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 CSPG4 1464 broad.mit.edu 37 15 75982533 75982533 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:75982533G>A ENST00000308508.5 - 3 965 c.873C>T c.(871-873)atC>atT p.I291I NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 291 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGTGAGCATTGATGTGGACAC 0.617000 12 34 0 0 0.411799 0 0 FNDC1 84624 broad.mit.edu 37 6 159653679 159653679 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:159653679C>T ENST00000297267.9 + 11 2335 c.2135C>T c.(2134-2136)gCc>gTc p.A712V FNDC1_ENST00000340366.6_Missense_Mutation_p.A649V NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 712 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GATTCCAGTGCCTCAGCCCCA 0.657000 8 12 0 0 0.278610 0 0 GJD4 219770 broad.mit.edu 37 10 35896723 35896723 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:35896723C>G ENST00000321660.1 + 2 440 c.282C>G c.(280-282)gtC>gtG p.V94V NM_153368.2 NP_699199.2 Q96KN9 CXD4_HUMAN gap junction protein, delta 4, 40.1kDa 94 cell communication connexon complex|integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TCTTCAGCGTCTATGTCCTGC 0.716000 22 20 0 0 0.639603 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 56 0 0 0.184627 0 0 C1orf227 149643 broad.mit.edu 37 1 213009314 213009314 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:213009314C>G ENST00000332912.3 - 2 285 c.178G>C c.(178-180)Gat>Cat p.D60H NM_001024601.2 NP_001019772.1 Q537H7 CA227_HUMAN chromosome 1 open reading frame 227 60 kidney(1)|large_intestine(1)|lung(1) 3 GTTGTGGTATCAGTAAAGGAC 0.483000 30 91 0 0 0.769981 0 0 OR2K2 26248 broad.mit.edu 37 9 114090514 114090514 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:114090514G>C ENST00000374428.1 - 1 286 c.287C>G c.(286-288)tCt>tGt p.S96C OR2K2_ENST00000302681.1_Missense_Mutation_p.S67C Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S67C(1)|p.S96C(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 ATCCATGAAAGAGAGATTTCC 0.418000 25 44 0 0 0.693898 0 0 MAB21L3 126868 broad.mit.edu 37 1 116666715 116666715 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:116666715C>A ENST00000369500.3 + 4 483 c.218C>A c.(217-219)aCa>aAa p.T73K MAB21L3_ENST00000464946.1_3'UTR NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 73 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TTCCTCGTCACAGTCCCAATA 0.577000 24 65 2.44723e-14 2.64214e-14 0.681144 1 0 PLD1 5337 broad.mit.edu 37 3 171323140 171323140 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:171323140G>C ENST00000356327.5 - 25 2905 c.2835C>G c.(2833-2835)ttC>ttG p.F945L PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.F983L NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 983 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACACCTCCTTGAAGAATTTGT 0.443000 33 95 0 0 0.779181 0 0 HAO2 51179 broad.mit.edu 37 1 119927521 119927521 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:119927521C>T ENST00000361035.4 + 5 728 c.445C>T c.(445-447)Cag>Tag p.Q149* HAO2_ENST00000325945.3_Nonsense_Mutation_p.Q136* NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 136 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TCCAGACCTGCAGCTGAACAA 0.478000 23 59 0 0 0.654019 0 0 PCDH15 65217 broad.mit.edu 37 10 55912906 55912906 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:55912906C>A ENST00000373965.2 - 15 2153 c.1759G>T c.(1759-1761)Gca>Tca p.A587S PCDH15_ENST00000373955.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A580S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A191S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A558S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A558S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A580S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A580S|PCDH15_ENST00000320301.6_Missense_Mutation_p.A580S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A587S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A543S|PCDH15_ENST00000395446.1_Missense_Mutation_p.A580S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A585S NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 580 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCGTGAGTGCGTAAGTCCGC 0.488000 HNSCC(58;0.16) 12 31 0.000978159 0.00100705 0.387290 1 0 BMPER 168667 broad.mit.edu 37 7 34118611 34118611 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:34118611C>G ENST00000297161.2 + 13 1595 c.1221C>G c.(1219-1221)aaC>aaG p.N407K BMPER_ENST00000426693.1_Missense_Mutation_p.N407K NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 407 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.N407N(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGGTGAAGAACGACGCCCGCC 0.607000 49 88 0 0 0.870114 0 0 SEL1L 6400 broad.mit.edu 37 14 81952776 81952776 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:81952776C>T ENST00000336735.4 - 17 1771 c.1655G>A c.(1654-1656)cGa>cAa p.R552Q NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 552 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) CCAACGGCCTCGTTCACATAC 0.413000 34 106 0 0 0.804634 0 0 NACA 4666 broad.mit.edu 37 12 57113755 57113755 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:57113755C>A ENST00000454682.1 - 3 1840 c.1559G>T c.(1558-1560)aGt>aTt p.S520I NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S520I NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CAATACTGAACTGGGGAGATT 0.507000 T BCL6 NHL 22 22 3.10358e-05 3.22244e-05 0.624587 1 0 ZNF555 148254 broad.mit.edu 37 19 2853240 2853240 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:2853240G>C ENST00000334241.4 + 4 1315 c.1177G>C c.(1177-1179)Gag>Cag p.E393Q ZNF555_ENST00000591539.1_Missense_Mutation_p.E392Q|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) TCATGGTGGAGAGAAACCCTA 0.493000 11 23 0 0 0.387290 0 0 CDH26 60437 broad.mit.edu 37 20 58547156 58547156 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:58547156G>T ENST00000348616.4 + 4 671 c.371G>T c.(370-372)cGa>cTa p.R124L CDH26_ENST00000244047.5_Missense_Mutation_p.R124L NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 124 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCTGTCGATCGAGAAATGACA 0.383000 15 49 3.52763e-06 3.70212e-06 0.520397 1 0 STX7 8417 broad.mit.edu 37 6 132785161 132785161 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:132785161G>A ENST00000367941.2 - 9 777 c.664C>T c.(664-666)Cag>Tag p.Q222* STX7_ENST00000367937.4_Nonsense_Mutation_p.Q222* NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 222 t-SNARE coiled-coil homology. intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) GACAGCTGCTGATTTGCTTGC 0.378000 30 101 0 0 0.796494 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743390 102743390 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:102743390G>C ENST00000210633.3 + 14 2112 c.2034G>C c.(2032-2034)gtG>gtC p.V678V MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Silent_p.V673V|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 673 cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CACCTGATGTGAGACTGCTCT 0.637000 3 21 0 0 0.248553 0 0 BICC1 80114 broad.mit.edu 37 10 60272997 60272997 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:60272997G>A ENST00000373886.3 + 1 98 c.94G>A c.(94-96)Gag>Aag p.E32K NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 32 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 GCCCGGCTCCGAGGACGACTT 0.697000 13 18 0 0 0.500413 0 0 NOL8 55035 broad.mit.edu 37 9 95062221 95062221 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:95062221C>G ENST00000545558.1 - 14 3745 c.3253G>C c.(3253-3255)Gaa>Caa p.E1085Q NOL8_ENST00000358855.4_Missense_Mutation_p.E1017Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E1085Q|NOL8_ENST00000535387.1_Missense_Mutation_p.E1047Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E1017Q Q76FK4 NOL8_HUMAN nucleolar protein 8 1085 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TCTTCCTCTTCTGAACTGCTG 0.388000 57 185 0 0 0.870114 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225674 26225674 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:26225674G>A ENST00000360408.1 + 1 292 c.292G>A c.(292-294)Gag>Aag p.E98K NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GGAGGCCTGCGAGGCCTACTT 0.592000 OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 42 0 0 0.557998 0 0 HFM1 164045 broad.mit.edu 37 1 91813030 91813030 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:91813030A>G ENST00000370425.3 - 19 2308 c.2210T>C c.(2209-2211)tTt>tCt p.F737S HFM1_ENST00000370424.3_Missense_Mutation_p.F416S|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 737 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCCAGATGCAAAACCTGCATG 0.303000 8 36 0 0 0.307466 0 0 DLG2 1740 broad.mit.edu 37 11 83984284 83984284 + Missense_Mutation SNP A A C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:83984284A>C ENST00000418306.2 - 1 39 c.15T>G c.(13-15)agT>agG p.S5R DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.S5R|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000543673.1_Intron NM_001142700.1 NP_001136172.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCCGAGAAACACTTGGCCGTT 0.388000 5 3 0 0 0.184627 0 0 OR4A16 81327 broad.mit.edu 37 11 55111514 55111514 + Missense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:55111514T>A ENST00000314721.2 + 1 888 c.838T>A c.(838-840)Ttg>Atg p.L280M NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CACACTCATGTTGAATCCTTT 0.318000 13 54 0 0 0.435327 0 0 TPTE 7179 broad.mit.edu 37 21 10951399 10951399 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:10951399C>T ENST00000298232.7 - 9 626 c.259G>A c.(259-261)Gat>Aat p.D87N TPTE_ENST00000342420.5_Missense_Mutation_p.D67N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D105N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 105 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAGTGACATCCAGTAAGACC 0.328000 18 113 0 0 0.575678 0 0 VPS41 27072 broad.mit.edu 37 7 38812139 38812139 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:38812139C>G ENST00000310301.4 - 13 1165 c.1111G>C c.(1111-1113)Gaa>Caa p.E371Q VPS41_ENST00000395969.2_Missense_Mutation_p.E346Q NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 371 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TTCTTCTTTTCAAGGAGCCAG 0.363000 9 40 0 0 0.335167 0 0 ABRACL 58527 broad.mit.edu 37 6 139363855 139363855 + Splice_Site SNP G G C rs9495322 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:139363855G>C ENST00000367660.3 + 3 261 c.e3-1 NM_021243.2 NP_067066.1 Q9P1F3 CF115_HUMAN ABRA C-terminal like p.?(1) TCTCAAACTAGATGCTGATGG 0.358000 37 117 0 0 0.812448 0 0 NHS 4810 broad.mit.edu 37 X 17745088 17745088 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:17745088G>C ENST00000380060.3 + 6 3137 c.2799G>C c.(2797-2799)ttG>ttC p.L933F NHS_ENST00000398097.3_Missense_Mutation_p.L777F NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 933 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TAAATGACTTGAAAACAAATG 0.423000 82 19 0 0 0.870114 0 0 PRR14L 253143 broad.mit.edu 37 22 32100665 32100665 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:32100665T>C ENST00000327423.6 - 5 5993 c.5804A>G c.(5803-5805)tAt>tGt p.Y1935C PRR14L_ENST00000434485.1_Missense_Mutation_p.Y1935C|PRR14L_ENST00000397493.2_Missense_Mutation_p.Y1935C NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1935 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 GCTGGTGTTATATGTAGCTTC 0.493000 9 43 0 0 0.361761 0 0 SLC22A3 6581 broad.mit.edu 37 6 160864770 160864770 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:160864770C>T ENST00000392145.1 + 9 1536 c.1509C>T c.(1507-1509)atC>atT p.I503I SLC22A3_ENST00000275300.2_Silent_p.I502I O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 502 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CTCTGATCATCTTTGGTAAGA 0.393000 32 21 0 0 0.769981 0 0 MFSD2B 388931 broad.mit.edu 37 2 24247130 24247130 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:24247130G>T ENST00000338315.4 + 13 1479 c.1479G>T c.(1477-1479)ctG>ctT p.L493L MFSD2B_ENST00000406420.3_Silent_p.L493L A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 493 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 CCAGCCGGCTGAGCCTTCGGA 0.647000 7 1 0.000157383 0.000163064 0.278610 1 0 PGR 5241 broad.mit.edu 37 11 100933223 100933223 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:100933223C>T ENST00000325455.5 - 4 3620 c.2167G>A c.(2167-2169)Gag>Aag p.E723K PGR_ENST00000534013.1_Missense_Mutation_p.E129K|PGR_ENST00000263463.5_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 723 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AGTTGCCTCTCGCCTAGTTGA 0.358000 26 56 0 0 0.667858 0 0 CASC1 55259 broad.mit.edu 37 12 25274696 25274696 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:25274696C>T ENST00000354189.5 - 11 1439 c.1404G>A c.(1402-1404)atG>atA p.M468I CASC1_ENST00000545133.1_Missense_Mutation_p.M345I|CASC1_ENST00000395990.2_Missense_Mutation_p.M364I|CASC1_ENST00000395987.3_Missense_Mutation_p.M410I|CASC1_ENST00000537577.1_Missense_Mutation_p.M292I|CASC1_ENST00000320267.9_Missense_Mutation_p.M404I|CASC1_ENST00000557684.1_5'UTR NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 404 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) CTTCCACAATCATCCATCCCT 0.353000 22 46 0 0 0.592651 0 0 GARNL3 84253 broad.mit.edu 37 9 130119609 130119609 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:130119609G>C ENST00000373387.4 + 21 2399 c.2047G>C c.(2047-2049)Gag>Cag p.E683Q GARNL3_ENST00000314904.5_Missense_Mutation_p.E683Q|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.E661Q NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 683 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 TGTGGTGAATGAGAGCACAGG 0.507000 23 27 0 0 0.639603 0 0 IKZF1 10320 broad.mit.edu 37 7 50450284 50450284 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:50450284G>A ENST00000331340.3 + 5 623 c.468G>A c.(466-468)caG>caA p.Q156Q IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000440768.2_Silent_p.Q156Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 156 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CATTCACCCAGAAGGGCAACC 0.612000 """D,T""" BCL6 """ALL, DLBCL""" 5 25 0 0 0.184627 0 0 MYO7B 4648 broad.mit.edu 37 2 128354096 128354096 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:128354096C>T ENST00000389524.4 + 19 2357 c.2304C>T c.(2302-2304)ctC>ctT p.L768L MYO7B_ENST00000409816.2_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L Q6PIF6 MYO7B_HUMAN myosin VIIB 768 IQ 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GAGCGGCGCTCAGCATCCAGA 0.627000 3 12 0 0 0.115264 0 0 DNAH7 56171 broad.mit.edu 37 2 196673414 196673414 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:196673414C>T ENST00000312428.6 - 53 10175 c.10075G>A c.(10075-10077)Gat>Aat p.D3359N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3359 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCAAACTATCATATACTTTC 0.323000 21 94 0 0 0.592651 0 0 PBX3 5090 broad.mit.edu 37 9 128678148 128678148 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:128678148G>A ENST00000373487.4 + 3 538 c.458G>A c.(457-459)aGa>aAa p.R153K PBX3_ENST00000373489.5_Missense_Mutation_p.R153K|PBX3_ENST00000447726.2_Missense_Mutation_p.R78K|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Missense_Mutation_p.R153K P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 153 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 TCAGATTACAGAGCCAAATTG 0.507000 31 99 0 0 0.717897 0 0 RNF10 9921 broad.mit.edu 37 12 120995255 120995255 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:120995255G>C ENST00000325954.4 + 5 1277 c.816G>C c.