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 SLC35D2 11046 broad.mit.edu 37 9 99126820 99126820 + Missense_Mutation SNP T T C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr9:99126820T>C ENST00000253270.7 - 3 267 c.205A>G c.(205-207)Ata>Gta p.I69V SLC35D2_ENST00000375257.1_Missense_Mutation_p.I69V|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375259.4_Missense_Mutation_p.I69V NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 69 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) AGTATCATTATGGTGGCTGCC 0.343000 15 63 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13653622 13653622 + Missense_Mutation SNP G G C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr10:13653622G>C ENST00000378572.3 + 6 678 c.518G>C c.(517-519)gGa>gCa p.G173A NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 173 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 CAGGCGCTTGGAGAGTCCTTA 0.433000 12 41 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241608 60241608 + Missense_Mutation SNP C C A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr18:60241608C>A ENST00000269499.5 + 13 2712 c.2294C>A c.(2293-2295)gCa>gAa p.A765E ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A444E NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 765 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AGGGAGTCTGCAAATTCAACC 0.478000 4 34 2.56e-06 2.8703e-06 1 1 0 IGHV1-58 28464 broad.mit.edu 37 14 107078514 107078514 + RNA SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr14:107078514G>A ENST00000390628.2 - 0 270 TGCCAACGACGATCCATCCTA 0.522000 7 113 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182027001 182027001 + Missense_Mutation SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:182027001C>T ENST00000339948.3 - 2 352 c.145G>A c.(145-147)Gct>Act p.A49T NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 ACCGGGTCAGCGGTGCCCTCT 0.552000 19 61 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2188861 2188861 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr7:2188861G>A ENST00000406869.1 - 11 1556 c.999C>T c.(997-999)gaC>gaT p.D333D MAD1L1_ENST00000399654.2_Silent_p.D333D|MAD1L1_ENST00000402746.1_Silent_p.D241D|MAD1L1_ENST00000265854.7_Silent_p.D333D Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 333 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ATCTGGAAAGGTCTTCTGGAG 0.547000 6 28 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93104354 93104354 + Missense_Mutation SNP G G C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr11:93104354G>C ENST00000298050.3 + 7 797 c.697G>C c.(697-699)Gct>Cct p.A233P NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 233 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) ACTGAAATCAGCTGTAAATGA 0.368000 7 16 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 4 34 0 0 1 0 0 IDH3A 3419 broad.mit.edu 37 15 78454590 78454590 + Silent SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr15:78454590C>T ENST00000299518.2 + 6 575 c.492C>T c.(490-492)gtC>gtT p.V164V IDH3A_ENST00000441490.2_Silent_p.V55V|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.V129V NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 164 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) TTGATGGAGTCGTGCAGAGTA 0.552000 10 50 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2160311 2160311 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr16:2160311G>A ENST00000262304.4 - 15 5065 c.4857C>T c.(4855-4857)tcC>tcT p.S1619S PKD1_ENST00000423118.1_Silent_p.S1619S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1619 PKD 11. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGTCCTGGGCGGAGCCCACCT 0.622000 5 85 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41483692 41483692 + Missense_Mutation SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:41483692C>T ENST00000359345.1 - 2 3148 c.572G>A c.(571-573)cGg>cAg p.R191Q SLFNL1_ENST00000439569.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R191Q|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R191Q NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 191 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) GCCGCTGGGCCGGCCCTGGCA 0.682000 5 12 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111493993 111493993 + Missense_Mutation SNP G G C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:111493993G>C ENST00000369763.4 - 2 1903 c.1513C>G c.(1513-1515)Cag>Gag p.Q505E RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TCTATGCTCTGGAGGACACTT 0.393000 6 134 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2973895 2973895 + Missense_Mutation SNP C C A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr12:2973895C>A ENST00000342628.2 - 7 1157 c.1044G>T c.