 1 1451 c.1160C>T c.(1159-1161)cCc>cTc p.P387L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 387 Pro-rich. cilium p.P387L(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TTGTGCTGAGGGAGACCGAAT 0.527000 33 111 0 0 0.00375469 0 0 C1orf168 199920 broad.mit.edu 37 1 57209833 57209833 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:57209833C>T ENST00000343433.6 - 10 1574 c.1494G>A c.(1492-1494)agG>agA p.R498R C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 498 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ACACCTCTTTCCTGGAGTACT 0.408000 27 91 0 0 0.000720815 0 0 PROSC 11212 broad.mit.edu 37 8 37623261 37623261 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:37623261C>A ENST00000328195.3 + 3 307 c.240C>A c.(238-240)ccC>ccA p.P80P NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 80 pyridoxal phosphate binding p.P80P(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) CATCAAATCCCAAAGTAAGTA 0.383000 6 222 0.00116845 0.00410504 0.00116845 1 0 OSMR 9180 broad.mit.edu 37 5 38933124 38933124 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:38933124C>T ENST00000274276.3 + 18 2920 c.2518C>T c.(2518-2520)Ctc>Ttc p.L840F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 840 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTACCTTTATCTCCTTCCAAC 0.468000 37 137 0 0 0.000953801 0 0 GBP5 115362 broad.mit.edu 37 1 89729518 89729518 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:89729518C>A ENST00000343435.5 - 9 1799 c.1263G>T c.(1261-1263)aaG>aaT p.K421N RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.K421N|GBP5_ENST00000481145.1_5'UTR NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 421 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) AAATTCCCTGCTTCACTGCTT 0.423000 54 150 1.86277e-20 7.34721e-20 0.00361006 1 0 AKT2 208 broad.mit.edu 37 19 40739814 40739814 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:40739814G>A ENST00000392038.2 - 14 1709 c.1411C>T c.(1411-1413)Ccc>Tcc p.P471S AKT2_ENST00000311278.6_Missense_Mutation_p.P428S|AKT2_ENST00000424901.1_Missense_Mutation_p.P471S NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 471 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GAGAACTGGGGGAAGTGGGTC 0.642000 A """ovarian, pancreatic """ 10 26 0 0 0.000673444 0 0 CLVS2 134829 broad.mit.edu 37 6 123332247 123332247 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:123332247C>T ENST00000275162.4 + 3 1842 c.507C>T c.(505-507)ttC>ttT p.F169F CLVS2_ENST00000368438.1_Silent_p.F23F NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 169 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACTTCACTTTCAAGCAAGCCT 0.413000 14 75 0 0 0.00316338 0 0 MLKL 197259 broad.mit.edu 37 16 74719469 74719469 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:74719469C>G ENST00000308807.7 - 5 1198 c.735G>C c.(733-735)caG>caC p.Q245H MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 245 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TATTGAAAGTCTGCCTCACTA 0.398000 3 23 0 0 6.4e-05 0 0 MAOB 4129 broad.mit.edu 37 X 43652760 43652760 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:43652760C>A ENST00000378069.4 - 8 981 c.834G>T c.(832-834)ctG>ctT p.L278L MAOB_ENST00000538942.1_Silent_p.L262L|MAOB_ENST00000536181.1_Silent_p.L262L NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 278 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCATCATTGGCAGAGGGGGAT 0.413000 24 63 1.42536e-11 5.42044e-11 0.000720815 1 0 NPHP1 4867 broad.mit.edu 37 2 110962526 110962526 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:110962526C>A ENST00000316534.4 - 1 93 c.20G>T c.(19-21)cGa>cTa p.R7L NPHP1_ENST00000417665.1_Missense_Mutation_p.R7L|NPHP1_ENST00000393272.3_Missense_Mutation_p.R7L|NPHP1_ENST00000355301.4_Missense_Mutation_p.R7L|NPHP1_ENST00000445609.2_Missense_Mutation_p.R7L|NPHP1_ENST00000418527.1_Missense_Mutation_p.R7L O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 7 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 GAGAGGATCTCGCTGTCGTCT 0.662000 5 48 2.7689e-08 1.03081e-07 0.00198382 1 0 PTK2B 2185 broad.mit.edu 37 8 27289833 27289833 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:27289833G>A ENST00000397501.1 + 15 1750 c.942G>A c.(940-942)gaG>gaA p.E314E PTK2B_ENST00000420218.2_Silent_p.E314E|PTK2B_ENST00000517339.1_Silent_p.E314E|PTK2B_ENST00000544172.1_Silent_p.E314E|PTK2B_ENST00000346049.5_Silent_p.E314E|PTK2B_ENST00000338238.4_Silent_p.E314E|PTK2B_ENST00000397497.4_Silent_p.E60E NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 314 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCCCGCTGGAGGAGGGCCAGG 0.622000 7 28 0 0 0.00307968 0 0 HDAC4 9759 broad.mit.edu 37 2 240036972 240036972 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:240036972G>A ENST00000345617.3 - 13 2344 c.1553C>T c.(1552-1554)cCg>cTg p.P518L HDAC4_ENST00000543185.1_Missense_Mutation_p.P102L|HDAC4_ENST00000541256.1_Missense_Mutation_p.P492L NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 518 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTGGCTCTCCGGCTGCCGGGC 0.652000 31 53 0 0 0.00327116 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112633 148112633 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:148112633G>A ENST00000361727.3 + 24 4437 c.3921G>A c.(3919-3921)gcG>gcA p.A1307A CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.A366A NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1307 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) CAGAGAGCGCGGACGCCGCCA 0.552000 HNSCC(39;0.1) 15 58 0 0 0.00244969 0 0 DOCK7 85440 broad.mit.edu 37 1 62960063 62960063 + Silent SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:62960063T>C ENST00000251157.5 - 40 5106 c.5073A>G c.(5071-5073)gaA>gaG p.E1691E DOCK7_ENST00000340370.5_Silent_p.E1669E NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1700 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GATTGCTTCGTTCTGAGTGCT 0.478000 17 56 0 0 0.000958276 0 0 CHD6 84181 broad.mit.edu 37 20 40049688 40049688 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:40049688G>A ENST00000373233.3 - 31 5764 c.5587C>T c.(5587-5589)Cac>Tac p.H1863Y NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1863 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) tcatcACTGTGGTTCTGACTC 0.428000 20 72 0 0 0.000958276 0 0 TET3 200424 broad.mit.edu 37 2 74328683 74328683 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:74328683G>A ENST00000409262.3 + 9 4363 c.4363G>A c.(4363-4365)Gag>Aag p.E1455K NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1455 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGATCCAGCGAGAAGCTGTT 0.652000 6 15 0 0 0.00116845 0 0 FAXDC2 10826 broad.mit.edu 37 5 154214195 154214195 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:154214195G>A ENST00000326080.5 - 4 657 c.234C>T c.(232-234)ctC>ctT p.L78L FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000520968.1_Silent_p.L78L|FAXDC2_ENST00000517938.1_Silent_p.L55L|FAXDC2_ENST00000518651.1_Silent_p.L55L NM_032385.3 NP_115761.2 fatty acid hydroxylase domain containing 2 CTATAAAGAAGAGGATCCACT 0.453000 13 40 0 0 0.00185496 0 0 GUSB 2990 broad.mit.edu 37 7 65439597 65439597 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:65439597G>A ENST00000304895.4 - 7 1290 c.1160C>T c.(1159-1161)cCc>cTc p.P387L GUSB_ENST00000421103.1_Missense_Mutation_p.P241L|GUSB_ENST00000345660.6_Missense_Mutation_p.P336L NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 387 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CTCTGCATAGGGGTAGTGGCT 0.597000 19 59 0 0 0.00152264 0 0 CPB2 1361 broad.mit.edu 37 13 46632457 46632457 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:46632457C>G ENST00000181383.4 - 9 872 c.856G>C c.(856-858)Gaa>Caa p.E286Q CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E249Q|CPB2-AS1_ENST00000606991.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 286 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ACTTCTGGTTCTGACTCAGGA 0.428000 16 91 0 0 0.000566183 0 0 DVL1 1855 broad.mit.edu 37 1 1273500 1273500 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:1273500G>A ENST00000378888.5 - 14 1855 c.1571C>T c.(1570-1572)cCg>cTg p.P524L DVL1_ENST00000378891.5_Missense_Mutation_p.P499L O14640 DVL1_HUMAN dishevelled segment polarity protein 1 524 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GTGGGGCAGCGGGGCCAGCGT 0.721000 7 16 0 0 0.00307968 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72005625 72005625 + Silent SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:72005625C>G ENST00000378743.3 - 32 6028 c.5670G>C c.(5668-5670)ctG>ctC p.L1890L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1890 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTTGAAGTTTCAGAATCTGAA 0.363000 12 45 0 0 0.00400662 0 0 REV3L 5980 broad.mit.edu 37 6 111693797 111693797 + Splice_Site SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:111693797A>G ENST00000435970.1 - 15 6342 c.e15+1 REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site|REV3L_ENST00000368802.3_Splice_Site O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ATAACTGATTACCTGGGCTTT 0.348000 DNA polymerases (catalytic subunits) 18 67 0 0 0.000566183 0 0 LIPI 149998 broad.mit.edu 37 21 15561401 15561401 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:15561401G>T ENST00000344577.2 - 2 474 c.449C>A c.(448-450)aCc>aAc p.T150N LIPI_ENST00000536861.1_Missense_Mutation_p.T129N NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 129 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AACTTTTCTGGTGTTTTTAAC 0.328000 9 61 7.48243e-07 2.75655e-06 0.000442599 1 0 DEFA4 1669 broad.mit.edu 37 8 6794389 6794389 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:6794389G>T ENST00000297435.2 - 2 157 c.33C>A c.(31-33)ctC>ctA p.L11L NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 11 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GGGCTACCAAGAGAATAGCAG 0.602000 8 37 0.000157383 0.000558474 0.00307968 1 0 IRF1 3659 broad.mit.edu 37 5 131819732 131819732 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131819732C>T ENST00000245414.4 - 10 1147 c.889G>A c.(889-891)Gat>Aat p.D297N IRF1_ENST00000405885.2_Missense_Mutation_p.D297N NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 297 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TTCTTCAGATCTGTGAAGACA 0.582000 18 77 0 0 0.00152264 0 0 MYH4 4622 broad.mit.edu 37 17 10348460 10348460 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:10348460C>A ENST00000255381.2 - 37 5409 c.5299G>T c.(5299-5301)Gcc>Tcc p.A1767S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1767 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCCATCATGGCAGCCTAGTTA 0.473000 53 159 3.4597e-24 1.37481e-23 0.00361006 1 0 IRF1 3659 broad.mit.edu 37 5 131820143 131820143 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131820143C>T ENST00000245414.4 - 9 1022 c.764G>A c.(763-765)gGg>gAg p.G255E IRF1_ENST00000405885.2_Missense_Mutation_p.G255E NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 255 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) GAGTAGGTACCCCTTCCCATC 0.552000 22 141 0 0 0.00229938 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777495 43777495 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:43777495G>A ENST00000389420.3 - 31 4662 c.4663C>T c.(4663-4665)Cga>Tga p.R1555* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1555 TSP type-1 13. proteinaceous extracellular matrix zinc ion binding p.R1555*(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CACTCCATTCGTTGATGTGAA 0.343000 8 55 0 0 0.000274275 0 0 KIF21B 23046 broad.mit.edu 37 1 200954056 200954056 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:200954056C>T ENST00000332129.2 - 27 4050 c.3734G>A c.(3733-3735)cGg>cAg p.R1245Q KIF21B_ENST00000422435.2_Missense_Mutation_p.R1245Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1245Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1245Q NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1245 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATTGCGGGGCCGAGTGGGAGG 0.627000 12 48 0 0 0.00244969 0 0 JPH3 57338 broad.mit.edu 37 16 87636924 87636924 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:87636924G>A ENST00000284262.2 + 1 414 c.172G>A c.(172-174)Ggc>Agc p.G58S NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 58 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CTGGCCCAGCGGCAACACGTA 0.682000 9 27 0 0 0.000442599 0 0 TMC3 342125 broad.mit.edu 37 15 81648086 81648086 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:81648086C>G ENST00000558726.1 - 9 1050 c.915G>C c.(913-915)gaG>gaC p.E305D TMC3_ENST00000359440.5_Missense_Mutation_p.E305D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 305 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TTTTCTTTTTCTCCTGTTCTT 0.284000 14 44 0 0 0.00074312 0 0 EDA 1896 broad.mit.edu 37 X 69253320 69253320 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:69253320G>A ENST00000374552.4 + 7 1108 c.866G>A c.(865-867)cGc>cAc p.R289H EDA_ENST00000524573.1_Missense_Mutation_p.R286H|EDA_ENST00000374553.2_Missense_Mutation_p.R289H NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 289 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 CTACATCCCCGCAGCGGGGAG 0.498000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 116 0 0 0.00283554 0 0 FADS2 9415 broad.mit.edu 37 11 61632693 61632693 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:61632693G>T ENST00000278840.4 + 11 1857 c.1227G>T c.(1225-1227)aaG>aaT p.K409N FADS2_ENST00000522056.1_Missense_Mutation_p.K378N|FADS2_ENST00000257261.6_Missense_Mutation_p.K387N NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 409 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) TATGTGCCAAGCATGGCATTG 0.612000 18 55 4.75885e-15 1.83605e-14 0.000566183 1 0 HOXC11 3227 broad.mit.edu 37 12 54367367 54367367 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:54367367C>A ENST00000546378.1 + 1 458 c.342C>A c.(340-342)ctC>ctA p.L114L HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.L114L|HOTAIR_ENST00000455246.1_RNA O43248 HXC11_HUMAN homeobox C11 114 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 CCGAGATCCTCATGAAAAACG 0.637000 T NUP98 AML 54 193 2.47907e-22 9.81451e-22 0.00361006 1 0 MIR31HG 554202 broad.mit.edu 37 9 21455940 21455940 + RNA SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:21455940C>G ENST00000304425.3 - 0 445 NR_027054.1 GAATCCATCTCTACCTGAAAG 0.473000 6 4 0 0 0.00116845 0 0 CATSPER2 117155 broad.mit.edu 37 15 43927989 43927989 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:43927989C>T ENST00000396879.1 - 10 1169 c.1057G>A c.(1057-1059)Gag>Aag p.E353K CATSPER2_ENST00000381761.1_Missense_Mutation_p.E359K|CATSPER2_ENST00000321596.5_Missense_Mutation_p.E353K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.E353K|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.E353K Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 353 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCCATCTCCTCATTCAGCTCT 0.502000 16 43 0 0 0.00400662 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206550 142206550 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:142206550C>T ENST00000426318.2 - 0 355 TGTCTGGGAGCGGGTAGCTGA 0.522000 23 70 0 0 0.000878237 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891362 2891362 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr18:2891362G>A ENST00000254528.3 + 4 1396 c.1237G>A c.(1237-1239)Gac>Aac p.D413N NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 413 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CAAGACATTGGACCAGAAAAT 0.473000 9 45 0 0 0.000274275 0 0 JMJD8 339123 broad.mit.edu 37 16 733066 733066 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:733066C>T ENST00000293882.4 - 8 810 c.811G>A c.(811-813)Gag>Aag p.E271K JMJD8_ENST00000454700.1_Missense_Mutation_p.E241K|JMJD8_ENST00000562824.1_Missense_Mutation_p.E171K|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000412368.2_Missense_Mutation_p.E222K Q96S16 JMJD8_HUMAN jumonji domain containing 8 271 JmjC. breast(1) 1 GGCGTCTTCTCAGGTGGGTAA 0.637000 28 89 0 0 0.00178596 0 0 NFATC4 4776 broad.mit.edu 37 14 24845916 24845916 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:24845916C>T ENST00000413692.2 + 10 2806 c.2662C>T c.(2662-2664)Ccc>Tcc p.P888S NFATC4_ENST00000553708.1_Missense_Mutation_p.P825S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P755S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P857S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P838S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P857S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P825S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P838S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P813S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P813S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P113S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P755S|NFATC4_ENST00000555167.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P113S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.P755S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 825 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GCTTGAAGGCCCCTTCCCTTC 0.642000 40 181 0 0 0.00195071 0 0 CD209 30835 broad.mit.edu 37 19 7809868 7809868 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:7809868C>T ENST00000315599.7 - 5 881 c.859G>A c.(859-861)Gtg>Atg p.V287M CD209_ENST00000601951.1_Missense_Mutation_p.V263M|CD209_ENST00000601256.1_Missense_Mutation_p.V263M|CD209_ENST00000301357.8_Missense_Mutation_p.V151M|CD209_ENST00000394173.4_Missense_Mutation_p.V126M|CD209_ENST00000204801.8_Missense_Mutation_p.V243M|CD209_ENST00000602261.1_Missense_Mutation_p.V195M|CD209_ENST00000315591.8_Missense_Mutation_p.V263M|CD209_ENST00000593821.1_Missense_Mutation_p.V151M|CD209_ENST00000593660.1_Missense_Mutation_p.V217M|CD209_ENST00000354397.6_Missense_Mutation_p.V287M|CD209_ENST00000394161.5_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 287 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGGGCCCCCACTTCTTTGCAG 0.587000 17 80 0 0 0.000566183 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713559 30713559 + Nonsense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:30713559C>G ENST00000295754.5 + 4 1266 c.884C>G c.(883-885)tCa>tGa p.S295* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 295 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.S295*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GACATCTTCTCAGACATCAAT 0.493000 24 55 0 0 0.000878237 0 0 GPR25 2848 broad.mit.edu 37 1 200842300 200842300 + Silent SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:200842300C>G ENST00000304244.2 + 1 218 c.135C>G c.(133-135)ctC>ctG p.L45L NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 45 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 TCCCCGCGCTCTACCTGGCGG 0.721000 5 18 0 0 0.00116845 0 0 KIF17 57576 broad.mit.edu 37 1 21031314 21031314 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:21031314G>A ENST00000247986.2 - 5 1059 c.749C>T c.(748-750)aCc>aTc p.T250I KIF17_ENST00000400463.3_Missense_Mutation_p.T250I|KIF17_ENST00000375044.1_Missense_Mutation_p.T150I Q9P2E2 KIF17_HUMAN kinesin family member 17 250 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CGTGGCCCCGGTCTTGGACTG 0.667000 11 78 0 0 0.00136819 0 0 GSAP 54103 broad.mit.edu 37 7 76950665 76950665 + Missense_Mutation SNP G G A rs6950836 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:76950665G>A ENST00000257626.7 - 25 2057 c.1979C>T c.(1978-1980)tCc>tTc p.S660F GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron NM_017439.3 NP_059135.2 gamma-secretase activating protein GAGAACCCAGGAATGAAGATT 0.423000 5 21 0 0 0.00116845 0 0 CRB2 286204 broad.mit.edu 37 9 126136903 126136903 + Silent SNP C C T rs148933240 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:126136903C>T ENST00000373631.3 + 11 3436 c.3435C>T c.(3433-3435)ctC>ctT p.L1145L CRB2_ENST00000373629.2_Silent_p.L813L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 1145 EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding p.L1145L(1) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCACCTGCCTCGATGGCAGCC 0.657000 20 28 0 0 0.00121646 0 0 ABHD17B 51104 broad.mit.edu 37 9 74489807 74489807 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:74489807C>A ENST00000333421.6 - 2 301 c.190G>T c.(190-192)Gat>Tat p.D64Y ABHD17B_ENST00000377041.2_Missense_Mutation_p.D64Y NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B TCAATAGCATCTTTTTCTCTA 0.413000 7 70 5.18039e-06 1.8888e-05 0.00307968 1 0 C11orf87 399947 broad.mit.edu 37 11 109294892 109294892 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:109294892C>A ENST00000327419.6 + 2 936 c.533C>A c.