(814-816)aaG>aaC p.K272N RNF10_ENST00000413266.2_Missense_Mutation_p.K272N NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 272 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGTGCATAAGAAGGATCTCA 0.443000 34 81 0 0 0.779181 0 0 ADH4 127 broad.mit.edu 37 4 100062796 100062796 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:100062796A>G ENST00000508393.1 - 4 380 c.215T>C c.(214-216)gTt>gCt p.V72A RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V72A|ADH4_ENST00000265512.7_Missense_Mutation_p.V53A|ADH4_ENST00000423445.1_Missense_Mutation_p.V72A|ADH4_ENST00000504581.1_5'UTR P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 53 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) AGAATCGATAACAGTGGCATC 0.443000 18 32 0 0 0.539581 0 0 DIDO1 11083 broad.mit.edu 37 20 61511034 61511034 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:61511034C>G ENST00000266070.4 - 16 6599 c.6274G>C c.(6274-6276)Gac>Cac p.D2092H DIDO1_ENST00000395343.1_Missense_Mutation_p.D2092H NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2092 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGCCCCACGTCAAACCGCTCT 0.672000 42 270 0 0 0.840704 0 0 SYCP2 10388 broad.mit.edu 37 20 58441392 58441392 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:58441392C>G ENST00000357552.3 - 41 4501 c.4276G>C c.(4276-4278)Gaa>Caa p.E1426Q SYCP2_ENST00000371001.2_Missense_Mutation_p.E1426Q Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1426 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.E1426K(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GAATCTTTTTCAAAATTCTCC 0.234000 14 60 0 0 0.520397 0 0 CEP128 145508 broad.mit.edu 37 14 81209426 81209426 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:81209426C>T ENST00000555265.1 - 19 3174 c.2799G>A c.(2797-2799)gaG>gaA p.E933E CEP128_ENST00000281129.3_Silent_p.E933E Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 933 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CACCTCTCTTCTCACGATGTA 0.378000 18 86 0 0 0.592651 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617356 111617356 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:111617356G>A ENST00000374667.3 - 1 1883 c.855C>T c.(853-855)gaC>gaT p.D285D NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 285 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton p.D285E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGAGTTTGCCGTCCGGGAGCT 0.642000 78 30 0 0 0.870114 0 0 ATF6B 1388 broad.mit.edu 37 6 32087660 32087660 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:32087660C>T ENST00000375201.4 - 9 943 c.898G>A c.(898-900)Gag>Aag p.E300K ATF6B_ENST00000375203.3_Missense_Mutation_p.E303K Q99941 ATF6B_HUMAN activating transcription factor 6 beta 303 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 CTCTTCCTCTCAGGCCGTGGT 0.592000 13 33 0 0 0.435327 0 0 XKR7 343702 broad.mit.edu 37 20 30584930 30584930 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:30584930G>A ENST00000217299.3 + 3 1584 c.1410G>A c.(1408-1410)acG>acA p.T470T NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 470 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACGCCATCACGAGTCCCCCCA 0.682000 14 25 0 0 0.479597 0 0 RAB31 11031 broad.mit.edu 37 18 9708423 9708423 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:9708423C>G ENST00000578921.1 + 1 262 c.21C>G c.(19-21)ctC>ctG p.L7L NM_006868.3 NP_006859.2 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 6 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1) 10 TACGGGAGCTCAAAGTGTGCC 0.746000 4 18 0 0 0.248553 0 0 SNHG14 104472715 broad.mit.edu 37 15 25453133 25453133 + RNA SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:25453133T>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 GCACTGAAGCTCAGGCCCTTC 0.622000 4 43 0 0 0.150653 0 0 PTPRT 11122 broad.mit.edu 37 20 40980903 40980903 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:40980903G>A ENST00000373198.3 - 10 1818 c.1583C>T c.(1582-1584)tCg>tTg p.S528L PTPRT_ENST00000356100.2_Missense_Mutation_p.S528L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S528L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S528L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 528 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGGTCCAGCGAGCCGACAGC 0.532000 10 48 0 0 0.435327 0 0 SCN3A 6328 broad.mit.edu 37 2 165984368 165984368 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:165984368C>G ENST00000360093.3 - 18 3657 c.3166G>C c.(3166-3168)Gaa>Caa p.E1056Q SCN3A_ENST00000283254.7_Missense_Mutation_p.E1056Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1007Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1056 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTGCTTATTTCAATTCCAGTA 0.373000 16 58 0 0 0.520397 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579633 35579633 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:35579633G>C ENST00000373330.1 + 11 2376 c.2202G>C c.(2200-2202)aaG>aaC p.K734N ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.K734N Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 734 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGAATTCAAGAAAGAAGAAC 0.323000 12 47 0 0 0.387290 0 0 ASMTL 8623 broad.mit.edu 37 X 1546872 1546872 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:1546872C>G ENST00000534940.1 - 7 703 c.478G>C c.(478-480)Gag>Cag p.E160Q ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.E202Q|ASMTL_ENST00000416733.2_Missense_Mutation_p.E142Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.E218Q NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 218 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGCAGGTCCTCCGGACGGGGC 0.647000 16 40 0 0 0.539581 0 0 RAD51C 5889 broad.mit.edu 37 17 56770070 56770070 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:56770070G>A ENST00000337432.4 + 1 137 c.66G>A c.(64-66)gcG>gcA p.A22A RAD51C_ENST00000583539.1_Silent_p.A22A|RAD51C_ENST00000487921.1_Intron|RAD51C_ENST00000421782.2_Silent_p.A22A NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 22 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGTCTCCAGCGGTGCGGGTGA 0.587000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 37 16 0 0 0.804634 0 0 PDCD11 22984 broad.mit.edu 37 10 105174042 105174042 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:105174042T>C ENST00000369797.3 + 11 1420 c.1326T>C c.(1324-1326)gcT>gcC p.A442A NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 442 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTATTGAAGCTCAGTACCTTA 0.433000 16 28 0 0 0.500413 0 0 NAF1 92345 broad.mit.edu 37 4 164069513 164069513 + Nonsense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:164069513G>C ENST00000274054.2 - 3 807 c.614C>G c.(613-615)tCa>tGa p.S205* NAF1_ENST00000422287.2_Nonsense_Mutation_p.S205* NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 205 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) AATAATACTTGAAACCATCCC 0.284000 9 99 0 0 0.335167 0 0 FAM184A 79632 broad.mit.edu 37 6 119345734 119345734 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:119345734C>G ENST00000338891.7 - 2 847 c.404G>C c.(403-405)aGa>aCa p.R135T FAM184A_ENST00000352896.5_Missense_Mutation_p.R15T|FAM184A_ENST00000368475.4_Missense_Mutation_p.R15T|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R15T|FAM184A_ENST00000521531.1_Missense_Mutation_p.R135T NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 135 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GTCCTCAACTCTGTGCTTATA 0.378000 25 42 0 0 0.681144 0 0 UNC13C 440279 broad.mit.edu 37 15 54305292 54305292 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:54305292G>T ENST00000545554.1 + 1 192 c.192G>T c.(190-192)aaG>aaT p.K64N UNC13C_ENST00000537900.1_Missense_Mutation_p.K64N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K64N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 64 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCACTGTAAAGAAGATTGCAA 0.423000 9 47 0.00448238 0.00457615 0.307466 1 0 AUTS2 26053 broad.mit.edu 37 7 70252204 70252204 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:70252204C>G ENST00000342771.4 + 18 2639 c.2318C>G c.(2317-2319)tCa>tGa p.S773* AUTS2_ENST00000406775.2_Nonsense_Mutation_p.S749* NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 773 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCACCCAACTCAATGTTCGGC 0.473000 7 21 0 0 0.248553 0 0 TSKS 60385 broad.mit.edu 37 19 50243129 50243129 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:50243129G>A ENST00000246801.3 - 11 1765 c.1683C>T c.(1681-1683)ctC>ctT p.L561L TSKS_ENST00000358830.3_Silent_p.L361L NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 561 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCAGGTTGCTGAGATGATCGT 0.587000 31 75 0 0 0.750413 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926553 130926553 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:130926553G>A ENST00000261655.4 - 8 1456 c.1293C>T c.(1291-1293)atC>atT p.I431I RIMBP2_ENST00000535703.1_Silent_p.I339I|RIMBP2_ENST00000536002.1_Silent_p.I339I NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 431 Fibronectin type-III 2. cell junction|synapse p.I431I(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGGCCTTGACGATGTCGAACT 0.567000 11 51 0 0 0.411799 0 0 TTC17 55761 broad.mit.edu 37 11 43411297 43411297 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:43411297C>G ENST00000039989.4 + 3 359 c.345C>G c.(343-345)atC>atG p.I115M TTC17_ENST00000299240.6_Missense_Mutation_p.I115M NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 115 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CAGACTGCATCAAAGCCAAGG 0.398000 27 134 0 0 0.706142 0 0 ACTN3 89 broad.mit.edu 37 11 66328070 66328070 + RNA SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:66328070C>G ENST00000513398.1 + 0 1801 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 ACGATCAGTTCAAGGCAACAC 0.607000 19 37 0 0 0.624587 0 0 AKT1 207 broad.mit.edu 37 14 105241317 105241317 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:105241317G>A ENST00000554581.1 - 6 2071 c.591C>T c.(589-591)acC>acT p.T197T AKT1_ENST00000554848.1_Silent_p.T197T|AKT1_ENST00000544168.1_Silent_p.T135T|AKT1_ENST00000555528.1_Silent_p.T197T|AKT1_ENST00000407796.2_Silent_p.T197T|AKT1_ENST00000402615.2_Silent_p.T197T|AKT1_ENST00000349310.3_Silent_p.T197T P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 197 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CGCGGTTCTCGGTGAGTGTGT 0.682000 1 Mis """breast, colorectal, ovarian, NSCLC""" 14 56 0 0 0.435327 0 0 ATRX 546 broad.mit.edu 37 X 76776376 76776376 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:76776376G>A ENST00000373344.5 - 34 7304 c.7090C>T c.(7090-7092)Ctc>Ttc p.L2364F ATRX_ENST00000395603.3_Missense_Mutation_p.L2326F|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2364 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GCCTCTGAGAGATTCATGTTC 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 21 12 0 0 0.681144 0 0 C7orf43 55262 broad.mit.edu 37 7 99753354 99753354 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:99753354C>T ENST00000316937.3 - 9 1520 c.1335G>A c.(1333-1335)cgG>cgA p.R445R C7orf43_ENST00000457641.1_Silent_p.R176R|C7orf43_ENST00000394035.2_Silent_p.R21R|C7orf43_ENST00000419841.1_Silent_p.R213R NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 445 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGCTGCCCTTCCGGGAAAAGC 0.657000 30 120 0 0 0.729181 0 0 RNASEH1 246243 broad.mit.edu 37 2 3599789 3599789 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:3599789C>T ENST00000315212.3 - 3 709 c.354G>A c.(352-354)atG>atA p.M118I NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 118 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) CGCTCGGCTTCATGTGCTTTG 0.517000 15 38 0 0 0.479597 0 0 MURC 347273 broad.mit.edu 37 9 103340680 103340680 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:103340680C>T ENST00000307584.5 + 1 320 c.255C>T c.(253-255)atC>atT p.I85I NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 85 cell differentiation|muscle organ development|transcription, DNA-dependent p.I85M(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) CAGGGCATATCATTAACAAAT 0.388000 25 67 0 0 0.681144 0 0 GRSF1 2926 broad.mit.edu 37 4 71701944 71701944 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:71701944C>A ENST00000254799.6 - 2 562 c.445G>T c.(445-447)Gtc>Ttc p.V149F GRSF1_ENST00000545193.1_Missense_Mutation_p.V31F|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 149 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) ATGAGAAAGACATCATCCACT 0.408000 3 45 0.115264 0.116699 0.115264 1 0 SCRN3 79634 broad.mit.edu 37 2 175264800 175264800 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:175264800G>A ENST00000272732.6 + 3 392 c.310G>A c.(310-312)Gaa>Aaa p.E104K SCRN3_ENST00000409673.3_Missense_Mutation_p.E97K NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 104 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) AGTTTGTGATGAAGAAGCACT 0.408000 38 126 0 0 0.847076 0 0 TMEM2 23670 broad.mit.edu 37 9 74347373 74347373 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:74347373C>G ENST00000377044.4 - 7 1996 c.1457G>C c.(1456-1458)gGa>gCa p.G486A TMEM2_ENST00000377066.5_Missense_Mutation_p.G423A NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 486 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GGTAAGAATTCCAACCTCAGC 0.428000 21 54 0 0 0.639603 0 0 ANO1 55107 broad.mit.edu 37 11 70028776 70028776 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:70028776G>A ENST00000355303.5 + 24 2877 c.2572G>A c.(2572-2574)Gag>Aag p.E858K ANO1_ENST00000398543.2_Missense_Mutation_p.E712K|ANO1_ENST00000538023.1_Missense_Mutation_p.E858K|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Missense_Mutation_p.E567K|ANO1_ENST00000530676.1_Missense_Mutation_p.E712K NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 858 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CCTGGGCTACGAGGTGCAGAT 0.587000 7 183 0 0 0.307466 0 0 OBSCN 84033 broad.mit.edu 37 1 228509435 228509435 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:228509435G>A ENST00000570156.2 + 66 17838 c.17764G>A c.(17764-17766)Gat>Aat p.D5922N OBSCN_ENST00000366709.4_Missense_Mutation_p.D2084N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2599N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4965N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D4965N NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4965 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGACCGTGCTGATGCTGGCTG 0.602000 22 76 0 0 0.608945 0 0 DACT3 147906 broad.mit.edu 37 19 47151925 47151925 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:47151925G>A ENST00000391916.2 - 4 1777 c.1704C>T c.(1702-1704)gaC>gaT p.D568D DACT3_ENST00000300875.4_Silent_p.D343D NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 568 lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) CACCGCTGCCGTCTGAGTCGC 0.736000 17 32 0 0 0.575678 0 0 SIVA1 10572 broad.mit.edu 37 14 105225821 105225821 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:105225821G>A ENST00000329967.6 + 4 629 c.527G>A c.(526-528)tGa>tAa p.*176* SIVA1_ENST00000347067.5_Silent_p.*111* NM_006427.3 NP_006418.2 O15304 SIVA_HUMAN SIVA1, apoptosis-inducing factor 0 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) TTCGAGACCTGAGGCTGGCTC 0.627000 4 23 0 0 0.217242 0 0 MICAL1 64780 broad.mit.edu 37 6 109771220 109771220 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:109771220C>T ENST00000368952.4 - 9 1607 c.1317G>A c.