(1042-1044)gaG>gaT p.E348D FOXM1_ENST00000361953.3_Missense_Mutation_p.E333D|FOXM1_ENST00000359843.3_Missense_Mutation_p.E348D NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 348 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TCCGGCGGAGCTCTGGATTCG 0.537000 11 140 0.00136819 0.00148892 1 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711734 155711734 + Missense_Mutation SNP C C A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr2:155711734C>A ENST00000295101.2 + 3 1892 c.1415C>A c.(1414-1416)cCa>cAa p.P472Q NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 472 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GATTTGCCACCAAAGCTTCAA 0.443000 3 29 1 1 1 1 0 SHC3 53358 broad.mit.edu 37 9 91657078 91657078 + Missense_Mutation SNP G G A rs112676570 byFrequency TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr9:91657078G>A ENST00000375835.4 - 10 1529 c.1223C>T c.(1222-1224)aCg>aTg p.T408M SHC3_ENST00000375830.1_De_novo_Start_InFrame NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 408 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CCCTTCTGGCGTGCTGTAGAT 0.567000 6 119 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123515050 123515050 + Missense_Mutation SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chrX:123515050C>T ENST00000422452.2 - 32 7598 c.7535G>A c.(7534-7536)cGg>cAg p.R2512Q STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R2505Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTCAAGGCACCGTCCATCATT 0.458000 39 43 0 0 1 0 0 MINPP1 9562 broad.mit.edu 37 10 89265179 89265179 + Silent SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr10:89265179C>T ENST00000371996.4 + 1 548 c.507C>T c.(505-507)ttC>ttT p.F169F MINPP1_ENST00000371994.4_Silent_p.F169F NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 169 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CGGCCCTTTTCAGCCGTGAGA 0.642000 OREG0020348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 44 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650297 55650297 + Silent SNP C C A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chrX:55650297C>A ENST00000339140.3 + 1 465 c.153C>A c.(151-153)gtC>gtA p.V51V NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 51 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 AATACAGAGTCGGAGTAATGA 0.527000 23 38 2.27525e-19 2.59029e-19 1 1 0 PIK3CD 5293 broad.mit.edu 37 1 9775731 9775731 + Missense_Mutation SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:9775731G>A ENST00000536656.1 + 4 482 c.274G>A c.(274-276)Gtg>Atg p.V92M PIK3CD_ENST00000377346.4_Missense_Mutation_p.V92M|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V92M O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 92 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) TCTGTGTGACGTGCAGCCCTT 0.617000 13 56 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807495 22807495 + Silent SNP G G T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr18:22807495G>T ENST00000361524.3 - 4 535 c.387C>A c.(385-387)cgC>cgA p.R129R ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.R129R NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 129 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGTAGCTGAGGCGGCTAAACG 0.517000 T PAX5 ALL 5 128 0.184627 0.189756 1 1 0 IFNA16 3449 broad.mit.edu 37 9 21217225 21217225 + Missense_Mutation SNP G G T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr9:21217225G>T ENST00000380216.1 - 1 85 c.80C>A c.(79-81)cCt>cAt p.P27H NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 27 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GTGAGTCTGAGGCAGATCACA 0.488000 4 125 0.00909568 0.00948 1 1 0 GHRHR 2692 broad.mit.edu 37 7 31014608 31014608 + Missense_Mutation SNP T T C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr7:31014608T>C ENST00000409904.3 + 6 901 c.643T>C c.(643-645)Tcc>Ccc p.S215P GHRHR_ENST00000409316.1_Missense_Mutation_p.L45P|GHRHR_ENST00000326139.2_Missense_Mutation_p.S279P|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 279 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GGACGACACCTCCCCCTACTG 0.582000 OREG0017943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 109 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4462969 4462969 + Missense_Mutation SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr17:4462969C>G ENST00000301395.3 - 2 286 c.227G>C c.(226-228)aGg>aCg p.R76T GGT6_ENST00000381550.3_Missense_Mutation_p.R76T|GGT6_ENST00000574154.1_Missense_Mutation_p.R76T|GGT6_ENST00000573591.1_5'UTR NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 76 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CTGGAGCTGCCTCACAGCCAG 0.692000 11 54 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12277092 12277092 + Nonsense_Mutation SNP C C T rs139964730 TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr10:12277092C>T ENST00000281141.4 + 8 815 c.535C>T c.