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 RFWD3 55159 broad.mit.edu 37 16 74670451 74670451 + Nonsense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:74670451G>A ENST00000361070.4 - 8 1316 c.1219C>T c.(1219-1221)Caa>Taa p.Q407* RFWD3_ENST00000571750.1_Nonsense_Mutation_p.Q407* NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 407 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TTCTGACTTTGATGTGACGTA 0.408000 4 23 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93470558 93470558 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:93470558G>A ENST00000394196.4 + 4 1447 c.379G>A c.(379-381)Gag>Aag p.E127K CHD2_ENST00000420239.2_Missense_Mutation_p.E127K|CHD2_ENST00000557381.1_Missense_Mutation_p.E127K|CHD2_ENST00000536619.1_Missense_Mutation_p.E140K NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 127 Ser-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TATTAAGGAAGAGGTAAGGAA 0.368000 3 21 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228438 204228438 + Missense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:204228438G>T ENST00000272203.3 - 8 1271 c.955C>A c.(955-957)Cag>Aag p.Q319K PLEKHA6_ENST00000414478.1_Missense_Mutation_p.Q339K NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 319 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) ACCCACTGCTGAAGCTGGTTC 0.622000 17 57 7.07596e-05 7.42741e-05 1 1 0 RB1 5925 broad.mit.edu 37 13 49039501 49039501 + Nonsense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr13:49039501C>G ENST00000267163.4 + 23 2624 c.2486C>G c.(2485-2487)tCa>tGa p.S829* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 829 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.S829*(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACTCCAAGATCAAGGTGTGTG 0.368000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 14 38 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891631 44891631 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:44891631G>C ENST00000330997.4 - 4 840 c.776C>G c.(775-777)tCt>tGt p.S259C CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S266C|ZNF285_ENST00000544719.2_Missense_Mutation_p.S259C NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 ACATTTATAAGATTTTTCTCC 0.418000 22 87 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79387374 79387374 + Nonsense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:79387374G>C ENST00000370742.3 - 9 1244 c.1181C>G c.(1180-1182)tCa>tGa p.S394* NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 394 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GGTCTCATTTGAGTATGTCAG 0.438000 5 81 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105937235 105937235 + Translation_Start_Site SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chrX:105937235G>A ENST00000324342.3 + 1 168 c.3G>A c.(1-3)atG>atA p.M1I NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 0 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 AATGAGCAATGAACCAGGAGA 0.353000 6 15 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52659999 52659999 + Nonsense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:52659999G>A ENST00000322146.8 - 5 1458 c.937C>T c.(937-939)Caa>Taa p.Q313* ZNF836_ENST00000597252.1_Nonsense_Mutation_p.Q313*|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTATAACTTTGACTAAAGGAC 0.398000 6 52 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4788879 4788879 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:4788879G>A ENST00000355280.6 + 7 806 c.610G>A c.(610-612)Gag>Aag p.E204K MINK1_ENST00000453408.3_Missense_Mutation_p.E204K|MINK1_ENST00000347992.7_Missense_Mutation_p.E204K NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 204 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CGCCTGTGATGAGAACCCTGA 0.582000 13 38 0 0 1 0 0 LY86-AS1 285780 broad.mit.edu 37 6 6347533 6347533 + RNA SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:6347533G>A ENST00000429345.1 - 0 1105 NR_026970.1 ACCTTGATGTGATTCAGCAGG 0.537000 3 7 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285339 152285339 + Missense_Mutation SNP C C G rs140188504 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:152285339C>G ENST00000368799.1 - 3 2058 c.2023G>C c.(2023-2025)Gac>Cac p.D675H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 675 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAGCTGTCTGCAGAGTGC 0.527000 Ichthyosis 96 320 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905037 55905037 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:55905037G>C ENST00000301529.1 - 1 157 c.158C>G c.(157-159)tCt>tGt p.S53C NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTGAAGTCGAGAGTCAACACT 0.473000 9 96 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7572193 7572193 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:7572193G>C ENST00000379802.3 + 15 2363 c.2022G>C c.(2020-2022)aaG>aaC p.K674N DSP_ENST00000418664.2_Missense_Mutation_p.K674N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 674 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCTGCAGAAGATTCGCAGGC 0.453000 14 54 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142141571 142141571 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:142141571C>T ENST00000264951.4 - 8 937 c.820G>A c.(820-822)Gat>Aat p.D274N XRN1_ENST00000544157.1_Missense_Mutation_p.D64N|XRN1_ENST00000463916.1_Missense_Mutation_p.D274N|XRN1_ENST00000392981.2_Missense_Mutation_p.D274N NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 274 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CTTTCAATATCATATTTAAAT 0.308000 9 59 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57736040 57736040 + Nonsense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:57736040G>T ENST00000360716.3 + 6 918 c.697G>T c.(697-699)Gag>Tag p.E233* CCDC135_ENST00000394337.4_Nonsense_Mutation_p.E233*|CCDC135_ENST00000336825.8_Intron Q8IY82 CC135_HUMAN coiled-coil domain containing 135 233 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GAAGCCCAAGGAGGTATGGTC 0.602000 5 25 8.12818e-05 8.50374e-05 1 1 0 OR2T10 127069 broad.mit.edu 37 1 248756566 248756566 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:248756566G>A ENST00000330500.2 - 1 534 c.504C>T c.(502-504)ttC>ttT p.F168F NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGATCTGCAGAAGGGGAAGC 0.502000 26 56 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22782762 22782762 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr21:22782762G>A ENST00000400546.1 + 10 1613 c.1364G>A c.(1363-1365)gGa>gAa p.G455E NCAM2_ENST00000284894.7_Missense_Mutation_p.G313E NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 455 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TATAGTACAGGAAGAAAGATG 0.294000 6 55 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4389823 4389823 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:4389823G>C ENST00000355530.2 + 11 1675 c.1395G>C c.(1393-1395)ctG>ctC p.L465L SPNS3_ENST00000333476.2_Silent_p.L338L NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 465 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GCTGCTTCCTGCTGACTGCGC 0.677000 4 44 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 32 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239616 31239616 + Missense_Mutation SNP C C A rs150810080 byFrequency TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:31239616C>A ENST00000383329.3 - 2 117 c.103G>T c.(103-105)Gcc>Tcc p.A35S HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 35 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGGGACACGGCGGTGTCGAAA 0.721000 3 20 1 1 1 1 0 C9orf156 51531 broad.mit.edu 37 9 100667059 100667059 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:100667059G>A ENST00000375119.3 - 5 1358 c.1282C>T c.(1282-1284)Cat>Tat p.H428Y NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 428 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) CCAGTCATATGAACAGGCTCA 0.502000 14 60 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135757558 135757558 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:135757558C>T ENST00000375845.3 - 4 293 c.263G>A c.(262-264)aGa>aAa p.R88K MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R88K|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R105K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R88K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R88K|MAP3K19_ENST00000358371.4_Intron NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 mitogen-activated protein kinase kinase kinase 19 ACTGACATCTCTTGGAAAAGT 0.373000 5 68 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9426371 9426371 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:9426371G>A ENST00000345094.3 + 10 1857 c.1523G>A c.(1522-1524)tGa>tAa p.*508* THUMPD3_ENST00000452837.2_Silent_p.*508*|THUMPD3_ENST00000515662.2_Silent_p.*508*|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 0 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TGCAAAGAATGAAGATGACTA 0.398000 19 75 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65188509 65188509 + Splice_Site SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:65188509G>A ENST00000381210.3 - 4 443 c.333C>T c.(331-333)ggC>ggT p.G111G TECRL_ENST00000507440.1_Splice_Site_p.G111G NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 111 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AAAAAGGCCCGCCtaaaataa 0.318000 11 63 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62286724 62286724 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:62286724G>C ENST00000378024.4 - 5 15439 c.15165C>G c.(15163-15165)ctC>ctG p.L5055L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5055 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCGGAGCCTTGAGGCTGGCAT 0.443000 34 235 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49339822 49339822 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:49339822C>A ENST00000351842.4 - 9 1149 c.1141G>T c.(1141-1143)Gat>Tat p.D381Y USP4_ENST00000265560.4_Missense_Mutation_p.D428Y|USP4_ENST00000488520.1_5'UTR NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 428 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CATACCGCATCTGGCCGCCCA 0.468000 17 83 1.99824e-07 2.15456e-07 1 1 0 CEP350 9857 broad.mit.edu 37 1 180063698 180063698 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:180063698G>A ENST00000367607.3 + 34 8876 c.8458G>A c.(8458-8460)Gaa>Aaa p.E2820K CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2820 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CTTAAGTTCTGAATTGGAAGA 0.403000 5 33 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315528 73315528 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:73315528C>G ENST00000258098.6 - 3 1458 c.1218G>C c.(1216-1218)ctG>ctC p.L406L RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 406 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding p.L406L(1) biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCTGAGCACTCAGCTCCTCCT 0.657000 12 61 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51465271 51465271 + Silent SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:51465271G>T ENST00000374095.5 - 7 1310 c.1185C>A c.(1183-1185)ggC>ggA p.G395G NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 395 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 GCCACGTTTGGCCAGTGGCAG 0.532000 12 75 6.40141e-05 6.74169e-05 1 1 0 HSPA1A 3303 broad.mit.edu 37 6 31785264 31785264 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:31785264C>T ENST00000375651.5 + 1 1974 c.1731C>T c.(1729-1731)gtC>gtT p.V577V HSPA1A_ENST00000608703.1_Silent_p.V412V|HSPA1A_ENST00000458062.2_Silent_p.V486V NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 577 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 GTCAAGAGGTCATCTCGTGGC 0.572000 9 33 0 0 1 0 0 VAMP2 6844 broad.mit.edu 37 17 8064983 8064983 + Silent SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:8064983G>T ENST00000316509.6 - 3 320 c.225C>A c.(223-225)tcC>tcA p.S75S VAMP2_ENST00000488857.1_Silent_p.S77S|VAMP2_ENST00000481878.1_Silent_p.S75S|RP11-599B13.6_ENST00000498285.1_Silent_p.S75S|VAMP2_ENST00000404970.3_Silent_p.S30S NM_014232.2 NP_055047.2 P63027 VAMP2_HUMAN vesicle-associated membrane protein 2 (synaptobrevin 2) 75 v-SNARE coiled-coil homology. energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome Botulinum Toxin Type B(DB00042) TTTCAAACTGGGAGGCCCCCG 0.582000 21 48 7.41877e-09 8.10949e-09 1 1 0 UGT1A1 54658 broad.mit.edu 37 2 234526524 234526524 + Silent SNP A A T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:234526524A>T ENST00000373450.4 + 1 234 c.171A>T c.(169-171)gtA>gtT p.V57V NM_019076.4 NP_061949.3 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AGGTGGTTGTAGTCATGCCAG 0.522000 5 73 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9463660 9463660 + Missense_Mutation SNP G G T rs145780187 byFrequency TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:9463660G>T ENST00000379719.3 + 24 3077 c.2935G>T c.(2935-2937)Gca>Tca p.A979S NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 979 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GTGGTATCAGGCACTGACTCA 0.388000 5 59 1 1 1 1 0 SPTBN4 57731 broad.mit.edu 37 19 41038642 41038642 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:41038642G>A ENST00000352632.3 + 19 4145 c.4059G>A c.(4057-4059)ctG>ctA p.L1353L SPTBN4_ENST00000598249.1_Silent_p.L1353L|SPTBN4_ENST00000595535.1_Silent_p.L1353L|SPTBN4_ENST00000392025.1_Silent_p.L96L|SPTBN4_ENST00000392023.1_Silent_p.L29L|SPTBN4_ENST00000338932.3_Silent_p.L1353L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1353 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGCCGAGCTGGCTCAGAATA 0.617000 6 24 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45595791 45595791 + Silent SNP G G A rs150877720 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:45595791G>A ENST00000336156.5 - 8 1043 c.978C>T c.(976-978)aaC>aaT p.N326N KIAA0930_ENST00000443310.3_Silent_p.N308N|KIAA0930_ENST00000391627.2_Silent_p.N292N|KIAA0930_ENST00000251993.7_Silent_p.N331N|KIAA0930_ENST00000474515.1_5'UTR NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 protein binding p.N331N(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CCTCGCTGTCGTTGGCCGAGT 0.627000 18 42 0 0 1 0 0 LOC728715 728715 broad.mit.edu 37 12 9711779 9711779 + RNA SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:9711779C>G ENST00000520314.1 + 0 360 AGGGGATATTCTAGGACTTGC 0.403000 5 13 0 0 1 0 0 CCNH 902 broad.mit.edu 37 5 86690883 86690883 + Nonsense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:86690883G>C ENST00000508855.1 - 7 741 c.689C>G c.(688-690)tCa>tGa p.S230* CCNH_ENST00000256897.4_Nonsense_Mutation_p.S304*|CCNH_ENST00000504878.1_Nonsense_Mutation_p.S230* P51946 CCNH_HUMAN cyclin H 304 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) GGATTTCTTTGAGACGTAATC 0.318000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 8 106 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87173537 87173537 + Nonsense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:87173537C>A ENST00000265724.3 - 18 2536 c.2119G>T c.(2119-2121)Gaa>Taa p.E707* ABCB1_ENST00000543898.1_Nonsense_Mutation_p.E643* NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 707 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TAAGGCCATTCAGTTAAATTT 0.323000 12 100 4.3838e-07 4.69481e-07 1 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51918853 51918853 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:51918853C>T ENST00000353836.5 - 6 1262 c.1041G>A c.