(1315-1317)gtG>gtA p.V439V MICAL1_ENST00000358577.3_Silent_p.V334V|MICAL1_ENST00000358807.3_Silent_p.V420V Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 420 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CCCACCGCTTCACCATCCAGG 0.612000 25 251 0 0 0.706142 0 0 OR52K1 390036 broad.mit.edu 37 11 4510323 4510323 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:4510323C>G ENST00000307632.3 + 1 215 c.193C>G c.(193-195)Ctg>Gtg p.L65V NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) GTACCTCTTTCTGGCCATGTT 0.488000 34 22 0 0 0.804634 0 0 CDC25B 994 broad.mit.edu 37 20 3782998 3782998 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:3782998G>A ENST00000245960.5 + 11 1866 c.1169G>A c.(1168-1170)cGa>cAa p.R390Q CDC25B_ENST00000340833.4_Missense_Mutation_p.R349Q|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R326Q|CDC25B_ENST00000439880.2_Missense_Mutation_p.R376Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R299Q NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 390 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 AGTGACCACCGAGAGCTGATT 0.567000 13 22 0 0 0.435327 0 0 TRIM51 84767 broad.mit.edu 37 11 55658863 55658863 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:55658863G>C ENST00000449290.2 + 7 1206 c.1114G>C c.(1114-1116)Gat>Cat p.D372H TRIM51_ENST00000244891.3_Missense_Mutation_p.D229H NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 372 B30.2/SPRY. intracellular zinc ion binding TGACAAGATAGATGGAGAGGA 0.443000 17 63 0 0 0.717897 0 0 TPTE 7179 broad.mit.edu 37 21 10951400 10951400 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:10951400C>T ENST00000298232.7 - 9 625 c.258G>A c.(256-258)ctG>ctA p.L86L TPTE_ENST00000342420.5_Silent_p.L66L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L104L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 104 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAGTGACATCCAGTAAGACCA 0.328000 18 113 0 0 0.575678 0 0 ACOT13 55856 broad.mit.edu 37 6 24698242 24698242 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:24698242T>C ENST00000537591.1 + 3 731 c.144T>C c.(142-144)gcT>gcC p.A48A ACOT13_ENST00000230048.4_Silent_p.A71A|ACOT13_ENST00000476436.1_3'UTR NM_001160094.1 NP_001153566.1 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 71 protein homotetramerization mitochondrion acyl-CoA thioesterase activity large_intestine(1) 1 CAACAATGGCTCTGCTATGCA 0.438000 15 41 0 0 0.500413 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945204 119945204 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:119945204C>T ENST00000297350.4 - 2 744 c.366G>A c.(364-366)agG>agA p.R122R NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 122 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GAGGGCAGCTCCTATGTTTCA 0.493000 11 31 0 0 0.411799 0 0 CYP4A11 1579 broad.mit.edu 37 1 47401219 47401219 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:47401219T>G ENST00000310638.4 - 5 642 c.611A>C c.(610-612)cAt>cCt p.H204P CYP4A11_ENST00000371905.1_Missense_Mutation_p.H204P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H204P|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.H100P NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 204 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GCTGCCCTGATGGCTGAAGGC 0.572000 17 59 0 0 0.539581 0 0 SYBU 55638 broad.mit.edu 37 8 110655123 110655123 + Silent SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:110655123A>G ENST00000399066.3 - 1 781 c.54T>C c.(52-54)tcT>tcC p.S18S SYBU_ENST00000424158.2_Silent_p.S26S|SYBU_ENST00000433638.1_Silent_p.S21S|SYBU_ENST00000408908.2_Silent_p.S21S|SYBU_ENST00000528647.1_Silent_p.S20S|SYBU_ENST00000419099.1_Silent_p.S20S|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000533171.1_Silent_p.S21S|SYBU_ENST00000422135.1_Silent_p.S21S|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000446070.2_Silent_p.S20S|SYBU_ENST00000276646.9_Silent_p.S21S|SYBU_ENST00000533895.1_Silent_p.S20S|SYBU_ENST00000440310.1_Silent_p.S21S|SYBU_ENST00000528331.1_Intron NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 21 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TTCGGCTTCGAGAAATCTCCT 0.478000 21 45 0 0 0.654019 0 0 MUC16 94025 broad.mit.edu 37 19 9084208 9084208 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:9084208A>G ENST00000397910.4 - 1 7810 c.7607T>C c.(7606-7608)aTt>aCt p.I2536T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2536 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCTGGTTCAATAGTTGATGC 0.507000 12 29 0 0 0.500413 0 0 KL 9365 broad.mit.edu 37 13 33627907 33627907 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:33627907C>T ENST00000380099.3 + 2 831 c.823C>T c.(823-825)Cat>Tat p.H275Y KL_ENST00000426690.2_5'UTR|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 275 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTCATAGGCTCATGCCAAAGT 0.413000 19 49 0 0 0.557998 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72953676 72953676 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:72953676C>T ENST00000421285.3 + 8 636 c.636C>T c.(634-636)aaC>aaT p.N212N NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 212 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 CGCTGCTGAACGCACACGTGA 0.582000 9 43 0 0 0.479597 0 0 RYR2 6262 broad.mit.edu 37 1 237947379 237947379 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:237947379G>A ENST00000366574.2 + 90 12684 c.12367G>A c.(12367-12369)Gag>Aag p.E4123K RYR2_ENST00000542537.1_Missense_Mutation_p.E4107K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4129K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4123 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTAGCAGAGAGCGTCCT 0.512000 19 24 0 0 0.557998 0 0 AADAT 51166 broad.mit.edu 37 4 170989840 170989840 + Splice_Site SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:170989840T>G ENST00000337664.4 - 8 1080 c.e8-2 AADAT_ENST00000353187.2_Splice_Site|AADAT_ENST00000515480.1_Splice_Site|AADAT_ENST00000509167.1_Splice_Site NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATTCTCAACCTACGTGGAAAG 0.363000 6 54 0 0 0.217242 0 0 KCNH1 3756 broad.mit.edu 37 1 210857055 210857055 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:210857055C>G ENST00000367007.4 - 11 2626 c.2457G>C c.(2455-2457)aaG>aaC p.K819N KCNH1_ENST00000271751.4_Missense_Mutation_p.K846N NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 846 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGTCCTCACTCTTCCCGCAAG 0.612000 18 62 0 0 0.520397 0 0 G2E3 55632 broad.mit.edu 37 14 31081542 31081542 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:31081542C>G ENST00000206595.6 + 13 1784 c.1630C>G c.(1630-1632)Ctt>Gtt p.L544V G2E3_ENST00000438909.2_Missense_Mutation_p.L498V|G2E3_ENST00000553504.1_Missense_Mutation_p.L574V NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 544 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AAAAGACATACTTGGCTACCA 0.299000 20 46 0 0 0.624587 0 0 CEP170 9859 broad.mit.edu 37 1 243354558 243354558 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:243354558C>G ENST00000366542.1 - 8 921 c.870G>C c.(868-870)ggG>ggC p.G290G CEP170_ENST00000366543.1_Silent_p.G290G|CEP170_ENST00000366544.1_Silent_p.G290G NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 290 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TAGTTACCTTCCCTGGGGTAC 0.438000 4 16 0 0 0.248553 0 0 RP1 6101 broad.mit.edu 37 8 55537868 55537868 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:55537868C>G ENST00000220676.1 + 4 1574 c.1426C>G c.(1426-1428)Caa>Gaa p.Q476E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 476 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AACTGAGGTTCAAGAGAAAAT 0.388000 18 45 0 0 0.575678 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642730 1642730 + Silent SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1642730A>G ENST00000399682.1 - 1 638 c.594T>C c.(592-594)ggT>ggC p.G198G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 258 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ATGACCCACAACCTGAGGAGG 0.597000 6 108 0 0 0.847076 0 0 BSG 682 broad.mit.edu 37 19 571571 571571 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:571571C>T ENST00000346916.4 + 1 275 c.24C>T c.(22-24)ccC>ccT p.P8P AC009005.2_ENST00000588290.1_RNA|BSG_ENST00000545507.2_5'UTR|AC009005.2_ENST00000589457.1_RNA|AC009005.2_ENST00000588908.1_RNA|AC009005.2_ENST00000590292.1_RNA NM_198591.2 NP_940993.1 P35613 BASI_HUMAN basigin 184 blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) acgcgtctccccaagaaaggt 0.597000 9 26 0 0 0.335167 0 0 PSG7 5676 broad.mit.edu 37 19 43433864 43433864 + RNA SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:43433864G>T ENST00000406070.2 - 0 535 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GAGGGTTTGGGAGTCTCCACT 0.512000 61 13 1.43675e-24 1.57914e-24 0.870114 1 0 BRIP1 83990 broad.mit.edu 37 17 59761063 59761063 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:59761063G>A ENST00000259008.2 - 20 3611 c.3344C>T c.(3343-3345)tCc>tTc p.S1115F NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1115 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ATTTGAAGTGGACTGTTTATC 0.353000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 44 17 0 0 0.847076 0 0 SETD3 84193 broad.mit.edu 37 14 99932040 99932040 + Splice_Site SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:99932040T>A ENST00000331768.5 - 2 262 c.103_splice c.e2+1 p.K35_splice SETD3_ENST00000436070.2_Splice_Site_p.K35_splice|SETD3_ENST00000329331.3_Splice_Site_p.K35_splice|SETD3_ENST00000453938.1_5'UTR NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 35 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) GAGGACTTACTCTGCAGCAGC 0.502000 9 30 0 0 0.361761 0 0 RICTOR 253260 broad.mit.edu 37 5 38991111 38991111 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:38991111C>G ENST00000357387.3 - 7 553 c.523G>C c.(523-525)Gat>Cat p.D175H RICTOR_ENST00000296782.5_Missense_Mutation_p.D175H NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 175 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TGAAGTCCATCATTTCCAACT 0.353000 4 99 0 0 0.150653 0 0 BPIFC 254240 broad.mit.edu 37 22 32831730 32831730 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:32831730G>A ENST00000397452.1 - 9 995 c.885C>T c.(883-885)ttC>ttT p.F295F BPIFC_ENST00000300399.3_Silent_p.F295F|BPIFC_ENST00000432451.2_Silent_p.F109F|BPIFC_ENST00000534972.1_Silent_p.F19F Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 295 extracellular region lipopolysaccharide binding|phospholipid binding CCCCAGCTGTGAAATGAGCAA 0.458000 17 19 0 0 0.500413 0 0 RGS12 6002 broad.mit.edu 37 4 3318834 3318834 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:3318834G>T ENST00000336727.3 + 2 1841 c.937G>T c.(937-939)Ggg>Tgg p.G313W RGS12_ENST00000543385.1_Missense_Mutation_p.G313W|RGS12_ENST00000344733.5_Missense_Mutation_p.G313W|RGS12_ENST00000382788.3_Missense_Mutation_p.G313W NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 313 PID. 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) GCGATTTTTCGGGTTGGTTAC 0.642000 3 77 0.115264 0.116699 0.115264 1 0 LAMA4 3910 broad.mit.edu 37 6 112443245 112443245 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:112443245C>G ENST00000230538.7 - 32 4844 c.4447G>C c.(4447-4449)Gaa>Caa p.E1483Q LAMA4_ENST00000424408.2_Missense_Mutation_p.E1476Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1476Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1476Q NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1483 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTAAGTGTTCAAACTCTTGG 0.443000 17 54 0 0 0.520397 0 0 GLUD2 2747 broad.mit.edu 37 X 120183061 120183061 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:120183061C>G ENST00000328078.1 + 1 1600 c.1523C>G c.(1522-1524)tCt>tGt p.S508C NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 508 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) ATTGTGCACTCTGCCTTGGCA 0.463000 31 24 0 0 0.750413 0 0 TAAR6 319100 broad.mit.edu 37 6 132892295 132892295 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:132892295T>C ENST00000275198.1 + 1 835 c.835T>C c.(835-837)Tta>Cta p.L279L NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 279 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CATTGATTCATTAATTGATGC 0.408000 22 61 0 0 0.608945 0 0 HIVEP2 3097 broad.mit.edu 37 6 143094723 143094723 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:143094723G>C ENST00000367603.2 - 5 1895 c.1153C>G c.(1153-1155)Ctc>Gtc p.L385V HIVEP2_ENST00000012134.2_Missense_Mutation_p.L385V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.L385V NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGAAGGTTGAGCGATGGCTCA 0.438000 43 103 0 0 0.853193 0 0 ZNF835 90485 broad.mit.edu 37 19 57175000 57175000 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:57175000G>T ENST00000537055.2 - 2 1798 c.1567C>A c.(1567-1569)Caa>Aaa p.Q523K NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CACCCCTGTTGACAGGTTTCT 0.582000 18 63 9.16793e-09 9.72598e-09 0.520397 1 0 MYH11 4629 broad.mit.edu 37 16 15841954 15841954 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:15841954G>C ENST00000338282.6 - 17 2236 c.2130C>G c.(2128-2130)atC>atG p.I710M MYH11_ENST00000576790.1_Missense_Mutation_p.I710M|MYH11_ENST00000452625.2_Missense_Mutation_p.I717M|MYH11_ENST00000396324.3_Missense_Mutation_p.I717M|MYH11_ENST00000300036.5_Missense_Mutation_p.I710M NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 710 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCTGCCGGCAGATGCGAATGC 0.637000 T CBFB AML 15 64 0 0 0.520397 0 0 EPHX4 253152 broad.mit.edu 37 1 92495681 92495681 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:92495681C>T ENST00000370383.4 + 1 143 c.45C>T c.(43-45)ctC>ctT p.L15L NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 15 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGCTCACGCTCCGGTCCCTGC 0.701000 7 18 0 0 0.248553 0 0 TRPM1 4308 broad.mit.edu 37 15 31339443 31339443 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:31339443C>T ENST00000542188.1 - 14 1999 c.1686G>A c.(1684-1686)ccG>ccA p.P562P TRPM1_ENST00000397795.2_Silent_p.P523P|TRPM1_ENST00000256552.6_Silent_p.P545P NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 523 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGTAATCAGGCGGAAGGTTGC 0.547000 6 25 0 0 0.248553 0 0 PLAU 5328 broad.mit.edu 37 10 75672797 75672797 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:75672797G>A ENST00000446342.1 + 4 740 c.258G>A c.(256-258)acG>acA p.T86T PLAU_ENST00000372762.4_Silent_p.T67T|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.T103T|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 103 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) TTCAGCAAACGTACCATGCCC 0.572000 10 47 0 0 0.335167 0 0 POGLUT1 56983 broad.mit.edu 37 3 119198980 119198980 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:119198980G>T ENST00000295588.4 + 5 623 c.539G>T c.(538-540)gGt>gTt p.G180V NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 180 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 TATCCTACAGGTCTTGGACGG 0.418000 30 15 1.30897e-18 1.42903e-18 0.740014 1 0 CPAMD8 27151 broad.mit.edu 37 19 17111256 17111256 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:17111256C>G ENST00000443236.1 - 10 1007 c.976G>C c.