(535-537)Cga>Tga p.R179* CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Nonsense_Mutation_p.R179* NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 179 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 GGCTGAGTTTCGATGTTTTGT 0.333000 22 66 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579419 58579419 + Nonsense_Mutation SNP G G T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr19:58579419G>T ENST00000506786.1 + 5 1995 c.1441G>T c.(1441-1443)Gaa>Taa p.E481* ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E523*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.E547*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.E523*|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E535* B4DHH9 B4DHH9_HUMAN zinc finger protein 135 535 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GAAGCCCTACGAATGCAACCA 0.537000 23 71 2.70639e-06 2.98915e-06 1 1 0 BRD4 23476 broad.mit.edu 37 19 15355538 15355538 + Missense_Mutation SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr19:15355538C>T ENST00000263377.2 - 12 2415 c.2194G>A c.(2194-2196)Ggg>Agg p.G732R NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 732 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TGCTCCCTCCCGGGGTGCCCC 0.582000 T C15orf55 lethal midline carcinoma of young people 12 193 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39802098 39802098 + Missense_Mutation SNP T T C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:39802098T>C ENST00000564288.1 + 37 10615 c.9838T>C c.(9838-9840)Tct>Cct p.S3280P MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3317P|MACF1_ENST00000289893.4_Missense_Mutation_p.S1720P|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3285P|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3285 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAAGGAGTGTCTCAAAAAGA 0.448000 36 95 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124421612 124421612 + Missense_Mutation SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr12:124421612G>A ENST00000545135.1 - 3 4234 c.938C>T c.(937-939)aCt>aTt p.T313I CCDC92_ENST00000238156.3_Missense_Mutation_p.T330I|CCDC92_ENST00000545891.1_Missense_Mutation_p.T313I|CCDC92_ENST00000544798.1_Intron Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 330 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GCTTCACACAGTTCTGTCCGT 0.632000 16 62 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186645077 186645077 + Nonsense_Mutation SNP C C A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:186645077C>A ENST00000367468.5 - 8 1346 c.1210G>T c.(1210-1212)Gga>Tga p.G404* PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 404 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TGGGTAATTCCATGTTCCAGC 0.373000 4 66 0.00909568 0.00948 1 1 0 CLUH 23277 broad.mit.edu 37 17 2601293 2601293 + Missense_Mutation SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr17:2601293C>T ENST00000570628.1 - 10 1849 c.1744G>A c.(1744-1746)Gag>Aag p.E582K CLUH_ENST00000538975.1_Missense_Mutation_p.E582K|CLUH_ENST00000575014.1_Missense_Mutation_p.E514K|CLUH_ENST00000435359.1_Missense_Mutation_p.E582K clustered mitochondria (cluA/CLU1) homolog GGCAGCTCCTCGCCAGGCACG 0.692000 3 7 0 0 1 0 0 FCN3 8547 broad.mit.edu 37 1 27695886 27695886 + Silent SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:27695886C>G ENST00000270879.4 - 8 746 c.741G>C c.(739-741)gtG>gtC p.V247V FCN3_ENST00000354982.2_Silent_p.V236V NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 247 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGTGGACAATCACTGCACAGT 0.542000 16 69 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102698092 102698092 + Silent SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr14:102698092C>T ENST00000361847.2 - 10 1164 c.933G>A c.(931-933)ccG>ccA p.P311P MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Intron|MOK_ENST00000524214.1_Silent_p.P281P|MOK_ENST00000523231.1_Intron|MOK_ENST00000522867.1_Intron|MOK_ENST00000522534.1_Intron|MOK_ENST00000522874.1_Silent_p.P310P|MOK_ENST00000561150.1_Intron|MOK_ENST00000524370.1_Intron|MOK_ENST00000519058.1_Intron|MOK_ENST00000517966.1_Intron NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 311 signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding TGAGTGGTTCCGGTGCCACAG 0.577000 10 201 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176833488 176833488 + Silent SNP T T G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:176833488T>G ENST00000367654.2 - 23 3854 c.3841A>C c.