(1039-1041)ctG>ctA p.L347L SIGLEC10_ENST00000442846.3_Silent_p.L199L|SIGLEC10_ENST00000525998.1_Silent_p.L257L|SIGLEC10_ENST00000439889.2_Silent_p.L289L|SIGLEC10_ENST00000441969.3_Silent_p.L289L|SIGLEC10_ENST00000436984.2_Silent_p.L299L|SIGLEC10_ENST00000356298.5_Silent_p.L347L|SIGLEC10_ENST00000432469.2_Silent_p.L264L|SIGLEC10_ENST00000339313.5_Silent_p.L347L NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 347 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CCATCACTCTCAGGTTCTCTG 0.592000 7 152 0 0 1 0 0 FANCC 2176 broad.mit.edu 37 9 97912337 97912337 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:97912337C>T ENST00000289081.3 - 7 808 c.554G>A c.(553-555)cGa>cAa p.R185Q FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 185 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) GACACAAACTCGTGACAGGGA 0.473000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 24 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58422964 58422964 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:58422964C>A ENST00000300896.4 - 2 258 c.64G>T c.(64-66)Gat>Tat p.D22Y USP32_ENST00000393003.3_Missense_Mutation_p.D22Y NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 22 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AGCTCTACATCTGTAACTGCA 0.438000 11 114 0.000151284 0.000157754 1 1 0 NID1 4811 broad.mit.edu 37 1 236180546 236180546 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:236180546G>A ENST00000264187.6 - 10 2238 c.2156C>T c.(2155-2157)tCa>tTa p.S719L NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 719 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCCACACACTGAGGGTTGTTC 0.413000 25 79 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105419 168105419 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:168105419G>A ENST00000409195.1 + 9 7606 c.7517G>A c.(7516-7518)gGa>gAa p.G2506E XIRP2_ENST00000295237.9_Missense_Mutation_p.G2506E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2284E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2331 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAGTTCCAGGAACTTCAGCA 0.378000 7 62 0 0 1 0 0 PEX19 5824 broad.mit.edu 37 1 160249910 160249910 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:160249910C>T ENST00000368072.5 - 6 742 c.721G>A c.(721-723)Gaa>Aaa p.E241K PEX19_ENST00000440949.3_Missense_Mutation_p.E151K|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.E94K|DCAF8_ENST00000556710.1_Missense_Mutation_p.E94K NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGTGGTTTCACTGTCTGTG 0.498000 24 458 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72151732 72151732 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:72151732C>T ENST00000337273.5 + 4 763 c.337C>T c.(337-339)Ctg>Ttg p.L113L TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000506351.2_Silent_p.L105L|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000447967.2_Silent_p.L105L|TNPO1_ENST00000523768.1_Intron NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 113 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CTCCTCTCCTCTGATTAGAGC 0.328000 4 31 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60802301 60802301 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:60802301G>A ENST00000544856.2 - 8 2477 c.2099C>T c.(2098-2100)tCa>tTa p.S700L RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S701L|MARCH10_ENST00000583600.1_Missense_Mutation_p.S739L|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S701L|RP11-156L14.1_ENST00000579201.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 701 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CCACCTACCTGATGTTATTTT 0.542000 14 220 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66251937 66251937 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:66251937C>T ENST00000359904.3 + 6 1979 c.847C>T c.(847-849)Cgg>Tgg p.R283W AMZ2_ENST00000577985.1_Missense_Mutation_p.R283W|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.R283W|AMZ2_ENST00000577866.1_Missense_Mutation_p.R283W|AMZ2_ENST00000392720.2_Missense_Mutation_p.R283W|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.R225W NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 283 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) AGAAGCTGACCGGCGCCCTCT 0.507000 11 74 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832396 42832396 + Splice_Site SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:42832396G>A ENST00000314073.5 + 13 2628 c.e13-1 GLTSCR1L_ENST00000394168.1_Splice_Site GLTSCR1-like CCCATTTCCAGAGGGTTTTCA 0.483000 10 35 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53576752 53576752 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:53576752C>A ENST00000355147.5 - 7 690 c.282G>T c.(280-282)agG>agT p.R94S ZNF160_ENST00000418871.1_Intron|ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000601421.1_Intron Q9HCG1 ZN160_HUMAN zinc finger protein 160 0 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) GTTTCCATCTCCTGAGCAGGT 0.557000 6 22 0.00116845 0.00120651 1 1 0 ABHD12 26090 broad.mit.edu 37 20 25282958 25282958 + Nonsense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:25282958G>A ENST00000339157.5 - 12 1326 c.1054C>T c.(1054-1056)Cga>Tga p.R352* ABHD12_ENST00000376542.3_Nonsense_Mutation_p.R352* NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 352 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 CGGAAGCTTCGAGCTGGTGCG 0.557000 13 52 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234445046 234445046 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:234445046G>A ENST00000366618.3 + 4 953 c.808G>A c.(808-810)Gac>Aac p.D270N SLC35F3_ENST00000366617.3_Missense_Mutation_p.D201N NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 201 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CGTTCTCAGGGACAGATTCAT 0.448000 5 78 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53663020 53663020 + Missense_Mutation SNP A A C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:53663020A>C ENST00000257934.4 + 3 385 c.294A>C c.(292-294)gaA>gaC p.E98D ESPL1_ENST00000552462.1_Missense_Mutation_p.E98D NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 98 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TCTACCTGGAACGAATTCTCT 0.592000 17 62 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52619320 52619320 + Nonsense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:52619320G>C ENST00000600228.1 - 4 1358 c.1097C>G c.(1096-1098)tCa>tGa p.S366* ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TACAAGATTTGATCTATGTCT 0.408000 16 159 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78262066 78262066 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:78262066C>T ENST00000582970.1 + 4 857 c.714C>T c.(712-714)gcC>gcT p.A238A RNF213_ENST00000319921.4_Silent_p.A238A|RNF213_ENST00000456466.1_Silent_p.A238A|RNF213_ENST00000508628.2_Silent_p.A287A NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 238 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AAGATGCTGCCCAGGAGCTCC 0.632000 7 51 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640578 3640578 + Missense_Mutation SNP G G A rs138344471 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:3640578G>A ENST00000294008.3 - 12 3701 c.3061C>T c.(3061-3063)Cgc>Tgc p.R1021C NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1021 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GGAGCCAGGCGATGAGAAACC 0.622000 Direct reversal of damage 5 51 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43527103 43527103 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:43527103G>C ENST00000220420.5 - 11 1746 c.1739C>G c.(1738-1740)tCc>tGc p.S580C TGM5_ENST00000349114.4_Missense_Mutation_p.S498C NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 580 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CTGGGAATAGGAGATTTTGCA 0.498000 16 36 0 0 1 0 0 KDSR 2531 broad.mit.edu 37 18 61030057 61030057 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr18:61030057C>T ENST00000406396.3 - 2 544 c.153G>A c.(151-153)gaG>gaA p.E51E KDSR_ENST00000326575.5_Silent_p.E51E NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase 51 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 GTTTATAGCACTCGATAGCAA 0.393000 9 39 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52896986 52896986 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:52896986G>C ENST00000371544.3 - 28 4669 c.4407C>G c.(4405-4407)gtC>gtG p.V1469V ZCCHC11_ENST00000257177.4_Silent_p.V1470V NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1469 Gln-rich.|Pro-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTGGCATCTGGACCTGATGGG 0.547000 27 65 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436256 158436256 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:158436256G>A ENST00000289451.2 + 1 985 c.905G>A c.(904-906)cGa>cAa p.R302Q NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TCAGCCCTACGAAGAACAATC 0.373000 38 112 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179853832 179853832 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:179853832G>A ENST00000606911.2 + 2 672 c.481G>A c.(481-483)Gaa>Aaa p.E161K TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E161K|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E161K|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.E40K Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 TTTAGAGGATGAAGCATCTTC 0.343000 7 50 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083671 17083671 + RNA SNP C C G rs1057420 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:17083671C>G ENST00000455405.2 - 0 917 aagtcttGTCCTTGACTGTAC 0.403000 5 28 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756794 248756794 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:248756794G>A ENST00000330500.2 - 1 306 c.276C>T c.(274-276)atC>atT p.I92I NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAAGGACCGAGATGGTCTTGT 0.502000 8 21 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604668 108604668 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:108604668G>A ENST00000264047.2 + 2 333 c.57G>A c.(55-57)ttG>ttA p.L19L SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Silent_p.L19L NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 19 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTCTAATTTTGCTGGTTGGAA 0.453000 5 62 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38775501 38775501 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:38775501C>T ENST00000308973.4 - 4 2316 c.1711G>A c.(1711-1713)Gaa>Aaa p.E571K TLR10_ENST00000508334.1_Missense_Mutation_p.E571K|TLR10_ENST00000506111.1_Missense_Mutation_p.E571K|TLR10_ENST00000361424.2_Missense_Mutation_p.E571K NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 571 LRRCT. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 CAAGATAATTCGTGGAGATGA 0.438000 13 84 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760739 20760739 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:20760739C>G ENST00000400451.2 + 5 1930 c.1416C>G c.(1414-1416)ttC>ttG p.F472L ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.F440L|ZNF74_ENST00000356671.5_Missense_Mutation_p.F472L NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 472 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGAAGCCCTTCAAGTGCAACG 0.647000 17 51 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844362 128844362 + Silent SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:128844362T>C ENST00000310343.9 - 20 2687 c.2688A>G c.(2686-2688)ggA>ggG p.G896G ARHGAP32_ENST00000527272.1_Silent_p.G547G|ARHGAP32_ENST00000524655.1_Silent_p.G822G|ARHGAP32_ENST00000392657.3_Silent_p.G547G NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 896 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TTAATTTCCGTCCTATCTTCG 0.438000 16 70 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67687761 67687761 + Missense_Mutation SNP G G A rs141459541 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:67687761G>A ENST00000335894.4 + 13 1831 c.1765G>A c.(1765-1767)Gat>Aat p.D589N IQCH_ENST00000360277.4_Intron|IQCH_ENST00000546225.1_Intron|IQCH_ENST00000358767.3_Intron NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 589 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) AGCTGTGGCCGATATGTTAGA 0.478000 15 91 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643687 37643687 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:37643687G>A ENST00000356958.4 - 5 1372 c.1114C>T c.(1114-1116)Cat>Tat p.H372Y ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H317Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H317Y|ZNF585A_ENST00000355533.2_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCTCTGATGAATAATCAAC 0.418000 14 95 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62288125 62288125 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:62288125G>A ENST00000378024.4 - 5 14038 c.13764C>T c.(13762-13764)ctC>ctT p.L4588L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4588 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCGGTGCCTTGAGGTGTAAGT 0.483000 17 130 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293759 29293759 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:29293759G>C ENST00000331664.5 - 1 3368 c.3369C>G c.(3367-3369)ttC>ttG p.F1123L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1123 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TAGCTGGGCAGAATATGGAAT 0.567000 6 51 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6606938 6606938 + Silent SNP A A C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:6606938A>C ENST00000264670.6 - 14 1907 c.1596T>G c.(1594-1596)ccT>ccG p.P532P NSUN2_ENST00000506139.1_Silent_p.P497P|NSUN2_ENST00000539938.1_Silent_p.P296P NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 532 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CTTACTCAATAGGTGGAAATA 0.294000 4 70 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47238477 47238477 + Missense_Mutation SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:47238477A>G ENST00000319190.5 + 11 1663 c.1295A>G c.(1294-1296)tAc>tGc p.Y432C TTC7A_ENST00000409245.1_Missense_Mutation_p.Y398C|TTC7A_ENST00000394850.2_Missense_Mutation_p.Y432C|TTC7A_ENST00000263737.6_Missense_Mutation_p.Y78C|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 432 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CAGTCAGCCTACGCTGTGTCC 0.612000 3 25 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28626700 28626700 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr13:28626700C>G ENST00000380982.4 - 5 677 c.596G>C c.(595-597)tGc>tCc p.C199S FLT3_ENST00000537084.1_Missense_Mutation_p.C199S|FLT3_ENST00000241453.7_Missense_Mutation_p.C199S P36888 FLT3_HUMAN fms-related tyrosine kinase 3 199 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTGTGAATCGCAAAGCACCCA 0.433000 """Mis, O""" """AML, ALL""" 8 45 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156180113 156180113 + Missense_Mutation SNP C C T rs140016645 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:156180113C>T ENST00000359511.4 + 4 1008 c.836C>T c.(835-837)tCg>tTg p.S279L SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.S256L NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 279 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) AAGGGCCTCTCGGCCAGAATC 0.547000 13 41 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29786162 29786162 + Missense_Mutation SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:29786162A>G ENST00000256062.5 - 6 1195 c.722T>C c.