(976-978)Gag>Cag p.E326Q CPAMD8_ENST00000388925.4_Missense_Mutation_p.E279Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 279 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CGTCCCACCTCGTGGCTGTAG 0.517000 6 19 0 0 0.248553 0 0 UBR4 23352 broad.mit.edu 37 1 19473443 19473443 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:19473443C>T ENST00000375267.2 - 52 7684 c.7681G>A c.(7681-7683)Gag>Aag p.E2561K UBR4_ENST00000375254.3_Missense_Mutation_p.E2561K|UBR4_ENST00000375217.2_Missense_Mutation_p.E2561K|UBR4_ENST00000375226.2_Missense_Mutation_p.E2572K Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2561 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCCTTGCCCTCTTTGCTAGAT 0.527000 57 175 0 0 0.870114 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820840 35820840 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:35820840C>G ENST00000399989.1 + 2 806 c.527C>G c.(526-528)aCc>aGc p.T176S MAGEB16_ENST00000399987.1_Missense_Mutation_p.T176S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.T176S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T208S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T176S NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 176 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GTGGACCCCACCACCCATTGC 0.507000 8 17 0 0 0.411799 0 0 DNAH8 1769 broad.mit.edu 37 6 38830055 38830055 + Splice_Site SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:38830055G>A ENST00000359357.3 + 42 5734 c.e42-1 DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AACATTTGCAGATGCTATATC 0.463000 18 34 0 0 0.520397 0 0 LSAMP 4045 broad.mit.edu 37 3 115560764 115560764 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:115560764C>T ENST00000490035.1 - 6 1346 c.847G>A c.(847-849)Gag>Aag p.E283K LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E280K NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 283 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CCGTAGTGCTCCTCAGTGACG 0.507000 10 34 0 0 0.335167 0 0 CYFIP2 26999 broad.mit.edu 37 5 156751060 156751060 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:156751060C>T ENST00000347377.6 + 16 2234 c.1803C>T c.(1801-1803)ttC>ttT p.F601F CYFIP2_ENST00000522463.1_Silent_p.F405F|CYFIP2_ENST00000521420.1_Silent_p.F575F|CYFIP2_ENST00000318218.6_Silent_p.F626F|CYFIP2_ENST00000377576.3_Silent_p.F601F|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.F526F|CYFIP2_ENST00000435847.2_Silent_p.F300F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 626 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTTCTTCTTCACACATCTGC 0.547000 18 7 0 0 0.575678 0 0 SEC61A1 29927 broad.mit.edu 37 3 127774526 127774526 + Missense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:127774526T>A ENST00000243253.3 + 4 336 c.152T>A c.(151-153)tTt>tAt p.F51Y SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.F57Y NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 51 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 ATTCCCCTGTTTGGGATCATG 0.473000 31 109 0 0 0.769981 0 0 GABBR1 2550 broad.mit.edu 37 6 29588923 29588923 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:29588923C>G ENST00000377034.4 - 11 1613 c.1278G>C c.(1276-1278)gaG>gaC p.E426D GABBR1_ENST00000377016.4_Missense_Mutation_p.E364D|GABBR1_ENST00000377012.4_Missense_Mutation_p.E309D|GABBR1_ENST00000355973.3_Missense_Mutation_p.E309D|GABBR1_ENST00000376977.3_Missense_Mutation_p.E426D NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 426 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GCATGACAATCTCAGTTGTGA 0.532000 11 28 0 0 0.361761 0 0 BIRC6 57448 broad.mit.edu 37 2 32688441 32688441 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:32688441C>T ENST00000421745.2 + 24 5067 c.4933C>T c.(4933-4935)Cag>Tag p.Q1645* NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1645 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) TTTGAAGCTTCAGCAACAGGT 0.423000 5 18 0 0 0.217242 0 0 BNC2 54796 broad.mit.edu 37 9 16436013 16436013 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:16436013C>G ENST00000380672.4 - 6 2236 c.2179G>C c.(2179-2181)Gag>Cag p.E727Q BNC2_ENST00000380666.2_Missense_Mutation_p.E727Q|BNC2_ENST00000380667.2_Missense_Mutation_p.E660Q|BNC2_ENST00000545497.1_Missense_Mutation_p.E632Q NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 727 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TCCGAAGACTCAGACTCGTTC 0.512000 155 44 0 0 0.870114 0 0 SEMA4D 10507 broad.mit.edu 37 9 92017921 92017921 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:92017921C>T ENST00000450295.1 - 4 893 c.117G>A c.(115-117)ctG>ctA p.L39L SEMA4D_ENST00000438547.2_Silent_p.L39L|SEMA4D_ENST00000356444.2_Silent_p.L39L|SEMA4D_ENST00000343780.4_Silent_p.L39L|SEMA4D_ENST00000455551.2_Silent_p.L39L|SEMA4D_ENST00000420987.1_Silent_p.L39L|SEMA4D_ENST00000339861.4_Silent_p.L39L|SEMA4D_ENST00000422704.2_Silent_p.L39L Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 39 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GAAACTGCACCAGGTGCACCT 0.547000 10 48 0 0 0.435327 0 0 CDH2 1000 broad.mit.edu 37 18 25568547 25568547 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:25568547C>T ENST00000269141.3 - 11 2105 c.1682G>A c.(1681-1683)cGa>cAa p.R561Q CDH2_ENST00000399380.3_Missense_Mutation_p.R530Q NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 561 Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TGGTGATTCTCGGTCCAAAAC 0.333000 12 20 0 0 0.387290 0 0 GPATCH3 63906 broad.mit.edu 37 1 27223839 27223839 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:27223839C>G ENST00000361720.5 - 2 852 c.829G>C c.(829-831)Gag>Cag p.E277Q NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 277 Glu-rich. intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) ACTTCTTCCTCAGGCTCTCCA 0.542000 48 118 0 0 0.870114 0 0 CACNA1C 775 broad.mit.edu 37 12 2693722 2693722 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:2693722G>A ENST00000399655.1 + 16 2543 c.2278G>A c.(2278-2280)Gag>Aag p.E760K CACNA1C_ENST00000399649.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E760K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E785K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E760K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E760K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 760 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGCTGATGCTGAGAGCCTCAC 0.512000 13 45 0 0 0.411799 0 0 TBC1D27 96597 broad.mit.edu 37 17 16830195 16830195 + RNA SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:16830195G>A ENST00000261651.2 - 0 2850 GCTGTCTCATGATCTTTGGGA 0.577000 4 16 0 0 0.150653 0 0 SSRP1 6749 broad.mit.edu 37 11 57097867 57097867 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:57097867C>T ENST00000278412.2 - 11 1599 c.1333G>A c.(1333-1335)Gat>Aat p.D445N NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 445 Asp/Glu-rich (acidic). DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TGGTCCTCATCAGAGTCAGCA 0.537000 4 31 0 0 0.184627 0 0 ZNF251 90987 broad.mit.edu 37 8 145948062 145948062 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:145948062C>T ENST00000292562.7 - 5 1258 c.983G>A c.(982-984)aGa>aAa p.R328K ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GCTAAAGCCTCTTCCACATTC 0.488000 17 11 0 0 0.520397 0 0 COBL 23242 broad.mit.edu 37 7 51261114 51261114 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:51261114C>T ENST00000395542.2 - 3 602 c.418G>A c.(418-420)Gaa>Aaa p.E140K COBL_ENST00000395540.2_Missense_Mutation_p.E140K|COBL_ENST00000441453.1_Missense_Mutation_p.E140K|COBL_ENST00000265136.7_Missense_Mutation_p.E140K O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 140 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ACCTTCTCTTCAGGAACTTTT 0.453000 14 77 0 0 0.520397 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89103861 89103861 + RNA SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:89103861C>T ENST00000393525.3 + 0 4335 taggtcatttctaaatGTAAT 0.284000 7 5 0 0 0.248553 0 0 DRP2 1821 broad.mit.edu 37 X 100496666 100496666 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:100496666C>T ENST00000395209.3 + 7 1096 c.569C>T c.(568-570)cCg>cTg p.P190L DRP2_ENST00000538510.1_Missense_Mutation_p.P190L|DRP2_ENST00000541709.1_Missense_Mutation_p.P112L|DRP2_ENST00000402866.1_Missense_Mutation_p.P190L NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 190 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 GATACCTCCCCGAAACAGCGG 0.547000 10 39 0 0 0.411799 0 0 COPB2 9276 broad.mit.edu 37 3 139093334 139093334 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:139093334C>T ENST00000333188.5 - 7 929 c.748G>A c.(748-750)Gat>Aat p.D250N COPB2_ENST00000507777.1_Missense_Mutation_p.D221N NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 250 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 AACTTACCATCTTCTGAACCT 0.403000 30 70 0 0 0.740014 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938128 116938128 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:116938128G>C ENST00000229554.5 + 1 479 c.342G>C c.(340-342)acG>acC p.T114T RSPH4A_ENST00000368580.4_Silent_p.T114T|RSPH4A_ENST00000368581.4_Silent_p.T114T NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 114 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACAGGACCACGAGTGTGATTC 0.552000 Kartagener syndrome 18 51 0 0 0.557998 0 0 LOC220729 220729 broad.mit.edu 37 3 197346747 197346747 + RNA SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:197346747C>T ENST00000418868.1 - 0 697 NR_003266.2 CAGCTGGTATCATATCTCAGA 0.423000 6 23 0 0 0.248553 0 0 FCER1A 2205 broad.mit.edu 37 1 159275900 159275900 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:159275900C>T ENST00000368115.1 + 5 553 c.454C>T c.(454-456)Ctc>Ttc p.L152F FCER1A_ENST00000368114.1_Missense_Mutation_p.L119F NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 152 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGGTGAAGCTCTCAAGTACTG 0.498000 26 57 0 0 0.717897 0 0 CALCR 799 broad.mit.edu 37 7 93098029 93098029 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:93098029G>A ENST00000359558.2 - 8 872 c.573C>T c.(571-573)ttC>ttT p.F191F CALCR_ENST00000421592.1_Silent_p.F173F|CALCR_ENST00000360249.4_Silent_p.F173F|CALCR_ENST00000426151.1_Silent_p.F173F|CALCR_ENST00000394441.1_Silent_p.F173F NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 173 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTACTTACCTGAAAAACACGA 0.418000 6 38 0 0 0.278610 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733388 106733388 + RNA SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:106733388G>A ENST00000390610.2 - 0 166 GACCTTCACTGAGGCCCCAGG 0.577000 40 141 0 0 0.840704 0 0 ZNF471 57573 broad.mit.edu 37 19 57035959 57035959 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:57035959G>A ENST00000308031.5 + 5 656 c.523G>A c.(523-525)Gag>Aag p.E175K ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AAACATAGAAGAGAGTATTTA 0.284000 3 28 0 0 0.150653 0 0 SRGAP1 57522 broad.mit.edu 37 12 64383777 64383777 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:64383777G>C ENST00000355086.3 + 3 875 c.351G>C c.(349-351)ttG>ttC p.L117F SRGAP1_ENST00000357825.3_Missense_Mutation_p.L117F|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L77F NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 117 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATGCAACCTTGAGTGACATCT 0.423000 28 63 0 0 0.717897 0 0 MYH11 4629 broad.mit.edu 37 16 15833949 15833949 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:15833949C>T ENST00000338282.6 - 23 3062 c.2956G>A c.(2956-2958)Gag>Aag p.E986K MYH11_ENST00000576790.1_Missense_Mutation_p.E986K|MYH11_ENST00000452625.2_Missense_Mutation_p.E993K|MYH11_ENST00000396324.3_Missense_Mutation_p.E993K|MYH11_ENST00000300036.5_Missense_Mutation_p.E986K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 986 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ACCAGGATCTCATCCTCCAGT 0.517000 T CBFB AML 28 78 0 0 0.706142 0 0 DENND5B 160518 broad.mit.edu 37 12 31555438 31555438 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:31555438G>T ENST00000389082.5 - 15 3207 c.2943C>A c.(2941-2943)acC>acA p.T981T DENND5B_ENST00000536562.1_Silent_p.T1016T|DENND5B_ENST00000306833.6_Silent_p.T1016T NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 981 PLAT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CTACCTCAAAGGTCATTTCGA 0.398000 39 46 2.47872e-24 2.71824e-24 0.853193 1 0 SCML1 6322 broad.mit.edu 37 X 17768106 17768106 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:17768106C>G ENST00000380043.3 + 5 643 c.315C>G c.(313-315)tcC>tcG p.S105S SCML1_ENST00000398080.1_Silent_p.S11S|SCML1_ENST00000380045.3_Silent_p.S11S|SCML1_ENST00000380041.3_Silent_p.S132S NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 132 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) AGACATTCTCCTACCCTGAAA 0.418000 32 56 0 0 0.729181 0 0 OC90 729330 broad.mit.edu 37 8 133041345 133041345 + Silent SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:133041345C>A ENST00000262283.5 - 17 1848 c.1749G>T c.(1747-1749)gtG>gtT p.V583V OC90_ENST00000443356.2_Silent_p.V387V|OC90_ENST00000603859.1_Silent_p.V371V|OC90_ENST00000254627.3_Silent_p.V371V Q02509 OC90_HUMAN otoconin 90 387 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCACACACACCACCGGTGACC 0.512000 38 28 4.14481e-20 4.53513e-20 0.819951 1 0 RHOJ 57381 broad.mit.edu 37 14 63749901 63749901 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:63749901C>T ENST00000316754.3 + 4 927 c.465C>T c.(463-465)ctC>ctT p.L155L RHOJ_ENST00000555125.1_Silent_p.L155L NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 155 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) AGAAACCTCTCACTTACGAGC 0.398000 17 36 0 0 0.539581 0 0 SECISBP2 79048 broad.mit.edu 37 9 91963111 91963111 + Missense_Mutation SNP G G A rs147681365 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:91963111G>A ENST00000375807.3 + 12 1791 c.1720G>A c.(1720-1722)Gag>Aag p.E574K SECISBP2_ENST00000339901.4_Missense_Mutation_p.E501K|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E506K NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 574 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CCAGTTTCCCGAGCAGGCAGA 0.463000 19 71 0 0 0.608945 0 0 TOE1 114034 broad.mit.edu 37 1 45809091 45809091 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:45809091G>T ENST00000372090.5 + 8 1833 c.1250G>T c.(1249-1251)aGa>aTa p.R417I TOE1_ENST00000539779.1_Missense_Mutation_p.R337I|TOE1_ENST00000495703.1_3'UTR NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 417 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) ATAGCTGATAGAGCTACCTCA 0.517000 40 35 5.71845e-15 6.20134e-15 0.812448 1 0 NBEAL2 23218 broad.mit.edu 37 3 47030591 47030591 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:47030591G>C ENST00000450053.3 + 4 465 c.286G>C c.(286-288)Gag>Cag p.E96Q NBEAL2_ENST00000292309.5_Missense_Mutation_p.E96Q|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 96 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGAGAACATAGAGGCAGGCCG 0.597000 8 10 0 0 0.278610 0 0 COL4A3 1285 broad.mit.edu 37 2 228159768 228159768 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:228159768G>A ENST00000396578.3 + 40 3669 c.3507G>A c.(3505-3507)aaG>aaA p.K1169K AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1169 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCGGAGAAAAGGGAGAAACGG 0.408000 54 25 0 0 0.870114 0 0 OR4D9 390199 broad.mit.edu 37 11 59283060 59283060 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:59283060G>C ENST00000329328.3 + 1 675 c.675G>C c.