(3841-3843)Agg>Cgg p.R1281R ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.R1273R O14525 ASTN1_HUMAN astrotactin 1 1281 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACGTCTTCCTGAGGTCCCGG 0.577000 5 108 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42801322 42801322 + Nonsense_Mutation SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr5:42801322G>A ENST00000514985.1 - 5 902 c.646C>T c.(646-648)Cag>Tag p.Q216* SEPP1_ENST00000509276.1_5'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_Silent_p.I105I|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.Q216*|SEPP1_ENST00000506577.1_Nonsense_Mutation_p.Q216* NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 216 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 CCAAGGTGCTGATGTCCATGA 0.463000 20 74 0 0 1 0 0 SEC22A 26984 broad.mit.edu 37 3 122928127 122928127 + Silent SNP T T C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr3:122928127T>C ENST00000309934.4 + 1 959 c.63T>C c.(61-63)tcT>tcC p.S21S SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Silent_p.S21S|SEC22A_ENST00000481965.2_Silent_p.S21S NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 21 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) TTTCTGCTTCTACTGATTATG 0.378000 3 75 0 0 1 0 0 HAND1 9421 broad.mit.edu 37 5 153855462 153855462 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr5:153855462G>A ENST00000231121.2 - 2 807 c.552C>T c.(550-552)caC>caT p.H184H NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 184 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GAAAACCTTCGTGCTGCTGCT 0.572000 6 54 0 0 1 0 0 PUS10 150962 broad.mit.edu 37 2 61180204 61180204 + Silent SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr2:61180204C>T ENST00000316752.6 - 15 1497 c.1236G>A c.(1234-1236)aaG>aaA p.K412K PUS10_ENST00000407787.1_Silent_p.K412K NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 412 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) CACTGTAGGTCTTTGTCTTTT 0.299000 15 123 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23871948 23871948 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr14:23871948G>A ENST00000405093.3 - 11 1030 c.960C>T c.(958-960)tcC>tcT p.S320S MYH6_ENST00000356287.3_Silent_p.S320S NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 320 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGAGGCCACGGACACCTCTC 0.652000 14 43 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69002469 69002469 + Missense_Mutation SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr2:69002469G>A ENST00000295381.3 + 2 597 c.178G>A c.(178-180)Gtg>Atg p.V60M ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V60M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V53M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.V34M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V60M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000456116.2_3'UTR NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 60 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GAGGTCCATCGTGAAGAACTG 0.582000 6 205 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197559098 197559098 + Nonsense_Mutation SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr3:197559098C>T ENST00000438796.2 + 8 1056 c.1012C>T c.(1012-1014)Cga>Tga p.R338* LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R212*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R338*|LRCH3_ENST00000536618.1_5'UTR Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 338 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TCTGCCTCTTCGAGTAGCAGA 0.408000 4 76 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122928585 122928585 + Missense_Mutation SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr11:122928585C>G ENST00000534624.1 - 9 2074 c.1798G>C c.(1798-1800)Gag>Cag p.E600Q HSPA8_ENST00000526110.1_Missense_Mutation_p.E581Q|HSPA8_ENST00000534319.1_Missense_Mutation_p.E364Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E454Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E600Q|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.E600Q NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 600 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CAAACTTTCTCCAGCTCTTTC 0.468000 4 101 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427145 38427145 + Silent SNP T T C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr5:38427145T>C ENST00000322350.5 + 14 2191 c.1845T>C c.(1843-1845)tcT>tcC p.S615S EGFLAM_ENST00000336740.6_Silent_p.S381S|EGFLAM_ENST00000354891.3_Silent_p.S615S|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 615 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TCAGAGAGTCTCTGAGATCTT 0.493000 4 121 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073002 15073002 + Missense_Mutation SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr19:15073002C>G ENST00000598504.1 - 8 2106 c.747G>C c.