(721-723)aTa>aCa p.I241T TMTC1_ENST00000381224.2_Missense_Mutation_p.I303T|TMTC1_ENST00000551659.1_Missense_Mutation_p.I411T|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.I349T|TMTC1_ENST00000552618.1_Missense_Mutation_p.I411T NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 349 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CATGTCCCATATGGTCTCTAC 0.498000 14 50 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95113641 95113641 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:95113641G>C ENST00000371501.4 - 32 3530 c.3408C>G c.(3406-3408)gtC>gtG p.V1136V MYOF_ENST00000371502.4_Silent_p.V1136V|MYOF_ENST00000359263.4_Silent_p.V1136V|MYOF_ENST00000358334.5_Silent_p.V1123V Q9NZM1 MYOF_HUMAN myoferlin 1136 C2 4. V -> I (in dbSNP:rs36032890). V -> D (in Ref. 7; CAB46370). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GGTAGATGTAGACTCCTAAAA 0.338000 12 92 0 0 1 0 0 AEBP2 121536 broad.mit.edu 37 12 19667670 19667670 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:19667670C>T ENST00000266508.9 + 7 1434 c.1433C>T c.(1432-1434)tCa>tTa p.S478L AEBP2_ENST00000398864.3_Missense_Mutation_p.S478L|AEBP2_ENST00000541908.1_Missense_Mutation_p.S249L|AEBP2_ENST00000360995.4_Missense_Mutation_p.S262L NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 478 Interaction with SUZ12. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) GTTCATTTATCAAAGCTACCC 0.313000 3 27 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557423 36557423 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:36557423G>A ENST00000373178.4 + 3 543 c.513G>A c.(511-513)caG>caA p.Q171Q NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 171 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) AGGATGTGCAGAAGGTATTCA 0.612000 4 28 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161019033 161019033 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:161019033G>A ENST00000368013.3 - 12 2098 c.1778C>T c.(1777-1779)tCc>tTc p.S593F ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S593F|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S416F NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 593 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGGGCCAGCGGAGTCCAGGGA 0.572000 12 213 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153581396 153581396 + Nonsense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chrX:153581396C>A ENST00000422373.1 - 37 6423 c.6175G>T c.(6175-6177)Gag>Tag p.E2059* FLNA_ENST00000360319.4_Nonsense_Mutation_p.E2059*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.E2027*|FLNA_ENST00000369856.3_Nonsense_Mutation_p.E200*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.E2067* NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2067 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGATAAACTCTGCAGGCTCA 0.612000 11 9 6.40141e-05 6.74169e-05 1 1 0 OR52N2 390077 broad.mit.edu 37 11 5841972 5841972 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:5841972C>T ENST00000317037.2 + 1 429 c.407C>T c.(406-408)aCc>aTc p.T136I TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCTATGCCACCATCCTTACC 0.547000 15 36 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1261063 1261063 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:1261063C>A ENST00000447027.1 + 28 3685 c.3627C>A c.(3625-3627)ttC>ttA p.F1209L MUC5B_ENST00000529681.1_Missense_Mutation_p.F1206L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1206 Cys-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCAGCCCTTCTTCAATGAGG 0.607000 7 11 0.00198382 0.00202861 1 1 0 PPP1R36 145376 broad.mit.edu 37 14 65056036 65056036 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:65056036C>A ENST00000298705.1 + 12 1345 c.1249C>A c.(1249-1251)Cat>Aat p.H417N RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 417 ACTGTCCTCTCATACATCATG 0.343000 15 90 5.03518e-11 5.56151e-11 1 1 0 C2orf16 84226 broad.mit.edu 37 2 27800241 27800241 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:27800241G>A ENST00000408964.2 + 1 853 c.802G>A c.(802-804)Gaa>Aaa p.E268K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 268 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GATTACTCCGGAACTCAAGCA 0.463000 27 61 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3319328 3319328 + Missense_Mutation SNP T T G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:3319328T>G ENST00000336727.3 + 2 2335 c.1431T>G c.(1429-1431)tgT>tgG p.C477W RGS12_ENST00000543385.1_Missense_Mutation_p.C477W|RGS12_ENST00000344733.5_Missense_Mutation_p.C477W|RGS12_ENST00000382788.3_Missense_Mutation_p.C477W NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 477 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCCCTTCTGTCCGGACCCCG 0.682000 12 75 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 647068 647068 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:647068G>A ENST00000406797.1 - 5 636 c.462C>T c.(460-462)ttC>ttT p.F154F PRKAR1B_ENST00000544935.1_Silent_p.F154F|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000403562.1_Silent_p.F154F|PRKAR1B_ENST00000360274.4_Silent_p.F154F|PRKAR1B_ENST00000537384.1_Silent_p.F154F NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 154 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) GAGTGACAGGGAACATGGCAT 0.498000 6 76 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43022020 43022020 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:43022020C>G ENST00000428554.2 + 12 1762 c.619C>G c.(619-621)Cag>Gag p.Q207E CCDC30_ENST00000340612.4_Missense_Mutation_p.Q207E|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.Q207E Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 207 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 CCATATAAATCAGAGCCTTCT 0.453000 9 43 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177041056 177041056 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:177041056G>A ENST00000393643.2 + 4 598 c.346G>A c.(346-348)Gat>Aat p.D116N WDR17_ENST00000508596.1_Missense_Mutation_p.D116N|WDR17_ENST00000280190.4_Missense_Mutation_p.D140N|WDR17_ENST00000507824.2_Missense_Mutation_p.D140N NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 140 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GAATGCAGAGGATGTGGTGGC 0.408000 10 93 0 0 1 0 0 FCER1G 2207 broad.mit.edu 37 1 161187860 161187860 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:161187860G>A ENST00000289902.1 + 2 159 c.134G>A c.(133-135)cGa>cAa p.R45Q FCER1G_ENST00000367992.3_Missense_Mutation_p.R45Q|FCER1G_ENST00000490414.1_Intron NM_004106.1 NP_004097.1 P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide 45 platelet activation integral to plasma membrane endometrium(1)|lung(5) 6 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) CTCTACTGTCGACTGAAGGTA 0.567000 12 205 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52091120 52091120 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:52091120C>T ENST00000262259.2 + 5 1894 c.1536C>T c.(1534-1536)ttC>ttT p.F512F ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 512 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GAAAAACCTTCACCCAAAAGT 0.413000 10 33 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32666516 32666516 + Silent SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:32666516A>G ENST00000421745.2 + 17 4064 c.3930A>G c.(3928-3930)tcA>tcG p.S1310S NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1310 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGAAAACCTCAATTTCTAAGG 0.358000 14 33 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40468811 40468811 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:40468811C>T ENST00000287598.6 + 5 713 c.518C>T c.(517-519)gCg>gTg p.A173V BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.A187V NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 173 BUB1 N-terminal.|Necessary for interaction with CASC5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) AAAGCAGATGCGATATTTCAG 0.408000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 8 72 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540357 96540357 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:96540357C>G ENST00000371321.3 + 4 665 c.583C>G c.(583-585)Ctt>Gtt p.L195V CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 195 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCAGCAATTTCTTAACTTGAT 0.418000 22 157 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56606717 56606717 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr18:56606717C>G ENST00000336078.4 + 6 3345 c.2569C>G c.(2569-2571)Ctg>Gtg p.L857V ZNF532_ENST00000591083.1_Missense_Mutation_p.L857V|ZNF532_ENST00000591230.1_Missense_Mutation_p.L857V|ZNF532_ENST00000589288.1_Missense_Mutation_p.L857V|ZNF532_ENST00000591808.1_Missense_Mutation_p.L857V NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 857 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 TGTGGCTGCTCTGAAGTCTCA 0.438000 15 91 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114792882 114792882 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr13:114792882C>T ENST00000334062.7 - 7 707 c.586G>A c.(586-588)Gaa>Aaa p.E196K RASA3_ENST00000389544.4_Missense_Mutation_p.E164K|RASA3_ENST00000542651.1_3'UTR NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 196 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TAAAACACTTCATCGAACTGG 0.428000 8 76 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134363319 134363319 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:134363319C>A ENST00000357304.4 + 27 6116 c.6061C>A c.(6061-6063)Cca>Aca p.P2021T PRRC2B_ENST00000405995.1_Missense_Mutation_p.P1327T|PRRC2B_ENST00000372249.1_Missense_Mutation_p.P118T|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P1327T NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2021 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTTGAAGCCTCCATACTCGGC 0.607000 7 29 2.0095e-06 2.14482e-06 1 1 0 RPS8 6202 broad.mit.edu 37 1 45243706 45243706 + Missense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:45243706G>T ENST00000396651.3 + 5 582 c.422G>T c.(421-423)cGa>cTa p.R141L RPS8_ENST00000372209.3_Missense_Mutation_p.R121L|RPS8_ENST00000485390.1_3'UTR P62241 RS8_HUMAN ribosomal protein S8 141 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 10 Acute lymphoblastic leukemia(166;0.155) AACAAAAAACGATCTAAAAAA 0.433000 18 23 3.32936e-07 3.57765e-07 1 1 0 PPM1B 5495 broad.mit.edu 37 2 44457786 44457786 + Nonsense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:44457786G>T ENST00000282412.4 + 6 1781 c.1369G>T c.(1369-1371)Gaa>Taa p.E457* PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000345249.4_Nonsense_Mutation_p.E170* NM_002706.4 NP_002697.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 457 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TACTGAATCAGAAAGTGGTCT 0.428000 6 74 0.00307968 0.00312903 1 1 0 APOA2 336 broad.mit.edu 37 1 161192749 161192749 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:161192749C>G ENST00000464492.1 - 3 281 c.243G>C c.(241-243)ctG>ctC p.L81L APOA2_ENST00000367990.3_Silent_p.L48L|APOA2_ENST00000463812.1_5'UTR|APOA2_ENST00000470459.2_Silent_p.L48L|APOA2_ENST00000491350.1_Intron|APOA2_ENST00000468465.1_5'UTR P02652 APOA2_HUMAN apolipoprotein A-II cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCTTCTCCATCAGGTCCTTGC 0.557000 7 198 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158494578 158494578 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:158494578C>G ENST00000409339.3 - 2 126 c.13G>C c.(13-15)Gag>Cag p.E5Q NCAPG2_ENST00000356309.3_Missense_Mutation_p.E5Q|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E5Q|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E5Q NM_001281933.1 NP_001268862.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 5 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ACAAACGTCTCACGTTTTTCC 0.353000 4 59 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243708880 243708880 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:243708880C>T ENST00000366539.1 - 12 1383 c.1183G>A c.(1183-1185)Gat>Aat p.D395N AKT3_ENST00000263826.5_Missense_Mutation_p.D395N|AKT3_ENST00000366540.1_Missense_Mutation_p.D395N|RP11-269F20.1_ENST00000439849.1_RNA|AKT3_ENST00000336199.5_Missense_Mutation_p.D395N Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 395 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TCTTTTGCATCATCTGGTCCT 0.303000 11 70 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3817738 3817738 + Nonsense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:3817738G>T ENST00000262367.5 - 16 4042 c.3233C>A c.(3232-3234)tCg>tAg p.S1078* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1040* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1078 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCGCGGCTGCGAAGGAGATGT 0.423000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 26 74 1.2476e-16 1.38283e-16 1 1 0 SETD2 29072 broad.mit.edu 37 3 47142964 47142964 + Nonsense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:47142964G>A ENST00000409792.3 - 8 5041 c.4999C>T c.(4999-5001)Cag>Tag p.Q1667* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1667 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.Q1667*(1)|p.Q1164*(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTCTGGAACTGATAGTCAAAC 0.373000 """N, F, S, Mis""" clear cell renal carcinoma 37 108 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27799490 27799490 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:27799490G>C ENST00000408964.2 + 1 102 c.51G>C c.(49-51)ttG>ttC p.L17F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 17 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATCAAGAGTTGACTTCAGGAT 0.428000 14 32 0 0 1 0 0 OR51B4 79339 broad.mit.edu 37 11 5322367 5322367 + Silent SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:5322367G>T ENST00000380224.1 - 1 859 c.810C>A c.(808-810)ccC>ccA p.P270P HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATGGTAATGGGGACCACAT 0.418000 10 46 2.17888e-05 2.3178e-05 1 1 0 TLR10 81793 broad.mit.edu 37 4 38774934 38774934 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:38774934C>T ENST00000308973.4 - 4 2883 c.2278G>A c.(2278-2280)Gat>Aat p.D760N TLR10_ENST00000508334.1_Missense_Mutation_p.D760N|TLR10_ENST00000506111.1_Missense_Mutation_p.D760N|TLR10_ENST00000361424.2_Missense_Mutation_p.D760N NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 760 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTACGCCTATCCTTGGGCCAT 0.413000 22 53 0 0 1 0 0 UBE2M 9040 broad.mit.edu 37 19 59068511 59068511 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:59068511C>T ENST00000253023.3 - 2 701 c.123G>A c.(121-123)ctG>ctA p.L41L NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 41 Interaction with UBA3. protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGGGCAGGTTCAGCTCGTTTA 0.547000 16 71 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59329436 59329436 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr8:59329436G>A ENST00000399598.2 + 2 234 c.112G>A c.(112-114)Gaa>Aaa p.E38K UBXN2B_ENST00000522978.1_3'UTR NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 38 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GTATGAAGATGAAGTGAAGTG 0.378000 13 56 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284912 152284912 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:152284912C>G ENST00000368799.1 - 3 2485 c.2450G>C c.