(532-534)gCa>gAa p.A178E RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 178 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGAGCACACGCAGCTTCCTCC 0.637000 21 34 4.35082e-09 1.62543e-08 0.00152264 1 0 ZNF211 10520 broad.mit.edu 37 19 58152875 58152875 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:58152875T>C ENST00000544273.1 + 5 1384 c.1057T>C c.(1057-1059)Tat>Cat p.Y353H ZNF211_ENST00000420680.1_Missense_Mutation_p.Y345H|ZNF211_ENST00000391703.3_Missense_Mutation_p.Y280H|ZNF211_ENST00000347302.3_Missense_Mutation_p.Y341H|ZNF211_ENST00000299871.5_Missense_Mutation_p.Y406H|ZNF211_ENST00000240731.4_Missense_Mutation_p.Y354H|ZNF211_ENST00000541801.1_Missense_Mutation_p.Y332H|ZNF211_ENST00000254182.7_Missense_Mutation_p.Y332H Q13398 ZN211_HUMAN zinc finger protein 211 341 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAAAGGCCTTATGAATGTGG 0.463000 17 56 0 0 0.000566183 0 0 TMEM159 57146 broad.mit.edu 37 16 21181823 21181823 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:21181823C>T ENST00000233047.4 + 3 630 c.162C>T c.(160-162)acC>acT p.T54T TMEM159_ENST00000572599.1_Silent_p.T54T|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Silent_p.T54T|TMEM159_ENST00000451578.2_Silent_p.T78T|TMEM159_ENST00000572258.1_Silent_p.T54T Q96B96 TM159_HUMAN transmembrane protein 159 54 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) TGGCCTTCACCTTGCTGGTGT 0.522000 38 124 0 0 0.00170553 0 0 SLF2 55719 broad.mit.edu 37 10 102676401 102676401 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:102676401G>C ENST00000238961.3 + 3 407 c.259G>C c.(259-261)Gag>Cag p.E87Q FAM178A_ENST00000370271.3_Missense_Mutation_p.E87Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E87Q NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 87 CACTGGGACAGAGCAGTTTGA 0.373000 10 26 0 0 0.000673444 0 0 PKHD1 5314 broad.mit.edu 37 6 51921548 51921548 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:51921548G>A ENST00000371117.3 - 18 1916 c.1641C>T c.(1639-1641)tgC>tgT p.C547C PKHD1_ENST00000340994.4_Silent_p.C547C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 547 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTTCCAGTTTGCATTTTACTG 0.413000 24 82 0 0 0.00332997 0 0 ULK1 8408 broad.mit.edu 37 12 132401500 132401500 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:132401500C>T ENST00000321867.4 + 21 2426 c.2075C>T c.(2074-2076)tCt>tTt p.S692F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 692 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TCCCACAGGTCTTTCAGCACC 0.657000 5 44 0 0 0.000602214 0 0 TRIML1 339976 broad.mit.edu 37 4 189068147 189068147 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:189068147G>T ENST00000332517.3 + 6 1168 c.1028G>T c.(1027-1029)tGg>tTg p.W343L TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 343 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGACACTACTGGGAGGTGGAG 0.567000 14 85 0.000151284 0.000538634 0.00185496 1 0 TOX3 27324 broad.mit.edu 37 16 52484290 52484290 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:52484290C>T ENST00000219746.9 - 4 861 c.577G>A c.(577-579)Gcc>Acc p.A193T TOX3_ENST00000407228.3_Missense_Mutation_p.A188T NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 193 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GGCATACTGGCACCTCCCAAA 0.567000 36 122 0 0 0.000953801 0 0 AKT1S1 84335 broad.mit.edu 37 19 50374957 50374957 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:50374957C>T ENST00000391833.1 - 3 2463 c.474G>A c.(472-474)gaG>gaA p.E158E AKT1S1_ENST00000391835.1_Silent_p.E178E|AKT1S1_ENST00000391831.1_Silent_p.E158E|AKT1S1_ENST00000391832.3_Silent_p.E158E|AKT1S1_ENST00000391834.2_Silent_p.E158E|AKT1S1_ENST00000344175.5_Silent_p.E158E NM_001278160.1 NP_001265089.1 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 158 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CGGGGGTCTCCTCGCTCAGGC 0.667000 26 72 0 0 0.00395357 0 0 ADGRG6 57211 broad.mit.edu 37 6 142764560 142764560 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:142764560G>C ENST00000367609.3 + 25 4062 c.3661G>C c.(3661-3663)Gat>Cat p.D1221H GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.D1193H NM_198569.2 NP_940971.1 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCAGGTCATTGATAAGGTCAA 0.398000 52 168 0 0 0.00361006 0 0 PDZD2 23037 broad.mit.edu 37 5 32088220 32088220 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:32088220G>A ENST00000438447.1 + 20 5054 c.4666G>A c.(4666-4668)Gag>Aag p.E1556K PDZD2_ENST00000282493.3_Missense_Mutation_p.E1556K O15018 PDZD2_HUMAN PDZ domain containing 2 1556 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGGCGATGCTGAGGATTCTTC 0.542000 28 64 0 0 0.001512 0 0 ITGB1 3688 broad.mit.edu 37 10 33199181 33199181 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:33199181C>T ENST00000396033.2 - 14 2269 c.2134G>A c.(2134-2136)Gag>Aag p.E712K ITGB1_ENST00000302278.3_Missense_Mutation_p.E712K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E712K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E712K NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 712 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) ACCATGACCTCGTTGTTCCCA 0.423000 4 30 0 0 0.000602214 0 0 MMP17 4326 broad.mit.edu 37 12 132326314 132326314 + Silent SNP C C T rs73162905 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:132326314C>T ENST00000360564.1 + 5 954 c.852C>T c.(850-852)taC>taT p.Y284Y MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Silent_p.Y200Y NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 284 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GGCTCCCCTACGAGGACAAGG 0.662000 8 14 0 0 0.00307968 0 0 CNBD2 140894 broad.mit.edu 37 20 34596243 34596243 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:34596243A>G ENST00000373973.3 + 9 1168 c.995A>G c.(994-996)aAg>aGg p.K332R CNBD2_ENST00000538900.1_Missense_Mutation_p.K332R|CNBD2_ENST00000349339.1_Missense_Mutation_p.K332R cyclic nucleotide binding domain containing 2 GAAAGATTTAAGGAATTCCAG 0.408000 37 110 0 0 0.000953801 0 0 LRRC4 64101 broad.mit.edu 37 7 127670131 127670131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:127670131G>C ENST00000249363.3 - 2 820 c.563C>G c.(562-564)tCt>tGt p.S188C SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 188 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) AGCTCCCTCAGAGATATACTC 0.557000 14 57 0 0 0.00185496 0 0 SHANK1 50944 broad.mit.edu 37 19 51192464 51192464 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:51192464C>T ENST00000293441.1 - 15 2055 c.2037G>A c.(2035-2037)cgG>cgA p.R679R SHANK1_ENST00000391814.1_Silent_p.R679R|SHANK1_ENST00000391813.1_Silent_p.R66R|SHANK1_ENST00000359082.3_Silent_p.R670R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 679 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCTTGGCCCCCCGGAGCACGA 0.612000 11 94 0 0 0.00185496 0 0 NOL10 79954 broad.mit.edu 37 2 10729194 10729194 + Missense_Mutation SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:10729194A>T ENST00000345985.3 - 18 1779 c.1669T>A c.(1669-1671)Tct>Act p.S557T NOL10_ENST00000538384.1_Missense_Mutation_p.S581T|NOL10_ENST00000542668.1_Missense_Mutation_p.S557T|NOL10_ENST00000381685.5_Missense_Mutation_p.S607T NM_001261394.1 NP_001248323.1 Q9BSC4 NOL10_HUMAN nucleolar protein 10 607 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TTTGTGGCAGAATCTTTGAAG 0.478000 65 80 0 0 0.00361006 0 0 BET1L 51272 broad.mit.edu 37 11 205338 205338 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:205338G>A ENST00000382762.3 - 4 406 c.300C>T c.(298-300)ttC>ttT p.F100F BET1L_ENST00000486280.1_Silent_p.F77F|BET1L_ENST00000332865.6_3'UTR|BET1L_ENST00000325147.9_3'UTR|BET1L_ENST00000529614.2_Silent_p.F81F|BET1L_ENST00000410108.1_Intron|RP11-304M2.5_ENST00000526963.1_RNA NM_001098787.1|NM_016526.4 NP_001092257.1|NP_057610.2 Q9NYM9 BET1L_HUMAN Bet1 golgi vesicular membrane trafficking protein-like 100 protein transport|retrograde transport, endosome to Golgi endosome|SNARE complex SNAP receptor activity all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGAGAGGATGAAGAAGGCCA 0.567000 9 28 0 0 0.000442599 0 0 SALL1 6299 broad.mit.edu 37 16 51171359 51171359 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:51171359G>A ENST00000440970.1 - 3 3779 c.3348C>T c.(3346-3348)ttC>ttT p.F1116F SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000251020.4_Silent_p.F1213F NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1213 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACATTTCTGGGAACTTGACGG 0.567000 13 48 0 0 0.00136819 0 0 KIF25 3834 broad.mit.edu 37 6 168434601 168434601 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:168434601C>T ENST00000443060.2 + 5 598 c.207C>T c.(205-207)agC>agT p.S69S KIF25_ENST00000354419.2_Silent_p.S69S|KIF25_ENST00000351261.3_Silent_p.S69S Q9UIL4 KIF25_HUMAN kinesin family member 25 69 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGACGGGCAGCGGAAAGAGCT 0.517000 15 62 0 0 0.00316338 0 0 CELSR2 1952 broad.mit.edu 37 1 109812163 109812163 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:109812163G>A ENST00000271332.3 + 21 6991 c.6930G>A c.(6928-6930)gaG>gaA p.E2310E NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2310 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCCTGCTGGAGACAGAGGAGC 0.607000 16 73 0 0 0.00400662 0 0 NHS 4810 broad.mit.edu 37 X 17744773 17744773 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:17744773G>A ENST00000380060.3 + 6 2822 c.2484G>A c.(2482-2484)ccG>ccA p.P828P NHS_ENST00000398097.3_Silent_p.P672P NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 828 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AGGCAAAGCCGACCCCACCTA 0.502000 29 141 0 0 0.00127121 0 0 STK33 65975 broad.mit.edu 37 11 8478907 8478907 + Silent SNP T T A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:8478907T>A ENST00000447869.1 - 5 1596 c.678A>T c.(676-678)atA>atT p.I226I STK33_ENST00000396673.1_Silent_p.I226I|STK33_ENST00000396672.1_Silent_p.I226I|STK33_ENST00000358872.3_Silent_p.I39I|STK33_ENST00000315204.1_Silent_p.I226I|STK33_ENST00000534493.1_Silent_p.I185I Q9BYT3 STK33_HUMAN serine/threonine kinase 33 226 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GAAGATATGCTATAGCTGATG 0.388000 12 39 0 0 0.00136819 0 0 XAF1 54739 broad.mit.edu 37 17 6665481 6665481 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:6665481A>G ENST00000361842.3 + 5 668 c.429A>G c.(427-429)agA>agG p.R143R XAF1_ENST00000346752.4_Silent_p.R124R|XAF1_ENST00000441631.1_Silent_p.R143R NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 143 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 CAGGGGAAAGAATTTCAGCTC 0.413000 9 21 0 0 0.000274275 0 0 RAVER1 125950 broad.mit.edu 37 19 10444126 10444126 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:10444126C>T ENST00000293677.6 - 1 190 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 20 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GCTTCGACTTCGGCCCCAGAC 0.692000 26 50 0 0 0.00395357 0 0 GABRA4 2557 broad.mit.edu 37 4 46930480 46930480 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:46930480C>T ENST00000264318.3 - 9 2409 c.1427G>A c.(1426-1428)cGt>cAt p.R476H NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 476 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACACGTGACGAGTAGAAGC 0.483000 25 84 0 0 0.00278032 0 0 COL13A1 1305 broad.mit.edu 37 10 71631932 71631932 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:71631932C>T ENST00000356340.3 + 3 901 c.364_splice c.e3-1 p.A122_splice COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000398964.3_Splice_Site_p.A122_splice|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000398974.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398968.3_Splice_Site_p.A122_splice|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398971.3_Splice_Site_p.A122_splice|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398966.3_Splice_Site_p.A122_splice Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 122 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CGTCACTCTTCATTTCAGGGT 0.483000 8 36 0 0 0.000274275 0 0 KMT2B 9757 broad.mit.edu 37 19 36228844 36228844 + Splice_Site SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:36228844G>C ENST00000420124.1 + 35 7742 c.e35+1 KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site GTGTCTACAGGTGAGTGGGGT 0.612000 7 10 0 0 0.00198382 0 0 TMC4 147798 broad.mit.edu 37 19 54664964 54664964 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:54664964G>A ENST00000376591.4 - 12 1869 c.1738C>T c.(1738-1740)Cgc>Tgc p.R580C TMC4_ENST00000416963.1_Missense_Mutation_p.R162C|TMC4_ENST00000301187.4_Missense_Mutation_p.R574C NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 580 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGGAAGGTGCGGGCAGCCGGG 0.562000 8 19 0 0 0.00307968 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579445 11579445 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:11579445G>T ENST00000294484.6 + 8 2061 c.1923G>T c.(1921-1923)ctG>ctT p.L641L PTCHD2_ENST00000389575.3_Silent_p.L641L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 641 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGACCTCCCTGCACTTCCCCG 0.652000 55 159 7.06795e-37 2.84057e-36 0.00361006 1 0 GNB2 2783 broad.mit.edu 37 7 100276155 100276155 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:100276155C>T ENST00000303210.4 + 9 1316 c.834C>T c.(832-834)ttC>ttT p.F278F GNB2_ENST00000393926.1_Silent_p.F278F|GNB2_ENST00000427895.1_Silent_p.F178F|GNB2_ENST00000419828.1_Silent_p.F178F|GNB2_ENST00000436220.1_Silent_p.F234F|GNB2_ENST00000393924.1_Silent_p.F278F|GNB2_ENST00000424361.1_Silent_p.F234F NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 278 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CTGTTGCCTTCTCGCGCAGCG 0.622000 19 48 0 0 0.00121646 0 0 EVA1A 84141 broad.mit.edu 37 2 75720729 75720729 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:75720729G>A ENST00000233712.1 - 4 529 c.92C>T c.(91-93)cCt>cTt p.P31L EVA1A_ENST00000410071.1_Missense_Mutation_p.P31L|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Missense_Mutation_p.P31L|EVA1A_ENST00000410010.1_Missense_Mutation_p.P19L|EVA1A_ENST00000410113.1_Missense_Mutation_p.P31L NM_032181.2 NP_115557.1 eva-1 homolog A (C. elegans) TGCTCGCTCAGGATTTTCTGG 0.517000 15 18 0 0 0.00316338 0 0 LRP6 4040 broad.mit.edu 37 12 12318022 12318022 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:12318022G>A ENST00000261349.4 - 8 1829 c.1753C>T c.(1753-1755)Cga>Tga p.R585* LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585* NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 585 Beta-propeller 2. 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 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|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding 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) CCAATCACTCGATGAACATTT 0.423000 31 91 0 0 0.0024448 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881304 108881304 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:108881304G>C ENST00000329106.2 + 6 645 c.645G>C c.(643-645)aaG>aaC p.K215N NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 215 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAATTGAGAAGATACTGAAGT 0.398000 6 29 0 0 0.00116845 0 0 UNC13C 440279 broad.mit.edu 37 15 54306178 54306178 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:54306178G>A ENST00000545554.1 + 1 1078 c.1078G>A c.(1078-1080)Gct>Act p.A360T UNC13C_ENST00000537900.1_Missense_Mutation_p.A360T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A360T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 360 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATTGAATTTGCTCAGAGGAT 0.378000 12 31 0 0 0.000978159 0 0 MAP1A 4130 broad.mit.edu 37 15 43819190 43819190 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:43819190C>A ENST00000382031.1 + 5 6264 c.6233C>A c.(6232-6234)gCt>gAt p.A2078D MAP1A_ENST00000399453.1_Missense_Mutation_p.A1840D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1840D P78559 MAP1A_HUMAN microtubule-associated protein 1A 1840 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCATGGCTGGCTGACATCCCA 0.612000 21 56 1.87028e-06 6.84265e-06 0.00188189 1 0 C10orf54 64115 broad.mit.edu 37 10 73515124 73515124 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:73515124G>C ENST00000394957.3 - 4 726 c.668C>G c.(667-669)tCc>tGc p.S223C CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 223 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 ACGGCGGTTGGAGGCTGCCTG 0.637000 7 18 0 0 0.00198382 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13928082 13928082 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:13928082G>A ENST00000254323.2 + 7 1422 c.1233G>A c.(1231-1233)ggG>ggA p.G411G ZSWIM4_ENST00000440752.2_Silent_p.G245G NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 411 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GATGGGTGGGGCACCCCCTGG 0.622000 29 72 0 0 0.000878237 0 0 AWAT1 158833 broad.mit.edu 37 X 69458111 69458111 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:69458111C>A ENST00000374521.3 + 5 551 c.510C>A c.(508-510)ggC>ggA p.G170G NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 170 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 TGAGCCATGGCACTGGCAACC 0.542000 30 76 2.85442e-18 1.12168e-17 0.00209593 1 0 AGAP7 653268 broad.mit.edu 37 10 51465428 51465428 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:51465428T>C ENST00000374095.5 - 7 1153 c.1028A>G c.(1027-1029)gAc>gGc p.D343G NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 343 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 GGTGTCCATGTCCTTGGATAG 0.557000 48 221 0 0 0.00361006 0 0 LAMA4 3910 broad.mit.edu 37 6 112506519 112506519 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:112506519C>T ENST00000230538.7 - 9 1394 c.997G>A c.(997-999)Gcc>Acc p.A333T LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 333 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTCTTAGGGCGTATTGGTTT 0.358000 26 111 0 0 0.00395357 0 0 TFE3 7030 broad.mit.edu 37 X 48891046 48891046 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:48891046C>T ENST00000315869.7 - 8 1329 c.1070G>A c.(1069-1071)cGc>cAc p.R357H TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 357 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GAATCGCCTGCGACGCTCAAC 0.532000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 22 47 0 0 0.00229938 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828253 94828253 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:94828253G>A ENST00000285949.5 + 6 1368 c.1368G>A c.(1366-1368)gcG>gcA p.A456A NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 456 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GCGGCGGTGCGCGCAGCTGCC 0.706000 5 24 0 0 0.000602214 0 0 UNC5A 90249 broad.mit.edu 37 5 176306459 176306459 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:176306459G>A ENST00000329542.4 + 14 2607 c.2333G>A c.(2332-2334)cGg>cAg p.R778Q UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 778 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGACTGGCGGACTCTGGCC 0.677000 28 118 0 0 0.0024448 0 0 ABR 29 broad.mit.edu 37 17 961286 961286 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:961286C>T ENST00000544583.2 - 12 1767 c.e12-1 ABR_ENST00000573895.1_5'UTR|ABR_ENST00000536794.2_Splice_Site|ABR_ENST00000291107.2_Splice_Site|ABR_ENST00000302538.5_Splice_Site|ABR_ENST00000574437.1_Splice_Site NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) ACAGGTAACTCTGAAGAGAGG 0.468000 9 30 0 0 0.000442599 0 0 PRCC 5546 broad.mit.edu 37 1 156756531 156756531 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:156756531G>A ENST00000271526.4 + 3 920 c.648G>A c.(646-648)aaG>aaA p.K216K PRCC_ENST00000353233.3_Silent_p.K216K|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 216 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGATACTAAGCCCTCCAGAC 0.562000 T TFE3 papillary renal 19 74 0 0 0.00188189 0 0 IGSF10 285313 broad.mit.edu 37 3 151154847 151154847 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr3:151154847C>G ENST00000282466.3 - 6 7501 c.7502G>C c.(7501-7503)aGa>aCa p.R2501T MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2501 Ig-like C2-type 11. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATAGTTTCCTCTGTCATAAGC 0.393000 40 142 0 0 0.00148497 0 0 APLP2 334 broad.mit.edu 37 11 130000002 130000002 + Missense_Mutation SNP C C T rs149975560 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:130000002C>T ENST00000263574.5 + 11 1597 c.1525C>T c.