(745-747)gaG>gaC p.E249D SLC1A6_ENST00000430939.2_Missense_Mutation_p.E185D|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E249D|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E249D|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E249D NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 249 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AGCTCAGCATCTCCTGCAGGG 0.602000 4 90 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150498790 150498790 + Missense_Mutation SNP G G T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr7:150498790G>T ENST00000484928.1 + 2 733 c.152G>T c.(151-153)aGc>aTc p.S51I TMEM176A_ENST00000004103.3_Missense_Mutation_p.S51I|TMEM176A_ENST00000461345.1_Intron Q96HP8 T176A_HUMAN transmembrane protein 176A 51 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGGCAGCAGCCGGCTGCTG 0.706000 4 11 1 1 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 55 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382599 22382599 + Missense_Mutation SNP T T G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr15:22382599T>G ENST00000328795.4 + 1 218 c.127T>G c.(127-129)Ttt>Gtt p.F43V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCCTGGAAATTTTCTCATTAT 0.438000 5 101 0 0 1 0 0 EMC1 23065 broad.mit.edu 37 1 19547305 19547305 + Silent SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:19547305C>T ENST00000477853.1 - 21 2667 c.2625G>A c.(2623-2625)aaG>aaA p.K875K EMC1_ENST00000375199.3_Silent_p.K874K|EMC1_ENST00000375208.3_Silent_p.K853K|EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 CCAGCAAAGCCTTAGGAAGGG 0.512000 11 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179571293 179571293 + Nonsense_Mutation SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr2:179571293G>A ENST00000589042.1 - 102 29532 c.29308C>T c.(29308-29310)Cga>Tga p.R9770* TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8526*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9453* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9453 Ig-like 79. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R8526R(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCACGCATCGGTATAACCCA 0.418000 7 111 0 0 1 0 0 SMAD6 4091 broad.mit.edu 37 15 67073336 67073336 + Splice_Site SNP C C T TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr15:67073336C>T ENST00000288840.5 + 4 1985 c.952_splice c.e4-1 p.D318_splice SMAD6_ENST00000338426.4_Splice_Site_p.D57_splice NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 318 BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 GTCCCGCAGACGCCAGCATGT 0.687000 4 6 0 0 1 0 0 NIPSNAP3B 55335 broad.mit.edu 37 9 107531143 107531143 + Splice_Site SNP G G C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr9:107531143G>C ENST00000374762.3 + 3 342 c.e3-1 NIPSNAP3B_ENST00000461177.1_Splice_Site NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 TCCTCCCATAGATAATTTTGC 0.358000 6 27 0 0 1 0 0 RFX5 5993 broad.mit.edu 37 1 151315105 151315105 + Silent SNP G G T rs79106593 TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr1:151315105G>T ENST00000290524.4 - 11 1586 c.1408C>A c.(1408-1410)Cga>Aga p.R470R RFX5_ENST00000452671.2_Silent_p.R470R|RFX5_ENST00000452513.2_Silent_p.R430R|RFX5_ENST00000368870.2_Silent_p.R470R NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 470 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GACTTTTTTCGAGGGCGCCCC 0.537000 92 332 6.7531e-64 7.80827e-64 1 1 0 CDC42EP4 23580 broad.mit.edu 37 17 71281908 71281908 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr17:71281908G>A ENST00000335793.3 - 2 1126 c.732C>T c.(730-732)ggC>ggT p.G244G CDC42EP4_ENST00000439510.2_Silent_p.G174G|CDC42EP4_ENST00000581014.1_Intron Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 244 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TGCCAGCGGCGCCCTCATCGC 0.692000 3 43 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41577280 41577280 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr8:41577280G>A ENST00000396942.1 - 10 1089 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L ANK1_ENST00000396945.1_Silent_p.L336L|ANK1_ENST00000265709.8_Silent_p.L369L|ANK1_ENST00000289734.7_Silent_p.L336L|ANK1_ENST00000352337.4_Silent_p.L336L|ANK1_ENST00000347528.4_Silent_p.L336L|ANK1_ENST00000379758.2_Silent_p.L336L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 336 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AGGTGGTCCAGGGTGATGTCG 0.602000 12 192 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74068416 74068416 + Missense_Mutation SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr17:74068416C>G ENST00000307877.2 - 1 318 c.157G>C c.