(2449-2451)aGa>aCa p.R817T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 817 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATCCTTGTCTTACTCCAGT 0.562000 Ichthyosis 44 164 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66048724 66048724 + Nonsense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:66048724G>C ENST00000443035.3 - 3 280 c.65C>G c.(64-66)tCa>tGa p.S22* DENND4A_ENST00000431932.2_Nonsense_Mutation_p.S22* NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TAGAGGCTTTGAAACATCAGT 0.353000 10 42 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13782564 13782564 + Missense_Mutation SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:13782564T>C ENST00000357447.2 - 10 930 c.562A>G c.(562-564)Att>Gtt p.I188V FRMD4A_ENST00000342409.2_Missense_Mutation_p.I204V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.I188V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.I173V|RP11-353M9.1_ENST00000449462.1_RNA NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 188 FERM. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TAGTGCTCAATGACTCTGTCT 0.458000 7 59 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160645759 160645759 + Missense_Mutation SNP C C T rs144834632 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:160645759C>T ENST00000366953.3 - 10 1837 c.1579G>A c.(1579-1581)Gag>Aag p.E527K SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 527 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TCGGCTTCCTCGATGGTCTCA 0.413000 9 107 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854398 12854398 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:12854398C>G ENST00000332296.7 + 3 725 c.622C>G c.(622-624)Caa>Gaa p.Q208E NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 208 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAATAGTATTCAAGAGCTGGA 0.398000 49 443 0 0 1 0 0 ALG2 85365 broad.mit.edu 37 9 101980878 101980878 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:101980878C>G ENST00000476832.1 - 2 650 c.589G>C c.(589-591)Gat>Cat p.D197H ALG2_ENST00000319033.6_Missense_Mutation_p.D104H NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 197 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) TAGAGGACATCAGGGTCTATG 0.468000 7 60 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157099133 157099133 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:157099133C>T ENST00000362010.2 - 7 1246 c.939G>A c.(937-939)gtG>gtA p.V313V VEPH1_ENST00000543418.1_Silent_p.V313V|VEPH1_ENST00000392832.2_Silent_p.V313V|VEPH1_ENST00000392833.2_Silent_p.V313V NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 313 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCAGTTGGCTCACCAGGTATG 0.468000 10 74 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936942 15936942 + Missense_Mutation SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:15936942T>C ENST00000504595.1 + 4 1604 c.1123T>C c.(1123-1125)Tgc>Cgc p.C375R FBXL7_ENST00000329673.7_Missense_Mutation_p.C363R|FBXL7_ENST00000510662.1_Missense_Mutation_p.C328R NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 375 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGCCAAGTACTGCAGCAAGCT 0.647000 13 23 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131929070 131929070 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:131929070C>G ENST00000403834.3 - 12 1410 c.1237G>C c.(1237-1239)Gaa>Caa p.E413Q MED23_ENST00000540546.1_Missense_Mutation_p.E413Q|MED23_ENST00000354577.4_Missense_Mutation_p.E413Q|MED23_ENST00000368068.3_Missense_Mutation_p.E407Q|MED23_ENST00000368058.1_Missense_Mutation_p.E413Q|MED23_ENST00000368060.3_Missense_Mutation_p.E407Q|MED23_ENST00000368053.4_Missense_Mutation_p.E413Q|MED23_ENST00000539158.1_Missense_Mutation_p.E407Q|MED23_ENST00000545957.1_Intron Q9ULK4 MED23_HUMAN mediator complex subunit 23 407 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AAGCTTACTTCTTTTTCTGGG 0.333000 7 44 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148925367 148925367 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:148925367G>C ENST00000264613.6 - 5 1081 c.819C>G c.(817-819)ctC>ctG p.L273L NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 273 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CACACATGGAGAGTCCTGGGA 0.433000 8 65 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79258893 79258893 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:79258893C>T ENST00000264895.6 + 20 2784 c.2344C>T c.(2344-2346)Cac>Tac p.H782Y FRAS1_ENST00000325942.6_Missense_Mutation_p.H782Y NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 782 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTGTTACCCTCACATCTCTCT 0.542000 11 77 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620543 14620543 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:14620543G>A ENST00000403951.2 - 19 1975 c.1556C>T c.(1555-1557)gCg>gTg p.A519V DGKB_ENST00000258767.5_Missense_Mutation_p.A519V|DGKB_ENST00000399322.3_Missense_Mutation_p.A519V|DGKB_ENST00000402815.1_Missense_Mutation_p.A518V|DGKB_ENST00000444700.2_Missense_Mutation_p.A500V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.A511V|DGKB_ENST00000406247.3_Missense_Mutation_p.A519V Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 519 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) AGGCAGAATCGCAACTGGAGG 0.408000 7 53 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120404546 120404546 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:120404546C>T ENST00000602047.1 + 23 2492 c.1380C>T c.(1378-1380)ttC>ttT p.F460F PCDP1_ENST00000413369.3_Silent_p.F746F Q4G0U5 PCDP1_HUMAN 746 cilium calmodulin binding Colorectal(110;0.196) GCGATTCCTTCAATTCATTTA 0.363000 4 67 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436236 158436236 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:158436236G>A ENST00000289451.2 + 1 965 c.885G>A c.(883-885)aaG>aaA p.K295K NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TGAGAAATAAGGAATTCAAAT 0.378000 46 130 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101924811 101924811 + Silent SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:101924811C>A ENST00000295317.3 - 1 347 c.240G>T c.(238-240)ccG>ccT p.P80P NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 80 PA. integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 CGGGCGCCCACGGGACGCCCA 0.761000 6 16 0.00116845 0.00120651 1 1 0 PC 5091 broad.mit.edu 37 11 66618639 66618639 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:66618639C>T ENST00000393960.1 - 17 2376 c.2095G>A c.(2095-2097)Gtg>Atg p.V699M PC_ENST00000393955.2_Missense_Mutation_p.V699M|PC_ENST00000393958.2_Missense_Mutation_p.V699M NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 699 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GCCTCCACCACGCCTCCGGCA 0.607000 17 56 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81097383 81097383 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:81097383C>G ENST00000378611.4 - 2 293 c.178G>C c.(178-180)Gag>Cag p.E60Q RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.E60Q|C16orf46_ENST00000444657.3_Intron NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 60 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 ATAATAAACTCTTTGGCTTTT 0.393000 6 60 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34080579 34080579 + Silent SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:34080579C>A ENST00000389232.4 + 67 9820 c.9750C>A c.(9748-9750)ctC>ctA p.L3250L RYR3_ENST00000415757.3_Silent_p.L3250L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3250 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) CAGAACTCCTCATCCTGGACG 0.557000 8 45 0.00307968 0.00312903 1 1 0 COL3A1 1281 broad.mit.edu 37 2 189849538 189849538 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:189849538C>G ENST00000304636.3 + 2 302 c.132C>G c.(130-132)gtC>gtG p.V44V COL3A1_ENST00000317840.5_Silent_p.V44V NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 44 VWFC. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ATAGAGATGTCTGGAAGCCAG 0.448000 9 57 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4789241 4789241 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:4789241G>A ENST00000355280.6 + 8 871 c.675G>A c.(673-675)gaG>gaA p.E225E MINK1_ENST00000453408.3_Silent_p.E225E|MINK1_ENST00000347992.7_Silent_p.E225E NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 225 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CAGCCATCGAGATGGCAGAGG 0.552000 8 24 0 0 1 0 0 APOA2 336 broad.mit.edu 37 1 161192237 161192237 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:161192237C>G ENST00000464492.1 - 4 398 c.360G>C c.(358-360)ttG>ttC p.L120F APOA2_ENST00000367990.3_Missense_Mutation_p.L87F|APOA2_ENST00000463812.1_Missense_Mutation_p.L39F|APOA2_ENST00000470459.2_Missense_Mutation_p.L69F|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Missense_Mutation_p.L39F|AL590714.1_ENST00000594609.1_Missense_Mutation_p.Q58E P02652 APOA2_HUMAN apolipoprotein A-II cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CGAAATAGCTCAAGAAGTTAA 0.507000 13 313 0 0 1 0 0 TXNDC9 10190 broad.mit.edu 37 2 99938530 99938530 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:99938530C>A ENST00000264255.3 - 4 706 c.451G>T c.(451-453)Gat>Tat p.D151Y TXNDC9_ENST00000434323.1_3'UTR|C2orf15_ENST00000465095.1_Intron|TXNDC9_ENST00000409434.1_Missense_Mutation_p.D151Y NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 151 Thioredoxin. cell redox homeostasis protein binding lung(1) 1 GTTTTCCCATCTTTTAGCAGT 0.408000 5 98 0.00116845 0.00120651 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79258928 79258928 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:79258928C>T ENST00000264895.6 + 20 2819 c.2379C>T c.(2377-2379)agC>agT p.S793S FRAS1_ENST00000325942.6_Silent_p.S793S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 793 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCAGGACCAGCTGCAGGGAAG 0.562000 10 59 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47426736 47426736 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:47426736C>T ENST00000426342.1 - 9 1782 c.1036G>A c.(1036-1038)Gag>Aag p.E346K MDGA2_ENST00000357362.3_Missense_Mutation_p.E346K|MDGA2_ENST00000439988.3_Missense_Mutation_p.E644K|MDGA2_ENST00000399232.2_Missense_Mutation_p.E575K NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 575 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AAGCGCCACTCATAGGTCAGC 0.468000 27 59 0 0 1 0 0 THEM5 284486 broad.mit.edu 37 1 151823664 151823664 + Missense_Mutation SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:151823664T>C ENST00000368817.5 - 3 460 c.329A>G c.(328-330)aAa>aGa p.K110R NM_182578.3 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 110 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACAGTCACCTTTGTCTGGGGA 0.507000 29 66 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14518848 14518848 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:14518848G>C ENST00000454876.2 + 11 1674 c.1345G>C c.(1345-1347)Gag>Cag p.E449Q SLC6A6_ENST00000360861.3_Missense_Mutation_p.E449Q P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 449 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GATGGTGACGGAGGTAGGTGG 0.572000 7 29 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083685 17083685 + RNA SNP C C A rs3197973 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:17083685C>A ENST00000455405.2 - 0 903 ACTGTACTTACAAGTTTTGTC 0.403000 4 28 1.024e-07 1.10788e-07 1 1 0 MAP6 4135 broad.mit.edu 37 11 75319253 75319253 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:75319253G>A ENST00000434603.2 - 2 1084 c.1020C>T c.(1018-1020)ttC>ttT p.F340F MAP6_ENST00000526740.1_Silent_p.F11F|MAP6_ENST00000304771.3_Silent_p.F340F NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 340 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) CCTCTCCTTTGAACTGAGCAC 0.507000 8 54 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21826220 21826220 + RNA SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:21826220G>A ENST00000426869.3 + 0 403 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) TCTGAGAAGTGAAGCCACACC 0.527000 5 39 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44869807 44869807 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:44869807C>G ENST00000372262.3 - 2 745 c.345G>C c.(343-345)ctG>ctC p.L115L CDH22_ENST00000537909.1_Silent_p.L115L NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 115 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TGTCGCCTGTCAGCTCGTCGA 0.627000 4 33 0 0 1 0 0 NUTM2A-AS1 728190 broad.mit.edu 37 10 88975905 88975905 + RNA SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:88975905C>A ENST00000451940.2 - 0 600 TGTTGTGGTTCATCAGAGACA 0.552000 3 22 0.150653 0.152093 1 1 0 TRAV36DV7 28646 broad.mit.edu 37 14 22694689 22694689 + RNA SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:22694689C>G ENST00000390463.3 + 0 49 TACTAGCTATCTTTTGGCTTC 0.428000 4 23 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56228162 56228162 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:56228162C>G ENST00000332836.2 - 5 2289 c.2262G>C c.(2260-2262)ttG>ttC p.L754F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 754 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTTCGTCCCTCAAGGGATTTT 0.532000 9 59 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196388303 196388303 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:196388303G>A ENST00000328557.4 + 3 1992 c.1789G>A c.(1789-1791)Gac>Aac p.D597N NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species GAATCCATATGACTGCTGTGG 0.607000 14 60 0 0 1 0 0 APOA2 336 broad.mit.edu 37 1 161192273 161192273 + Nonsense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:161192273C>T ENST00000594609.1 + 2 208 c.208C>T c.(208-210)Cag>Tag p.Q70* APOA2_ENST00000367990.3_Silent_p.L75L|APOA2_ENST00000463812.1_Silent_p.L27L|APOA2_ENST00000464492.1_Silent_p.L108L|APOA2_ENST00000470459.2_Intron|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Silent_p.L27L CCTTCTTGATCAGGGGTGTCA 0.507000 12 389 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68919643 68919643 + Nonsense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:68919643G>C ENST00000356291.2 - 10 1360 c.1301C>G c.(1300-1302)tCa>tGa p.S434* UBA6-AS1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 434 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 ACCAGTCTTTGAGGCAATCCA 0.403000 6 44 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35738548 35738548 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:35738548C>T ENST00000378094.4 - 13 2542 c.2029G>A c.(2029-2031)Gat>Aat p.D677N GBA2_ENST00000378103.3_Missense_Mutation_p.D677N|GBA2_ENST00000545786.1_Missense_Mutation_p.D683N|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'UTR Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 677 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACCCATCCATCATAGGTCTGG 0.507000 16 63 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97888417 97888417 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:97888417C>T ENST00000356526.2 + 1 874 c.874C>T c.(874-876)Ctg>Ttg p.L292L NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CATCTACAGTCTGAGAAATAA 0.338000 10 49 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30214281 30214281 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:30214281C>T ENST00000261708.4 - 8 732 c.595G>A c.