(1525-1527)Cgt>Tgt p.R509C APLP2_ENST00000543137.1_Missense_Mutation_p.R416C|APLP2_ENST00000539648.1_Missense_Mutation_p.R297C|APLP2_ENST00000345598.5_Missense_Mutation_p.R280C|APLP2_ENST00000338167.5_Missense_Mutation_p.R509C|APLP2_ENST00000278756.7_Missense_Mutation_p.R519C|APLP2_ENST00000528499.1_Missense_Mutation_p.R453C NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 509 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) ACATACCATCCGTCATTACCA 0.478000 24 113 0 0 0.00395357 0 0 LRRC4 64101 broad.mit.edu 37 7 127670193 127670193 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:127670193G>A ENST00000249363.3 - 2 758 c.501C>T c.(499-501)ttC>ttT p.F167F SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 167 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GCACCCGGTTGAAGGCGTAAG 0.572000 20 79 0 0 0.00188189 0 0 DGKD 8527 broad.mit.edu 37 2 234354353 234354353 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:234354353C>T ENST00000264057.2 + 11 1291 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* DGKD_ENST00000409813.3_Nonsense_Mutation_p.Q383* NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 427 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TGACGACACCCAGCTCCCCCA 0.607000 28 40 0 0 0.001512 0 0 LRRC4 64101 broad.mit.edu 37 7 127669962 127669962 + Silent SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:127669962G>C ENST00000249363.3 - 2 989 c.732C>G c.(730-732)ctC>ctG p.L244L SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 244 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) AGAGCTTCTTGAGGGAGCTCA 0.572000 17 40 0 0 0.000566183 0 0 MAP2 4133 broad.mit.edu 37 2 210543343 210543343 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:210543343G>T ENST00000360351.4 + 5 816 c.310G>T c.(310-312)Gca>Tca p.A104S MAP2_ENST00000447185.1_Missense_Mutation_p.A104S|MAP2_ENST00000361559.4_Missense_Mutation_p.A104S|MAP2_ENST00000199940.6_Missense_Mutation_p.A104S|MAP2_ENST00000392194.1_Missense_Mutation_p.A104S NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 104 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAGGCTGTAGCAGTCCTGAA 0.413000 30 44 3.1745e-13 9.12382e-13 0.001512 1 0 ZNF391 346157 broad.mit.edu 37 6 27368900 27368900 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:27368900T>C ENST00000244576.4 + 3 1296 c.751T>C c.(751-753)Tgc>Cgc p.C251R NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 TCCCTATGAATGCAGTAAATG 0.438000 4 30 0 0 0.000602214 0 0 MUC16 94025 broad.mit.edu 37 19 9061995 9061995 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:9061995G>A ENST00000397910.4 - 3 25654 c.25451C>T c.(25450-25452)tCc>tTc p.S8484F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8486 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATAATGGGGGAAGTAGAAAG 0.488000 70 205 0 0 0.00361006 0 0 KIAA1804 84451 broad.mit.edu 37 1 233489592 233489592 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:233489592C>T ENST00000366624.3 + 3 1287 c.1026C>T c.(1024-1026)gtC>gtT p.V342V MLK4_ENST00000366623.3_Silent_p.V342V NM_032435.2 NP_115811.2 CCGGAGAAGTCCCCTATCGGG 0.517000 18 57 0 0 0.000566183 0 0 LRIT3 345193 broad.mit.edu 37 4 110790844 110790844 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr4:110790844G>A ENST00000327908.3 + 4 1154 c.390G>A c.(388-390)atG>atA p.M130I LRIT3_ENST00000379920.3_Missense_Mutation_p.M268I|LRIT3_ENST00000409621.2_Missense_Mutation_p.M130I|LRIT3_ENST00000594814.1_Missense_Mutation_p.M313I Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 268 S -> N (in dbSNP:rs4698797). integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GGTCCATAATGAGCTTGACAG 0.423000 23 116 0 0 0.00229938 0 0 IRF1 3659 broad.mit.edu 37 5 131820153 131820153 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:131820153C>T ENST00000245414.4 - 9 1012 c.754G>A c.(754-756)Gat>Aat p.D252N IRF1_ENST00000405885.2_Missense_Mutation_p.D252N NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 252 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCCTTCCCATCCACGTTTGTT 0.567000 23 146 0 0 0.00229938 0 0 OR5M11 219487 broad.mit.edu 37 11 56309925 56309925 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:56309925G>T ENST00000528616.2 - 1 832 c.809C>A c.(808-810)tCt>tAt p.S270Y NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TATTATTTTAGATTCCTCAAC 0.408000 23 69 9.95505e-16 2.91358e-15 0.00229938 1 0 MYO3B 140469 broad.mit.edu 37 2 171243774 171243774 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:171243774C>G ENST00000334231.6 + 14 1560 c.1560C>G c.(1558-1560)atC>atG p.I520M MYO3B_ENST00000408978.4_Missense_Mutation_p.I511M|MYO3B_ENST00000409044.3_Missense_Mutation_p.I511M|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 511 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GGGCAAGAATCTCTGAATATC 0.428000 23 64 0 0 0.00465635 0 0 ATRX 546 broad.mit.edu 37 X 76937979 76937979 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:76937979C>A ENST00000373344.5 - 9 2983 c.2769G>T c.(2767-2769)aaG>aaT p.K923N ATRX_ENST00000395603.3_Missense_Mutation_p.K885N|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 923 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCCCAGAAAGCTTATCGACAC 0.398000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 41 230 4.32679e-17 1.271e-16 0.00148497 1 0 CDH23 64072 broad.mit.edu 37 10 73537541 73537541 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:73537541C>T ENST00000224721.6 + 38 4970 c.4965C>T c.(4963-4965)ctC>ctT p.L1655L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1650 Cadherin 16. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGACACGCTCAACACCAGCC 0.582000 13 38 0 0 0.00136819 0 0 ATG4A 115201 broad.mit.edu 37 X 107377334 107377334 + Missense_Mutation SNP A A C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:107377334A>C ENST00000372232.3 + 5 499 c.340A>C c.(340-342)Atc>Ctc p.I114L ATG4A_ENST00000345734.3_Missense_Mutation_p.I114L|ATG4A_ENST00000372254.3_Missense_Mutation_p.I90L|ATG4A_ENST00000545696.1_Missense_Mutation_p.I37L NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 114 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 ATACCAACGCATCCTACAGTG 0.348000 14 21 0 0 0.000566183 0 0 ROS1 6098 broad.mit.edu 37 6 117709162 117709162 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:117709162C>T ENST00000368508.3 - 13 1993 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K ROS1_ENST00000368507.3_Intron|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 599 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGGCCTAATTCAAAGAGTTCA 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 31 86 0 0 0.001512 0 0 MYO3A 53904 broad.mit.edu 37 10 26377303 26377303 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:26377303C>T ENST00000265944.5 + 15 1697 c.1531C>T c.(1531-1533)Ctg>Ttg p.L511L MYO3A_ENST00000543632.1_Silent_p.L511L NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 511 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGAATATCTCCTGGAAAAATC 0.343000 4 36 0 0 0.00116845 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788061 65788061 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:65788061G>A ENST00000312106.5 - 7 2102 c.1965C>T c.(1963-1965)atC>atT p.I655I NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 655 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 ACTGGATGATGATGTAAATTA 0.597000 9 39 0 0 0.00448238 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805750 169805750 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:169805750C>T ENST00000274629.4 - 4 976 c.534G>A c.(532-534)gtG>gtA p.V178V KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 178 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GGTTGCTCTTCACCATGGCGA 0.627000 21 82 0 0 0.00152264 0 0 KDM2B 84678 broad.mit.edu 37 12 121947475 121947475 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:121947475C>T ENST00000377069.4 - 11 1855 c.1449G>A c.(1447-1449)ctG>ctA p.L483L KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Silent_p.L514L|KDM2B_ENST00000536437.1_Silent_p.L397L|KDM2B_ENST00000538046.2_Silent_p.L424L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 514 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCAGGCCCTTCAGTTCAAACT 0.597000 16 59 0 0 0.000566183 0 0 EZH2 2146 broad.mit.edu 37 7 148515125 148515125 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:148515125G>A ENST00000320356.2 - 10 1205 c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W EZH2_ENST00000483967.1_Missense_Mutation_p.R348W|EZH2_ENST00000350995.2_Missense_Mutation_p.R318W|EZH2_ENST00000476773.1_Missense_Mutation_p.R348W|EZH2_ENST00000460911.1_Missense_Mutation_p.R357W|EZH2_ENST00000478654.1_Missense_Mutation_p.R348W|EZH2_ENST00000541220.1_Missense_Mutation_p.R348W NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 357 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTGGGAAGCCGTCCTCTTCTG 0.537000 Mis DLBCL 25 104 0 0 0.00278032 0 0 LY9 4063 broad.mit.edu 37 1 160769734 160769734 + Nonsense_Mutation SNP C C T rs12049314 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:160769734C>T ENST00000263285.5 + 2 346 c.316C>T c.(316-318)Cga>Tga p.R106* LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Nonsense_Mutation_p.R66*|LY9_ENST00000368039.2_Nonsense_Mutation_p.R106*|LY9_ENST00000341032.4_Nonsense_Mutation_p.R106*|LY9_ENST00000368040.1_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 106 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTACCTGGGCCGACTAGACAT 0.448000 17 87 0 0 0.00400662 0 0 UNC119 9094 broad.mit.edu 37 17 26874665 26874665 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:26874665C>T ENST00000470125.1 - 3 1113 c.355G>A c.(355-357)Gaa>Aaa p.E119K UNC119_ENST00000484980.1_Intron|UNC119_ENST00000335765.4_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.E214K Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 0 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GCCCCCACTTCCCCACTCCCA 0.612000 13 29 0 0 0.00244969 0 0 BBS9 27241 broad.mit.edu 37 7 33296932 33296932 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:33296932C>T ENST00000242067.6 + 6 1048 c.527C>T c.(526-528)cCt>cTt p.P176L BBS9_ENST00000350941.3_Missense_Mutation_p.P176L|BBS9_ENST00000425508.2_Missense_Mutation_p.P131L|BBS9_ENST00000396127.2_Missense_Mutation_p.P176L|BBS9_ENST00000355070.2_Missense_Mutation_p.P176L|BBS9_ENST00000354265.4_Missense_Mutation_p.P176L NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 176 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AGATTTCTCCCTGGCTTTCTT 0.433000 Bardet-Biedl syndrome 19 46 0 0 0.000958276 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708626 108708626 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:108708626C>G ENST00000218006.2 - 3 1068 c.777G>C c.(775-777)caG>caC p.Q259H NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 259 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AGAGATGCATCTGAGTCTCTC 0.413000 44 127 0 0 0.00361006 0 0 EFHC1 114327 broad.mit.edu 37 6 52317592 52317592 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:52317592C>T ENST00000371068.5 + 4 783 c.680C>T c.(679-681)tCa>tTa p.S227L EFHC1_ENST00000433625.2_Missense_Mutation_p.S136L|EFHC1_ENST00000538167.1_Missense_Mutation_p.S208L NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 227 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) GTCACCCCATCAGACTTTGAT 0.398000 22 88 0 0 0.00188189 0 0 ITGB1 3688 broad.mit.edu 37 10 33200509 33200509 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:33200509C>T ENST00000396033.2 - 13 1933 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K ITGB1_ENST00000374956.4_Missense_Mutation_p.E600K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E600K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E600K NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 600 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTGCTGGCTTCACAAGTACTA 0.493000 27 138 0 0 0.00465635 0 0 KIAA0907 22889 broad.mit.edu 37 1 155903485 155903485 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:155903485T>C ENST00000368320.3 - 2 219 c.194A>G c.(193-195)aAg>aGg p.K65R KIAA0907_ENST00000368321.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K65R Q7Z7F0 K0907_HUMAN KIAA0907 65 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GGCATTAATCTTGGCAGCCAC 0.542000 5 21 0 0 0.000602214 0 0 NUTM1 256646 broad.mit.edu 37 15 34649146 34649146 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:34649146G>A ENST00000537011.1 + 8 3319 c.2937G>A c.(2935-2937)gaG>gaA p.E979E NUTM1_ENST00000333756.4_Silent_p.E951E|NUTM1_ENST00000438749.3_Silent_p.E969E NUT midline carcinoma, family member 1 CTTTACAAGAGAGTCAGGAGT 0.502000 9 56 0 0 0.00448238 0 0 EPHA2 1969 broad.mit.edu 37 1 16456829 16456829 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:16456829C>T ENST00000358432.5 - 15 2715 c.2561G>A c.(2560-2562)tGg>tAg p.W854* NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 854 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTCCTGCTGCCAGCACTGCAT 0.612000 16 51 0 0 0.00316338 0 0 BACH2 60468 broad.mit.edu 37 6 90660231 90660231 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:90660231C>G ENST00000257749.4 - 7 2301 c.1594G>C c.(1594-1596)Ggg>Cgg p.G532R BACH2_ENST00000537989.1_Missense_Mutation_p.G532R|BACH2_ENST00000343122.3_Missense_Mutation_p.G532R|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 532 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCCCGCTCCCGTCCTCCGCG 0.622000 17 51 0 0 0.00074312 0 0 ARC 23237 broad.mit.edu 37 8 143695543 143695543 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:143695543C>G ENST00000356613.2 - 1 1290 c.90G>C c.(88-90)caG>caC p.Q30H NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 30 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) ACTTCCCGATCTGCAGGATCA 0.726000 4 19 0 0 0.00024832 0 0 PCDH12 51294 broad.mit.edu 37 5 141335106 141335106 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:141335106G>A ENST00000231484.3 - 1 3521 c.2311C>T c.(2311-2313)Cag>Tag p.Q771* NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 771 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGCCTTCTGAATGTGTTTC 0.587000 11 62 0 0 0.00136819 0 0 ALX1 8092 broad.mit.edu 37 12 85695240 85695240 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:85695240C>T ENST00000316824.3 + 4 1123 c.968C>T c.(967-969)tCa>tTa p.S323L NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 323 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GCCAATATTTCATGGGCCATG 0.368000 16 50 0 0 0.00316338 0 0 NCOR1 9611 broad.mit.edu 37 17 15964844 15964844 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:15964844C>G ENST00000268712.3 - 37 6009 c.5752G>C c.(5752-5754)Gag>Cag p.E1918Q NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.E502Q NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1918 Interaction with C1D (By similarity). 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 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) GTCCTTAGCTCTTCCTCATAT 0.498000 59 192 0 0 0.00361006 0 0 HPS6 79803 broad.mit.edu 37 10 103826348 103826348 + Missense_Mutation SNP G G A rs140222296 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:103826348G>A ENST00000299238.5 + 1 1202 c.1117G>A c.(1117-1119)Ggg>Agg p.G373R NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 373 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAGACCCGAGGGAATCTTCG 0.572000 Hermansky-Pudlak syndrome 11 60 0 0 0.000673444 0 0 CDH3 1001 broad.mit.edu 37 16 68721545 68721545 + Silent SNP C C T rs140790125 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:68721545C>T ENST00000264012.4 + 12 2245 c.1701C>T c.(1699-1701)atC>atT p.I567I CDH3_ENST00000429102.2_Silent_p.I567I|CDH3_ENST00000581171.1_Silent_p.I512I NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 567 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGCTGAACATCACGGACAAGG 0.562000 25 70 0 0 0.00465635 0 0 WDR7 23335 broad.mit.edu 37 18 54423844 54423844 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr18:54423844C>T ENST00000254442.3 + 15 2231 c.2020C>T c.(2020-2022)Ctg>Ttg p.L674L WDR7_ENST00000357574.3_Silent_p.L674L|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 674 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TCATAACTCCCTGATGGTTCA 0.308000 16 64 0 0 0.00074312 0 0 IRF1 3659 broad.mit.edu 37 5 131820066 131820066 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:131820066C>G ENST00000245414.4 - 9 1099 c.841G>C c.(841-843)Gac>Cac p.D281H IRF1_ENST00000405885.2_Missense_Mutation_p.D281H NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 281 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCTGGGCTGTCAATTTCTGGC 0.552000 19 99 0 0 0.00188189 0 0 RYR3 6263 broad.mit.edu 37 15 34105687 34105687 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:34105687C>T ENST00000389232.4 + 74 10479 c.10409C>T c.(10408-10410)tCc>tTc p.S3470F RYR3_ENST00000415757.3_Missense_Mutation_p.S3465F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3470 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTTTGAGGTCCAAGAAGGCC 0.532000 29 113 0 0 0.00106085 0 0 PPM1M 132160 broad.mit.edu 37 3 52283691 52283691 + Nonsense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr3:52283691C>G ENST00000323588.4 + 10 1123 c.758C>G c.(757-759)tCa>tGa p.S253* PPM1M_ENST00000457351.2_Nonsense_Mutation_p.S414*|PPM1M_ENST00000409502.3_Nonsense_Mutation_p.S202*|PPM1M_ENST00000296487.4_3'UTR Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 0 protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) CACAGGTTCTCAAAGCTGGCC 0.537000 7 22 0 0 0.00307968 0 0 WDR44 54521 broad.mit.edu 37 X 117526618 117526618 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:117526618G>C ENST00000254029.3 + 4 605 c.210G>C c.(208-210)gaG>gaC p.E70D WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.E45D|WDR44_ENST00000371825.3_Missense_Mutation_p.E70D NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 70 Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 TTATTGAGGAGAGTCAGAAAG 0.343000 19 65 0 0 0.00074312 0 0 SMC4 10051 broad.mit.edu 37 3 160135570 160135570 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr3:160135570G>A ENST00000357388.3 + 11 1948 c.1497G>A c.(1495-1497)atG>atA p.M499I SMC4_ENST00000360111.2_Missense_Mutation_p.M499I|SMC4_ENST00000344722.5_Missense_Mutation_p.M499I|SMC4_ENST00000462787.1_Missense_Mutation_p.M499I|SMC4_ENST00000469762.1_Missense_Mutation_p.M474I|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 499 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTTCAAAGATGGATGTAGCCC 0.378000 19 79 0 0 0.00188189 0 0 KDM7A 80853 broad.mit.edu 37 7 139801957 139801957 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:139801957C>T ENST00000397560.2 - 12 1529 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K JHDM1D_ENST00000006967.5_Missense_Mutation_p.E478K NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 478 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTGCCGTTTTCCTCCTTTAAG 0.348000 25 62 0 0 0.00395357 0 0 PRCC 5546 broad.mit.edu 37 1 156756531 156756531 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:156756531G>A ENST00000271526.4 + 3 920 c.648G>A c.(646-648)aaG>aaA p.K216K PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Silent_p.K216K NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 216 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGATACTAAGCCCTCCAGAC 0.562000 T TFE3 papillary renal 19 74 0 0 0.00188189 0 0 DENND5B 160518 broad.mit.edu 37 12 31605306 31605306 + Silent SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:31605306A>T ENST00000389082.5 - 5 1461 c.1197T>A c.(1195-1197)gtT>gtA p.V399V DENND5B_ENST00000354285.4_Silent_p.V421V|DENND5B_ENST00000306833.6_Silent_p.V434V|DENND5B_ENST00000536562.1_Silent_p.V434V NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 399 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ATTGAACAAGAACCTCAGAGA 0.403000 17 66 0 0 0.000958276 0 0 JRK 8629 broad.mit.edu 37 8 143746149 143746149 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:143746149C>T ENST00000507178.2 - 0 1661 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cctcccttcccgctacccccc 0.647000 5 12 0 0 0.000602214 0 0 SMYD4 114826 broad.mit.edu 37 17 1704088 1704088 + Silent SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:1704088T>C ENST00000305513.7 - 5 767 c.600A>G c.(598-600)gaA>gaG p.E200E NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 200 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GACTGTCCTTTTCTTGCATCT 0.498000 48 164 0 0 0.00361006 0 0 FAM86C1 55199 broad.mit.edu 37 11 71500886 71500886 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:71500886C>A ENST00000359244.4 + 2 177 c.154C>A c.