(673-675)ctG>ctC p.L225L NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L225L(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TGATGATGCTGAGGTCTCACA 0.488000 32 167 0 0 0.769981 0 0 KMT2D 8085 broad.mit.edu 37 12 49436573 49436573 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:49436573G>T ENST00000301067.7 - 26 5732 c.5733C>A c.(5731-5733)acC>acA p.T1911T NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTAGGCCAGGGGTTCCACAAC 0.542000 24 58 1.66031e-10 1.77293e-10 0.667858 1 0 MYO16 23026 broad.mit.edu 37 13 109540724 109540724 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:109540724G>C ENST00000356711.2 + 14 1618 c.1492G>C c.(1492-1494)Gaa>Caa p.E498Q MYO16_ENST00000251041.5_Missense_Mutation_p.E498Q|MYO16_ENST00000357550.2_Missense_Mutation_p.E498Q|MYO16_ENST00000457511.2_Missense_Mutation_p.E10Q NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 498 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCTTAGTGGAGAAAGGGGATC 0.438000 34 14 0 0 0.750413 0 0 MEX3D 399664 broad.mit.edu 37 19 1556757 1556757 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:1556757C>T ENST00000402693.4 - 2 760 c.761G>A c.(760-762)cGc>cAc p.R254H MEX3D_ENST00000388824.6_Missense_Mutation_p.R254H NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 254 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) GGCCTTGCTGCGCGTGGCGCG 0.706000 16 41 0 0 0.539581 0 0 OR7A10 390892 broad.mit.edu 37 19 14952228 14952228 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:14952228C>G ENST00000248058.1 - 1 461 c.462G>C c.(460-462)ctG>ctC p.L154L NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) ACATGGAATTCAGAACACTCA 0.458000 4 64 0 0 0.150653 0 0 NUDT19 390916 broad.mit.edu 37 19 33200187 33200187 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:33200187G>A ENST00000397061.3 + 2 811 c.811G>A c.(811-813)Gcc>Acc p.A271T NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 271 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) TGCAAACTTTGCCTCTCTCTC 0.453000 52 175 0 0 0.870114 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38666925 38666925 + RNA SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:38666925G>A ENST00000494540.1 + 0 893 NR_003086.1 GGACCTAGATGAAGACACTGC 0.338000 5 24 0 0 0.184627 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:41967475G>A ENST00000298919.7 + 10 2502 c.2114G>A c.(2113-2115)cGa>cAa p.R705Q PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R965Q Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 965 ubiquitin-protein ligase activity|zinc ion binding p.R707Q(2)|p.R965Q(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTCATGATGCGAAGCAGGTTA 0.507000 12 32 0 0 0.387290 0 0 IFIH1 64135 broad.mit.edu 37 2 163144671 163144671 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:163144671C>T ENST00000263642.2 - 5 1464 c.1069G>A c.(1069-1071)Gga>Aga p.G357R NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 357 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 ATAACTTTTCCAGGCTCAGAT 0.358000 22 85 0 0 0.639603 0 0 ARMC9 80210 broad.mit.edu 37 2 232143099 232143099 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:232143099G>A ENST00000349938.4 + 16 1673 c.1479G>A c.(1477-1479)aaG>aaA p.K493K ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 493 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CCATAGGGAAGAACATGTGTG 0.483000 27 82 0 0 0.769981 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820841 35820841 + Silent SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:35820841C>A ENST00000399989.1 + 2 807 c.528C>A c.(526-528)acC>acA p.T176T MAGEB16_ENST00000399987.1_Silent_p.T176T|MAGEB16_ENST00000399988.1_Silent_p.T176T|MAGEB16_ENST00000399992.1_Silent_p.T208T|MAGEB16_ENST00000399985.1_Silent_p.T176T NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 176 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TGGACCCCACCACCCATTGCT 0.512000 8 17 0.00136819 0.00140564 0.411799 1 0 MTMR12 54545 broad.mit.edu 37 5 32230321 32230321 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:32230321C>G ENST00000382142.3 - 16 1977 c.1807G>C c.(1807-1809)Gat>Cat p.D603H MTMR12_ENST00000264934.5_Missense_Mutation_p.D493H|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.D549H NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 603 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGGAGCTCATCAGAAGAATTA 0.403000 26 155 0 0 0.667858 0 0 FBN2 2201 broad.mit.edu 37 5 127645021 127645021 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:127645021C>G ENST00000508053.1 - 47 6245 c.5271G>C c.(5269-5271)gtG>gtC p.V1757V FBN2_ENST00000262464.4_Silent_p.V1757V P35556 FBN2_HUMAN fibrillin 2 1757 TB 7. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCTTTTTGTCACATTGAAAG 0.428000 4 48 0 0 0.150653 0 0 KDM3B 51780 broad.mit.edu 37 5 137735696 137735696 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:137735696G>A ENST00000314358.5 + 11 3394 c.3194G>A c.(3193-3195)cGc>cAc p.R1065H KDM3B_ENST00000542866.1_Missense_Mutation_p.R97H|KDM3B_ENST00000394866.1_Missense_Mutation_p.R721H NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1065 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AGCCGGCCACGCAGTGGTAAG 0.478000 4 61 0 0 0.150653 0 0 RHPN2 85415 broad.mit.edu 37 19 33493179 33493179 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:33493179G>C ENST00000254260.3 - 9 1114 c.1079C>G c.(1078-1080)aCt>aGt p.T360S RHPN2_ENST00000400226.4_Missense_Mutation_p.T209S NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 360 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GAGGATGGCAGTGAAGTAGTG 0.647000 20 37 0 0 0.608945 0 0 MS4A14 84689 broad.mit.edu 37 11 60183118 60183118 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:60183118G>C ENST00000300187.6 + 5 954 c.677G>C c.(676-678)aGa>aCa p.R226T MS4A14_ENST00000531783.1_Missense_Mutation_p.R259T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.R209T|MS4A14_ENST00000531787.1_Missense_Mutation_p.R114T NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 226 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AATAAAGGTAGAGAATTTGTG 0.403000 22 87 0 0 0.667858 0 0 ZNF212 7988 broad.mit.edu 37 7 148947893 148947893 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:148947893C>G ENST00000335870.2 + 3 664 c.536C>G c.(535-537)tCt>tGt p.S179C NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 179 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) ACACTGGTCTCTCTGAGTGAG 0.498000 19 44 0 0 0.557998 0 0 MAPRE1 22919 broad.mit.edu 37 20 31413815 31413815 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:31413815C>G ENST00000375571.5 + 2 221 c.82C>G c.(82-84)Ctg>Gtg p.L28V NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 28 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 CAATGAGTCTCTGCAGTTGAA 0.433000 43 73 0 0 0.870114 0 0 USH2A 7399 broad.mit.edu 37 1 216040365 216040365 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:216040365C>G ENST00000366943.2 - 44 9215 c.8829G>C c.(8827-8829)gtG>gtC p.V2943V USH2A_ENST00000307340.3_Silent_p.V2943V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2943 Fibronectin type-III 16. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGCCCACCTCACGTCGATGG 0.448000 HNSCC(13;0.011) 18 47 0 0 0.592651 0 0 SLC17A7 57030 broad.mit.edu 37 19 49935905 49935905 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:49935905C>T ENST00000221485.3 - 9 1192 c.1021G>A c.(1021-1023)Ggc>Agc p.G341S SLC17A7_ENST00000543531.1_Missense_Mutation_p.G329S|SLC17A7_ENST00000600601.1_Missense_Mutation_p.G274S NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 341 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GACACCAGGCCTACCTGCGGG 0.692000 18 13 0 0 0.592651 0 0 NRK 203447 broad.mit.edu 37 X 105179293 105179293 + Nonsense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:105179293G>T ENST00000428173.2 + 21 3937 c.3634G>T c.(3634-3636)Gag>Tag p.E1212* NRK_ENST00000243300.9_Nonsense_Mutation_p.E1211* Q7Z2Y5 NRK_HUMAN Nik related kinase 1211 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GTTCACTTCTGAGATCTGCTG 0.353000 HNSCC(51;0.14) 20 11 5.03518e-11 5.40037e-11 0.557998 1 0 IFIH1 64135 broad.mit.edu 37 2 163128753 163128753 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:163128753C>G ENST00000263642.2 - 13 2994 c.2599G>C c.(2599-2601)Gag>Cag p.E867Q NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 867 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GCATACTCCTCTGGTTTCATA 0.378000 6 19 0 0 0.217242 0 0 NOTCH3 4854 broad.mit.edu 37 19 15291928 15291928 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:15291928G>T ENST00000263388.2 - 18 2913 c.2838C>A c.(2836-2838)ttC>ttA p.F946L NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 946 EGF-like 24. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) acaggcagctgaacgagttca 0.687000 4 14 0.00024832 0.000256738 0.150653 1 0 DDX60L 91351 broad.mit.edu 37 4 169317111 169317111 + Splice_Site SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:169317111G>C ENST00000511577.1 - 27 3903 c.3657_splice c.e27+1 p.S1219_splice DDX60L_ENST00000260184.7_Splice_Site_p.S1219_splice|DDX60L_ENST00000505890.1_Splice_Site_p.S1220_splice Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1219 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTGACGTACTGAGTCTTTATT 0.343000 4 23 0 0 0.184627 0 0 PLXNB3 5365 broad.mit.edu 37 X 153035337 153035337 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:153035337C>G ENST00000538966.1 + 8 1912 c.1641C>G c.(1639-1641)caC>caG p.H547Q PLXNB3_ENST00000538776.1_Missense_Mutation_p.H177Q|PLXNB3_ENST00000538543.1_Missense_Mutation_p.H74Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.H134Q|PLXNB3_ENST00000361971.5_Missense_Mutation_p.H524Q NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 524 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGGACAGCCACTGCCTGCACA 0.687000 4 7 0 0 0.248553 0 0 BAGE2 85319 broad.mit.edu 37 21 11049475 11049475 + RNA SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:11049475C>G ENST00000470054.1 - 0 633 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTTGCACTCAGGACATTGC 0.423000 4 139 0 0 0.217242 0 0 VPS45 11311 broad.mit.edu 37 1 150054908 150054908 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:150054908G>A ENST00000369130.3 + 10 1591 c.1045G>A c.(1045-1047)Gag>Aag p.E349K VPS45_ENST00000535106.1_Missense_Mutation_p.E280K|VPS45_ENST00000369128.5_Missense_Mutation_p.E244K NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 349 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAATCTGCTGGAGGTTTCAGA 0.453000 18 34 0 0 0.520397 0 0 METTL1 4234 broad.mit.edu 37 12 58163602 58163602 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:58163602G>A ENST00000324871.7 - 3 1121 c.412C>T c.(412-414)Cgt>Tgt p.R138C METTL1_ENST00000257848.7_Intron NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 138 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) GCATTGCTACGGAGACAGGCG 0.607000 7 31 0 0 0.248553 0 0 AGPAT3 56894 broad.mit.edu 37 21 45387862 45387862 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:45387862G>A ENST00000398063.2 + 3 706 c.214G>A c.(214-216)Gag>Aag p.E72K AGPAT3_ENST00000327505.2_Missense_Mutation_p.E72K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E72K|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E72K NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 72 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GTCCTGCACGGAGTGTACACT 0.612000 11 22 0 0 0.411799 0 0 CASC5 57082 broad.mit.edu 37 15 40914964 40914964 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:40914964G>A ENST00000346991.5 + 11 2970 c.2580G>A c.(2578-2580)caG>caA p.Q860Q CASC5_ENST00000399668.2_Silent_p.Q834Q|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 860 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAAGTGTACAGAAACCTAAAT 0.338000 32 44 0 0 0.750413 0 0 PREPL 9581 broad.mit.edu 37 2 44565513 44565513 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:44565513C>T ENST00000541738.1 - 7 1251 c.865G>A c.(865-867)Gat>Aat p.D289N PREPL_ENST00000378520.3_Missense_Mutation_p.D378N|PREPL_ENST00000409936.1_Missense_Mutation_p.D378N|PREPL_ENST00000409411.1_Missense_Mutation_p.D289N|PREPL_ENST00000410081.1_Missense_Mutation_p.D378N|PREPL_ENST00000409272.1_Missense_Mutation_p.D378N|PREPL_ENST00000409957.1_Missense_Mutation_p.D289N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.D378N NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 378 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACTGAATCATCAGCCAGACCA 0.328000 19 9 0 0 0.539581 0 0 AHNAK 79026 broad.mit.edu 37 11 62287084 62287084 + Silent SNP C C T rs149805243 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:62287084C>T ENST00000378024.4 - 5 15079 c.14805G>A c.(14803-14805)ccG>ccA p.P4935P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4935 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) CTTCTAACTTCGGACCTGAAA 0.458000 24 118 0 0 0.639603 0 0 NUP214 8021 broad.mit.edu 37 9 134073419 134073419 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:134073419C>T ENST00000359428.5 + 29 4682 c.4538C>T c.(4537-4539)tCa>tTa p.S1513L NUP214_ENST00000451030.1_Missense_Mutation_p.S1514L|NUP214_ENST00000483497.2_Missense_Mutation_p.S339L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1503L P35658 NU214_HUMAN nucleoporin 214kDa 1513 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTCTCAGCATCAGCAGCCTCA 0.552000 T """DEK, SET, ABL1""" """AML, T-ALL""" 15 102 0 0 0.479597 0 0 USP41 373856 broad.mit.edu 37 22 20724457 20724457 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:20724457G>A ENST00000454608.2 - 7 432 c.433C>T c.(433-435)Ctc>Ttc p.L145F USP41_ENST00000486536.2_5'UTR ubiquitin specific peptidase 41 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 CAGAGTTTGAGGTACAGTTGG 0.468000 19 81 0 0 0.608945 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180656 142180656 + RNA SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:142180656G>A ENST00000390368.2 - 0 268 AGCACCAACTGAGTAATGAAT 0.527000 49 155 0 0 0.870114 0 0 PRR16 51334 broad.mit.edu 37 5 120022237 120022237 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:120022237C>A ENST00000379551.2 + 3 1036 c.679C>A c.(679-681)Ccc>Acc p.P227T PRR16_ENST00000505123.1_Missense_Mutation_p.P180T|PRR16_ENST00000446965.1_Missense_Mutation_p.P180T|PRR16_ENST00000407149.2_Missense_Mutation_p.P250T NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 250 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCAAGGCCCTCCCCTCCCTCC 0.522000 19 16 2.4624e-09 2.61797e-09 0.575678 1 0 CILP 8483 broad.mit.edu 37 15 65489097 65489097 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:65489097C>T ENST00000261883.4 - 9 3693 c.3527G>A c.(3526-3528)aGa>aAa p.R1176K NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1176 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TTGAGCAACTCTAGGAAATCT 0.557000 14 30 0 0 0.435327 0 0 LUZP4 51213 broad.mit.edu 37 X 114540829 114540829 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:114540829G>A ENST00000371920.3 + 4 409 c.402G>A c.(400-402)ggG>ggA p.G134G LUZP4_ENST00000451986.2_Silent_p.G52G NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 134 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 AGTCAGAGGGGAACCAGCATC 0.433000 18 24 0 0 0.575678 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607532 31607532 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:31607532C>T ENST00000170150.3 + 11 1251 c.1056C>T c.