(595-597)Gaa>Aaa p.E199K UTP6_ENST00000490218.2_5'UTR NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 199 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TTTTCAAATTCTTCCTTCTCC 0.343000 7 34 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204354651 204354651 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:204354651G>A ENST00000319170.5 - 4 687 c.388C>T c.(388-390)Cat>Tat p.H130Y RAPH1_ENST00000423104.1_Missense_Mutation_p.H130Y|RAPH1_ENST00000374493.3_Missense_Mutation_p.H130Y|RAPH1_ENST00000374489.2_Missense_Mutation_p.H130Y|RAPH1_ENST00000308091.4_Missense_Mutation_p.H130Y|RAPH1_ENST00000418114.1_Missense_Mutation_p.H130Y|RAPH1_ENST00000457812.1_Missense_Mutation_p.H130Y|RAPH1_ENST00000439222.1_Missense_Mutation_p.H130Y|RAPH1_ENST00000419464.1_Missense_Mutation_p.H130Y|RAPH1_ENST00000374488.2_Missense_Mutation_p.H130Y|RAPH1_ENST00000453034.1_Missense_Mutation_p.H130Y NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 130 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAGGTGCCATGTTTCAATGTA 0.453000 35 91 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151779987 151779987 + Missense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:151779987G>T ENST00000356728.6 - 10 1609 c.1455C>A c.(1453-1455)ttC>ttA p.F485L RORC_ENST00000392697.3_Missense_Mutation_p.F560L|RORC_ENST00000318247.6_Missense_Mutation_p.F506L|RORC_ENST00000480719.1_5'UTR NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 506 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTTCAGTGCTGAAGAGCTCCT 0.607000 5 34 0.217242 0.218622 1 1 0 SPAST 6683 broad.mit.edu 37 2 32352058 32352058 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:32352058C>G ENST00000315285.3 + 8 1265 c.1140C>G c.(1138-1140)ctC>ctG p.L380L SPAST_ENST00000345662.1_Silent_p.L348L NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 380 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGCTGTTACTCTTTGGTCCAC 0.358000 16 48 0 0 1 0 0 DPH7 92715 broad.mit.edu 37 9 140458893 140458893 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:140458893C>G ENST00000277540.2 - 8 1099 c.942G>C c.(940-942)aaG>aaC p.K314N DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 CACCCATTGCCTTTTGGCAGT 0.632000 4 22 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5773097 5773097 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:5773097G>C ENST00000328090.5 + 11 1760 c.1135G>C c.(1135-1137)Gac>Cac p.D379H RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 379 TTCCAGAGCAGACAACAGCTC 0.453000 7 86 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52741532 52741532 + Silent SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:52741532A>G ENST00000306051.2 + 2 1032 c.930A>G c.(928-930)cgA>cgG p.R310R PTGDR_ENST00000553372.1_3'UTR NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 310 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GAGCCTTGCGATTTCTATCTG 0.378000 7 47 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45399754 45399754 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:45399754G>A ENST00000371438.1 + 3 936 c.578G>A c.(577-579)cGa>cAa p.R193Q RUNX2_ENST00000371436.6_Missense_Mutation_p.R193Q|RUNX2_ENST00000541979.1_Missense_Mutation_p.R261Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.R179Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.R193Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.R261Q|RUNX2_ENST00000576263.1_Missense_Mutation_p.R193Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.R179Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 193 Runt. R -> C (in CLCD).|R -> Q (in CLCD). negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CGGAGTGGACGAGGTAGGTCT 0.408000 4 18 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44845629 44845629 + Missense_Mutation SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:44845629A>G ENST00000372262.3 - 4 1074 c.674T>C c.(673-675)gTa>gCa p.V225A CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.V225A NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 225 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGTCCGGATTACGCCTGTGGG 0.652000 19 46 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54031249 54031249 + Splice_Site SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:54031249G>A ENST00000373980.4 + 11 1730 c.1313G>A c.(1312-1314)aGa>aAa p.R438K PRKG1_ENST00000373975.2_Splice_Site_p.R141K|PRKG1_ENST00000373985.1_Splice_Site_p.R411K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000401604.2_Splice_Site_p.R423K NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 423 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TTCATAGTGAGGTAAAGGCTC 0.488000 4 19 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20441589 20441589 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:20441589G>C ENST00000222573.4 + 10 2211 c.1527G>C c.(1525-1527)gaG>gaC p.E509D ITGB8_ENST00000537992.1_Missense_Mutation_p.E374D NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 TTTCTTCTGAGAGTTGCAAGT 0.383000 38 115 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56191385 56191385 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:56191385G>C ENST00000340462.4 - 2 454 c.174C>G c.(172-174)gtC>gtG p.V58V ZBP1_ENST00000541799.1_Silent_p.V58V|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Silent_p.V58V|ZBP1_ENST00000371173.3_Silent_p.V58V|ZBP1_ENST00000538947.1_5'UTR Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 58 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) ATGTGAGGGAGACTTTCAACT 0.597000 4 138 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 51 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7473374 7473374 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:7473374G>A ENST00000399422.4 + 6 1023 c.975G>A c.(973-975)cgG>cgA p.R325R NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 325 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CTGTGTACCGGATGCTCGTGC 0.458000 4 29 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907442 65907442 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:65907442C>T ENST00000321892.4 + 13 3881 c.3820C>T c.(3820-3822)Ctt>Ttt p.L1274F BPTF_ENST00000335221.5_Missense_Mutation_p.L1274F|BPTF_ENST00000306378.6_Missense_Mutation_p.L1148F|BPTF_ENST00000424123.3_Missense_Mutation_p.L1135F Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1274 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTCCTCAGTTCTTAGAATGAG 0.413000 5 40 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91842710 91842710 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:91842710G>C ENST00000394507.1 - 18 2607 c.1824C>G c.(1822-1824)ctC>ctG p.L608L KRIT1_ENST00000412043.2_Silent_p.L608L|KRIT1_ENST00000394505.2_Silent_p.L608L|KRIT1_ENST00000340022.2_Silent_p.L608L|KRIT1_ENST00000394503.2_Silent_p.L560L NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 608 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CACTTGTACTGAGATTCTAAA 0.328000 8 30 0 0 1 0 0 LAX1 54900 broad.mit.edu 37 1 203743121 203743121 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:203743121C>T ENST00000442561.2 + 5 899 c.509C>T c.(508-510)tCg>tTg p.S170L LAX1_ENST00000367217.5_Missense_Mutation_p.S154L|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 170 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.S170L(1) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CTCACTCCCTCGGCACACTGC 0.532000 7 59 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623984 2623984 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:2623984C>T ENST00000296847.3 - 3 596 c.73G>A c.(73-75)Gag>Aag p.E25K NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 25 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) CTTTCTCCCTCGGGAGACAGG 0.562000 4 31 0 0 1 0 0 ELMOD2 255520 broad.mit.edu 37 4 141456971 141456971 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:141456971G>C ENST00000323570.3 + 4 388 c.256G>C c.(256-258)Gag>Cag p.E86Q NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 86 phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) TATTAACCCTGAGAAGGATGC 0.338000 7 22 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153654315 153654315 + Splice_Site SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:153654315G>C ENST00000368680.3 + 4 1643 c.1171G>C c.(1171-1173)Ggt>Cgt p.G391R NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 391 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) AAGCTTTCAAGGTCAGGGCCT 0.562000 3 37 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19188954 19188954 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:19188954G>C ENST00000263200.10 - 23 3723 c.3651C>G c.(3649-3651)ctC>ctG p.L1217L CLTCL1_ENST00000427926.1_Silent_p.L1217L|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.L1217L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1217 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CATTGCTATAGAGCAGCTTGG 0.537000 T ? ALCL 4 38 0 0 1 0 0 PPP1R36 145376 broad.mit.edu 37 14 65055968 65055968 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:65055968C>A ENST00000298705.1 + 12 1277 c.1181C>A c.(1180-1182)tCc>tAc p.S394Y RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 394 AGATATCCTTCCTTGATGGAA 0.438000 10 82 0.0931896 0.0943805 1 1 0 FBP1 2203 broad.mit.edu 37 9 97401532 97401532 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:97401532C>T ENST00000415431.1 - 2 290 c.61G>A c.(61-63)Gag>Aag p.E21K FBP1_ENST00000375326.4_Missense_Mutation_p.E21K NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 21 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TTCCTGCCCTCCTCCATGACG 0.662000 3 6 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 8 17 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832959 42832959 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:42832959G>C ENST00000314073.5 + 13 3191 c.3015G>C c.(3013-3015)aaG>aaC p.K1005N GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.K1005N GLTSCR1-like AGCTGACAAAGAGCTTGGAAA 0.488000 5 36 0 0 1 0 0 CLEC1A 51267 broad.mit.edu 37 12 10224041 10224041 + Missense_Mutation SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:10224041A>G ENST00000315330.4 - 6 796 c.734T>C c.(733-735)tTc>tCc p.F245S CLEC1A_ENST00000457018.2_Missense_Mutation_p.F212S|CLEC1A_ENST00000420265.2_Missense_Mutation_p.F153S NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 245 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 GTCCTTTGAGAAGATCATCCC 0.443000 34 193 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155753858 155753858 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:155753858G>A ENST00000437809.1 - 14 1933 c.1811C>T c.(1810-1812)tCc>tTc p.S604F GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.S604F|GON4L_ENST00000361040.5_Missense_Mutation_p.S604F|GON4L_ENST00000271883.5_Missense_Mutation_p.S604F NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 604 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTCCATGTTGGAGAATCCCAT 0.507000 8 104 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628553 173628553 + Missense_Mutation SNP T T A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:173628553T>A ENST00000333279.2 - 2 65 c.5A>T c.(4-6)gAg>gTg p.E2V NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 18 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TCCTTCTGACTCCATTAACTC 0.363000 20 45 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100607832 100607832 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:100607832C>T ENST00000319509.7 + 5 1979 c.1979C>T c.(1978-1980)aCc>aTc p.T660I RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated p.T660N(2) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CAGGTGAAGACCACGCTGAAG 0.647000 5 54 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85699717 85699717 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:85699717C>G ENST00000322366.6 - 27 4864 c.4457G>C c.(4456-4458)gGa>gCa p.G1486A WDFY3_ENST00000295888.4_Missense_Mutation_p.G1486A Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1486 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGTCTCATGTCCACTATCAAC 0.368000 14 76 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279469 53279469 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chrX:53279469G>C ENST00000396435.3 - 5 2489 c.2289C>G c.(2287-2289)ctC>ctG p.L763L IQSEC2_ENST00000375368.5_Silent_p.L753L|IQSEC2_ENST00000375365.2_Silent_p.L558L NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 753 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 ACTTGTTGAAGAGGTTGAGGC 0.572000 13 13 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122289485 122289485 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:122289485C>T ENST00000296161.4 + 4 2308 c.2119C>T c.(2119-2121)Cac>Tac p.H707Y DTX3L_ENST00000383661.3_Missense_Mutation_p.H195Y NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 707 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GAATGATATTCACCACAAAAC 0.418000 4 71 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66616455 66616455 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:66616455G>A ENST00000393960.1 - 23 3733 c.3452C>T c.(3451-3453)tCa>tTa p.S1151L PC_ENST00000393955.2_Missense_Mutation_p.S1151L|PC_ENST00000528224.1_5'UTR|PC_ENST00000393958.2_Missense_Mutation_p.S1151L|PC_ENST00000529047.1_Missense_Mutation_p.S271L NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 1151 Biotinyl-binding. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CTCCATGGGTGAGGTCACCAC 0.577000 14 42 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132658177 132658177 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:132658177C>A ENST00000420781.1 - 16 1977 c.1759G>T c.(1759-1761)Gat>Tat p.D587Y FNBP1_ENST00000443566.2_Missense_Mutation_p.D224Y|FNBP1_ENST00000355681.3_Missense_Mutation_p.D567Y|FNBP1_ENST00000446176.2_Missense_Mutation_p.D596Y Q96RU3 FNBP1_HUMAN formin binding protein 1 596 Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CCCTCTTCATCTTCATTTCTC 0.393000 T MLL AML 10 32 4.68919e-08 5.09066e-08 1 1 0 DLG5 9231 broad.mit.edu 37 10 79628952 79628952 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:79628952G>C ENST00000372391.2 - 2 313 c.308C>G c.(307-309)tCt>tGt p.S103C DLG5_ENST00000372388.2_Missense_Mutation_p.S103C|AL391421.1_ENST00000372387.1_3'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 103 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GCTGTAGGTAGAACCTGGGGA 0.582000 6 40 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19767686 19767686 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:19767686C>G ENST00000357324.6 - 6 972 c.946G>C c.(946-948)Gag>Cag p.E316Q ATP13A1_ENST00000291503.5_Missense_Mutation_p.E198Q NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 316 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGTACGATCTCATCACTGGCA 0.662000 5 13 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825481 26825481 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:26825481C>T ENST00000541819.2 - 7 937 c.835G>A c.(835-837)Gtt>Att p.V279I GABRB3_ENST00000400188.3_Missense_Mutation_p.V152I|GABRB3_ENST00000299267.4_Missense_Mutation_p.V223I|GABRB3_ENST00000545868.1_Missense_Mutation_p.V138I|GABRB3_ENST00000311550.5_Missense_Mutation_p.V223I P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 223 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.V223F(2)|p.V279F(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCGAAGACAACATTCCTCGAG 0.557000 5 40 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46287796 46287796 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr18:46287796G>C ENST00000256413.3 + 9 1402 c.1107G>C c.