(154-156)Cag>Aag p.Q52K FAM86C1_ENST00000346333.6_Missense_Mutation_p.Q52K|FAM86C1_ENST00000426628.2_Missense_Mutation_p.Q52K|FAM86C1_ENST00000528685.1_Missense_Mutation_p.Q52K NM_018172.2 NP_060642.2 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 52 lung(1) 1 GGATATTTTGCAGAAGGTAAG 0.483000 20 72 6.44725e-10 1.83322e-09 0.00229938 1 0 F2 2147 broad.mit.edu 37 11 46747651 46747651 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:46747651G>A ENST00000311907.5 + 7 858 c.802G>A c.(802-804)Gat>Aat p.D268N F2_ENST00000530231.1_Missense_Mutation_p.D268N NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 268 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CCCAGACGGGGATGAGGAGGG 0.632000 21 121 0 0 0.00188189 0 0 ACTC1 70 broad.mit.edu 37 15 35082673 35082673 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:35082673C>G ENST00000290378.4 - 7 1729 c.1074G>C c.(1072-1074)tgG>tgC p.W358C RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 358 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCTTGCTAATCCACATTTGCT 0.502000 41 91 0 0 0.0025221 0 0 OCM2 4951 broad.mit.edu 37 7 97617811 97617811 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:97617811G>A ENST00000257627.4 - 2 202 c.111C>T c.(109-111)tcC>tcT p.S37S OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 37 calcium ion binding lung(4) 4 CTGACATCTTGGAGAGGCCTG 0.458000 42 128 0 0 0.00222228 0 0 CEP135 9662 broad.mit.edu 37 4 56820513 56820513 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr4:56820513C>G ENST00000257287.4 + 4 560 c.436C>G c.(436-438)Caa>Gaa p.Q146E CEP135_ENST00000422247.2_Missense_Mutation_p.Q146E NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 146 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TCAACAACTTCAAGAAAAGAA 0.323000 21 48 0 0 0.00332997 0 0 PIAS4 51588 broad.mit.edu 37 19 4037462 4037462 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:4037462G>A ENST00000262971.2 + 10 1348 c.1233G>A c.(1231-1233)aaG>aaA p.K411K NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 411 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCCGAAAAGGAGCGCAGCT 0.687000 8 31 0 0 0.00307968 0 0 SIRPA 140885 broad.mit.edu 37 20 1895762 1895762 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:1895762G>A ENST00000358771.4 + 2 249 c.97G>A c.(97-99)Gag>Aag p.E33K SIRPA_ENST00000400068.3_Missense_Mutation_p.E33K|SIRPA_ENST00000356025.3_Missense_Mutation_p.E33K NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 33 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGGTGAGGAGGAGCTGCAGGT 0.527000 11 15 0 0 0.000978159 0 0 ZNF442 79973 broad.mit.edu 37 19 12474424 12474424 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:12474424C>G ENST00000242804.4 - 3 604 c.22G>C c.(22-24)Gac>Cac p.D8H ZNF442_ENST00000438182.1_Intron NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TCACTTCTGTCTTCTCCCCCA 0.473000 22 99 0 0 0.00278032 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131889 40131889 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:40131889A>G ENST00000235628.1 - 2 154 c.155T>C c.(154-156)gTc>gCc p.V52A NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 52 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGCGATGGTGACTGCATTCTG 0.592000 7 36 0 0 0.00307968 0 0 PACS2 23241 broad.mit.edu 37 14 105843172 105843172 + Missense_Mutation SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:105843172A>T ENST00000447393.1 + 9 1044 c.869A>T c.(868-870)tAt>tTt p.Y290F PACS2_ENST00000547217.1_Missense_Mutation_p.Y260F|PACS2_ENST00000325438.8_Missense_Mutation_p.Y290F|PACS2_ENST00000458164.2_Missense_Mutation_p.Y290F|PACS2_ENST00000430725.2_Missense_Mutation_p.Y215F NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 290 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GACCTCCTGTATGACACCCTG 0.667000 23 38 0 0 0.00278032 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375087 117375087 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:117375087G>A ENST00000160373.3 - 16 3847 c.3756C>T c.(3754-3756)gcC>gcT p.A1252A NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1252 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGGAGACAGGCCTTGGCGA 0.537000 6 45 0 0 0.00116845 0 0 ACVR1B 91 broad.mit.edu 37 12 52369156 52369156 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:52369156C>T ENST00000257963.4 + 2 276 c.199C>T c.(199-201)Cgc>Tgc p.R67C ACVR1B_ENST00000426655.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R67C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R15C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R67C NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 67 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GCACCATGTGCGCACCTGCAT 0.592000 18 46 0 0 0.00074312 0 0 L1CAM 3897 broad.mit.edu 37 X 153128177 153128177 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:153128177C>T ENST00000370060.1 - 29 3904 c.3715G>A c.(3715-3717)Ggg>Agg p.G1239R L1CAM_ENST00000361981.3_Missense_Mutation_p.G1230R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1235R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1239R|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1237R|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1230R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1241R NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1239 G -> E. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCATTGCCCCCTGCCGCCTCC 0.602000 22 67 0 0 0.00229938 0 0 NSFL1C 55968 broad.mit.edu 37 20 1433208 1433208 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:1433208G>A ENST00000216879.4 - 7 1582 c.715C>T c.(715-717)Cgg>Tgg p.R239W NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128W|NSFL1C_ENST00000461211.1_5'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 239 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TCCTCGTCCCGATGGTCCTCC 0.572000 55 144 0 0 0.00361006 0 0 DDB1 1642 broad.mit.edu 37 11 61084032 61084032 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:61084032C>T ENST00000301764.7 - 11 1630 c.1233G>A c.(1231-1233)tgG>tgA p.W411* DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 411 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 ACCGCAGTGGCCATAATCCTG 0.532000 Nucleotide excision repair (NER) 29 104 0 0 0.00106085 0 0 ENPP4 22875 broad.mit.edu 37 6 46108043 46108043 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:46108043C>T ENST00000321037.4 + 2 953 c.723C>T c.(721-723)acC>acT p.T241T NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 241 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 ATGGGATGACCCAGTGTTCTC 0.393000 18 62 0 0 0.000566183 0 0 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:55221821G>A ENST00000275493.2 + 7 1042 c.865G>A c.(865-867)Gcc>Acc p.A289T EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289T(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGT 0.592000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 51 0 0 0.000978159 0 0 GNAS 2778 broad.mit.edu 37 20 57429461 57429461 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:57429461C>G ENST00000371100.4 + 1 1693 c.1141C>G c.(1141-1143)Cct>Gct p.P381A GNAS_ENST00000306120.3_Silent_p.P317P|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P381A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P381A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GTACGGATCCCCTGCCGCCGG 0.682000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 5 0 0 6.4e-05 0 0 STUB1 10273 broad.mit.edu 37 16 732456 732456 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:732456C>T ENST00000565677.1 + 7 1270 c.663C>T c.(661-663)ttC>ttT p.F221F JMJD8_ENST00000454700.1_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000293882.4_3'UTR|STUB1_ENST00000219548.4_Silent_p.F293F|LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000564370.1_Silent_p.F221F Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 293 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) TTGACGCATTCATCTCTGAGA 0.607000 26 108 0 0 0.00465635 0 0 ATP6V0B 533 broad.mit.edu 37 1 44441472 44441472 + Splice_Site SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:44441472G>T ENST00000532642.1 + 2 165 c.67_splice c.e2-1 p.G23_splice ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000472277.1_Intron Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 23 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity p.G23V(1) breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTGCTGCAGGAGTCTGCTAC 0.552000 49 171 4.32865e-36 1.30513e-35 0.00361006 1 0 CATSPERD 257062 broad.mit.edu 37 19 5733907 5733907 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:5733907C>T ENST00000381624.3 + 5 378 c.317C>T c.(316-318)tCg>tTg p.S106L CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 106 integral to membrane TTTGCTGGTTCGTTATTGCTG 0.313000 10 40 0 0 0.000442599 0 0 THRA 7067 broad.mit.edu 37 17 38245491 38245491 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:38245491G>C ENST00000450525.2 + 9 1506 c.1015G>C c.(1015-1017)Gag>Cag p.E339Q THRA_ENST00000394121.4_Missense_Mutation_p.E339Q|THRA_ENST00000584985.1_Missense_Mutation_p.E339Q|THRA_ENST00000264637.4_Missense_Mutation_p.E339Q|THRA_ENST00000546243.1_Missense_Mutation_p.E339Q NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 339 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GGACAAGATCGAGAAGAGTCA 0.622000 23 116 0 0 0.00332997 0 0 PLA2R1 22925 broad.mit.edu 37 2 160832579 160832579 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:160832579C>T ENST00000283243.7 - 17 2801 c.2595_splice c.e17+1 p.A865_splice PLA2R1_ENST00000392771.1_Splice_Site_p.A865_splice NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 865 C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTTCAAGTACCGCTTTTATTT 0.413000 26 43 0 0 0.00127121 0 0 ZXDB 158586 broad.mit.edu 37 X 57618953 57618953 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:57618953G>A ENST00000374888.1 + 1 685 c.472G>A c.(472-474)Gcc>Acc p.A158T NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 cccgatctccgcccccggccc 0.751000 6 15 0 0 0.00448238 0 0 SPDEF 25803 broad.mit.edu 37 6 34507170 34507170 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:34507170G>A ENST00000374037.3 - 5 1100 c.686C>T c.(685-687)tCg>tTg p.S229L SPDEF_ENST00000544425.1_Missense_Mutation_p.S213L NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 229 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S229L(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CTCACTGGTCGAGGCTGGGTG 0.667000 22 109 0 0 0.00188189 0 0 TP53 7157 broad.mit.edu 37 17 7579533 7579533 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:7579533G>A ENST00000420246.2 - 4 286 c.154C>T c.(154-156)Caa>Taa p.Q52* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 52 Interaction with HRMT1L2. Q -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGAACCATTGTTCAATATCG 0.592000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 67 183 0 0 0.00361006 0 0 MAP3K10 4294 broad.mit.edu 37 19 40704316 40704316 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:40704316C>T ENST00000253055.3 + 2 1005 c.717C>T c.(715-717)ctC>ctT p.L239L MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 239 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 ACCACAACCTCGCAGACACGG 0.647000 14 44 0 0 0.00400662 0 0 METTL24 728464 broad.mit.edu 37 6 110567452 110567452 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:110567452G>A ENST00000338882.4 - 5 797 c.798C>T c.(796-798)ctC>ctT p.L266L CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 266 extracellular region GATCTGCCTTGAGAACGTCAA 0.373000 10 28 0 0 0.000442599 0 0 RXRB 6257 broad.mit.edu 37 6 33164363 33164363 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:33164363G>A ENST00000374680.3 - 5 1052 c.841C>T c.(841-843)Cgg>Tgg p.R281W RXRB_ENST00000413614.2_Missense_Mutation_p.R185W|RXRB_ENST00000374685.4_Missense_Mutation_p.R281W|RXRB_ENST00000544186.1_Missense_Mutation_p.R91W NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 281 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCTTTCCCCGCTGACGCTCC 0.602000 11 67 0 0 0.000978159 0 0 MYL6 4637 broad.mit.edu 37 12 56552256 56552256 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:56552256G>A ENST00000536128.1 + 1 111 c.71G>A c.(70-72)cGa>cAa p.R24Q MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000547649.1_Intron P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 0 EF-hand 1. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GGTGGGGGGCGAGGAGAAGGC 0.637000 6 18 0 0 0.00116845 0 0 UBR3 130507 broad.mit.edu 37 2 170917856 170917856 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:170917856C>T ENST00000272793.5 + 35 4972 c.4922C>T c.(4921-4923)tCc>tTc p.S1641F UBR3_ENST00000392631.1_Missense_Mutation_p.S462F|UBR3_ENST00000418381.1_Missense_Mutation_p.S1641F Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1641 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TCTCCTGAATCCATGGAAAAA 0.368000 45 77 0 0 0.00361006 0 0 KCNT2 343450 broad.mit.edu 37 1 196303052 196303052 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:196303052A>G ENST00000367433.5 - 17 2023 c.1922T>C c.(1921-1923)aTt>aCt p.I641T KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I591T|KCNT2_ENST00000451324.2_Missense_Mutation_p.I252T|KCNT2_ENST00000294725.8_Missense_Mutation_p.I641T Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 641 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACATGTTTGAATCGATGATGT 0.403000 14 42 0 0 0.00244969 0 0 PCK2 5106 broad.mit.edu 37 14 24566131 24566131 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:24566131C>A ENST00000216780.4 + 2 328 c.60C>A c.(58-60)ggC>ggA p.G20G PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.G20G|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Silent_p.G32G NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 20 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GCCCCTTGGGCTGGCCATCAT 0.567000 28 115 2.79863e-10 7.9861e-10 0.00465635 1 0 KAT5 10524 broad.mit.edu 37 11 65484420 65484420 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:65484420C>T ENST00000341318.4 + 10 1465 c.1231C>T c.(1231-1233)Cgc>Tgc p.R411C KAT5_ENST00000534650.1_Missense_Mutation_p.R167C|KAT5_ENST00000530446.1_Missense_Mutation_p.R359C|KAT5_ENST00000377046.3_Missense_Mutation_p.R378C|KAT5_ENST00000352980.4_Missense_Mutation_p.R326C NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 378 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 TCCCTACCAGCGCCGGGGCTA 0.592000 28 85 0 0 0.000878237 0 0 PDE8B 8622 broad.mit.edu 37 5 76645309 76645309 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:76645309C>T ENST00000264917.5 + 8 987 c.942C>T c.(940-942)ctC>ctT p.L314L PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Silent_p.L294L|PDE8B_ENST00000333194.4_Silent_p.L314L NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 314 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GAAAAGAACTCGCTGATCTGC 0.502000 22 68 0 0 0.00332997 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823608 38823608 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr22:38823608C>T ENST00000303592.3 - 2 788 c.530G>A c.(529-531)cGg>cAg p.R177Q NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 177 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CTTCTTGGGCCGCGCCATCTT 0.642000 8 51 0 0 0.00307968 0 0 THOC2 57187 broad.mit.edu 37 X 122767863 122767863 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:122767863C>T ENST00000245838.8 - 20 2108 c.2077G>A c.(2077-2079)Gag>Aag p.E693K THOC2_ENST00000491737.1_Missense_Mutation_p.E578K|THOC2_ENST00000355725.4_Missense_Mutation_p.E693K NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 693 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTCATTTCCTCTGTAATTTCT 0.333000 18 87 0 0 0.000958276 0 0 CLDN10 9071 broad.mit.edu 37 13 96205036 96205036 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr13:96205036C>T ENST00000299339.2 + 1 58 c.29C>T c.(28-30)gCc>gTc p.A10V CLDN10_ENST00000376873.3_Intron NM_006984.4 NP_008915.1 P78369 CLD10_HUMAN claudin 10 10 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GAGATCATCGCCTTCATGGTC 0.672000 13 18 0 0 0.00244969 0 0 KLC1 3831 broad.mit.edu 37 14 104142025 104142025 + Splice_Site SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:104142025G>A ENST00000389744.4 + 11 1580 c.e11-1 KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000348520.6_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000557575.1_Splice_Site Q07866 KLC1_HUMAN kinesin light chain 1 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TTATAATTTAGGGAAAGCAAA 0.328000 9 39 0 0 0.000978159 0 0 C1orf172 126695 broad.mit.edu 37 1 27277199 27277199 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:27277199C>A ENST00000320567.5 - 3 1176 c.1088G>T c.(1087-1089)cGg>cTg p.R363L NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 363 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CCTCAGCTTCCGGGCGATGGC 0.597000 33 120 5.71845e-15 1.65545e-14 0.00111076 1 0 ANKS4B 257629 broad.mit.edu 37 16 21262063 21262063 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:21262063G>A ENST00000311620.5 + 2 1249 c.1176G>A c.(1174-1176)agG>agA p.R392R NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 392 SAM. NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) TGGGTCCCAGGAAGAAAGTTC 0.512000 26 99 0 0 0.00465635 0 0 KMT2D 8085 broad.mit.edu 37 12 49420049 49420049 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:49420049C>T ENST00000301067.7 - 48 15699 c.15700G>A c.(15700-15702)Gag>Aag p.E5234K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCGTTGTTCTCACCAATAGAA 0.597000 25 65 0 0 0.00332997 0 0 TTC37 9652 broad.mit.edu 37 5 94830705 94830705 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:94830705C>T ENST00000358746.2 - 35 3951 c.3653G>A c.(3652-3654)gGa>gAa p.G1218E NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1218 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AGCCACATTTCCTGCTACAAC 0.303000 14 77 0 0 0.00316338 0 0 ENTPD7 57089 broad.mit.edu 37 10 101458317 101458317 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:101458317G>A ENST00000370489.4 + 10 1215 c.1037G>A c.(1036-1038)aGt>aAt p.S346N NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 346 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) ACAGGTCTGAGTCCCGACAAT 0.473000 15 43 0 0 0.00074312 0 0 NEUROD2 4761 broad.mit.edu 37 17 37761719 37761719 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:37761719C>A ENST00000302584.4 - 2 1354 c.1134G>T c.(1132-1134)gcG>gcT p.A378A NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 378 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TATGAAAAAACGCATTGAGCT 0.612000 6 15 0.00198382 0.00528357 0.00198382 1 0 LAMC3 10319 broad.mit.edu 37 9 133932455 133932455 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr9:133932455G>A ENST00000361069.4 + 12 2212 c.2079G>A c.(2077-2079)agG>agA p.R693R LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 693 Laminin EGF-like 5; second part. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GATACAAGAGGGAGATGCCAC 0.612000 23 67 0 0 0.00395357 0 0 PRG3 10394 broad.mit.edu 37 11 57145249 57145249 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:57145249G>A ENST00000287143.2 - 5 677 c.568C>T c.(568-570)Cca>Tca p.P190S NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 190 C-type lectin. basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 GGTTGCCCTGGGGACCAGTAA 0.557000 12 34 0 0 0.00136819 0 0 COL14A1 7373 broad.mit.edu 37 8 121267542 121267542 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:121267542G>A ENST00000297848.3 + 23 3086 c.2816G>A c.(2815-2817)tGg>tAg p.W939* COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W844*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W939*|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 939 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGTGCCCACTGGCAGGTACAT 0.438000 36 96 0 0 0.00375469 0 0 OBSCN 84033 broad.mit.edu 37 1 228468382 228468382 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:228468382C>T ENST00000570156.2 + 35 9443 c.9369C>T c.(9367-9369)ttC>ttT p.F3123F OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F2694F|OBSCN_ENST00000422127.1_Silent_p.F2694F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.F1541F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2124 Ig-like 31. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGTATGACTTCCTGCACACGG 0.682000 28 102 0 0 0.00465635 0 0 MYO3B 140469 broad.mit.edu 37 2 171243784 171243784 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:171243784C>G ENST00000334231.6 + 14 1570 c.1570C>G c.(1570-1572)Ctc>Gtc p.L524V MYO3B_ENST00000408978.4_Missense_Mutation_p.L515V|MYO3B_ENST00000409044.3_Missense_Mutation_p.L515V|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 515 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CTCTGAATATCTCCTGGAAAA 0.413000 24 57 0 0 0.00127121 0 0 LAMC2 3918 broad.mit.edu 37 1 183177126 183177126 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:183177126C>A ENST00000264144.4 + 2 255 c.190C>A c.