(1054-1056)ttC>ttT p.F352F NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 352 extracellular region lipid binding ACTCGGCTTTCCAGTCCCTCT 0.637000 6 27 0 0 0.217242 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249442 123249442 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:123249442G>A ENST00000264501.4 + 66 11552 c.11179G>A c.(11179-11181)Gaa>Aaa p.E3727K KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3727K Q2LD37 K1109_HUMAN KIAA1109 3727 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTCTACCAGTGAAGATTCCGA 0.423000 22 43 0 0 0.624587 0 0 SYNE1 23345 broad.mit.edu 37 6 152763259 152763259 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:152763259G>T ENST00000367255.5 - 31 4560 c.3959C>A c.(3958-3960)aCa>aAa p.T1320K SYNE1_ENST00000448038.1_Missense_Mutation_p.T1327K|SYNE1_ENST00000367253.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000265368.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000413186.2_Missense_Mutation_p.T1320K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T1386K|SYNE1_ENST00000367248.3_Missense_Mutation_p.T1310K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T1327K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1320 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) GCCATCCAGTGTGCTCTCCAG 0.637000 HNSCC(10;0.0054) 17 53 3.6726e-16 4.00051e-16 0.667858 1 0 MKL1 57591 broad.mit.edu 37 22 40816946 40816946 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:40816946G>T ENST00000396617.3 - 10 1376 c.786C>A c.(784-786)atC>atA p.I262I MKL1_ENST00000355630.3_Silent_p.I262I|MKL1_ENST00000402042.1_Silent_p.I212I|MKL1_ENST00000407029.1_Silent_p.I262I Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 262 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTGCTGCAGGATCTTGGCGT 0.602000 T RBM15 acute megakaryocytic leukemia 34 15 1.26612e-14 1.36999e-14 0.779181 1 0 SIM2 6493 broad.mit.edu 37 21 38072060 38072060 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:38072060C>G ENST00000290399.6 + 1 627 c.14C>G c.(13-15)tCc>tGc p.S5C AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Missense_Mutation_p.S5C NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 5 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 AAGGAGAAGTCCAAGAATGCG 0.662000 3 15 0 0 0.150653 0 0 ETV1 2115 broad.mit.edu 37 7 13946217 13946217 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:13946217G>C ENST00000343495.5 - 11 1632 c.894C>G c.(892-894)atC>atG p.I298M ETV1_ENST00000399357.3_Missense_Mutation_p.I213M|ETV1_ENST00000420159.2_Missense_Mutation_p.I258M|ETV1_ENST00000405192.2_Missense_Mutation_p.I293M|ETV1_ENST00000403685.1_Missense_Mutation_p.I298M|ETV1_ENST00000430479.1_Missense_Mutation_p.I316M|ETV1_ENST00000242066.5_Missense_Mutation_p.I298M|ETV1_ENST00000403527.1_Missense_Mutation_p.I276M|ETV1_ENST00000405218.2_Missense_Mutation_p.I316M|ETV1_ENST00000405358.4_Missense_Mutation_p.I330M P50549 ETV1_HUMAN ets variant 1 316 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCTCTTGTTTGATGTCTCCTA 0.368000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 3 11 0 0 0.115264 0 0 IRGC 56269 broad.mit.edu 37 19 44223308 44223308 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:44223308G>A ENST00000244314.5 + 2 797 c.598G>A c.(598-600)Gag>Aag p.E200K NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 200 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CCACTGTGCCGAGCGGCTGCG 0.701000 14 54 0 0 0.575678 0 0 DPP4 1803 broad.mit.edu 37 2 162865118 162865118 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:162865118G>C ENST00000360534.3 - 22 2501 c.1941C>G c.(1939-1941)ttC>ttG p.F647L DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 647 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TTCCACACTTGAACACGCCAC 0.468000 16 48 0 0 0.557998 0 0 SYK 6850 broad.mit.edu 37 9 93650072 93650072 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:93650072G>A ENST00000375754.4 + 12 1771 c.1623G>A c.(1621-1623)ccG>ccA p.P541P SYK_ENST00000375747.1_Silent_p.P518P|SYK_ENST00000375751.4_Silent_p.P518P|SYK_ENST00000375746.1_Silent_p.P541P NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 541 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGTACGCTCCGGAATGCATCA 0.483000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 7 164 0 0 0.248553 0 0 WDR70 55100 broad.mit.edu 37 5 37725096 37725096 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:37725096A>G ENST00000265107.4 + 16 1814 c.1658A>G c.(1657-1659)aAg>aGg p.K553R NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 553 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGCTGGAGAAGGACAGACTG 0.502000 119 103 0 0 0.870114 0 0 SCN1A 6323 broad.mit.edu 37 2 166901607 166901607 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:166901607G>A ENST00000423058.2 - 10 1625 c.1608C>T c.(1606-1608)ttC>ttT p.F536F AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F536F|SCN1A_ENST00000303395.4_Silent_p.F536F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F536F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 536 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTTCAATGGAGAAGCGAAAAC 0.428000 13 104 0 0 0.457914 0 0 OR5A2 219981 broad.mit.edu 37 11 59190242 59190242 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:59190242A>G ENST00000302040.4 - 1 207 c.185T>C c.(184-186)tTc>tCc p.F62S NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 ACTGAGGAAGAAGTACATGGG 0.488000 29 52 0 0 0.706142 0 0 NRG1 3084 broad.mit.edu 37 8 32505429 32505429 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:32505429G>A ENST00000520502.2 + 1 193 c.193G>A c.(193-195)Gag>Aag p.E65K NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 276 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCTAGAAGCTGAGCGCCTGAG 0.617000 10 21 0 0 0.335167 0 0 ABCB5 340273 broad.mit.edu 37 7 20762686 20762686 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:20762686G>T ENST00000404938.2 + 21 3121 c.2469G>T c.(2467-2469)atG>atT p.M823I ABCB5_ENST00000258738.6_Missense_Mutation_p.M378I NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 378 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CAACTAACATGGGACTTTCAG 0.378000 37 77 5.71845e-15 6.20134e-15 0.812448 1 0 KIAA0825 285600 broad.mit.edu 37 5 93859663 93859663 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:93859663C>G ENST00000513200.3 - 3 344 c.272G>C c.(271-273)gGa>gCa p.G91A KIAA0825_ENST00000427991.2_Missense_Mutation_p.G91A|KIAA0825_ENST00000329378.7_Missense_Mutation_p.G91A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.G91A NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 91 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 TATCAAGTCTCCATGAGAAAT 0.328000 6 14 0 0 0.248553 0 0 STRN3 29966 broad.mit.edu 37 14 31405711 31405711 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:31405711T>C ENST00000355683.5 - 6 1051 c.836A>G c.(835-837)aAt>aGt p.N279S STRN3_ENST00000357479.5_Missense_Mutation_p.N279S NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 279 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTTATGTTTATTCATCCGATG 0.328000 16 27 0 0 0.539581 0 0 KCNN3 3782 broad.mit.edu 37 1 154841649 154841649 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:154841649T>C ENST00000271915.3 - 1 1107 c.792A>G c.(790-792)caA>caG p.Q264Q NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 269 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGCCAATGTTTTGGTTTTTCC 0.512000 71 21 0 0 0.870114 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764323 138764323 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:138764323C>G ENST00000242351.5 - 4 1680 c.1364G>C c.(1363-1365)aGa>aCa p.R455T ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R455T|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R455T NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 455 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TGATATTTCTCTGTGACCGCT 0.468000 24 41 0 0 0.654019 0 0 PRKCG 5582 broad.mit.edu 37 19 54409999 54409999 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:54409999G>A ENST00000263431.3 + 18 2226 c.1944G>A c.(1942-1944)acG>acA p.T648T PRKCG_ENST00000540413.1_Silent_p.T648T|PRKCG_ENST00000542049.1_Silent_p.T499T NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 648 AGC-kinase C-terminal. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) AGTTCTTCACGCGGGCGGCGC 0.647000 OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 90 0 0 0.769981 0 0 CDKL2 8999 broad.mit.edu 37 4 76551024 76551024 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:76551024C>T ENST00000429927.2 - 2 852 c.149G>A c.(148-150)cGa>cAa p.R50Q CDKL2_ENST00000307465.4_Missense_Mutation_p.R50Q NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 50 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CTTGATTTCTCGCATTGCAAT 0.299000 13 35 0 0 0.435327 0 0 AGRN 375790 broad.mit.edu 37 1 981868 981868 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:981868C>T ENST00000379370.2 + 18 3053 c.3003C>T c.(3001-3003)ccC>ccT p.P1001P NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1001 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CGGCCCCCCCCGGCGCCCTCC 0.701000 4 26 0 0 0.184627 0 0 POU4F2 5458 broad.mit.edu 37 4 147561835 147561835 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:147561835C>T ENST00000281321.3 + 2 1353 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 369 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CATTCAGCCTCGGCCCTCCTC 0.577000 18 52 0 0 0.557998 0 0 SBF1 6305 broad.mit.edu 37 22 50904631 50904631 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:50904631G>A ENST00000380817.2 - 8 1028 c.845C>T c.(844-846)aCg>aTg p.T282M SBF1_ENST00000390679.3_Missense_Mutation_p.T282M|SBF1_ENST00000348911.6_Missense_Mutation_p.T283M NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 282 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GATGAAGGGCGTGGGTGTGCT 0.652000 20 42 0 0 0.608945 0 0 IFIH1 64135 broad.mit.edu 37 2 163144765 163144765 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:163144765G>A ENST00000263642.2 - 5 1370 c.975C>T c.(973-975)atC>atT p.I325I NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 325 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GGCAGATGATGATATTCTTCC 0.493000 27 66 0 0 0.717897 0 0 PLSCR4 57088 broad.mit.edu 37 3 145918834 145918834 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:145918834C>G ENST00000354952.2 - 5 625 c.385G>C c.(385-387)Gag>Cag p.E129Q PLSCR4_ENST00000493382.1_Missense_Mutation_p.E129Q|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.E129Q NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 129 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 TCCAGAGGCTCAAAATGCTGA 0.318000 8 39 0 0 0.278610 0 0 ATP10B 23120 broad.mit.edu 37 5 159992488 159992488 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:159992488C>T ENST00000327245.5 - 26 5204 c.4358G>A c.(4357-4359)cGc>cAc p.R1453H NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1453 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGGGATCGGCGATGGCTGCT 0.532000 29 66 0 0 0.740014 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103307 39103307 + Silent SNP G G A rs56029962 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:39103307G>A ENST00000591517.1 - 9 637 c.609C>T c.(607-609)atC>atT p.I203I MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.I203I|MAP4K1_ENST00000589130.1_Silent_p.I199I|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.I203I NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 203 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGATGGCCGTGATGCCCAGGG 0.627000 26 70 0 0 0.693898 0 0 SYNE1 23345 broad.mit.edu 37 6 152720763 152720763 + Nonsense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:152720763T>A ENST00000367255.5 - 48 7826 c.7225A>T c.(7225-7227)Aaa>Taa p.K2409* SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K2416*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K2409*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K2446*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K2416* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2409 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) CTGAAGTGTTTTTCCAGAGAT 0.493000 HNSCC(10;0.0054) 138 142 0 0 0.870114 0 0 ZYG11B 79699 broad.mit.edu 37 1 53262010 53262010 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:53262010G>C ENST00000294353.6 + 7 1526 c.1381G>C c.(1381-1383)Gat>Cat p.D461H ZYG11B_ENST00000443756.2_Missense_Mutation_p.D461H|ZYG11B_ENST00000545132.1_Missense_Mutation_p.D461H NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 461 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 CAACCATGAGGATCAAAACAT 0.433000 11 35 0 0 0.411799 0 0 SCYL1 57410 broad.mit.edu 37 11 65293810 65293810 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:65293810C>T ENST00000524944.1 + 4 624 c.591C>T c.(589-591)gtC>gtT p.V197V SCYL1_ENST00000270176.5_Silent_p.V197V|SCYL1_ENST00000279270.6_Silent_p.V197V|SCYL1_ENST00000527630.1_Silent_p.V197V|SCYL1_ENST00000525364.1_Silent_p.V197V|SCYL1_ENST00000420247.2_Silent_p.V197V|SCYL1_ENST00000527009.1_Silent_p.V54V|SCYL1_ENST00000533862.1_Silent_p.V197V Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 197 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 GCAGAGTGGTCAGAGAGAAGT 0.662000 5 33 0 0 0.217242 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579545 35579545 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:35579545G>C ENST00000373330.1 + 11 2288 c.2114G>C c.(2113-2115)gGa>gCa p.G705A ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G705A Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 705 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGCAAATTGGAGTTGATATG 0.353000 8 43 0 0 0.278610 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 50 0 0 0.150653 0 0 HAUS6 54801 broad.mit.edu 37 9 19058235 19058235 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:19058235G>C ENST00000380502.3 - 16 2997 c.2530C>G c.(2530-2532)Ctt>Gtt p.L844V HAUS6_ENST00000380496.1_Missense_Mutation_p.L708V NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 844 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCTTGGAAAGAGATTTCTTC 0.433000 29 353 0 0 0.717897 0 0 CXorf40A 91966 broad.mit.edu 37 X 148628500 148628500 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:148628500G>C ENST00000441248.1 + 4 2056 c.469G>C c.(469-471)Gaa>Caa p.E157Q CXorf40A_ENST00000423421.1_Missense_Mutation_p.E157Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.E157Q|CXorf40A_ENST00000422892.2_Intron|CXorf40A_ENST00000434353.2_Intron|CXorf40A_ENST00000393985.3_Missense_Mutation_p.E157Q|CXorf40A_ENST00000359293.5_Missense_Mutation_p.E157Q|CXorf40A_ENST00000514208.1_Intron|CXorf40A_ENST00000423540.2_Missense_Mutation_p.E157Q|CXorf40A_ENST00000428236.1_Missense_Mutation_p.E95Q Q8TE69 CX04A_HUMAN chromosome X open reading frame 40A 157 protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ATTGGGGCATGAAGTGTGACA 0.478000 4 11 0 0 0.361761 0 0 ZNF560 147741 broad.mit.edu 37 19 9578107 9578107 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:9578107G>C ENST00000301480.4 - 10 1729 c.1516C>G c.(1516-1518)Cat>Gat p.H506D NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTTCTCAAATGAGCAAAAAGA 0.413000 13 93 0 0 0.435327 0 0 POTEC 388468 broad.mit.edu 37 18 14513720 14513720 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:14513720C>T ENST00000358970.5 - 10 1473 c.1474G>A c.(1474-1476)Gag>Aag p.E492K NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 492 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GTCAGAATCTCATCTTGTGAT 0.313000 4 36 0 0 0.184627 0 0 TLK1 9874 broad.mit.edu 37 2 171854298 171854298 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:171854298T>C ENST00000442919.2 - 19 2411 c.1796A>G c.