(1105-1107)caG>caC p.Q369H CTIF_ENST00000382998.4_Missense_Mutation_p.Q371H NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 369 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding p.Q369H(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CTCCCCAGCAGAACAAGATGG 0.577000 3 29 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153056622 153056622 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:153056622G>C ENST00000285900.5 + 7 1273 c.930G>C c.(928-930)caG>caC p.Q310H GRIA1_ENST00000518142.1_Missense_Mutation_p.Q230H|GRIA1_ENST00000521843.2_Missense_Mutation_p.Q241H|GRIA1_ENST00000340592.5_Missense_Mutation_p.Q310H|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q320H|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q320H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 310 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCGGAGGCAGAGAATTGATA 0.567000 3 26 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8748927 8748927 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr8:8748927C>G ENST00000276282.6 - 1 2228 c.1642G>C c.(1642-1644)Gag>Cag p.E548Q NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 548 Roc. endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CATTTCTCCTCCAGCTCACGC 0.662000 10 15 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225265855 225265855 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:225265855C>T ENST00000389874.3 - 1 856 c.631G>A c.(631-633)Gag>Aag p.E211K FAM124B_ENST00000243806.2_Missense_Mutation_p.E211K|FAM124B_ENST00000409685.3_Missense_Mutation_p.E211K NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 211 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) TGGCCGATCTCTTGAACCTTA 0.547000 3 35 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161265 29161265 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:29161265C>A ENST00000321990.4 + 2 544 c.166C>A c.(166-168)Cca>Aca p.P56T NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 56 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGTTTTTGCTCCACCAAAACC 0.373000 6 39 3.59834e-05 3.81496e-05 1 1 0 ZMYM6 9204 broad.mit.edu 37 1 35480460 35480460 + Silent SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:35480460C>A ENST00000357182.4 - 6 860 c.633G>T c.(631-633)gtG>gtT p.V211V ZMYM6_ENST00000487874.1_Silent_p.V211V|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Silent_p.V211V NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 211 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GACCATGTACCACATTTTGAT 0.353000 7 40 2.7689e-08 3.01629e-08 1 1 0 ZNF782 158431 broad.mit.edu 37 9 99580848 99580848 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:99580848G>C ENST00000481138.1 - 6 2118 c.1457C>G c.(1456-1458)tCt>tGt p.S486C ZNF782_ENST00000535338.1_Missense_Mutation_p.S354C NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ATGGCTGAAAGATTTCCCGCA 0.403000 25 160 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30756161 30756161 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:30756161C>G ENST00000309052.4 + 4 668 c.459C>G c.(457-459)ctC>ctG p.L153L LCLAT1_ENST00000319406.4_Silent_p.L153L|LCLAT1_ENST00000359433.1_Silent_p.L153L|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Silent_p.L115L|LCLAT1_ENST00000540623.1_Silent_p.L115L NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 153 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 AAGCGAGTCTCAAAGGTGTTC 0.393000 45 103 0 0 1 0 0 NHP2 55651 broad.mit.edu 37 5 177580526 177580526 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:177580526C>G ENST00000274606.3 - 2 345 c.196G>C c.(196-198)Gag>Cag p.E66Q NHP2_ENST00000314397.4_Missense_Mutation_p.E66Q NM_017838.3 NP_060308.1 Q9NX24 NHP2_HUMAN NHP2 ribonucleoprotein 66 rRNA pseudouridine synthesis Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding endometrium(1)|kidney(1)|ovary(2) 4 TTCTGAACCTCTTTCACCCCG 0.527000 13 125 0 0 1 0 0 SLC15A4 121260 broad.mit.edu 37 12 129293983 129293983 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:129293983C>G ENST00000266771.5 - 4 1086 c.1047G>C c.(1045-1047)ttG>ttC p.L349F SLC15A4_ENST00000539703.1_5'UTR|SLC15A4_ENST00000544112.1_Missense_Mutation_p.L12F NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 349 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) CTGGAATCCTCAAATGAAGAC 0.333000 6 95 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152755013 152755013 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:152755013C>T ENST00000367255.5 - 34 4979 c.4378G>A c.(4378-4380)Gtc>Atc p.V1460I SYNE1_ENST00000265368.4_Missense_Mutation_p.V1460I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V1467I|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.V1467I|SYNE1_ENST00000367253.4_Missense_Mutation_p.V1460I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V1530I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1460 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTTATCCAGACGGACAGAGTC 0.368000 HNSCC(10;0.0054) 5 54 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186269244 186269244 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:186269244G>A ENST00000445192.2 + 3 143 c.98G>A c.(97-99)aGa>aAa p.R33K PRG4_ENST00000367485.4_Missense_Mutation_p.R33K|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.R33K|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 33 SMB 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGTGCAGGGAGATGTGGGGAA 0.448000 17 121 0 0 1 0 0 PPP1R36 145376 broad.mit.edu 37 14 65055919 65055919 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:65055919C>T ENST00000298705.1 + 12 1228 c.1132C>T c.(1132-1134)Cac>Tac p.H378Y RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 378 ACATACGCTTCACCCCCTTGA 0.438000 12 70 0 0 1 0 0 PRL 5617 broad.mit.edu 37 6 22294697 22294697 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:22294697G>A ENST00000306482.1 - 2 663 c.145C>T c.(145-147)Cgc>Tgc p.R49C RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 49 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) ACGACGGCGCGGTCAAACAGG 0.597000 8 36 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74076511 74076511 + Missense_Mutation SNP G G A rs146601260 byFrequency TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:74076511G>A ENST00000394070.2 + 6 1267 c.764G>A c.(763-765)cGc>cAc p.R255H STAMBP_ENST00000339566.3_Missense_Mutation_p.R255H|STAMBP_ENST00000409707.1_Missense_Mutation_p.R255H|STAMBP_ENST00000394073.1_Missense_Mutation_p.R255H|STAMBP_ENST00000536064.1_Missense_Mutation_p.A195T NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 255 MPN. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding p.R255H(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 GATGGATTGCGCCATGTGGTG 0.567000 8 72 0 0 1 0 0 CASQ2 845 broad.mit.edu 37 1 116244023 116244023 + Missense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:116244023G>T ENST00000261448.5 - 11 1278 c.1039C>A c.(1039-1041)Cca>Aca p.P347T CASQ2_ENST00000456138.2_Missense_Mutation_p.P276T NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 347 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TCATCATCTGGAATCTCCATC 0.473000 6 63 0.00198382 0.00202861 1 1 0 LRP1 4035 broad.mit.edu 37 12 57552204 57552204 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:57552204C>T ENST00000243077.3 + 11 2047 c.1581C>T c.(1579-1581)ttC>ttT p.F527F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 527 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATGAGCTGTTCCTCGTGTATG 0.607000 4 37 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298416 62298416 + Nonsense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:62298416G>C ENST00000378024.4 - 5 3747 c.3473C>G c.(3472-3474)tCa>tGa p.S1158* AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1158 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTGGGTCCTGAGACAACAAC 0.517000 62 142 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79282269 79282269 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chrX:79282269G>C ENST00000442340.1 + 6 830 c.340G>C c.(340-342)Gac>Cac p.D114H TBX22_ENST00000373296.3_Missense_Mutation_p.D234H|TBX22_ENST00000373294.5_Missense_Mutation_p.D234H|TBX22_ENST00000373291.1_Missense_Mutation_p.D114H NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 234 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGCAGTGTTGACCTGTCCCA 0.443000 22 17 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281565 281565 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:281565G>A ENST00000534750.1 + 4 2036 c.1831G>A c.(1831-1833)Gag>Aag p.E611K NLRP6_ENST00000312165.5_Missense_Mutation_p.E611K NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GGAGGAGGAGGAGGGAGAGGA 0.662000 17 49 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98418970 98418970 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:98418970C>G ENST00000186436.5 - 24 2800 c.2572G>C c.(2572-2574)Gat>Cat p.D858H NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 858 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 ACAGGAACATCTGCAGGATTT 0.299000 13 25 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726682 32726682 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:32726682G>C ENST00000435145.2 - 3 652 c.591C>G c.(589-591)atC>atG p.I197M HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.I197M|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.I197M Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 197 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 GGCAGGTGTAGATGTCTCCAC 0.557000 3 21 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20819242 20819242 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:20819242C>T ENST00000527915.1 + 6 502 c.497C>T c.(496-498)tCa>tTa p.S166L PARP2_ENST00000429687.3_Missense_Mutation_p.S153L|PARP2_ENST00000250416.5_Missense_Mutation_p.S166L Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 166 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) GTGGCTTGTTCAGGCAATCTC 0.428000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 4 26 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131529 136131529 + RNA SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:136131529C>T ENST00000453660.2 - 0 599 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AAGCGCCGCTCGCAGAAGTCA 0.647000 3 8 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 34 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43539109 43539109 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:43539109G>C ENST00000306846.3 - 5 995 c.763C>G c.(763-765)Caa>Gaa p.Q255E PAIP1_ENST00000436644.2_Missense_Mutation_p.Q176E|PAIP1_ENST00000514514.1_Missense_Mutation_p.Q176E|PAIP1_ENST00000338972.4_Missense_Mutation_p.Q143E NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 255 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) TTTGCAGCTTGATCTTTAACT 0.323000 20 105 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125891340 125891340 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:125891340G>A ENST00000392693.3 - 3 279 c.152C>T c.(151-153)tCt>tTt p.S51F CDON_ENST00000263577.7_Missense_Mutation_p.S51F NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 51 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) AGGTTGAGCAGAACAATGCAG 0.453000 3 50 0 0 1 0 0 GJA9 81025 broad.mit.edu 37 1 39341511 39341511 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:39341511G>A ENST00000454994.2 - 2 536 c.260C>T c.(259-261)tCa>tTa p.S87L RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Missense_Mutation_p.S87L|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S87L P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 87 cell communication connexon complex|integral to membrane p.S87L(1) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CAGGGATGGTGAAGACACAAA 0.473000 12 83 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142141711 142141711 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:142141711C>G ENST00000264951.4 - 7 881 c.764G>C c.(763-765)aGa>aCa p.R255T XRN1_ENST00000544157.1_Missense_Mutation_p.R45T|XRN1_ENST00000463916.1_Missense_Mutation_p.R255T|XRN1_ENST00000392981.2_Missense_Mutation_p.R255T NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 255 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 AATATACTCTCTCATTAAAGA 0.328000 8 87 0 0 1 0 0 PSMA4 5685 broad.mit.edu 37 15 78834558 78834558 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:78834558G>A ENST00000044462.7 + 3 193 c.43G>A c.(43-45)Gaa>Aaa p.E15K PSMA4_ENST00000559082.1_Missense_Mutation_p.E15K|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Missense_Mutation_p.E15K|PSMA4_ENST00000558281.1_Missense_Mutation_p.E15K|PSMA4_ENST00000560217.1_Missense_Mutation_p.E15K|PSMA4_ENST00000413382.2_5'UTR NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 15 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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 ATTTTCTCCAGAAGGTAAAAT 0.343000 3 53 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177093544 177093544 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:177093544G>C ENST00000393643.2 + 25 3418 c.3166G>C c.(3166-3168)Gaa>Caa p.E1056Q WDR17_ENST00000508596.1_Missense_Mutation_p.E1041Q|WDR17_ENST00000280190.4_Missense_Mutation_p.E1080Q|WDR17_ENST00000507824.2_Missense_Mutation_p.E1055Q NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1080 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ACCCACAGTGGAAGAATGTAT 0.338000 6 46 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204226675 204226675 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:204226675G>A ENST00000272203.3 - 9 1646 c.1330C>T c.(1330-1332)Ctg>Ttg p.L444L PLEKHA6_ENST00000414478.1_Silent_p.L464L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 444 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) AGGCGGCGCAGGGAGCTAGAG 0.687000 7 20 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47929218 47929218 + Missense_Mutation SNP A A G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr21:47929218A>G ENST00000318711.7 + 7 1019 c.836A>G c.(835-837)aAc>aGc p.N279S DIP2A_ENST00000400274.1_Missense_Mutation_p.N278S|DIP2A_ENST00000466639.1_Missense_Mutation_p.N235S|DIP2A_ENST00000417564.2_Missense_Mutation_p.N278S|DIP2A_ENST00000457905.3_Missense_Mutation_p.N278S|DIP2A_ENST00000427143.2_Missense_Mutation_p.N214S|DIP2A_ENST00000435722.3_Missense_Mutation_p.N278S NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 278 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CAGCTTCTGAACACCCTGAAG 0.498000 10 79 0 0 1 0 0 MPZ 4359 broad.mit.edu 37 1 161276239 161276239 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:161276239C>G ENST00000533357.1 - 4 530 c.464G>C c.(463-465)gGg>gCg p.G155A MPZ_ENST00000360451.6_Missense_Mutation_p.G165A|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.G155A NM_000530.6 NP_000521.2 P25189 MYP0_HUMAN myelin protein zero 155 synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAGAACGACCCCGTACCTAGT 0.592000 7 140 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37607661 37607661 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr13:37607661G>A ENST00000360252.4 - 10 882 c.635C>T c.