(190-192)Cac>Aac p.H64N LAMC2_ENST00000493293.1_Missense_Mutation_p.H64N NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 64 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TGATGGCATTCACTGCGAGAA 0.483000 100 254 4.70724e-39 1.43007e-38 0.00361006 1 0 ADRB3 155 broad.mit.edu 37 8 37823854 37823854 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:37823854G>A ENST00000345060.3 - 1 629 c.134C>T c.(133-135)gCg>gTg p.A45V NM_000025.2 NP_000016.1 P13945 ADRB3_HUMAN adrenoceptor beta 3 45 carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4) 9 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) CACCGCCAGCGCCAGCAGGGC 0.697000 8 22 0 0 0.00307968 0 0 OR5L2 26338 broad.mit.edu 37 11 55594959 55594959 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:55594959G>A ENST00000378397.1 + 1 265 c.265G>A c.(265-267)Gac>Aac p.D89N NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTTTAACAAGGACAAAGCCAT 0.473000 HNSCC(27;0.073) 53 68 0 0 0.00361006 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324169 44324169 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr21:44324169G>T ENST00000354250.2 + 3 1116 c.1047G>T c.(1045-1047)ctG>ctT p.L349L NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 54 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) CCCCTCCCCTGCCCAGAAAGG 0.617000 13 48 9.31168e-06 2.53062e-05 0.00185496 1 0 ALDH1A3 220 broad.mit.edu 37 15 101448628 101448628 + Silent SNP C C T rs145659258 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:101448628C>T ENST00000329841.5 + 12 1939 c.1407C>T c.(1405-1407)aaC>aaT p.N469N RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.N362N NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 469 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ACTGCTACAACGCCCTCTATG 0.512000 10 37 0 0 0.000442599 0 0 HFM1 164045 broad.mit.edu 37 1 91845680 91845680 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:91845680C>A ENST00000370425.3 - 8 1085 c.987G>T c.(985-987)ttG>ttT p.L329F HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L8F NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 329 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTTAATATTCAACCATGGCA 0.284000 9 55 0.000274275 0.000735389 0.00448238 1 0 SRPX 8406 broad.mit.edu 37 X 38009042 38009042 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:38009042G>A ENST00000378533.3 - 10 1423 c.1317C>T c.(1315-1317)ttC>ttT p.F439F SRPX_ENST00000544439.1_Silent_p.F419F|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000343800.6_Silent_p.F426F|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.F380F NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 439 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 CAATCAGGTTGAACAGGGCCA 0.498000 18 48 0 0 0.00074312 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19362961 19362961 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:19362961C>A ENST00000454498.2 - 4 1398 c.385G>T c.(385-387)Gac>Tac p.D129Y CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D129Y NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 129 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TCTGCCTTGTCCACCTGCGAG 0.597000 25 73 3.65163e-15 1.06484e-14 0.00106085 1 0 CRB1 23418 broad.mit.edu 37 1 197390489 197390489 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:197390489G>A ENST00000367400.3 + 6 1666 c.1531G>A c.(1531-1533)Gcc>Acc p.A511T CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A210T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A399T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A511T|CRB1_ENST00000535699.1_Missense_Mutation_p.A442T NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 511 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGTAACATAGCCCTCAGGTT 0.488000 30 61 0 0 0.00178596 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938138 116938138 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:116938138C>T ENST00000229554.5 + 1 489 c.352C>T c.(352-354)Cct>Tct p.P118S RSPH4A_ENST00000368581.4_Missense_Mutation_p.P118S|RSPH4A_ENST00000368580.4_Missense_Mutation_p.P118S NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 118 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GAGTGTGATTCCTGAAGCTGG 0.537000 Kartagener syndrome 23 78 0 0 0.00278032 0 0 LARP6 55323 broad.mit.edu 37 15 71124454 71124454 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:71124454C>A ENST00000299213.8 - 3 1483 c.1413G>T c.(1411-1413)ttG>ttT p.L471F NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 471 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 GACCCCTGGGCAACCTCAGCA 0.547000 25 91 2.41591e-17 7.12293e-17 0.00465635 1 0 SCAND3 114821 broad.mit.edu 37 6 28540086 28540086 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:28540086G>A ENST00000452236.2 - 4 4197 c.3580C>T c.(3580-3582)Cca>Tca p.P1194S NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1194 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tcttttgatggaaaataaaat 0.289000 4 20 0 0 0.00024832 0 0 MAP4K3 8491 broad.mit.edu 37 2 39494353 39494353 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:39494353T>C ENST00000263881.3 - 27 2333 c.2009A>G c.(2008-2010)aAa>aGa p.K670R MAP4K3_ENST00000341681.5_Missense_Mutation_p.K649R|MAP4K3_ENST00000536018.1_Missense_Mutation_p.K223R|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K586R NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 670 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) CTGGCACCATTTGGTTTCAGG 0.368000 33 44 0 0 0.00428921 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634140 70634140 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:70634140G>A ENST00000381269.2 - 2 1753 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q334* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 334 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCCACCAGCTGATCTAAGTCC 0.522000 25 61 0 0 0.000878237 0 0 PSME3 10197 broad.mit.edu 37 17 40986892 40986892 + Splice_Site SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:40986892G>A ENST00000293362.3 + 4 403 c.243_splice c.e4+1 p.G81_splice PSME3_ENST00000441946.2_Splice_Site_p.G92_splice|PSME3_ENST00000545225.1_Splice_Site_p.G20_splice|PSME3_ENST00000590720.1_Splice_Site_p.G81_splice|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR NM_005789.3|NM_176863.2 NP_005780.2|NP_789839.1 P61289 PSME3_HUMAN proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) 81 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding NS(1)|cervix(1)|large_intestine(3)|lung(1) 6 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGACTGGATGGTGTAAGTGTC 0.443000 14 50 0 0 0.00185496 0 0 CMC4 100272147 broad.mit.edu 37 X 154292277 154292277 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:154292277G>A ENST00000369484.3 - 2 700 c.22C>T c.(22-24)Cag>Tag p.Q8* CMC4_ENST00000369479.1_Nonsense_Mutation_p.Q8* NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 GCTTGCTTCTGGCACGGATCC 0.328000 32 151 0 0 0.00375469 0 0 CST1 1469 broad.mit.edu 37 20 23731395 23731395 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:23731395C>T ENST00000304749.2 - 1 179 c.109G>A c.(109-111)Gca>Aca p.A37T CST1_ENST00000398402.1_Missense_Mutation_p.A37T NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 37 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) TTGAGGTCTGCGTTATAGATG 0.572000 10 50 0 0 0.00136819 0 0 ALDH1A3 220 broad.mit.edu 37 15 101447334 101447334 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:101447334G>T ENST00000329841.5 + 11 1774 c.1242G>T c.(1240-1242)ggG>ggT p.G414G RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.G307G NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 414 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AGATTTTCGGGCCAGTGCAAC 0.398000 10 42 0.000442599 0.00118273 0.000442599 1 0 PTPRC 5788 broad.mit.edu 37 1 198713291 198713291 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:198713291G>A ENST00000367376.2 + 26 2971 c.2800G>A c.(2800-2802)Gat>Aat p.D934N PTPRC_ENST00000352140.3_Missense_Mutation_p.D886N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D936N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D775N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D773N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 934 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GAAGAAAAGGGATCCACCCAG 0.373000 6 20 0 0 0.00307968 0 0 RAI1 10743 broad.mit.edu 37 17 17700989 17700989 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:17700989G>A ENST00000353383.1 + 3 5196 c.4727G>A c.(4726-4728)cGc>cAc p.R1576H RAI1_ENST00000261641.6_Missense_Mutation_p.R1576H NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1576 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CCTGAAATCCGCCTCAAGTAC 0.637000 33 104 0 0 0.00209593 0 0 MXD3 83463 broad.mit.edu 37 5 176734658 176734658 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:176734658G>A ENST00000423571.2 - 5 693 c.629C>T c.(628-630)cCg>cTg p.P210L MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Silent_p.A184A|MXD3_ENST00000439742.2_Silent_p.A184A Q9BW11 MAD3_HUMAN MAX dimerization protein 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCAGCTCGGCCTCACCCC 0.701000 18 59 0 0 0.000958276 0 0 AIFM3 150209 broad.mit.edu 37 22 21332000 21332000 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr22:21332000G>A ENST00000399167.2 + 15 1534 c.1294G>A c.(1294-1296)Gcc>Acc p.A432T AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGCAGTGCCCGCCACAGGCTT 0.617000 25 53 0 0 0.001512 0 0 EPHA3 2042 broad.mit.edu 37 3 89448639 89448639 + Missense_Mutation SNP T T G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr3:89448639T>G ENST00000452448.2 + 7 1690 c.1603T>G c.(1603-1605)Tat>Gat p.Y535D EPHA3_ENST00000494014.1_Intron|EPHA3_ENST00000336596.2_Intron NM_182644.2 NP_872585.1 P29320 EPHA3_HUMAN EPH receptor A3 0 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTGTATGTATTATTTCAATGC 0.408000 TSP Lung(6;0.00050) 9 21 0 0 0.000442599 0 0 LAMA4 3910 broad.mit.edu 37 6 112508752 112508752 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:112508752A>G ENST00000230538.7 - 8 1263 c.866T>C c.(865-867)cTc>cCc p.L289P LAMA4_ENST00000522006.1_Missense_Mutation_p.L282P|LAMA4_ENST00000424408.2_Missense_Mutation_p.L282P|LAMA4_ENST00000389463.4_Missense_Mutation_p.L282P NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 289 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTCGATGGAGAGCGCTGCTAA 0.527000 10 33 0 0 0.00074312 0 0 ZBTB40 9923 broad.mit.edu 37 1 22816681 22816681 + Silent SNP G G A rs138737436 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:22816681G>A ENST00000404138.1 + 3 751 c.240G>A c.(238-240)acG>acA p.T80T ZBTB40_ENST00000374651.4_Silent_p.T80T|ZBTB40_ENST00000375647.4_Silent_p.T80T NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 80 BTB. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGATGTACACGGGCAAACTAC 0.463000 9 60 0 0 0.000442599 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 6 25 0 0 0.00198382 0 0 ANKRD13A 88455 broad.mit.edu 37 12 110474131 110474131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:110474131G>C ENST00000261739.4 + 14 1741 c.1575G>C c.(1573-1575)gaG>gaC p.E525D C12orf76_ENST00000546651.2_Intron NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 525 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 CCCAGTATGAGAGGTGATTGA 0.517000 28 105 0 0 0.00127121 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097163 202097163 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:202097163C>T ENST00000367282.4 + 2 1031 c.925C>T c.(925-927)Cgc>Tgc p.R309C NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 309 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCAGAACGCCCGCATGTGGTG 0.612000 25 64 0 0 0.00395357 0 0 SH2D4A 63898 broad.mit.edu 37 8 19231062 19231062 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:19231062A>G ENST00000265807.3 + 8 1350 c.939A>G c.(937-939)acA>acG p.T313T SH2D4A_ENST00000519207.1_Silent_p.T313T|SH2D4A_ENST00000518040.1_Silent_p.T268T NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 313 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TGGTGAGGACACTGTCCAGCT 0.408000 10 28 0 0 0.000442599 0 0 SPATA25 128497 broad.mit.edu 37 20 44515635 44515635 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:44515635G>A ENST00000372519.3 - 2 249 c.205C>T c.(205-207)Caa>Taa p.Q69* NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 69 integral to membrane CCCCTGGCTTGTGGCATTGCC 0.637000 45 170 0 0 0.00285205 0 0 GPAM 57678 broad.mit.edu 37 10 113933472 113933472 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:113933472G>A ENST00000348367.4 - 7 742 c.545C>T c.(544-546)tCa>tTa p.S182L GPAM_ENST00000423155.1_Missense_Mutation_p.S182L|GPAM_ENST00000369425.1_Missense_Mutation_p.S182L Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 182 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) CATTGCCGGTGAGACAGTGGC 0.403000 19 47 0 0 0.00074312 0 0 MATN2 4147 broad.mit.edu 37 8 99039681 99039681 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:99039681C>T ENST00000254898.5 + 14 2211 c.1980C>T c.(1978-1980)atC>atT p.I660I MATN2_ENST00000522025.2_Silent_p.I376I|MATN2_ENST00000521689.1_Silent_p.I660I|MATN2_ENST00000520016.1_Silent_p.I660I|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.I619I NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 660 VWFA 2. proteinaceous extracellular matrix calcium ion binding p.I660I(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCTTTGTGATCGATGGATCCA 0.403000 26 85 0 0 0.001512 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011425 34011425 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr21:34011425G>A ENST00000382499.2 - 31 3824 c.3825C>T c.(3823-3825)ttC>ttT p.F1275F SYNJ1_ENST00000433931.2_Silent_p.F1275F|SYNJ1_ENST00000382491.3_Silent_p.F1189F|SYNJ1_ENST00000357345.3_Silent_p.F1220F|SYNJ1_ENST00000322229.7_Silent_p.F1236F NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1236 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GTTCAGGAAGGAAAGTTGAAC 0.453000 22 88 0 0 0.00188189 0 0 ZNF629 23361 broad.mit.edu 37 16 30793311 30793311 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:30793311G>A ENST00000262525.4 - 3 2545 c.2338C>T c.(2338-2340)Cgc>Tgc p.R780C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AGGGCCACGCGGTCGAGGAAG 0.647000 44 145 0 0 0.00361006 0 0 KCTD4 386618 broad.mit.edu 37 13 45768657 45768657 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr13:45768657C>T ENST00000405872.1 - 2 449 c.46G>A c.(46-48)Ggg>Agg p.G16R KCTD4_ENST00000379108.1_Missense_Mutation_p.G16R|GTF2F2_ENST00000340473.6_Intron NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 16 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TTGTGTTTCCCTTCATACTCC 0.353000 40 121 0 0 0.00128727 0 0 BTN2A2 10385 broad.mit.edu 37 6 26388333 26388333 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:26388333C>T ENST00000356709.4 + 4 646 c.535C>T c.(535-537)Ctc>Ttc p.L179F BTN2A2_ENST00000352867.2_Missense_Mutation_p.L63F|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L179F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L179F NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 179 Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CCCAGAGCCCCTCACAGTGTG 0.582000 16 60 0 0 0.00400662 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872923 35872923 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:35872923G>A ENST00000216797.5 - 2 410 c.309C>T c.(307-309)ttC>ttT p.F103F NFKBIA_ENST00000557389.1_Silent_p.F13F|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Silent_p.F103F NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 103 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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 cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGAAGTTGAGGAAGGCCAGGT 0.582000 6 28 0 0 0.00116845 0 0 GABRA4 2557 broad.mit.edu 37 4 46930480 46930480 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr4:46930480C>T ENST00000264318.3 - 9 2409 c.1427G>A c.(1426-1428)cGt>cAt p.R476H NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 476 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACACGTGACGAGTAGAAGC 0.483000 25 84 0 0 0.00278032 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297245 144297245 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:144297245G>A ENST00000330824.2 + 4 482 c.407G>A c.(406-408)tGc>tAc p.C136Y NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 136 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCCAGCCTGTGCAATGTCCCA 0.672000 22 65 0 0 0.00332997 0 0 SYVN1 84447 broad.mit.edu 37 11 64898172 64898172 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:64898172A>G ENST00000526060.1 - 11 1257 c.1065T>C c.(1063-1065)ccT>ccC p.P355P SYVN1_ENST00000377190.3_Silent_p.P355P|SYVN1_ENST00000307289.6_Silent_p.P304P|SYVN1_ENST00000294256.8_Silent_p.P355P Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 355 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GGTGGGGGGCAGGGGGTGGCC 0.672000 3 19 0 0 0.00198382 0 0 ZNF48 197407 broad.mit.edu 37 16 30409298 30409298 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:30409298C>T ENST00000320159.2 + 2 1103 c.727C>T c.(727-729)Cgg>Tgg p.R243W NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R243W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GCGGACACACCGGGGGGAGCA 0.647000 10 61 0 0 0.000978159 0 0 TLR6 10333 broad.mit.edu 37 4 38828928 38828928 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr4:38828928G>C ENST00000436693.2 - 2 2286 c.2167C>G c.(2167-2169)Ctc>Gtc p.L723V TLR6_ENST00000381950.1_Missense_Mutation_p.L723V NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 723 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCATGAAAGAGATTGTGATGG 0.423000 54 132 0 0 0.00361006 0 0 A2ML1 144568 broad.mit.edu 37 12 9021141 9021141 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:9021141G>A ENST00000299698.7 + 32 4250 c.4070G>A c.(4069-4071)gGg>gAg p.G1357E A2ML1_ENST00000539547.1_Missense_Mutation_p.G866E NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1201 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 AGTTATGTGGGGAGCCGTAGC 0.463000 40 97 0 0 0.00195071 0 0 PDAP1 11333 broad.mit.edu 37 7 99001128 99001128 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:99001128C>T ENST00000350498.3 - 3 386 c.105_splice c.e3-1 p.E36_splice NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 36 cell proliferation|signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TCCTCTTCTTCCTGTTTCAGA 0.453000 18 72 0 0 0.000958276 0 0 KIAA1199 57214 broad.mit.edu 37 15 81230170 81230170 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:81230170G>A ENST00000394685.3 + 25 3676 c.3257G>A c.(3256-3258)cGa>cAa p.R1086Q KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1086Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1086Q|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 1086 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGCTACCCGCGAGGCACCACA 0.572000 37 91 0 0 0.00375469 0 0 GIGYF1 64599 broad.mit.edu 37 7 100280033 100280033 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:100280033C>T ENST00000275732.5 - 21 3882 c.2673G>A c.(2671-2673)ctG>ctA p.L891L NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 891 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCCCTGCAGCAGCTTCAGCA 0.637000 8 42 0 0 0.00307968 0 0 PRB3 5544 broad.mit.edu 37 12 11422583 11422583 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:11422583C>T ENST00000381842.3 - 0 58 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GCAGGGCCACCGACAGCAGAA 0.532000 18 69 0 0 0.000958276 0 0 CTH 1491 broad.mit.edu 37 1 70900825 70900825 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:70900825G>C ENST00000411986.2 + 9 1119 c.921G>C c.(919-921)gaG>gaC p.E307D CTH_ENST00000370938.3_Missense_Mutation_p.E339D|CTH_ENST00000346806.2_Missense_Mutation_p.E295D NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 339 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CTCTGGCCGAGAGCTTGGGAG 0.323000 7 20 0 0 0.00448238 0 0 CUX1 1523 broad.mit.edu 37 7 101559408 101559408 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:101559408C>A ENST00000360264.3 + 2 97 c.77C>A c.