(1795-1797)gAg>gGg p.E599G TLK1_ENST00000434911.2_Missense_Mutation_p.E551G|TLK1_ENST00000431350.2_Missense_Mutation_p.E647G|TLK1_ENST00000521943.1_Missense_Mutation_p.E599G|TLK1_ENST00000360843.3_Missense_Mutation_p.E668G NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 647 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CTTTGGTGGCTCTTTTCCAAC 0.373000 94 94 0 0 0.870114 0 0 MS4A3 932 broad.mit.edu 37 11 59829989 59829989 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:59829989C>T ENST00000278865.3 + 3 278 c.205C>T c.(205-207)Ctg>Ttg p.L69L MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 69 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) GGGTGTCTTTCTGGGTTCCTT 0.453000 25 102 0 0 0.681144 0 0 VARS 7407 broad.mit.edu 37 6 31750118 31750118 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:31750118G>C ENST00000375663.3 - 17 2534 c.2094C>G c.(2092-2094)ctC>ctG p.L698L VARS_ENST00000444930.2_3'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 698 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GCAGGATGCGGAGGTCACCCC 0.667000 6 15 0 0 0.217242 0 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A rs17849781 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:7577106G>A ENST00000420246.2 - 8 964 c.832C>T c.(832-834)Cct>Tct p.P278S TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(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) TCTCTCCCAGGACAGGCACAA 0.552000 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) 9 32 0 0 0.335167 0 0 MMRN1 22915 broad.mit.edu 37 4 90857798 90857798 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:90857798G>A ENST00000394980.1 + 7 3286 c.2967G>A c.(2965-2967)tcG>tcA p.S989S MMRN1_ENST00000508372.1_Silent_p.S731S|MMRN1_ENST00000264790.2_Silent_p.S989S|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 989 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TAGATCGATCGTTGCCTGGTA 0.353000 36 16 0 0 0.796494 0 0 SYNE2 23224 broad.mit.edu 37 14 64564771 64564771 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:64564771G>C ENST00000357395.3 + 63 12512 c.1368G>C c.(1366-1368)ttG>ttC p.L456F SYNE2_ENST00000555002.1_Missense_Mutation_p.L705F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4104F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L456F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4071F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4071F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4071 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCAGCATTTGAAGCAAGAAC 0.473000 6 73 0 0 0.217242 0 0 KDM5B 10765 broad.mit.edu 37 1 202702867 202702867 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:202702867G>A ENST00000367265.3 - 23 4735 c.3571C>T c.(3571-3573)Caa>Taa p.Q1191* KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1227* NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1191 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AGTTCACATTGAATCATAGGG 0.517000 21 47 0 0 0.592651 0 0 ISL2 64843 broad.mit.edu 37 15 76634064 76634064 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:76634064C>A ENST00000290759.4 + 6 1128 c.968C>A c.(967-969)tCc>tAc p.S323Y RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 323 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 CCCCAGGTCTCCTTCTCCGAG 0.677000 13 66 1.3612e-06 1.4347e-06 0.479597 1 0 GSX2 170825 broad.mit.edu 37 4 54967925 54967925 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:54967925C>G ENST00000326902.2 + 2 1065 c.751C>G c.(751-753)Cag>Gag p.Q251E GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 251 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AATCTGGTTTCAGAACCGCCG 0.567000 5 86 0 0 0.278610 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 42 0 0 0.184627 0 0 DMXL2 23312 broad.mit.edu 37 15 51778300 51778300 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:51778300G>C ENST00000251076.5 - 23 5739 c.5452C>G c.(5452-5454)Caa>Gaa p.Q1818E RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q1818E|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1182E NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1818 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTTGGTGTTTGTTCCAGTAAT 0.383000 30 27 0 0 0.769981 0 0 NCK2 8440 broad.mit.edu 37 2 106498397 106498397 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:106498397C>T ENST00000233154.4 + 4 1282 c.840C>T c.(838-840)ttC>ttT p.F280F NCK2_ENST00000393349.2_Silent_p.F280F|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 280 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GCGGGCGCTTCGCGGGCAGAG 0.672000 10 38 0 0 0.361761 0 0 XIRP2 129446 broad.mit.edu 37 2 168107923 168107923 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:168107923G>C ENST00000409195.1 + 9 10110 c.10021G>C c.(10021-10023)Gag>Cag p.E3341Q XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3119Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3341Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3166 actin cytoskeleton organization cell junction actin binding p.E3341Q(1) 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 CAGGGAATTTGAGCATGGCCC 0.393000 19 67 0 0 0.539581 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643210 94643210 + Missense_Mutation SNP G G A rs141790636 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:94643210G>A ENST00000260526.6 - 22 3045 c.2863C>T c.(2863-2865)Cgc>Tgc p.R955C ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 955 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTTTGCTTGCGTTCTGATTCC 0.343000 19 56 0 0 0.624587 0 0 CRYZ 1429 broad.mit.edu 37 1 75188946 75188946 + Silent SNP G G A rs146208357 byFrequency TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:75188946G>A ENST00000417775.1 - 4 624 c.120C>T c.(118-120)atC>atT p.I40I CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Silent_p.I40I|CRYZ_ENST00000340866.5_Silent_p.I40I NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin, zeta (quinone reductase) 40 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) CATGGACCTTGATTAGAACCT 0.408000 27 67 0 0 0.740014 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451422 38451422 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:38451422C>G ENST00000322350.5 + 19 2895 c.2549C>G c.(2548-2550)tCa>tGa p.S850* EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Nonsense_Mutation_p.S858*|EGFLAM_ENST00000397202.2_Nonsense_Mutation_p.S216*|EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.S616* NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 858 Laminin G-like 3. 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) TCCAGGGTGTCAGGATCAAGA 0.478000 38 297 0 0 0.847076 0 0 HYDIN 54768 broad.mit.edu 37 16 71212846 71212846 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:71212846C>T ENST00000393567.2 - 4 516 c.366G>A c.(364-366)ttG>ttA p.L122L HYDIN_ENST00000393550.2_Silent_p.L122L|HYDIN_ENST00000541601.1_Silent_p.L139L|HYDIN_ENST00000448089.2_Silent_p.L122L|HYDIN_ENST00000538248.1_Silent_p.L149L|HYDIN_ENST00000448691.1_Silent_p.L122L|HYDIN_ENST00000321489.5_Silent_p.L122L|HYDIN_ENST00000288168.10_Silent_p.L139L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 122 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CATTGTTCCTCAAAATCAGTG 0.403000 29 89 0 0 0.729181 0 0 NFKB1 4790 broad.mit.edu 37 4 103534639 103534639 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:103534639G>A ENST00000226574.4 + 23 3117 c.2650G>A c.(2650-2652)Gaa>Aaa p.E884K NFKB1_ENST00000505458.1_Missense_Mutation_p.E883K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E703K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E883K NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 883 Death.|Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GGGCTACACCGAAGCAATTGA 0.567000 8 21 0 0 0.307466 0 0 KRTAP22-1 337979 broad.mit.edu 37 21 31973557 31973557 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:31973557G>A ENST00000334680.2 + 1 144 c.118G>A c.(118-120)Gaa>Aaa p.E40K NM_181620.1 NP_853651.1 Q3MIV0 KR221_HUMAN keratin associated protein 22-1 40 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 8 ATGGTGTTATGAAAGATCTTG 0.483000 37 155 0 0 0.827153 0 0 CGN 57530 broad.mit.edu 37 1 151505015 151505015 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:151505015G>C ENST00000271636.7 + 14 2842 c.2709G>C c.(2707-2709)aaG>aaC p.K903N NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 897 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGCTGAGAAGACCTCTGGAG 0.522000 7 36 0 0 0.278610 0 0 KDM5B 10765 broad.mit.edu 37 1 202731854 202731854 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:202731854C>G ENST00000367265.3 - 7 2055 c.891G>C c.(889-891)aaG>aaC p.K297N KDM5B_ENST00000367264.2_Missense_Mutation_p.K333N NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 297 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TAGATCGACTCTTGGGCTTTT 0.393000 34 154 0 0 0.796494 0 0 ZNF761 388561 broad.mit.edu 37 19 53950463 53950463 + RNA SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:53950463G>C ENST00000454407.1 + 0 395 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GACTTCTAAAGACTCTTGGTA 0.443000 10 30 0 0 0.335167 0 0 RPS20 6224 broad.mit.edu 37 8 56985678 56985678 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:56985678C>T ENST00000519807.1 - 4 456 c.331G>A c.(331-333)Gag>Aag p.E111K RPS20_ENST00000520627.1_Missense_Mutation_p.E56K|RPS20_ENST00000521262.1_Missense_Mutation_p.E111K|RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000524349.1_Missense_Mutation_p.E56K|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000009589.3_Missense_Mutation_p.E111K NM_001146227.1 NP_001139699.1 P60866 RS20_HUMAN ribosomal protein S20 111 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) ACTTCCACCTCAACTCCTGGC 0.388000 18 33 0 0 0.608945 0 0 ZNF106 64397 broad.mit.edu 37 15 42742338 42742338 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:42742338G>A ENST00000263805.4 - 2 2389 c.2063C>T c.(2062-2064)tCt>tTt p.S688F ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TGTTTCATAAGATACATGAGA 0.453000 34 103 0 0 0.779181 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26898704 26898704 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:26898704G>A ENST00000374168.2 + 20 2021 c.1867G>A c.(1867-1869)Gag>Aag p.E623K RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E607K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E612K|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E632K NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 623 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TGACACACCAGAGGAAATCCT 0.567000 10 55 0 0 0.361761 0 0 S100A7A 338324 broad.mit.edu 37 1 153391671 153391671 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:153391671G>C ENST00000368729.4 + 3 249 c.192G>C c.(190-192)aaG>aaC p.K64N S100A7A_ENST00000329256.2_Missense_Mutation_p.K64N|S100A7A_ENST00000368728.2_Missense_Mutation_p.K64N NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 64 EF-hand 2. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAAAGGACAAGAATGAGGATA 0.423000 24 60 0 0 0.639603 0 0 SLC15A4 121260 broad.mit.edu 37 12 129293444 129293444 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:129293444G>C ENST00000266771.5 - 5 1186 c.1147C>G c.(1147-1149)Ctg>Gtg p.L383V SLC15A4_ENST00000544112.1_Missense_Mutation_p.L46V NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 383 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) TTGTCCTTCAGAGGGATGAGC 0.557000 19 67 0 0 0.575678 0 0 ZNF251 90987 broad.mit.edu 37 8 145948232 145948232 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:145948232C>T ENST00000292562.7 - 5 1088 c.813G>A c.(811-813)ggG>ggA p.G271G ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CAAAAGTTTTCCCACATTCAT 0.453000 26 21 0 0 0.706142 0 0 PAIP1 10605 broad.mit.edu 37 5 43527528 43527528 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:43527528C>G ENST00000306846.3 - 11 1622 c.1390G>C c.(1390-1392)Gaa>Caa p.E464Q PAIP1_ENST00000338972.4_Missense_Mutation_p.E352Q|PAIP1_ENST00000514514.1_3'UTR|PAIP1_ENST00000436644.2_Missense_Mutation_p.E385Q NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 464 PABPC1-interacting motif-1 (PAM1). 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) TCATAAGCTTCTTCTATCTCT 0.328000 11 81 0 0 0.387290 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 48 0 0 0.150653 0 0 RRS1 23212 broad.mit.edu 37 8 67341837 67341837 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:67341837G>A ENST00000320270.2 + 1 575 c.471G>A c.(469-471)ctG>ctA p.L157L NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 157 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AAGAATGGCTGATTGAGGTGC 0.637000 13 19 0 0 0.411799 0 0 NDUFA3 4696 broad.mit.edu 37 19 54606193 54606193 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:54606193G>A ENST00000485876.1 + 1 49 c.7G>A c.(7-9)Gcg>Acg p.A3T NDUFA3_ENST00000391763.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000303553.5_5'UTR|NDUFA3_ENST00000391764.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000391762.1_Missense_Mutation_p.A3T|NDUFA3_ENST00000471292.1_Missense_Mutation_p.A3T O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 3 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) AAAGATGGCTGCGAGTAAGTG 0.692000 OREG0003632|OREG0003682 type=REGULATORY REGION|Gene=BC035023|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=NDUFA3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 11 0 0 0.361761 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202613 118202613 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:118202613G>T ENST00000369230.3 + 3 397 c.251G>T c.(250-252)gGa>gTa p.G84V NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 84 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) TCATATTTTGGAACAGACAAG 0.348000 9 31 1.12685e-05 1.17752e-05 0.307466 1 0 SGCZ 137868 broad.mit.edu 37 8 14022158 14022158 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:14022158C>T ENST00000382080.1 - 5 1193 c.478G>A c.(478-480)Gat>Aat p.D160N RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.D113N NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 147 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACCCTGCCATCTTCACTGGCT 0.423000 14 29 0 0 0.435327 0 0 GPR112 139378 broad.mit.edu 37 X 135427079 135427079 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:135427079C>G ENST00000394143.1 + 6 1505 c.1214C>G c.(1213-1215)tCa>tGa p.S405* GPR112_ENST00000287534.4_Nonsense_Mutation_p.S342*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S405*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S200*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S200* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 405 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCTTTATTTTCAACTATTGAG 0.388000 25 49 0 0 0.706142 0 0 COX8A 1351 broad.mit.edu 37 11 63743743 63743743 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:63743743C>T ENST00000314133.3 + 2 235 c.161C>T c.(160-162)cCa>cTa p.P54L AP000721.4_ENST00000535431.1_Intron NM_004074.2 NP_004065.1 P10176 COX8A_HUMAN cytochrome c oxidase subunit VIIIA (ubiquitous) 54 respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity TTCCTCCTGCCAGCGGGCTGG 0.597000 100 135 0 0 0.870114 0 0 GABRG2 2566 broad.mit.edu 37 5 161569304 161569304 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:161569304C>A ENST00000356592.3 + 7 1364 c.904C>A c.