(157-159)Gaa>Caa p.E53Q SRP68_ENST00000539137.1_Missense_Mutation_p.E53Q|SRP68_ENST00000355113.5_Intron NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 53 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 TCCCCAAATTCTTTGTTTGCC 0.587000 6 568 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101608996 101608996 + Silent SNP T T C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr8:101608996T>C ENST00000311812.2 - 10 999 c.849A>G c.(847-849)gaA>gaG p.E283E SNX31_ENST00000428383.2_Silent_p.E184E NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 283 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAGAGCCTGATTCTGGGTAGT 0.542000 11 161 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79465561 79465561 + Silent SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr9:79465561C>G ENST00000376718.3 - 3 285 c.162G>C c.(160-162)ctG>ctC p.L54L PRUNE2_ENST00000376713.3_Silent_p.L54L|PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 54 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGGTAAACACAGAACCCCTG 0.393000 10 65 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40827960 40827960 + Missense_Mutation SNP C C G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr19:40827960C>G ENST00000582783.1 - 9 1110 c.1098G>C c.(1096-1098)caG>caC p.Q366H C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.Q299H NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 366 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCTGGCTGTCCTGGGCCTCGG 0.617000 10 53 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210993802 210993802 + Nonsense_Mutation SNP T T A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr2:210993802T>A ENST00000281772.9 - 3 1446 c.1183A>T c.(1183-1185)Aaa>Taa p.K395* KANSL1L_ENST00000452086.1_Nonsense_Mutation_p.K395*|KANSL1L_ENST00000457374.1_Nonsense_Mutation_p.K395*|KANSL1L_ENST00000418791.1_Nonsense_Mutation_p.K395* NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 395 TGTTGGATTTTGCATTCTAGG 0.408000 4 92 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36596713 36596713 + Missense_Mutation SNP A A G TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr11:36596713A>G ENST00000299440.5 + 2 1971 c.1859A>G c.(1858-1860)gAa>gGa p.E620G NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 620 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GTAGTTCCAGAAAAGGCAGTC 0.453000 Familial Hemophagocytic Lymphohistiocytosis 11 27 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16996429 16996429 + Missense_Mutation SNP G G C TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr10:16996429G>C ENST00000377833.4 - 32 4879 c.4814C>G c.(4813-4815)cCt>cGt p.P1605R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1605 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTGTCTGGAAGGGCCAGACTG 0.542000 29 144 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 63 0 0 1 0 0 TCF3 6929 broad.mit.edu 37 19 1615558 1615558 + Silent SNP G G A TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr19:1615558G>A ENST00000395423.3 - 14 1587 c.1560C>T c.(1558-1560)caC>caT p.H520H TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron P15923 TFE2_HUMAN transcription factor 3 533 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGAGACAGTGAGGTTGGG 0.697000 T """PBX1, HLF, TFPT""" pre B-ALL 10 32 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 6 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 5 8 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 105918247 105918247 + RNA DEL T T - rs140898060 TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr4:105918247delT ENST00000506386.1 + 0 71 ttttttttccttttttttttt 0.318 3 5 --- --- --- --- PNPLA8 50640 broad.mit.edu 37 7 108154676 108154676 + Frame_Shift_Del DEL G G - TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr7:108154676delG ENST00000426128.2 - 3 1243 c.1118delC c.(1117-1119)aafs p.T374fs PNPLA8_ENST00000422087.1_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.T274fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.T374fs NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 374 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TGGGTCAGTTGTTCTTCTTAA 0.368 77 278 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 8 86 --- --- --- --- ZNF155 7711 broad.mit.edu 37 19 44500969 44500977 + In_Frame_Del DEL ATGTGATAA ATGTGATAA - TCGA-MZ-A6I9-01A-11D-A31L-08 TCGA-MZ-A6I9-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9b2f860-d5cb-4cca-884e-3116ade975e9 55a32649-2438-4b3c-bd15-1deebb5b9f7b g.chr19:44500969_44500977delATGTGATAA ENST00000270014.2 + 5 1088_1096 c.960_968delATGTGATAA c.(958-969)acg>ac p.TCDK320del ZNF155_ENST00000407951.2_In_Frame_Del_p.TCDK331del|ZNF155_ENST00000590615.1_In_Frame_Del_p.TCDK320del NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 320 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GGTGTGATACATGTGATAAGAGCTTTCAT 0.407 18 102 --- --- --- ---