(76-78)gCc>gAc p.A26D CUX1_ENST00000546411.2_Missense_Mutation_p.A15D|CUX1_ENST00000425244.2_Missense_Mutation_p.A26D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A15D|CUX1_ENST00000292538.4_Missense_Mutation_p.A26D|CUX1_ENST00000292535.7_Missense_Mutation_p.A15D|CUX1_ENST00000549414.2_Missense_Mutation_p.A15D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.A26D|CUX1_ENST00000547394.2_Missense_Mutation_p.A26D|CUX1_ENST00000550008.2_Missense_Mutation_p.A15D NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 15 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAACTCGATGCCACCGCAACG 0.498000 39 146 1.15183e-24 3.45983e-24 0.00222228 1 0 SERPINA4 5267 broad.mit.edu 37 14 95035800 95035800 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:95035800G>A ENST00000557004.1 + 5 1573 c.1152G>A c.(1150-1152)gcG>gcA p.A384A SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.A384A|SERPINA4_ENST00000555095.1_Silent_p.A384A P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 384 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCAGCTTCGCGATCAAATTCT 0.547000 24 52 0 0 0.00395357 0 0 SLC17A9 63910 broad.mit.edu 37 20 61598820 61598820 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:61598820G>A ENST00000370349.3 + 14 1465 c.1261G>A c.(1261-1263)Gtg>Atg p.V421M SLC17A9_ENST00000370351.4_Missense_Mutation_p.V427M|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 427 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGCTCAGAGGGTGGACCTGAG 0.617000 33 117 0 0 0.00428921 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145763114 145763114 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:145763114C>G ENST00000377307.2 - 6 2689 c.2605G>C c.(2605-2607)Gag>Cag p.E869Q ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron NM_025251.1 NP_079527.1 Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 840 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCATCCGGCTCTTCAACATAA 0.552000 31 97 0 0 0.00283554 0 0 OR2L2 26246 broad.mit.edu 37 1 248201622 248201622 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:248201622C>A ENST00000366479.2 + 1 149 c.53C>A c.(52-54)cCa>cAa p.P18Q OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGGCTGTTCCCACAATCAAGA 0.368000 43 135 1.38162e-09 3.90076e-09 0.00195071 1 0 NOVA2 4858 broad.mit.edu 37 19 46443312 46443312 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:46443312C>T ENST00000263257.5 - 4 1482 c.1288G>A c.(1288-1290)Gtg>Atg p.V430M NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 430 KH 3. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) TGGTACTCCACCAACGTCTTG 0.662000 43 124 0 0 0.00285205 0 0 FADS2 9415 broad.mit.edu 37 11 61632693 61632693 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:61632693G>T ENST00000278840.4 + 11 1857 c.1227G>T c.(1225-1227)aaG>aaT p.K409N FADS2_ENST00000522056.1_Missense_Mutation_p.K378N|FADS2_ENST00000257261.6_Missense_Mutation_p.K387N NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 409 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) TATGTGCCAAGCATGGCATTG 0.612000 18 55 4.75885e-15 1.38266e-14 0.000566183 1 0 GNAT3 346562 broad.mit.edu 37 7 80141221 80141221 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:80141221C>T ENST00000398291.3 - 1 115 c.22G>A c.(22-24)Gag>Aag p.E8K CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 8 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 TCCTTGCTCTCTGAACTAATT 0.418000 9 18 0 0 0.00448238 0 0 PAMR1 25891 broad.mit.edu 37 11 35456112 35456112 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:35456112C>T ENST00000378880.2 - 10 2019 c.1574G>A c.(1573-1575)gGg>gAg p.G525E PAMR1_ENST00000532848.1_Missense_Mutation_p.G485E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G414E NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 525 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GTAGAATTTCCCCAAAACAAC 0.537000 23 107 0 0 0.00332997 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687810 68687810 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:68687810C>A ENST00000361320.4 + 2 1714 c.1136C>A c.(1135-1137)aCg>aAg p.T379K CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 379 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CCAAAGCCGACGTTTAAGCCC 0.577000 17 58 1.99824e-07 5.58248e-07 0.000566183 1 0 AOC3 8639 broad.mit.edu 37 17 41006513 41006513 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:41006513C>A ENST00000308423.2 + 2 1809 c.1649C>A c.(1648-1650)gCt>gAt p.A550D AOC3_ENST00000591562.1_Missense_Mutation_p.A7D NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 550 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GTCCCCATGGCTGTGCCCTGG 0.662000 17 48 8.00594e-06 2.18319e-05 0.000958276 1 0 TESPA1 9840 broad.mit.edu 37 12 55356756 55356756 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:55356756C>T ENST00000524622.1 - 7 1173 c.512G>A c.(511-513)aGg>aAg p.R171K TESPA1_ENST00000449076.1_Missense_Mutation_p.R309K|TESPA1_ENST00000532804.1_Missense_Mutation_p.R171K|TESPA1_ENST00000531122.1_Missense_Mutation_p.R171K|TESPA1_ENST00000316577.8_Missense_Mutation_p.R309K NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 309 CAAACTGTTCCTTTTGGGGGT 0.532000 15 46 0 0 0.00316338 0 0 PACSIN1 29993 broad.mit.edu 37 6 34496436 34496436 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:34496436C>T ENST00000538621.1 + 4 483 c.238C>T c.(238-240)Ctg>Ttg p.L80L PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Silent_p.L38L|PACSIN1_ENST00000244458.2_Silent_p.L80L NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 80 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GTATGGCAGCCTGGAGCGGGC 0.582000 37 131 0 0 0.00428921 0 0 SLC45A3 85414 broad.mit.edu 37 1 205631061 205631061 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:205631061G>A ENST00000367145.3 - 4 1447 c.1152C>T c.(1150-1152)ctC>ctT p.L384L SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 384 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TGAACCCGGTGAGGGCGGCTG 0.622000 T """ETV1, ETV5, ELK4, ERG""" prostate 11 48 0 0 0.000978159 0 0 RGAG4 340526 broad.mit.edu 37 X 71351044 71351044 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:71351044C>T ENST00000545866.1 - 1 714 c.347G>A c.(346-348)gGg>gAg p.G116E RGAG4_ENST00000479991.1_Missense_Mutation_p.G116E|NHSL2_ENST00000540800.1_Intron Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 116 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GTCAGCGGGCCCGTCGGGGGT 0.697000 6 12 0 0 0.00198382 0 0 HADHB 3032 broad.mit.edu 37 2 26500001 26500001 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:26500001A>G ENST00000317799.5 + 7 519 c.415A>G c.(415-417)Atc>Gtc p.I139V HADHB_ENST00000405867.3_Missense_Mutation_p.I139V|HADHB_ENST00000545822.1_Missense_Mutation_p.I117V|HADHB_ENST00000537713.1_Missense_Mutation_p.I124V|HADHB_ENST00000494615.1_3'UTR NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 139 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATGGCTTGTATCTCTGCCAA 0.403000 14 19 0 0 0.00316338 0 0 LTN1 26046 broad.mit.edu 37 21 30318479 30318479 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr21:30318479G>A ENST00000361371.4 - 20 3768 c.3618C>T c.(3616-3618)ttC>ttT p.F1206F LTN1_ENST00000389194.2_Silent_p.F1252F NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1206 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CCTACCAACTGAAAAGAAAAA 0.308000 17 98 0 0 0.000958276 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805805 31805805 + RNA SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:31805805G>T ENST00000405650.1 - 0 331 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GGCAGCTCCTGCAGGAACCAG 0.706000 22 13 1.1804e-14 3.40483e-14 0.00395357 1 0 DPY19L2 283417 broad.mit.edu 37 12 63964555 63964555 + Nonsense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:63964555G>T ENST00000324472.4 - 20 2166 c.1983C>A c.(1981-1983)taC>taA p.Y661* DPY19L2_ENST00000413230.2_Nonsense_Mutation_p.Y108* NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 661 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CTGCATCTTCGTAATGTGGAT 0.418000 18 89 1.33834e-09 3.79195e-09 0.000958276 1 0 FSCB 84075 broad.mit.edu 37 14 44975031 44975031 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:44975031G>A ENST00000340446.4 - 1 1451 c.1160C>T c.(1159-1161)cCc>cTc p.P387L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 387 Pro-rich. cilium p.P387L(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TTGTGCTGAGGGAGACCGAAT 0.527000 33 111 0 0 0.00375469 0 0 C1orf168 199920 broad.mit.edu 37 1 57209833 57209833 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:57209833C>T ENST00000343433.6 - 10 1574 c.1494G>A c.(1492-1494)agG>agA p.R498R C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 498 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ACACCTCTTTCCTGGAGTACT 0.408000 27 91 0 0 0.00465635 0 0 COL13A1 1305 broad.mit.edu 37 10 71631932 71631932 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:71631932C>T ENST00000356340.3 + 3 901 c.364_splice c.e3-1 p.A122_splice COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398966.3_Splice_Site_p.A122_splice|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398964.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398971.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398974.3_Splice_Site_p.A122_splice|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398968.3_Splice_Site_p.A122_splice Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 122 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CGTCACTCTTCATTTCAGGGT 0.483000 8 36 0 0 0.00448238 0 0 OSMR 9180 broad.mit.edu 37 5 38933124 38933124 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:38933124C>T ENST00000274276.3 + 18 2920 c.2518C>T c.(2518-2520)Ctc>Ttc p.L840F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 840 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTACCTTTATCTCCTTCCAAC 0.468000 37 137 0 0 0.000953801 0 0 GBP5 115362 broad.mit.edu 37 1 89729518 89729518 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:89729518C>A ENST00000343435.5 - 9 1799 c.1263G>T c.(1261-1263)aaG>aaT p.K421N GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.K421N NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 421 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) AAATTCCCTGCTTCACTGCTT 0.423000 54 150 1.86277e-20 5.53291e-20 0.00361006 1 0 AKT2 208 broad.mit.edu 37 19 40739814 40739814 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:40739814G>A ENST00000392038.2 - 14 1709 c.1411C>T c.(1411-1413)Ccc>Tcc p.P471S AKT2_ENST00000311278.6_Missense_Mutation_p.P428S|AKT2_ENST00000424901.1_Missense_Mutation_p.P471S NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 471 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GAGAACTGGGGGAAGTGGGTC 0.642000 A """ovarian, pancreatic """ 10 26 0 0 0.000673444 0 0 CLVS2 134829 broad.mit.edu 37 6 123332247 123332247 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:123332247C>T ENST00000275162.4 + 3 1842 c.507C>T c.(505-507)ttC>ttT p.F169F CLVS2_ENST00000368438.1_Silent_p.F23F NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 169 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACTTCACTTTCAAGCAAGCCT 0.413000 14 75 0 0 0.00316338 0 0 MLKL 197259 broad.mit.edu 37 16 74719469 74719469 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:74719469C>G ENST00000308807.7 - 5 1198 c.735G>C c.(733-735)caG>caC p.Q245H MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 245 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TATTGAAAGTCTGCCTCACTA 0.398000 3 23 0 0 6.4e-05 0 0 MAOB 4129 broad.mit.edu 37 X 43652760 43652760 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:43652760C>A ENST00000378069.4 - 8 981 c.834G>T c.(832-834)ctG>ctT p.L278L MAOB_ENST00000538942.1_Silent_p.L262L|MAOB_ENST00000536181.1_Silent_p.L262L NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 278 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCATCATTGGCAGAGGGGGAT 0.413000 24 63 1.42536e-11 4.08193e-11 0.00465635 1 0 NPHP1 4867 broad.mit.edu 37 2 110962526 110962526 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:110962526C>A ENST00000316534.4 - 1 93 c.20G>T c.(19-21)cGa>cTa p.R7L NPHP1_ENST00000417665.1_Missense_Mutation_p.R7L|NPHP1_ENST00000393272.3_Missense_Mutation_p.R7L|NPHP1_ENST00000418527.1_Missense_Mutation_p.R7L|NPHP1_ENST00000445609.2_Missense_Mutation_p.R7L|NPHP1_ENST00000355301.4_Missense_Mutation_p.R7L O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 7 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 GAGAGGATCTCGCTGTCGTCT 0.662000 5 48 2.7689e-08 7.76262e-08 0.00198382 1 0 PTK2B 2185 broad.mit.edu 37 8 27289833 27289833 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:27289833G>A ENST00000397501.1 + 15 1750 c.942G>A c.(940-942)gaG>gaA p.E314E PTK2B_ENST00000420218.2_Silent_p.E314E|PTK2B_ENST00000338238.4_Silent_p.E314E|PTK2B_ENST00000346049.5_Silent_p.E314E|PTK2B_ENST00000517339.1_Silent_p.E314E|PTK2B_ENST00000544172.1_Silent_p.E314E|PTK2B_ENST00000397497.4_Silent_p.E60E NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 314 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCCCGCTGGAGGAGGGCCAGG 0.622000 7 28 0 0 0.00307968 0 0 HDAC4 9759 broad.mit.edu 37 2 240036972 240036972 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:240036972G>A ENST00000345617.3 - 13 2344 c.1553C>T c.(1552-1554)cCg>cTg p.P518L HDAC4_ENST00000543185.1_Missense_Mutation_p.P102L|HDAC4_ENST00000541256.1_Missense_Mutation_p.P492L NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 518 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTGGCTCTCCGGCTGCCGGGC 0.652000 31 53 0 0 0.00327116 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112633 148112633 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:148112633G>A ENST00000361727.3 + 24 4437 c.3921G>A c.(3919-3921)gcG>gcA p.A1307A CNTNAP2_ENST00000538075.1_Silent_p.A366A|CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1307 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) CAGAGAGCGCGGACGCCGCCA 0.552000 HNSCC(39;0.1) 15 58 0 0 0.00244969 0 0 BAGE2 85319 broad.mit.edu 37 21 11058282 11058282 + RNA SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr21:11058282G>A ENST00000470054.1 - 0 365 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTCTTCACAGCATTTGATAG 0.403000 5 178 0 0 0.00116845 0 0 DOCK7 85440 broad.mit.edu 37 1 62960063 62960063 + Silent SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:62960063T>C ENST00000251157.5 - 40 5106 c.5073A>G c.(5071-5073)gaA>gaG p.E1691E DOCK7_ENST00000340370.5_Silent_p.E1669E NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1700 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GATTGCTTCGTTCTGAGTGCT 0.478000 17 56 0 0 0.000958276 0 0 CHD6 84181 broad.mit.edu 37 20 40049688 40049688 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:40049688G>A ENST00000373233.3 - 31 5764 c.5587C>T c.(5587-5589)Cac>Tac p.H1863Y NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1863 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) tcatcACTGTGGTTCTGACTC 0.428000 20 72 0 0 0.000958276 0 0 TET3 200424 broad.mit.edu 37 2 74328683 74328683 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:74328683G>A ENST00000409262.3 + 9 4363 c.4363G>A c.(4363-4365)Gag>Aag p.E1455K NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1455 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGATCCAGCGAGAAGCTGTT 0.652000 6 15 0 0 0.00116845 0 0 FAXDC2 10826 broad.mit.edu 37 5 154214195 154214195 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:154214195G>A ENST00000326080.5 - 4 657 c.234C>T c.(232-234)ctC>ctT p.L78L FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000520968.1_Silent_p.L78L|FAXDC2_ENST00000518651.1_Silent_p.L55L|FAXDC2_ENST00000517938.1_Silent_p.L55L NM_032385.3 NP_115761.2 fatty acid hydroxylase domain containing 2 CTATAAAGAAGAGGATCCACT 0.453000 13 40 0 0 0.00185496 0 0 GUSB 2990 broad.mit.edu 37 7 65439597 65439597 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:65439597G>A ENST00000304895.4 - 7 1290 c.1160C>T c.(1159-1161)cCc>cTc p.P387L GUSB_ENST00000421103.1_Missense_Mutation_p.P241L|GUSB_ENST00000345660.6_Missense_Mutation_p.P336L NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 387 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CTCTGCATAGGGGTAGTGGCT 0.597000 19 59 0 0 0.00152264 0 0 CPB2 1361 broad.mit.edu 37 13 46632457 46632457 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr13:46632457C>G ENST00000181383.4 - 9 872 c.856G>C c.(856-858)Gaa>Caa p.E286Q CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E249Q|CPB2-AS1_ENST00000606991.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 286 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ACTTCTGGTTCTGACTCAGGA 0.428000 16 91 0 0 0.000566183 0 0 LRRC4 64101 broad.mit.edu 37 7 127670131 127670131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:127670131G>C ENST00000249363.3 - 2 820 c.563C>G c.(562-564)tCt>tGt p.S188C SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 188 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) AGCTCCCTCAGAGATATACTC 0.557000 14 57 0 0 0.00185496 0 0 DVL1 1855 broad.mit.edu 37 1 1273500 1273500 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:1273500G>A ENST00000378888.5 - 14 1855 c.1571C>T c.(1570-1572)cCg>cTg p.P524L DVL1_ENST00000378891.5_Missense_Mutation_p.P499L O14640 DVL1_HUMAN dishevelled segment polarity protein 1 524 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GTGGGGCAGCGGGGCCAGCGT 0.721000 7 16 0 0 0.00307968 0 0 ZNF224 7767 broad.mit.edu 37 19 44611712 44611712 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:44611712C>T ENST00000336976.6 + 6 1653 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 467 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GAGCTTTAGTCGGGCCCCATG 0.438000 19 62 0 0 0.00074312 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72005625 72005625 + Silent SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:72005625C>G ENST00000378743.3 - 32 6028 c.5670G>C c.(5668-5670)ctG>ctC p.L1890L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1890 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTTGAAGTTTCAGAATCTGAA 0.363000 12 45 0 0 0.00400662 0 0 REV3L 5980 broad.mit.edu 37 6 111693797 111693797 + Splice_Site SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:111693797A>G ENST00000435970.1 - 15 6342 c.e15+1 REV3L_ENST00000368805.1_Splice_Site|REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000358835.3_Splice_Site O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ATAACTGATTACCTGGGCTTT 0.348000 DNA polymerases (catalytic subunits) 18 67 0 0 0.000566183 0 0 LIPI 149998 broad.mit.edu 37 21 15561401 15561401 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr21:15561401G>T ENST00000344577.2 - 2 474 c.449C>A c.(448-450)aCc>aAc p.T150N LIPI_ENST00000536861.1_Missense_Mutation_p.T129N NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 129 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AACTTTTCTGGTGTTTTTAAC 0.328000 9 61 7.48243e-07 2.07585e-06 0.000442599 1 0 DEFA4 1669 broad.mit.edu 37 8 6794389 6794389 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr8:6794389G>T ENST00000297435.2 - 2 157 c.33C>A c.(31-33)ctC>ctA p.L11L NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 11 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GGGCTACCAAGAGAATAGCAG 0.602000 8 37 0.000157383 0.000423398 0.00307968 1 0 IRF1 3659 broad.mit.edu 37 5 131819732 131819732 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:131819732C>T ENST00000245414.4 - 10 1147 c.889G>A c.(889-891)Gat>Aat p.D297N IRF1_ENST00000405885.2_Missense_Mutation_p.D297N NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 297 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TTCTTCAGATCTGTGAAGACA 0.582000 18 77 0 0 0.00152264 0 0 MYH4 4622 broad.mit.edu 37 17 10348460 10348460 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:10348460C>A ENST00000255381.2 - 37 5409 c.5299G>T c.(5299-5301)Gcc>Tcc p.A1767S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1767 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCCATCATGGCAGCCTAGTTA 0.473000 53 159 3.4597e-24 1.03532e-23 0.00361006 1 0 IRF1 3659 broad.mit.edu 37 5 131820143 131820143 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:131820143C>T ENST00000245414.4 - 9 1022 c.764G>A c.(763-765)gGg>gAg p.G255E IRF1_ENST00000405885.2_Missense_Mutation_p.G255E NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 255 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) GAGTAGGTACCCCTTCCCATC 0.552000 22 141 0 0 0.00229938 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777495 43777495 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:43777495G>A ENST00000389420.3 - 31 4662 c.4663C>T c.(4663-4665)Cga>Tga p.R1555* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1555 TSP type-1 13. proteinaceous extracellular matrix zinc ion binding p.R1555*(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CACTCCATTCGTTGATGTGAA 0.343000 8 55 0 0 0.00448238 0 0 KIF21B 23046 broad.mit.edu 37 1 200954056 200954056 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:200954056C>T ENST00000332129.2 - 27 4050 c.3734G>A c.