(634-636)cCt>cTt p.P212L SUPT20H_ENST00000464744.1_Missense_Mutation_p.P212L|SUPT20H_ENST00000542180.1_Missense_Mutation_p.P199L|SUPT20H_ENST00000350612.6_Missense_Mutation_p.P211L|SUPT20H_ENST00000356185.3_Missense_Mutation_p.P212L|SUPT20H_ENST00000475892.1_Missense_Mutation_p.P211L NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) TGCTATAGAAGGATCAAGACA 0.433000 23 78 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27426986 27426986 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:27426986C>T ENST00000263980.3 - 12 2835 c.2260G>A c.(2260-2262)Gag>Aag p.E754K SLC9A1_ENST00000545949.1_Missense_Mutation_p.E415K NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 754 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TCCTCGTCCTCCTCAGCCACC 0.622000 22 147 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229738564 229738564 + Missense_Mutation SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:229738564T>C ENST00000366675.3 - 4 438 c.350A>G c.(349-351)gAa>gGa p.E117G TAF5L_ENST00000366676.1_Missense_Mutation_p.E117G|TAF5L_ENST00000258281.2_Missense_Mutation_p.E117G NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 117 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) GTAAAAACTTTCCACTGTGCT 0.483000 5 69 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28898592 28898592 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:28898592C>G ENST00000395503.4 + 7 811 c.627C>G c.(625-627)ttC>ttG p.F209L ATP2A1_ENST00000357084.3_Missense_Mutation_p.F209L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.F84L NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 209 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 ACATGCTTTTCTCGGTGAGCA 0.567000 13 26 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072190 17072190 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:17072190C>T ENST00000359963.3 - 1 1510 c.1251G>A c.(1249-1251)atG>atA p.M417I NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 417 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TTGCCAAAGCCATTTCTGTGG 0.522000 18 27 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225265853 225265853 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:225265853C>T ENST00000389874.3 - 1 858 c.633G>A c.(631-633)gaG>gaA p.E211E FAM124B_ENST00000243806.2_Silent_p.E211E|FAM124B_ENST00000409685.3_Silent_p.E211E NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 211 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) ACTGGCCGATCTCTTGAACCT 0.552000 3 36 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100860029 100860029 + Nonsense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:100860029C>A ENST00000223127.3 - 2 546 c.148G>T c.(148-150)Gag>Tag p.E50* NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 50 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGGTACCCCTCGGTTTCAGCT 0.612000 5 15 4.096e-09 4.49284e-09 1 1 0 C15orf53 400359 broad.mit.edu 37 15 38988888 38988888 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr15:38988888G>A ENST00000318792.1 + 1 90 c.80G>A c.(79-81)aGc>aAc p.S27N NM_207444.2 NP_997327.1 Q8NAA6 CO053_HUMAN chromosome 15 open reading frame 53 27 endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) AGGCCAGGAAGCAAGGCTAAG 0.532000 10 70 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98741997 98741997 + Missense_Mutation SNP T T A rs144337666 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:98741997T>A ENST00000286067.2 + 1 957 c.850T>A c.(850-852)Tgc>Agc p.C284S NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 284 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GCCTGAGGTTTGCCCCACAAA 0.542000 6 53 0 0 1 0 0 TMED6 146456 broad.mit.edu 37 16 69377325 69377325 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:69377325C>T ENST00000288025.3 - 4 763 c.708G>A c.(706-708)aaG>aaA p.K236K RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 236 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 ATCTTGGCTTCTTTGTATCTG 0.423000 6 23 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106621934 106621934 + RNA SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:106621934C>T ENST00000390604.2 - 0 384 GGCTCTCCGTCTGTTCTTTTG 0.527000 16 119 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41004990 41004990 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:41004990C>G ENST00000399564.4 - 36 4347 c.3897G>C c.(3895-3897)ggG>ggC p.G1299G MROH2B_ENST00000506092.2_Silent_p.G854G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTCGCAGATTCCCATGCTTCC 0.532000 12 53 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43804263 43804263 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:43804263G>C ENST00000372470.3 + 3 305 c.263G>C c.(262-264)gGa>gCa p.G88A MPL_ENST00000413998.2_Missense_Mutation_p.G88A NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 88 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCCCACTTTGGAACCCGATAC 0.577000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 26 38 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41047252 41047252 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chrX:41047252G>C ENST00000324545.8 + 25 4325 c.3692G>C c.(3691-3693)aGa>aCa p.R1231T USP9X_ENST00000378308.2_Missense_Mutation_p.R1231T NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CAGGCTTCAAGATATATGCCT 0.328000 9 11 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98763895 98763895 + Silent SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:98763895C>A ENST00000266058.4 - 34 4040 c.3795G>T c.(3793-3795)ggG>ggT p.G1265G SLIT1_ENST00000371070.4_Silent_p.G1265G|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1265 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TCATGGGGCTCCCGCCATCAA 0.572000 25 179 8.58068e-18 9.54413e-18 1 1 0 RBBP8NL 140893 broad.mit.edu 37 20 60991266 60991266 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:60991266C>T ENST00000252998.1 - 6 496 c.340G>A c.(340-342)Gag>Aag p.E114K NM_080833.2 NP_543023.2 RBBP8 N-terminal like GTCTCGTTCTCTTCCTTCAGC 0.637000 3 26 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85642618 85642618 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:85642618C>T ENST00000322366.6 - 46 7905 c.7498G>A c.(7498-7500)Gag>Aag p.E2500K WDFY3_ENST00000295888.4_Missense_Mutation_p.E2517K Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2517 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCTCCTCCTCTTCTATGGAG 0.468000 15 105 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576886 7576886 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:7576886C>T ENST00000420246.2 - 9 1092 c.960G>A c.(958-960)aaG>aaA p.K320K TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Silent_p.K320K|TP53_ENST00000455263.2_Silent_p.K320K|TP53_ENST00000269305.4_Silent_p.K320K|TP53_ENST00000445888.2_Silent_p.K320K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 320 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2. K -> N (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.0?(8)|p.K320N(3)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.L308fs*15(1)|p.K320K(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) CCAGTGGTTTCTTCTTTGGCT 0.458000 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) 15 39 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73050857 73050857 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:73050857G>A ENST00000335350.6 + 9 1701 c.1285G>A c.(1285-1287)Gca>Aca p.A429T UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 429 apoptosis|axon guidance|regulation of apoptosis integral to membrane p.A429T(2) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CTTTAAGACGGCAAGGCCCAG 0.597000 5 192 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104715064 104715064 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:104715064C>G ENST00000526691.1 + 8 1347 c.891C>G c.(889-891)atC>atG p.I297M TXNRD1_ENST00000542918.1_Missense_Mutation_p.I295M|TXNRD1_ENST00000388854.3_Missense_Mutation_p.I297M|TXNRD1_ENST00000503506.2_Missense_Mutation_p.I245M|TXNRD1_ENST00000526950.1_Missense_Mutation_p.I314M|TXNRD1_ENST00000429002.2_Missense_Mutation_p.I395M|TXNRD1_ENST00000354940.6_Missense_Mutation_p.I245M|TXNRD1_ENST00000397736.2_Missense_Mutation_p.I289M|TXNRD1_ENST00000540716.1_Missense_Mutation_p.I207M|TXNRD1_ENST00000427956.1_Missense_Mutation_p.I360M|TXNRD1_ENST00000526390.1_Missense_Mutation_p.I289M|TXNRD1_ENST00000529546.1_Missense_Mutation_p.I207M|TXNRD1_ENST00000525566.1_Missense_Mutation_p.I395M|TXNRD1_ENST00000524698.1_Missense_Mutation_p.I245M|TXNRD1_ENST00000378070.4_Missense_Mutation_p.I344M NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 395 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 AACATGGCATCAAGTTTATAA 0.393000 12 40 0 0 1 0 0 CERK 64781 broad.mit.edu 37 22 47107008 47107008 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:47107008C>G ENST00000216264.8 - 5 656 c.544G>C c.(544-546)Gag>Cag p.E182Q CERK_ENST00000541677.1_Intron NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 182 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding p.E182K(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) ATGTTAATCTCATACAGAGTC 0.413000 10 57 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72414028 72414028 + Missense_Mutation SNP A A G rs150250764 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:72414028A>G ENST00000395270.1 + 14 3742 c.2701A>G c.(2701-2703)Agc>Ggc p.S901G POM121_ENST00000358357.3_Missense_Mutation_p.S901G|POM121_ENST00000446813.1_Missense_Mutation_p.S901G|POM121_ENST00000434423.2_Missense_Mutation_p.S1166G|POM121_ENST00000257622.4_Missense_Mutation_p.S901G NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1166 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTTCAACGTGAGCAGCACAAC 0.622000 4 50 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103060272 103060272 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:103060272C>T ENST00000262457.2 + 16 3256 c.3071C>T c.(3070-3072)tCt>tTt p.S1024F INVS_ENST00000541287.1_Missense_Mutation_p.S928F|INVS_ENST00000262456.2_Missense_Mutation_p.S854F NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 1024 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) AAAGCCTCTTCTGTGCTGCGT 0.453000 10 95 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6042261 6042261 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:6042261G>A ENST00000265849.7 - 5 465 c.360C>T c.(358-360)gtC>gtT p.V120V PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Silent_p.V14V|PMS2_ENST00000406569.3_Silent_p.V120V|PMS2_ENST00000382321.4_Silent_p.V120V NM_000535.5 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 120 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TAGAAATGGTGACATCGCTGT 0.483000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 124 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435712 158435712 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:158435712G>C ENST00000289451.2 + 1 441 c.361G>C c.(361-363)Gat>Cat p.D121H NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D121N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATGGGCTATGATCGCTATAT 0.532000 49 104 0 0 1 0 0 DCK 1633 broad.mit.edu 37 4 71895096 71895096 + Missense_Mutation SNP T T A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:71895096T>A ENST00000504952.1 + 8 1079 c.881T>A c.(880-882)aTc>aAc p.I294N DCK_ENST00000504730.1_3'UTR|DCK_ENST00000286648.5_3'UTR P27707 DCK_HUMAN deoxycytidine kinase 0 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) TACTTTGTGATCTTGCTGAAG 0.323000 6 40 0 0 1 0 0 SPCS2 9789 broad.mit.edu 37 11 74680674 74680674 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:74680674G>A ENST00000263672.6 + 4 463 c.424G>A c.(424-426)Gtg>Atg p.V142M SPCS2_ENST00000530257.1_Missense_Mutation_p.V73M|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Intron NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 142 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 CATCTTTCTCGTGGCCCACAG 0.393000 26 72 0 0 1 0 0 HSPD1 3329 broad.mit.edu 37 2 198359446 198359446 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:198359446C>G ENST00000388968.3 - 5 808 c.541G>C c.(541-543)Gaa>Caa p.E181Q HSPD1_ENST00000345042.2_Missense_Mutation_p.E181Q NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 181 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) TTGCCAATTTCTTTGTCTCCG 0.363000 10 34 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33047347 33047347 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:33047347G>C ENST00000397149.3 - 12 1536 c.1486C>G c.(1486-1488)Cag>Gag p.Q496E SMU1_ENST00000536631.1_Missense_Mutation_p.Q335E NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 496 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) ATCAGGTTCTGATGAGGGTGA 0.403000 5 41 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113802527 113802527 + Missense_Mutation SNP G G T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:113802527G>T ENST00000260191.2 + 4 563 c.306G>T c.(304-306)gaG>gaT p.E102D HTR3B_ENST00000537778.1_Missense_Mutation_p.E91D NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 102 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TGTTTGATGAGATTAGAGAGA 0.413000 15 109 1.5739e-10 1.73238e-10 1 1 0 PRPF3 9129 broad.mit.edu 37 1 150307587 150307587 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:150307587G>C ENST00000324862.6 + 7 1075 c.910G>C c.(910-912)Gac>Cac p.D304H PRPF3_ENST00000543398.1_Missense_Mutation_p.D169H|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.D255H NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 304 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) GCCATCAGAAGACATGGAATC 0.463000 3 41 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 39994310 39994310 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:39994310C>T ENST00000293303.4 + 1 279 c.126C>T c.(124-126)gtC>gtT p.V42V KLHL10_ENST00000485613.1_3'UTR NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 42 BTB. cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) GCGACGTGGTCATCAAGGTCA 0.502000 5 47 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49944005 49944005 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:49944005C>T ENST00000257981.6 + 10 2071 c.1811C>T c.(1810-1812)aCg>aTg p.T604M NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 604 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GCCTTCTGCACGCCGGGCGAG 0.672000 5 25 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640038 3640038 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:3640038G>C ENST00000294008.3 - 12 4241 c.3601C>G c.(3601-3603)Cag>Gag p.Q1201E NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1201 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GAAGGTTCCTGATCTGCATCA 0.527000 Direct reversal of damage 17 90 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60788643 60788643 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:60788643C>G ENST00000544856.2 - 10 2652 c.2274G>C c.(2272-2274)caG>caC p.Q758H RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q759H|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q797H|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.Q759H|RP11-156L14.1_ENST00000579201.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 759 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CTGCAAACCTCTGCTCATAGA 0.502000 12 215 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647530 20647530 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:20647530G>A ENST00000272233.4 + 1 696 c.304G>A c.