(3733-3735)cGg>cAg p.R1245Q KIF21B_ENST00000461742.2_Missense_Mutation_p.R1245Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1245Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1245Q NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1245 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATTGCGGGGCCGAGTGGGAGG 0.627000 12 48 0 0 0.00244969 0 0 JPH3 57338 broad.mit.edu 37 16 87636924 87636924 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:87636924G>A ENST00000284262.2 + 1 414 c.172G>A c.(172-174)Ggc>Agc p.G58S NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 58 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CTGGCCCAGCGGCAACACGTA 0.682000 9 27 0 0 0.000442599 0 0 TMC3 342125 broad.mit.edu 37 15 81648086 81648086 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:81648086C>G ENST00000558726.1 - 9 1050 c.915G>C c.(913-915)gaG>gaC p.E305D TMC3_ENST00000359440.5_Missense_Mutation_p.E305D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 305 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TTTTCTTTTTCTCCTGTTCTT 0.284000 14 44 0 0 0.00074312 0 0 EDA 1896 broad.mit.edu 37 X 69253320 69253320 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:69253320G>A ENST00000374552.4 + 7 1108 c.866G>A c.(865-867)cGc>cAc p.R289H EDA_ENST00000374553.2_Missense_Mutation_p.R289H|EDA_ENST00000524573.1_Missense_Mutation_p.R286H NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 289 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 CTACATCCCCGCAGCGGGGAG 0.498000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 116 0 0 0.00283554 0 0 HOXC11 3227 broad.mit.edu 37 12 54367367 54367367 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:54367367C>A ENST00000546378.1 + 1 458 c.342C>A c.(340-342)ctC>ctA p.L114L HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Silent_p.L114L O43248 HXC11_HUMAN homeobox C11 114 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 CCGAGATCCTCATGAAAAACG 0.637000 T NUP98 AML 54 193 2.47907e-22 7.39095e-22 0.00361006 1 0 MIR31HG 554202 broad.mit.edu 37 9 21455940 21455940 + RNA SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr9:21455940C>G ENST00000304425.3 - 0 445 NR_027054.1 GAATCCATCTCTACCTGAAAG 0.473000 6 4 0 0 0.00116845 0 0 CATSPER2 117155 broad.mit.edu 37 15 43927989 43927989 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:43927989C>T ENST00000396879.1 - 10 1169 c.1057G>A c.(1057-1059)Gag>Aag p.E353K CATSPER2_ENST00000321596.5_Missense_Mutation_p.E353K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.E359K|CATSPER2_ENST00000355438.2_Missense_Mutation_p.E353K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.E353K|STRC_ENST00000541030.1_Intron Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 353 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCCATCTCCTCATTCAGCTCT 0.502000 16 43 0 0 0.00400662 0 0 SVILP1 645954 broad.mit.edu 37 10 30986357 30986357 + RNA SNP T T C rs117915096 by1000genomes TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:30986357T>C ENST00000435645.1 + 0 347 CGGCGCTCAATAGTGGGGACT 0.552000 3 14 0 0 0.00024832 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206550 142206550 + RNA SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:142206550C>T ENST00000426318.2 - 0 355 TGTCTGGGAGCGGGTAGCTGA 0.522000 23 70 0 0 0.000878237 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891362 2891362 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr18:2891362G>A ENST00000254528.3 + 4 1396 c.1237G>A c.(1237-1239)Gac>Aac p.D413N NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 413 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CAAGACATTGGACCAGAAAAT 0.473000 9 45 0 0 0.00448238 0 0 JMJD8 339123 broad.mit.edu 37 16 733066 733066 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:733066C>T ENST00000293882.4 - 8 810 c.811G>A c.(811-813)Gag>Aag p.E271K JMJD8_ENST00000454700.1_Missense_Mutation_p.E241K|JMJD8_ENST00000412368.2_Missense_Mutation_p.E222K|JMJD8_ENST00000562824.1_Missense_Mutation_p.E171K|JMJD8_ENST00000562111.1_Intron Q96S16 JMJD8_HUMAN jumonji domain containing 8 271 JmjC. breast(1) 1 GGCGTCTTCTCAGGTGGGTAA 0.637000 28 89 0 0 0.00178596 0 0 NFATC4 4776 broad.mit.edu 37 14 24845916 24845916 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr14:24845916C>T ENST00000413692.2 + 10 2806 c.2662C>T c.(2662-2664)Ccc>Tcc p.P888S NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.P755S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P813S|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P755S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P857S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P825S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P857S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P113S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P755S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P113S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P838S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.P838S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000555167.1_Missense_Mutation_p.P360S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P813S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P825S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 825 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GCTTGAAGGCCCCTTCCCTTC 0.642000 40 181 0 0 0.00195071 0 0 CD209 30835 broad.mit.edu 37 19 7809868 7809868 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:7809868C>T ENST00000315599.7 - 5 881 c.859G>A c.(859-861)Gtg>Atg p.V287M CD209_ENST00000593821.1_Missense_Mutation_p.V151M|CD209_ENST00000315591.8_Missense_Mutation_p.V263M|CD209_ENST00000394173.4_Missense_Mutation_p.V126M|CD209_ENST00000593660.1_Missense_Mutation_p.V217M|CD209_ENST00000601951.1_Missense_Mutation_p.V263M|CD209_ENST00000354397.6_Missense_Mutation_p.V287M|CD209_ENST00000602261.1_Missense_Mutation_p.V195M|CD209_ENST00000204801.8_Missense_Mutation_p.V243M|CD209_ENST00000301357.8_Missense_Mutation_p.V151M|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.V263M NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 287 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGGGCCCCCACTTCTTTGCAG 0.587000 17 80 0 0 0.000566183 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713559 30713559 + Nonsense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr3:30713559C>G ENST00000295754.5 + 4 1266 c.884C>G c.(883-885)tCa>tGa p.S295* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 295 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.S295*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GACATCTTCTCAGACATCAAT 0.493000 24 55 0 0 0.000878237 0 0 GPR25 2848 broad.mit.edu 37 1 200842300 200842300 + Silent SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:200842300C>G ENST00000304244.2 + 1 218 c.135C>G c.(133-135)ctC>ctG p.L45L NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 45 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 TCCCCGCGCTCTACCTGGCGG 0.721000 5 18 0 0 0.00116845 0 0 KIF17 57576 broad.mit.edu 37 1 21031314 21031314 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:21031314G>A ENST00000247986.2 - 5 1059 c.749C>T c.(748-750)aCc>aTc p.T250I KIF17_ENST00000400463.3_Missense_Mutation_p.T250I|KIF17_ENST00000375044.1_Missense_Mutation_p.T150I Q9P2E2 KIF17_HUMAN kinesin family member 17 250 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CGTGGCCCCGGTCTTGGACTG 0.667000 11 78 0 0 0.00136819 0 0 GSAP 54103 broad.mit.edu 37 7 76950665 76950665 + Missense_Mutation SNP G G A rs6950836 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:76950665G>A ENST00000257626.7 - 25 2057 c.1979C>T c.(1978-1980)tCc>tTc p.S660F GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron NM_017439.3 NP_059135.2 gamma-secretase activating protein GAGAACCCAGGAATGAAGATT 0.423000 5 21 0 0 0.00116845 0 0 CRB2 286204 broad.mit.edu 37 9 126136903 126136903 + Silent SNP C C T rs148933240 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr9:126136903C>T ENST00000373631.3 + 11 3436 c.3435C>T c.(3433-3435)ctC>ctT p.L1145L CRB2_ENST00000373629.2_Silent_p.L813L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 1145 EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding p.L1145L(1) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCACCTGCCTCGATGGCAGCC 0.657000 20 28 0 0 0.00121646 0 0 ABHD17B 51104 broad.mit.edu 37 9 74489807 74489807 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr9:74489807C>A ENST00000333421.6 - 2 301 c.190G>T c.(190-192)Gat>Tat p.D64Y ABHD17B_ENST00000377041.2_Missense_Mutation_p.D64Y NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B TCAATAGCATCTTTTTCTCTA 0.413000 7 70 5.18039e-06 1.42238e-05 0.00307968 1 0 C11orf87 399947 broad.mit.edu 37 11 109294892 109294892 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:109294892C>A ENST00000327419.6 + 2 936 c.533C>A c.(532-534)gCa>gAa p.A178E RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 178 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGAGCACACGCAGCTTCCTCC 0.637000 21 34 4.35082e-09 1.22405e-08 0.00152264 1 0 ARID2 196528 broad.mit.edu 37 12 46245639 46245639 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:46245639C>T ENST00000334344.6 + 15 3905 c.3733C>T c.(3733-3735)Caa>Taa p.Q1245* ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1096*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q855*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1245 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATAATTTGCCAAAAGGAGGA 0.458000 """N, S, F""" hepatocellular carcinoma 14 57 0 0 0.00244969 0 0 ZNF211 10520 broad.mit.edu 37 19 58152875 58152875 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:58152875T>C ENST00000544273.1 + 5 1384 c.1057T>C c.(1057-1059)Tat>Cat p.Y353H ZNF211_ENST00000420680.1_Missense_Mutation_p.Y345H|ZNF211_ENST00000541801.1_Missense_Mutation_p.Y332H|ZNF211_ENST00000240731.4_Missense_Mutation_p.Y354H|ZNF211_ENST00000254182.7_Missense_Mutation_p.Y332H|ZNF211_ENST00000299871.5_Missense_Mutation_p.Y406H|ZNF211_ENST00000391703.3_Missense_Mutation_p.Y280H|ZNF211_ENST00000347302.3_Missense_Mutation_p.Y341H Q13398 ZN211_HUMAN zinc finger protein 211 341 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAAAGGCCTTATGAATGTGG 0.463000 17 56 0 0 0.000566183 0 0 TMEM159 57146 broad.mit.edu 37 16 21181823 21181823 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:21181823C>T ENST00000233047.4 + 3 630 c.162C>T c.(160-162)acC>acT p.T54T TMEM159_ENST00000572258.1_Silent_p.T54T|TMEM159_ENST00000572599.1_Silent_p.T54T|TMEM159_ENST00000261388.3_Silent_p.T54T|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000451578.2_Silent_p.T78T Q96B96 TM159_HUMAN transmembrane protein 159 54 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) TGGCCTTCACCTTGCTGGTGT 0.522000 38 124 0 0 0.00170553 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 3 66 0 0 0.000602214 0 0 SLF2 55719 broad.mit.edu 37 10 102676401 102676401 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:102676401G>C ENST00000238961.3 + 3 407 c.259G>C c.(259-261)Gag>Cag p.E87Q FAM178A_ENST00000370271.3_Missense_Mutation_p.E87Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E87Q NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 87 CACTGGGACAGAGCAGTTTGA 0.373000 10 26 0 0 0.000673444 0 0 PKHD1 5314 broad.mit.edu 37 6 51921548 51921548 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:51921548G>A ENST00000371117.3 - 18 1916 c.1641C>T c.(1639-1641)tgC>tgT p.C547C PKHD1_ENST00000340994.4_Silent_p.C547C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 547 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTTCCAGTTTGCATTTTACTG 0.413000 24 82 0 0 0.00332997 0 0 ULK1 8408 broad.mit.edu 37 12 132401500 132401500 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:132401500C>T ENST00000321867.4 + 21 2426 c.2075C>T c.(2074-2076)tCt>tTt p.S692F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 692 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TCCCACAGGTCTTTCAGCACC 0.657000 5 44 0 0 0.000602214 0 0 TOX3 27324 broad.mit.edu 37 16 52484290 52484290 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:52484290C>T ENST00000219746.9 - 4 861 c.577G>A c.(577-579)Gcc>Acc p.A193T TOX3_ENST00000407228.3_Missense_Mutation_p.A188T NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 193 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GGCATACTGGCACCTCCCAAA 0.567000 36 122 0 0 0.000953801 0 0 AKT1S1 84335 broad.mit.edu 37 19 50374957 50374957 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:50374957C>T ENST00000391833.1 - 3 2463 c.474G>A c.(472-474)gaG>gaA p.E158E AKT1S1_ENST00000391835.1_Silent_p.E178E|AKT1S1_ENST00000391832.3_Silent_p.E158E|AKT1S1_ENST00000391834.2_Silent_p.E158E|AKT1S1_ENST00000391831.1_Silent_p.E158E|AKT1S1_ENST00000344175.5_Silent_p.E158E NM_001278160.1 NP_001265089.1 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 158 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CGGGGGTCTCCTCGCTCAGGC 0.667000 26 72 0 0 0.00395357 0 0 ADGRG6 57211 broad.mit.edu 37 6 142764560 142764560 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:142764560G>C ENST00000367609.3 + 25 4062 c.3661G>C c.(3661-3663)Gat>Cat p.D1221H GPR126_ENST00000367608.2_Missense_Mutation_p.D1193H|GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000230173.6_3'UTR NM_198569.2 NP_940971.1 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCAGGTCATTGATAAGGTCAA 0.398000 52 168 0 0 0.00361006 0 0 PDZD2 23037 broad.mit.edu 37 5 32088220 32088220 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:32088220G>A ENST00000438447.1 + 20 5054 c.4666G>A c.(4666-4668)Gag>Aag p.E1556K PDZD2_ENST00000282493.3_Missense_Mutation_p.E1556K O15018 PDZD2_HUMAN PDZ domain containing 2 1556 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGGCGATGCTGAGGATTCTTC 0.542000 28 64 0 0 0.001512 0 0 ITGB1 3688 broad.mit.edu 37 10 33199181 33199181 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:33199181C>T ENST00000396033.2 - 14 2269 c.2134G>A c.(2134-2136)Gag>Aag p.E712K ITGB1_ENST00000374956.4_Missense_Mutation_p.E712K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E712K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E712K NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 712 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) ACCATGACCTCGTTGTTCCCA 0.423000 4 30 0 0 0.000602214 0 0 CNBD2 140894 broad.mit.edu 37 20 34596243 34596243 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:34596243A>G ENST00000373973.3 + 9 1168 c.995A>G c.(994-996)aAg>aGg p.K332R CNBD2_ENST00000538900.1_Missense_Mutation_p.K332R|CNBD2_ENST00000349339.1_Missense_Mutation_p.K332R cyclic nucleotide binding domain containing 2 GAAAGATTTAAGGAATTCCAG 0.408000 37 110 0 0 0.000953801 0 0 CPD 1362 broad.mit.edu 37 17 28706100 28706100 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:28706100C>G ENST00000225719.4 + 1 178 c.102C>G c.(100-102)atC>atG p.I34M NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 34 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CGGCTCACATCAAGAAGGCGG 0.706000 3 5 0 0 6.4e-05 0 0 SHANK1 50944 broad.mit.edu 37 19 51192464 51192464 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:51192464C>T ENST00000293441.1 - 15 2055 c.2037G>A c.(2035-2037)cgG>cgA p.R679R SHANK1_ENST00000391814.1_Silent_p.R679R|SHANK1_ENST00000391813.1_Silent_p.R66R|SHANK1_ENST00000359082.3_Silent_p.R670R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 679 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCTTGGCCCCCCGGAGCACGA 0.612000 11 94 0 0 0.00185496 0 0 NOL10 79954 broad.mit.edu 37 2 10729194 10729194 + Missense_Mutation SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:10729194A>T ENST00000345985.3 - 18 1779 c.1669T>A c.(1669-1671)Tct>Act p.S557T NOL10_ENST00000381685.5_Missense_Mutation_p.S607T|NOL10_ENST00000542668.1_Missense_Mutation_p.S557T|NOL10_ENST00000538384.1_Missense_Mutation_p.S581T NM_001261394.1 NP_001248323.1 Q9BSC4 NOL10_HUMAN nucleolar protein 10 607 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TTTGTGGCAGAATCTTTGAAG 0.478000 65 80 0 0 0.00361006 0 0 BET1L 51272 broad.mit.edu 37 11 205338 205338 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:205338G>A ENST00000382762.3 - 4 406 c.300C>T c.(298-300)ttC>ttT p.F100F BET1L_ENST00000529614.2_Silent_p.F81F|RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000486280.1_Silent_p.F77F|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000332865.6_3'UTR|BET1L_ENST00000325147.9_3'UTR NM_001098787.1|NM_016526.4 NP_001092257.1|NP_057610.2 Q9NYM9 BET1L_HUMAN Bet1 golgi vesicular membrane trafficking protein-like 100 protein transport|retrograde transport, endosome to Golgi endosome|SNARE complex SNAP receptor activity all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGAGAGGATGAAGAAGGCCA 0.567000 9 28 0 0 0.000442599 0 0 SALL1 6299 broad.mit.edu 37 16 51171359 51171359 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr16:51171359G>A ENST00000440970.1 - 3 3779 c.3348C>T c.(3346-3348)ttC>ttT p.F1116F SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000251020.4_Silent_p.F1213F NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1213 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACATTTCTGGGAACTTGACGG 0.567000 13 48 0 0 0.00136819 0 0 FCGBP 8857 broad.mit.edu 37 19 40368526 40368526 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:40368526G>A ENST00000221347.6 - 28 12829 c.12822C>T c.(12820-12822)taC>taT p.Y4274Y NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4274 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGGGCCCTCGTACTGCTCCA 0.657000 6 80 0 0 0.00327116 0 0 KIF25 3834 broad.mit.edu 37 6 168434601 168434601 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:168434601C>T ENST00000443060.2 + 5 598 c.207C>T c.(205-207)agC>agT p.S69S KIF25_ENST00000354419.2_Silent_p.S69S|KIF25_ENST00000351261.3_Silent_p.S69S Q9UIL4 KIF25_HUMAN kinesin family member 25 69 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGACGGGCAGCGGAAAGAGCT 0.517000 15 62 0 0 0.00316338 0 0 CELSR2 1952 broad.mit.edu 37 1 109812163 109812163 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:109812163G>A ENST00000271332.3 + 21 6991 c.6930G>A c.(6928-6930)gaG>gaA p.E2310E NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2310 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCCTGCTGGAGACAGAGGAGC 0.607000 16 73 0 0 0.00400662 0 0 NHS 4810 broad.mit.edu 37 X 17744773 17744773 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:17744773G>A ENST00000380060.3 + 6 2822 c.2484G>A c.(2482-2484)ccG>ccA p.P828P NHS_ENST00000398097.3_Silent_p.P672P NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 828 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AGGCAAAGCCGACCCCACCTA 0.502000 29 141 0 0 0.00127121 0 0 STK33 65975 broad.mit.edu 37 11 8478907 8478907 + Silent SNP T T A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:8478907T>A ENST00000447869.1 - 5 1596 c.678A>T c.(676-678)atA>atT p.I226I STK33_ENST00000315204.1_Silent_p.I226I|STK33_ENST00000358872.3_Silent_p.I39I|STK33_ENST00000396672.1_Silent_p.I226I|STK33_ENST00000396673.1_Silent_p.I226I|STK33_ENST00000534493.1_Silent_p.I185I Q9BYT3 STK33_HUMAN serine/threonine kinase 33 226 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GAAGATATGCTATAGCTGATG 0.388000 12 39 0 0 0.00136819 0 0 RAVER1 125950 broad.mit.edu 37 19 10444126 10444126 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:10444126C>T ENST00000293677.6 - 1 190 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 20 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GCTTCGACTTCGGCCCCAGAC 0.692000 26 50 0 0 0.00395357 0 0 KMT2B 9757 broad.mit.edu 37 19 36228844 36228844 + Splice_Site SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:36228844G>C ENST00000222270.7 + 35 7742 c.e35+1 KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Splice_Site NM_014727.1 NP_055542.1 GTGTCTACAGGTGAGTGGGGT 0.612000 7 10 0 0 0.00198382 0 0 TMC4 147798 broad.mit.edu 37 19 54664964 54664964 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:54664964G>A ENST00000376591.4 - 12 1869 c.1738C>T c.(1738-1740)Cgc>Tgc p.R580C TMC4_ENST00000301187.4_Missense_Mutation_p.R574C|TMC4_ENST00000416963.1_Missense_Mutation_p.R162C NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 580 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGGAAGGTGCGGGCAGCCGGG 0.562000 8 19 0 0 0.00307968 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579445 11579445 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:11579445G>T ENST00000294484.6 + 8 2061 c.1923G>T c.(1921-1923)ctG>ctT p.L641L PTCHD2_ENST00000389575.3_Silent_p.L641L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 641 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGACCTCCCTGCACTTCCCCG 0.652000 55 159 7.06795e-37 2.13912e-36 0.00361006 1 0 GNB2 2783 broad.mit.edu 37 7 100276155 100276155 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:100276155C>T ENST00000303210.4 + 9 1316 c.834C>T c.(832-834)ttC>ttT p.F278F GNB2_ENST00000427895.1_Silent_p.F178F|GNB2_ENST00000424361.1_Silent_p.F234F|GNB2_ENST00000393926.1_Silent_p.F278F|GNB2_ENST00000393924.1_Silent_p.F278F|GNB2_ENST00000436220.1_Silent_p.F234F|GNB2_ENST00000419828.1_Silent_p.F178F NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 278 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CTGTTGCCTTCTCGCGCAGCG 0.622000 19 48 0 0 0.00121646 0 0 EVA1A 84141 broad.mit.edu 37 2 75720729 75720729 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:75720729G>A ENST00000233712.1 - 4 529 c.92C>T c.(91-93)cCt>cTt p.P31L EVA1A_ENST00000410010.1_Missense_Mutation_p.P19L|EVA1A_ENST00000410071.1_Missense_Mutation_p.P31L|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.P31L|EVA1A_ENST00000393913.3_Missense_Mutation_p.P31L NM_032181.2 NP_115557.1 eva-1 homolog A (C. elegans) TGCTCGCTCAGGATTTTCTGG 0.517000 15 18 0 0 0.00316338 0 0 LRP6 4040 broad.mit.edu 37 12 12318022 12318022 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:12318022G>A ENST00000261349.4 - 8 1829 c.1753C>T c.(1753-1755)Cga>Tga p.R585* LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585* NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 585 Beta-propeller 2. 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 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|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding 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) CCAATCACTCGATGAACATTT 0.423000 31 91 0 0 0.0024448 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881304 108881304 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:108881304G>C ENST00000329106.2 + 6 645 c.645G>C c.(643-645)aaG>aaC p.K215N NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 215 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAATTGAGAAGATACTGAAGT 0.398000 6 29 0 0 0.00116845 0 0 UNC13C 440279 broad.mit.edu 37 15 54306178 54306178 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:54306178G>A ENST00000545554.1 + 1 1078 c.1078G>A c.(1078-1080)Gct>Act p.A360T UNC13C_ENST00000537900.1_Missense_Mutation_p.A360T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A360T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 360 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATTGAATTTGCTCAGAGGAT 0.378000 12 31 0 0 0.000978159 0 0 MAP1A 4130 broad.mit.edu 37 15 43819190 43819190 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr15:43819190C>A ENST00000382031.1 + 5 6264 c.6233C>A c.(6232-6234)gCt>gAt p.A2078D MAP1A_ENST00000399453.1_Missense_Mutation_p.A1840D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1840D P78559 MAP1A_HUMAN microtubule-associated protein 1A 1840 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCATGGCTGGCTGACATCCCA 0.612000 21 56 1.87028e-06 5.15295e-06 0.00188189 1 0 C10orf54 64115 broad.mit.edu 37 10 73515124 73515124 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:73515124G>C ENST00000394957.3 - 4 726 c.668C>G c.(667-669)tCc>tGc p.S223C CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 223 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 ACGGCGGTTGGAGGCTGCCTG 0.637000 7 18 0 0 0.00198382 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13928082 13928082 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:13928082G>A ENST00000254323.2 + 7 1422 c.1233G>A c.(1231-1233)ggG>ggA p.G411G ZSWIM4_ENST00000440752.2_Silent_p.G245G NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 411 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GATGGGTGGGGCACCCCCTGG 0.622000 29 72 0 0 0.000878237 0 0 OR5M8 219484 broad.mit.edu 37 11 56258161 56258161 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr11:56258161G>C ENST00000327216.2 - 1 710 c.686C>G c.(685-687)tCt>tGt p.S229C NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GCCCTCTGTAGAGCGAATCTT 0.413000 8 47 0 0 0.00307968 0 0 AWAT1 158833 broad.mit.edu 37 X 69458111 69458111 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:69458111C>A ENST00000374521.3 + 5 551 c.510C>A c.(508-510)ggC>ggA p.G170G NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 170 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 TGAGCCATGGCACTGGCAACC 0.542000 30 76 2.85442e-18 8.44696e-18 0.00209593 1 0 AGAP7 653268 broad.mit.edu 37 10 51465428 51465428 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:51465428T>C ENST00000374095.5 - 7 1153 c.1028A>G c.(1027-1029)gAc>gGc p.D343G NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 343 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 GGTGTCCATGTCCTTGGATAG 0.557000 48 221 0 0 0.00361006 0 0 LAMA4 3910 broad.mit.edu 37 6 112506519 112506519 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr6:112506519C>T ENST00000230538.7 - 9 1394 c.997G>A c.(997-999)Gcc>Acc p.A333T LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T|LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 333 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTCTTAGGGCGTATTGGTTT 0.358000 26 111 0 0 0.00395357 0 0 TFE3 7030 broad.mit.edu 37 X 48891046 48891046 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:48891046C>T ENST00000315869.7 - 8 1329 c.1070G>A c.(1069-1071)cGc>cAc p.R357H TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 357 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GAATCGCCTGCGACGCTCAAC 0.532000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 22 47 0 0 0.00229938 0 0 UNC5A 90249 broad.mit.edu 37 5 176306459 176306459 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr5:176306459G>A ENST00000329542.4 + 14 2607 c.2333G>A c.(2332-2334)cGg>cAg p.R778Q UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 778 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGACTGGCGGACTCTGGCC 0.677000 28 118 0 0 0.0024448 0 0 ABR 29 broad.mit.edu 37 17 961286 961286 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:961286C>T ENST00000544583.2 - 12 1767 c.e12-1 ABR_ENST00000573895.1_5'UTR|ABR_ENST00000302538.5_Splice_Site|ABR_ENST00000574437.1_Splice_Site|ABR_ENST00000291107.2_Splice_Site|ABR_ENST00000536794.2_Splice_Site NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) ACAGGTAACTCTGAAGAGAGG 0.468000 9 30 0 0 0.000442599 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828253 94828253 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr10:94828253G>A ENST00000285949.5 + 6 1368 c.1368G>A c.(1366-1368)gcG>gcA p.A456A NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 456 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GCGGCGGTGCGCGCAGCTGCC 0.706000 5 24 0 0 0.000602214 0 0 XAF1 54739 broad.mit.edu 37 17 6665481 6665481 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:6665481A>G ENST00000361842.3 + 5 668 c.429A>G c.(427-429)agA>agG p.R143R XAF1_ENST00000346752.4_Silent_p.R124R|XAF1_ENST00000441631.1_Silent_p.R143R NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 143 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 CAGGGGAAAGAATTTCAGCTC 0.413000 9 21 0 0 0.00448238 0 0 EPHA2 1969 broad.mit.edu 37 1 16475160 16475161 + Frame_Shift_Ins INS - - A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:16475160_16475161insA ENST00000358432.5 - 3 689_690 c.535_536insT c.(535-537)cctfs p.P179fs EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 179 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GAAGGCCAGGTAGAAGCCTTTG 0.644 20 66 --- --- --- --- C1orf172 126695 broad.mit.edu 37 1 27278782 27278783 + Frame_Shift_Del DEL AT AT - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:27278782_27278783delAT ENST00000320567.5 - 2 177_178 c.89_90delAT c.(88-90)tfs p.Y30fs NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 30 Pro-rich. NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GTGGTTTATCATATGTCTCCAG 0.629 22 63 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202149546 202149551 + In_Frame_Del DEL GACCAC GACCAC - rs139337151 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:202149546_202149551delGACCAC ENST00000358485.4 + 8 1183_1188 c.987_992delGACCAC c.(985-993)ttg>tt p.LTT329del CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_In_Frame_Del_p.LTT270del|CASP8_ENST00000264274.9_In_Frame_Del_p.LTT186del|CASP8_ENST00000264275.5_In_Frame_Del_p.LTT287del|CASP8_ENST00000323492.7_In_Frame_Del_p.LTT255del NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 270 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CAGGGGCTTTGACCACGACCTTTGAA 0.422 HNSCC(4;0.00038) 16 34 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187534466 187534467 + Frame_Shift_Ins INS - - G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:187534466_187534467insG ENST00000441802.2 - 13 9468_9469 c.9259_9260insC c.(9259-9261)tgafs p.*3087fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3087 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGCTCCTCACGATCAAGGGGG 0.446 HNSCC(5;0.00058) 20 73 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187539457 187539469 + Frame_Shift_Del DEL CTTCAGTCTCCCG CTTCAGTCTCCCG - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:187539457_187539469delCTTCAGTCTCCCG ENST00000441802.2 - 10 8480_8492 c.8271_8283delCGGGAGACTGAAG c.(8269-8283)agfs p.SGRLK2757fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2757 Cadherin 25. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.G2758W(1)|p.G2761R(1)|p.G2761W(1)|p.G2758R(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT 0.465 HNSCC(5;0.00058) 49 166 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - - GCG rs72369323 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:43970503_43970504insGCG ENST00000336600.5 + 4 389_390 c.369_370insGCG c.(367-372)cgcggc>cgGCGcggc p.123_124insR RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 123 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.777 8 10 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241029 131241030 + In_Frame_Ins INS - - GGCGAC rs11277659 by1000genomes TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:131241029_131241030insGGCGAC ENST00000541194.1 - 1 346_347 c.89_90insGTCGCC c.(88-90)ctc>cGTCGCCtc p.29_30insRR PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 29 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CATTCTGGGAGggcgacggcga 0.752 2 4 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46123891 46123892 + Frame_Shift_Del DEL AG AG - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:46123891_46123892delAG ENST00000334344.6 + 2 329_330 c.157_158delAG c.(157-159)afs p.R53fs ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 53 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTCTACACCAGAGTCACTACT 0.530 """N, S, F""" hepatocellular carcinoma 10 30 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49420671 49420672 + Frame_Shift_Ins INS - - GGTA TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:49420671_49420672insGGTA ENST00000301067.7 - 48 15076_15077 c.15077_15078insTACC c.(15076-15078)ccgfs p.-5025fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCATGTCTCGCGGTACCTTGTC 0.624 17 88 --- --- --- --- ARGLU1 55082 broad.mit.edu 37 13 107219952 107219953 + In_Frame_Ins INS - - CTC TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:107219952_107219953insCTC ENST00000400198.3 - 1 559_560 c.315_316insGAG c.(313-318)gaagaa>gaGAGagaa p.105_106EE>ERE NM_018011.3 NP_060481.3 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 105 Glu-rich. large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TCCGCTTTCTTCTCCTCCTCCT 0.713 20 86 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 3 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578267 7578268 + Frame_Shift_Ins INS - - AG TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:7578267_7578268insAG ENST00000420246.2 - 6 713_714 c.581_582insCT c.(580-582)catfs p.H194fs TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H194fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.I195fs*52(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACTCGGATAAGATGCTGAGG 0.554 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 47 --- --- --- --- GMIP 51291 broad.mit.edu 37 19 19744918 19744929 + In_Frame_Del DEL CGGCGGCCGCAG CGGCGGCCGCAG - rs146830752 by1000genomes TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:19744918_19744929delCGGCGGCCGCAG ENST00000203556.4 - 19 2292_2303 c.2155_2166delCTGCGGCCGCCG c.(2155-2166)del p.LRPP719del GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_In_Frame_Del_p.LRPP690del|GMIP_ENST00000587238.1_In_Frame_Del_p.LRPP693del NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 719 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC 0.613 9 68 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36218454 36218474 + In_Frame_Del DEL GGGCCTGCGCCAGGTGCTCCA GGGCCTGCGCCAGGTGCTCCA - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA ENST00000222270.7 + 16 4233_4253 c.4233_4253delGGGCCTGCGCCAGGTGCTCCA c.(4231-4254)ggg>gg p.GGLRQVLQ1411del KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_In_Frame_Del_p.GGLRQVLQ1411del NM_014727.1 NP_055542.1 CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG 0.724 17 86 --- --- --- --- DLGAP4 22839 broad.mit.edu 37 20 35075135 35075135 + Frame_Shift_Del DEL G G - rs112014857 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:35075135delG ENST00000373913.3 + 7 1923 c.1443delG c.(1441-1443)gcfs p.A482fs DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.A482fs Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 482 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGTATGAGGCGGCCTGCGAGT 0.632 11 26 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920172 76920173 + Frame_Shift_Ins INS - - T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:76920172_76920173insT ENST00000373344.5 - 11 4118_4119 c.3904_3905insA c.(3904-3906)aacfs p.N1302fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTTCCAGTTCTTTTTTTCCCT 0.376 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 118 --- --- --- --- EPHA2 1969 broad.mit.edu 37 1 16475160 16475161 + Frame_Shift_Ins INS - - A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:16475160_16475161insA ENST00000358432.5 - 3 689_690 c.535_536insT c.(535-537)cctfs p.P179fs EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 179 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GAAGGCCAGGTAGAAGCCTTTG 0.644 20 66 --- --- --- --- C1orf172 126695 broad.mit.edu 37 1 27278782 27278783 + Frame_Shift_Del DEL AT AT - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr1:27278782_27278783delAT ENST00000320567.5 - 2 177_178 c.89_90delAT c.(88-90)tfs p.Y30fs NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 30 Pro-rich. NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GTGGTTTATCATATGTCTCCAG 0.629 22 63 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202149546 202149551 + In_Frame_Del DEL GACCAC GACCAC - rs139337151 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr2:202149546_202149551delGACCAC ENST00000358485.4 + 8 1183_1188 c.987_992delGACCAC c.(985-993)ttg>tt p.LTT329del CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_In_Frame_Del_p.LTT186del|CASP8_ENST00000264275.5_In_Frame_Del_p.LTT287del|CASP8_ENST00000323492.7_In_Frame_Del_p.LTT255del|CASP8_ENST00000432109.2_In_Frame_Del_p.LTT270del NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 270 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CAGGGGCTTTGACCACGACCTTTGAA 0.422 HNSCC(4;0.00038) 16 34 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187534466 187534467 + Frame_Shift_Ins INS - - G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr4:187534466_187534467insG ENST00000441802.2 - 13 9468_9469 c.9259_9260insC c.(9259-9261)tgafs p.*3087fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3087 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGCTCCTCACGATCAAGGGGG 0.446 HNSCC(5;0.00058) 20 73 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187539457 187539469 + Frame_Shift_Del DEL CTTCAGTCTCCCG CTTCAGTCTCCCG - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr4:187539457_187539469delCTTCAGTCTCCCG ENST00000441802.2 - 10 8480_8492 c.8271_8283delCGGGAGACTGAAG c.(8269-8283)agfs p.SGRLK2757fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2757 Cadherin 25. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.G2758W(1)|p.G2761R(1)|p.G2761W(1)|p.G2758R(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT 0.465 HNSCC(5;0.00058) 49 166 --- --- --- --- RP5-905H7.3 0 broad.mit.edu 37 7 62701951 62701952 + RNA INS - - A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr7:62701951_62701952insA ENST00000451381.1 - 0 55 CTTTTTTGGAGAAAAAATATAT 0.337 5 1 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46123891 46123892 + Frame_Shift_Del DEL AG AG - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:46123891_46123892delAG ENST00000334344.6 + 2 329_330 c.157_158delAG c.(157-159)afs p.R53fs ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 53 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTCTACACCAGAGTCACTACT 0.530 """N, S, F""" hepatocellular carcinoma 10 30 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49420671 49420672 + Frame_Shift_Ins INS - - GGTA TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr12:49420671_49420672insGGTA ENST00000301067.7 - 48 15076_15077 c.15077_15078insTACC c.(15076-15078)ccgfs p.-5025fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCATGTCTCGCGGTACCTTGTC 0.624 17 88 --- --- --- --- ARGLU1 55082 broad.mit.edu 37 13 107219952 107219953 + In_Frame_Ins INS - - CTC TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr13:107219952_107219953insCTC ENST00000400198.3 - 1 559_560 c.315_316insGAG c.(313-318)gaagaa>gaGAGagaa p.105_106EE>ERE NM_018011.3 NP_060481.3 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 105 Glu-rich. large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TCCGCTTTCTTCTCCTCCTCCT 0.713 20 86 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578267 7578268 + Frame_Shift_Ins INS - - AG TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:7578267_7578268insAG ENST00000420246.2 - 6 713_714 c.581_582insCT c.(580-582)catfs p.H194fs TP53_ENST00000455263.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H194fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.I195fs*52(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACTCGGATAAGATGCTGAGG 0.554 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 47 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 4 3 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 8 66 --- --- --- --- GMIP 51291 broad.mit.edu 37 19 19744918 19744929 + In_Frame_Del DEL CGGCGGCCGCAG CGGCGGCCGCAG - rs146830752 by1000genomes TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:19744918_19744929delCGGCGGCCGCAG ENST00000203556.4 - 19 2292_2303 c.2155_2166delCTGCGGCCGCCG c.(2155-2166)del p.LRPP719del GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_In_Frame_Del_p.LRPP693del|GMIP_ENST00000445806.2_In_Frame_Del_p.LRPP690del NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 719 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC 0.613 9 68 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36218454 36218474 + In_Frame_Del DEL GGGCCTGCGCCAGGTGCTCCA GGGCCTGCGCCAGGTGCTCCA - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA ENST00000222270.7 + 16 4233_4253 c.4233_4253delGGGCCTGCGCCAGGTGCTCCA c.(4231-4254)ggg>gg p.GGLRQVLQ1411del WBP7_ENST00000420124.1_In_Frame_Del_p.GGLRQVLQ1411del|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG 0.724 17 86 --- --- --- --- DLGAP4 22839 broad.mit.edu 37 20 35075135 35075135 + Frame_Shift_Del DEL G G - rs112014857 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chr20:35075135delG ENST00000373913.3 + 7 1923 c.1443delG c.(1441-1443)gcfs p.A482fs DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.A482fs Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 482 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGTATGAGGCGGCCTGCGAGT 0.632 11 26 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920172 76920173 + Frame_Shift_Ins INS - - T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 3ca6c16c-0424-4e47-82d0-9e25e253944b g.chrX:76920172_76920173insT ENST00000373344.5 - 11 4118_4119 c.3904_3905insA c.(3904-3906)aacfs p.N1302fs ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTTCCAGTTCTTTTTTTCCCT 0.376 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 118 --- --- --- ---