(304-306)Gag>Aag p.E102K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 102 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GTGGGTCCCCGAGGTGAAGCA 0.612000 42 99 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31643287 31643287 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:31643287C>G ENST00000375494.3 + 1 58 c.58C>G c.(58-60)Cca>Gca p.P20A NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 20 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding CCTGGCGACTCCATGCCAGGA 0.617000 8 60 0 0 1 0 0 TAF11 6882 broad.mit.edu 37 6 34846442 34846442 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:34846442C>T ENST00000361288.4 - 5 692 c.561G>A c.(559-561)atG>atA p.M187I TAF11_ENST00000420584.2_Silent_p.*155*|UHRF1BP1_ENST00000452449.2_Intron NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 187 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 CGGCTTCCCTCATATGTTTGG 0.408000 19 70 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207782665 207782665 + Missense_Mutation SNP C C G rs117571325 by1000genomes TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:207782665C>G ENST00000367049.4 + 37 5927 c.5927C>G c.(5926-5928)tCc>tGc p.S1976C CR1_ENST00000400960.2_Missense_Mutation_p.S1526C|CR1_ENST00000367052.1_Missense_Mutation_p.S1526C|CR1_ENST00000367051.1_Missense_Mutation_p.S1526C|CR1_ENST00000367053.1_Missense_Mutation_p.S1526C NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1526 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCAACCATATCCAATGGAGAC 0.373000 13 75 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121526278 121526278 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr6:121526278G>C ENST00000275159.6 - 22 2512 c.2513C>G c.(2512-2514)tCt>tGt p.S838C TBC1D32_ENST00000398197.2_Intron|TBC1D32_ENST00000398212.2_Missense_Mutation_p.S838C TBC1 domain family, member 32 CTTAGCTTCAGAATTCAAAAT 0.254000 6 52 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26174706 26174706 + Missense_Mutation SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:26174706T>C ENST00000264712.3 - 5 2537 c.1958A>G c.(1957-1959)gAc>gGc p.D653G KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Missense_Mutation_p.D653G NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 653 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTCACAGTCCAGGAAAAG 0.562000 5 50 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38774977 38774977 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:38774977C>G ENST00000308973.4 - 4 2840 c.2235G>C c.(2233-2235)ctG>ctC p.L745L TLR10_ENST00000508334.1_Silent_p.L745L|TLR10_ENST00000506111.1_Silent_p.L745L|TLR10_ENST00000361424.2_Silent_p.L745L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 745 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GGAGAGCTTTCAGTTTATGAT 0.403000 17 49 0 0 1 0 0 SSBP4 170463 broad.mit.edu 37 19 18543829 18543829 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:18543829C>T ENST00000270061.7 + 14 1182 c.888C>T c.(886-888)atC>atT p.I296I SSBP4_ENST00000348495.6_Silent_p.I274I NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 TGAACCCCATCGGGCAGGGCG 0.627000 5 29 0 0 1 0 0 SPTLC2 9517 broad.mit.edu 37 14 77978735 77978735 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr14:77978735C>G ENST00000216484.2 - 12 1774 c.1581G>C c.(1579-1581)gaG>gaC p.E527D NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 527 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CTTCATCTATCTCCTTTAAAG 0.458000 7 30 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 5 30 0 0 1 0 0 FAM21EP 100421577 broad.mit.edu 37 10 51821255 51821255 + RNA SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:51821255C>G ENST00000456967.1 - 0 1379 NR_038275.1 TCCTCATCATCAAAGAGCCCC 0.552000 15 168 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53433926 53433926 + Splice_Site SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:53433926G>C ENST00000262056.9 + 15 2081 c.e15-1 RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site|RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000420463.3_Splice_Site|RP11-983P16.4_ENST00000550601.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 TTGTGTTACAGAAGTTCAGTT 0.443000 8 32 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32800360 32800360 + Missense_Mutation SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:32800360G>C ENST00000421745.2 + 66 13416 c.13282G>C c.(13282-13284)Gaa>Caa p.E4428Q NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4428 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGAACAGTCAGAATGTCAAAC 0.428000 13 94 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284482 152284482 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:152284482C>T ENST00000368799.1 - 3 2915 c.2880G>A c.(2878-2880)gaG>gaA p.E960E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 960 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCACCTCTCAGAGTCTT 0.582000 Ichthyosis 74 363 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15729952 15729952 + Silent SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr10:15729952G>A ENST00000378076.3 - 3 782 c.429C>T c.(427-429)caC>caT p.H143H NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 143 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTTTTCCTTTGTGAGCTTTCA 0.428000 20 66 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48081094 48081094 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:48081094C>T ENST00000348904.3 + 3 431 c.219C>T c.(217-219)ctC>ctT p.L73L C7orf57_ENST00000420324.1_Silent_p.L118L|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Silent_p.L73L|C7orf57_ENST00000430738.1_Silent_p.L118L NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 73 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 ATGTGAAGCTCGCGAAACAAG 0.557000 5 11 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32873927 32873927 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:32873927G>A ENST00000311921.4 + 6 2992 c.2800G>A c.(2800-2802)Gag>Aag p.E934K ZNF507_ENST00000544431.1_Missense_Mutation_p.E938K|ZNF507_ENST00000355898.5_Missense_Mutation_p.E934K NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GAAAGAGCACGAGGGTGAAAT 0.413000 10 56 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640180 3640180 + Silent SNP G G C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr16:3640180G>C ENST00000294008.3 - 12 4099 c.3459C>G c.(3457-3459)ctC>ctG p.L1153L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1153 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 AGTCCAGTAAGAGGATGACCT 0.433000 Direct reversal of damage 14 76 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236795 140236795 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr5:140236795C>T ENST00000307360.5 + 1 1162 c.1162C>T c.(1162-1164)Ctg>Ttg p.L388L PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.L388L|PCDHA4_ENST00000512229.2_Intron NM_018901.2 NP_061724.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTGCTCTCTGACGCCTCA 0.547000 12 76 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58260575 58260575 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:58260575C>G ENST00000300896.4 - 31 4268 c.4074G>C c.(4072-4074)ctG>ctC p.L1358L USP32_ENST00000592339.1_Silent_p.L1028L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1358 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GGCTTTTGCTCAGGAGCACGT 0.582000 6 88 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32588966 32588966 + Missense_Mutation SNP A A T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:32588966A>T ENST00000400236.3 - 4 1414 c.209T>A c.(208-210)cTg>cAg p.L70Q RFPL2_ENST00000248980.4_Missense_Mutation_p.L99Q|RFPL2_ENST00000400237.1_Missense_Mutation_p.L160Q|RFPL2_ENST00000248983.4_Missense_Mutation_p.L70Q|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 160 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 GTGGGAAGCCAGCCTCTCTAG 0.527000 23 56 0 0 1 0 0 DCAF7 10238 broad.mit.edu 37 17 61666498 61666498 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:61666498C>G ENST00000310827.4 + 8 1210 c.993C>G c.(991-993)atC>atG p.I331M DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.I131M|DCAF7_ENST00000431926.1_Intron NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 331 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 GGATCGCCATCTGCTACAACA 0.562000 17 44 0 0 1 0 0 EGLN1 54583 broad.mit.edu 37 1 231557029 231557029 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:231557029C>T ENST00000366641.3 - 1 3761 c.606G>A c.(604-606)atG>atA p.M202I NM_022051.2 NP_071334.1 Q9GZT9 EGLN1_HUMAN egl-9 family hypoxia-inducible factor 1 202 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding p.M202I(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) CGTGCTTGTTCATGCACGGCA 0.687000 4 30 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529675 80529675 + Nonsense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr2:80529675G>A ENST00000295057.3 - 2 1926 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Nonsense_Mutation_p.Q424*|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 424 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 TTGTGGATCTGCACGGCGTTC 0.662000 HNSCC(69;0.2) 7 46 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326231 152326231 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:152326231C>G ENST00000388718.5 - 3 4103 c.4031G>C c.(4030-4032)aGa>aCa p.R1344T FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1344 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGCTAAATCTCTGTCTTCC 0.483000 18 132 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99214603 99214603 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr4:99214603G>A ENST00000408927.3 + 2 162 c.49G>A c.(49-51)Gac>Aac p.D17N RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.D18N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.D18N|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.D17N|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.D18N|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.D18N NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 17 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) AACAGCTGTTGACAAGACTGA 0.353000 T NUP98 T-ALL 4 32 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76182885 76182885 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr17:76182885C>T ENST00000588734.1 - 2 319 c.81G>A c.(79-81)ccG>ccA p.P27P TK1_ENST00000301634.7_Silent_p.P27P|TK1_ENST00000590862.1_Silent_p.P27P|TK1_ENST00000405273.1_Silent_p.P27P|TK1_ENST00000590430.1_Silent_p.P27P P04183 KITH_HUMAN thymidine kinase 1, soluble 27 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) CTGAGAACATCGGCCCGAGAA 0.632000 2 0 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151681756 151681756 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:151681756C>G ENST00000290583.4 - 4 1139 c.346G>C c.(346-348)Gag>Cag p.E116Q CELF3_ENST00000290585.4_Missense_Mutation_p.E116Q|CELF3_ENST00000470688.1_5'UTR NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 116 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 CCGAAGGGCTCAAACATCTTC 0.617000 15 181 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648351 130648351 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr12:130648351C>T ENST00000539839.1 + 1 1348 c.766C>T c.(766-768)Cgc>Tgc p.R256C FZD10_ENST00000229030.4_Silent_p.I288I NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCGAGAGCATCGCCTGCGACC 0.642000 8 49 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 115053194 115053195 + Frame_Shift_Ins INS - - C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:115053194_115053195insC ENST00000358465.2 - 1 586_587 c.503_504insG c.(502-504)ggcfs p.G168fs TRIM33_ENST00000369543.2_Frame_Shift_Ins_p.G168fs NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 168 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CGCCGTTGCTGCCCCCCGGGAT 0.698 T RET papillary thyroid 2 4 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)agacaafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 7 690 --- --- --- --- PTH1R 5745 broad.mit.edu 37 3 46944832 46944832 + Frame_Shift_Del DEL G G - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr3:46944832delG ENST00000313049.5 + 14 1671 c.1468delG c.(1468-1470)gggfs p.G490fs PTH1R_ENST00000430002.2_Frame_Shift_Del_p.G490fs|PTH1R_ENST00000418619.1_Frame_Shift_Del_p.G490fs|PTH1R_ENST00000449590.1_Frame_Shift_Del_p.G490fs Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 490 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GGCACGCAGCGGGAGCAGCAG 0.617 7 30 --- --- --- --- PSPH 5723 broad.mit.edu 37 7 56087292 56087292 + Splice_Site DEL C C - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr7:56087292delC ENST00000395471.3 - 5 1081 c.e5+1 PSPH_ENST00000275605.3_Splice_Site|PSPH_ENST00000459834.1_Intron P78330 SERB_HUMAN phosphoserine phosphatase L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTCCTCTTACCTTATGCCGG 0.577 12 172 --- --- --- --- CEP78 84131 broad.mit.edu 37 9 80863781 80863781 + Frame_Shift_Del DEL T T - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr9:80863781delT ENST00000424347.2 + 8 1350 c.1061delT c.(1060-1062)attfs p.I354fs CEP78_ENST00000277082.5_Frame_Shift_Del_p.I354fs|CEP78_ENST00000376598.2_Frame_Shift_Del_p.I354fs|CEP78_ENST00000376597.4_Frame_Shift_Del_p.I354fs|CEP78_ENST00000415759.2_Frame_Shift_Del_p.I354fs Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 354 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AAAGCTACTATTAGAATTGGT 0.343 2 4 --- --- --- --- MICAL2 9645 broad.mit.edu 37 11 12264257 12264259 + In_Frame_Del DEL AAG AAG - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr11:12264257_12264259delAAG ENST00000256194.4 + 20 2884_2886 c.2596_2598delAAG c.(2596-2598)aagdel p.K866del MICAL2_ENST00000342902.5_In_Frame_Del_p.K866del|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 866 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.K866N(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ATTTCACACAAAGAACATTAAGG 0.502 9 77 --- --- --- --- ZNF528-AS1 102724105 broad.mit.edu 37 19 52896073 52896074 + RNA DEL TA TA - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:52896073_52896074delTA ENST00000601562.1 - 0 784 GTGGAAGCTGTATATATATATA 0.460 3 5 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649689 54649689 + Frame_Shift_Del DEL G G - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr19:54649689delG ENST00000406403.1 + 8 2350 c.747delG c.(745-747)atgfs p.M249fs CNOT3_ENST00000358389.3_Frame_Shift_Del_p.M68fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.M249fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 249 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACAGCCACATGGAGGATGAGA 0.647 7 58 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr20:23066469delC ENST00000246006.4 - 1 508 c.361delG c.(361-363)gagfs p.E121fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 121 C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.E121fs*79(2) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGCGTGTCCTCCCCCCCGCCC 0.627 2 4 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17083100 17083100 + RNA DEL A A - TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8659a83-8562-4056-b28a-e588b68c0276 c92554d9-993d-4abf-933e-7435be040b38 g.chr22:17083100delA ENST00000426585.1 + 0 167 AGAGAGCCAGAAAGAAGTAAG 0.751 2 4 --- --- --- ---