(904-906)Cca>Aca p.P302T GABRG2_ENST00000361925.4_Missense_Mutation_p.P302T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P342T|GABRG2_ENST00000393933.4_Missense_Mutation_p.P207T NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 302 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GGATGCTGTTCCAGCCAGAAC 0.403000 64 22 7.59065e-32 8.3617e-32 0.870114 1 0 ZNF470 388566 broad.mit.edu 37 19 57088415 57088415 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:57088415G>C ENST00000330619.8 + 6 1304 c.618G>C c.(616-618)aaG>aaC p.K206N ZNF470_ENST00000391709.3_Missense_Mutation_p.K206N|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ATACAGATAAGAAAAGCTTAA 0.289000 23 19 0 0 0.654019 0 0 LPHN3 23284 broad.mit.edu 37 4 62897307 62897307 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:62897307C>T ENST00000512091.1 + 22 4113 c.3366C>T c.(3364-3366)ttC>ttT p.F1122F LPHN3_ENST00000507625.1_Silent_p.F1181F|LPHN3_ENST00000514996.1_Silent_p.F1113F|LPHN3_ENST00000508946.1_Silent_p.F1122F|LPHN3_ENST00000545650.1_Silent_p.F1122F|LPHN3_ENST00000514591.1_Silent_p.F1122F|LPHN3_ENST00000508693.1_Silent_p.F1190F|LPHN3_ENST00000507164.1_Silent_p.F1181F|LPHN3_ENST00000514157.1_Silent_p.F1113F|LPHN3_ENST00000506746.1_Silent_p.F1181F|LPHN3_ENST00000506700.1_Silent_p.F1113F|LPHN3_ENST00000509896.1_Silent_p.F1190F|LPHN3_ENST00000506720.1_Silent_p.F1190F|LPHN3_ENST00000511324.1_Silent_p.F1181F|LPHN3_ENST00000504896.1_Silent_p.F1122F Q9HAR2 LPHN3_HUMAN latrophilin 3 1100 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TATTTATTTTCCATTGTGTCC 0.333000 26 12 0 0 0.654019 0 0 SDC2 6383 broad.mit.edu 37 8 97620608 97620608 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:97620608G>C ENST00000302190.4 + 4 1273 c.352G>C c.(352-354)Gaa>Caa p.E118Q SDC2_ENST00000519914.1_Missense_Mutation_p.E89Q|SDC2_ENST00000518385.1_Missense_Mutation_p.E82Q|SDC2_ENST00000522911.1_Missense_Mutation_p.E89Q NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 118 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) CTCTGACTCAGAAAGGAAAAT 0.418000 7 28 0 0 0.278610 0 0 GARNL3 84253 broad.mit.edu 37 9 130119513 130119513 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:130119513G>C ENST00000373387.4 + 21 2303 c.1951G>C c.(1951-1953)Gac>Cac p.D651H GARNL3_ENST00000314904.5_Missense_Mutation_p.D651H|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D629H NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 651 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CTGTCTGTCTGACTCTCCCAT 0.522000 43 45 0 0 0.864702 0 0 PSMC2 5701 broad.mit.edu 37 7 103006550 103006550 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:103006550G>C ENST00000435765.1 + 10 1195 c.784G>C c.(784-786)Gaa>Caa p.E262Q PSMC2_ENST00000292644.3_Missense_Mutation_p.E262Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E125Q|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 262 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 mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TGAACTCTTTGAAATGGCCAG 0.323000 40 51 0 0 0.870114 0 0 ZNF433 163059 broad.mit.edu 37 19 12126809 12126809 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:12126809G>C ENST00000419886.2 - 5 1059 c.768C>G c.(766-768)ttC>ttG p.F256L CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.F291L|CTD-2006C1.2_ENST00000406892.2_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 GGGAAGAGCTGAAGGCTTTCC 0.433000 13 37 0 0 0.435327 0 0 DDX54 79039 broad.mit.edu 37 12 113599751 113599751 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:113599751C>G ENST00000314045.7 - 18 2274 c.2247G>C c.(2245-2247)aaG>aaC p.K749N DDX54_ENST00000306014.5_Missense_Mutation_p.K749N NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 749 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCTTAATCTTCTTCTTGTCTT 0.602000 40 100 0 0 0.834066 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007381 93007381 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:93007381G>C ENST00000268164.3 + 6 1131 c.894G>C c.(892-894)ttG>ttC p.L298F ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L277F NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 298 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CCGGCCTCTTGATGTATACCC 0.438000 3 14 0 0 0.115264 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504859 151504859 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:151504859G>C ENST00000317605.4 + 1 1783 c.678G>C c.(676-678)gaG>gaC p.E226D LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 226 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GCTCGGCAGAGAGCGACGCCT 0.647000 12 41 0 0 0.411799 0 0 SLC22A3 6581 broad.mit.edu 37 6 160857877 160857877 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:160857877G>C ENST00000392145.1 + 6 1068 c.1041G>C c.(1039-1041)atG>atC p.M347I SLC22A3_ENST00000275300.2_Missense_Mutation_p.M347I O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 347 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CTCCCCAAATGAGGAAATGCA 0.348000 16 33 0 0 0.520397 0 0 HMHA1 23526 broad.mit.edu 37 19 1085820 1085820 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:1085820G>A ENST00000313093.2 + 23 3457 c.3226G>A c.(3226-3228)Gag>Aag p.E1076K HMHA1_ENST00000590577.1_Missense_Mutation_p.E711K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E944K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1103K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E959K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1092K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1080K|HMHA1_ENST00000591169.1_3'UTR NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 1076 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) CGGCAGTGAGGAGCAGCTGGA 0.672000 12 18 0 0 0.479597 0 0 TNS3 64759 broad.mit.edu 37 7 47319949 47319949 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:47319949G>C ENST00000398879.1 - 29 4467 c.4101C>G c.(4099-4101)ctC>ctG p.L1367L TNS3_ENST00000311160.9_Silent_p.L1367L|TNS3_ENST00000355730.3_Silent_p.L1127L Q68CZ2 TENS3_HUMAN tensin 3 1367 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TCCGGAAGAAGAGCCTGTTGG 0.502000 8 37 0 0 0.387290 0 0 SSFA2 6744 broad.mit.edu 37 2 182767020 182767020 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:182767020G>C ENST00000431877.2 + 8 1419 c.1240G>C c.(1240-1242)Gaa>Caa p.E414Q SSFA2_ENST00000320370.7_Missense_Mutation_p.E414Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E261Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E414Q NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 414 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TGGTATTGTAGAATCCAAATT 0.368000 13 50 0 0 0.457914 0 0 CABIN1 23523 broad.mit.edu 37 22 24563212 24563212 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:24563212G>A ENST00000398319.2 + 32 5998 c.5613G>A c.(5611-5613)caG>caA p.Q1871Q CABIN1_ENST00000405822.2_Silent_p.Q1792Q|CABIN1_ENST00000337989.7_Silent_p.Q296Q|CABIN1_ENST00000263119.5_Silent_p.Q1871Q|CABIN1_ENST00000485008.1_3'UTR NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1871 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCAGGGCCAGAAGGGTGTGG 0.617000 3 43 0 0 0.150653 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69327605 69327605 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:69327605C>T ENST00000305363.4 + 2 142 c.78C>T c.(76-78)ttC>ttT p.F26F NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 26 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TCGTCATCTTCATATCCCTGA 0.423000 41 249 0 0 0.827153 0 0 CCDC28A 25901 broad.mit.edu 37 6 139106386 139106386 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:139106386G>A ENST00000332797.6 + 4 770 c.615G>A c.(613-615)caG>caA p.Q205Q NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 205 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CCATTGAACAGATGGAACATG 0.388000 53 45 0 0 0.870114 0 0 MS4A14 84689 broad.mit.edu 37 11 60183186 60183186 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:60183186G>A ENST00000300187.6 + 5 1022 c.745G>A c.(745-747)Gaa>Aaa p.E249K MS4A14_ENST00000531783.1_Missense_Mutation_p.E282K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.E232K|MS4A14_ENST00000531787.1_Missense_Mutation_p.E137K NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 249 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 GGAAGAAATTGAACCTTTGCC 0.383000 11 91 0 0 0.361761 0 0 TRIP12 9320 broad.mit.edu 37 2 230725127 230725127 + Silent SNP A A T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:230725127A>T ENST00000389044.4 - 3 387 c.219T>A c.(217-219)tcT>tcA p.S73S TRIP12_ENST00000543084.1_Silent_p.S73S|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Silent_p.S73S|TRIP12_ENST00000283943.5_Intron Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 34 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTTACCTTTTAGAAAGGTGTC 0.348000 60 36 0 0 0.870114 0 0 DDX60L 91351 broad.mit.edu 37 4 169393962 169393962 + Splice_Site SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:169393962T>C ENST00000511577.1 - 2 138 c.e2-2 DDX60L_ENST00000260184.7_Splice_Site|DDX60L_ENST00000515088.1_Splice_Site|DDX60L_ENST00000505890.1_Splice_Site Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ATGGCACCTCTGTAATAAAAG 0.343000 12 5 0 0 0.411799 0 0 TRIM9 114088 broad.mit.edu 37 14 51561183 51561183 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:51561183G>A ENST00000298355.3 - 1 1596 c.475C>T c.(475-477)Cag>Tag p.Q159* TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Q159*|TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Q159* NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 159 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TTGCTCTGCTGGTAGCGGTCA 0.617000 11 28 0 0 0.361761 0 0 ZNF208 7757 broad.mit.edu 37 19 22156005 22156005 + Missense_Mutation SNP A A T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:22156005A>T ENST00000397126.4 - 4 1979 c.1831T>A c.(1831-1833)Tgt>Agt p.C611S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CATTCTTCACATTTGTAGGGT 0.373000 27 23 0 0 0.750413 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52810452 52810452 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:52810452G>A ENST00000287727.3 + 18 4124 c.3952G>A c.(3952-3954)Gaa>Aaa p.E1318K ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E1318K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E1259K NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1318 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GTTTTTCCTAGAAAACGATGA 0.433000 20 49 0 0 0.654019 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554059 140554059 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:140554059G>A ENST00000231137.3 + 1 1817 c.1643G>A c.(1642-1644)cGc>cAc p.R548H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 548 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGTGCGCGTGCTGGTG 0.726000 50 29 0 0 0.870114 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401080 139401080 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:139401080C>T ENST00000277541.6 - 24 3988 c.3913G>A c.(3913-3915)Gag>Aag p.E1305K NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1305 EGF-like 33. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGACGGACTCGCAGCGGCGC 0.692000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 11 0 0 0.307466 0 0 UNC13C 440279 broad.mit.edu 37 15 54586136 54586136 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:54586136G>A ENST00000545554.1 + 10 3862 c.3862G>A c.(3862-3864)Gat>Aat p.D1288N UNC13C_ENST00000537900.1_Missense_Mutation_p.D1286N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1288N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1288 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAGAGTATGGGATGAAGATGA 0.358000 31 29 0 0 0.729181 0 0 HIST1H2AI 8329 broad.mit.edu 37 6 27776351 27776351 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:27776351G>C ENST00000358739.3 + 1 453 c.364G>C c.(364-366)Gag>Cag p.E122Q NM_003509.2 NP_003500.1 histone cluster 1, H2ai lung(3) 3 CAAGAAGACCGAGAGCCACCA 0.542000 24 20 0 0 0.654019 0 0 NBPF1 55672 broad.mit.edu 37 1 16893778 16893778 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:16893778G>A ENST00000430580.2 - 25 3622 c.2735C>T c.(2734-2736)tCa>tTa p.S912L NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 912 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGAAGGAGTTGAATAACATCT 0.483000 19 926 0 0 0.575678 0 0 LHPP 64077 broad.mit.edu 37 10 126172787 126172787 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:126172787C>T ENST00000368842.5 + 2 233 c.205C>T c.(205-207)Cag>Tag p.Q69* LHPP_ENST00000368839.1_Nonsense_Mutation_p.Q69*|LHPP_ENST00000392757.4_Nonsense_Mutation_p.Q69* NM_022126.3 NP_071409.3 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic pyrophosphate phosphatase 69 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity large_intestine(2)|lung(2) 4 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) GGGGCAGCTTCAGAGGCTGGG 0.627000 13 51 0 0 0.520397 0 0 NCLN 56926 broad.mit.edu 37 19 3192541 3192541 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:3192541C>T ENST00000246117.4 + 2 689 c.258C>T c.(256-258)ctC>ctT p.L86L NCLN_ENST00000590671.1_Silent_p.L12L NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 86 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCGTGCTCATGCGGCTAC 0.697000 6 18 0 0 0.217242 0 0 AKR1C4 1109 broad.mit.edu 37 10 5254582 5254582 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:5254582G>C ENST00000380448.1 + 8 827 c.574G>C c.(574-576)Gaa>Caa p.E192Q AKR1C4_ENST00000263126.1_Missense_Mutation_p.E192Q P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 192 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TCTAAAGGTAGAATGTCATCC 0.348000 11 30 0 0 0.387290 0 0 SF3B1 23451 broad.mit.edu 37 2 198265441 198265441 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:198265441C>T ENST00000335508.5 - 18 2807 c.2716G>A c.(2716-2718)Gag>Aag p.E906K NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 906 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTCATTACCTCTGTAGTCTGT 0.308000 Mis myelodysplastic syndrome 16 77 0 0 0.520397 0 0 TAT 6898 broad.mit.edu 37 16 71609874 71609874 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:71609874C>G ENST00000355962.4 - 3 424 c.291G>C c.(289-291)atG>atC p.M97I RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 97 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GGGCATCTTTCATTGCCTGGG 0.488000 20 87 0 0 0.639603 0 0 LRRK2 120892 broad.mit.edu 37 12 40689444 40689444 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:40689444G>A ENST00000298910.7 + 23 3152 c.3094G>A c.(3094-3096)Gaa>Aaa p.E1032K LRRK2_ENST00000343742.2_Missense_Mutation_p.E1032K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1032 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ACAGCTATGTGAAGTAAATTT 0.343000 5 29 0 0 0.217242 0 0 MAP3K19 80122 broad.mit.edu 37 2 135738606 135738606 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:135738606G>T ENST00000375845.3 - 9 3735 c.3705C>A c.(3703-3705)gcC>gcA p.A1235A MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Silent_p.A96A|MAP3K19_ENST00000392917.3_Silent_p.A367A|MAP3K19_ENST00000358371.4_Silent_p.A1122A|MAP3K19_ENST00000392918.3_Silent_p.A369A|MAP3K19_ENST00000375844.3_Silent_p.A417A NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TGACTTCTGGGGCCATCCAAT 0.502000 13 37 4.3838e-07 4.63051e-07 0.435327 1 0 RNF214 257160 broad.mit.edu 37 11 117110556 117110556 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:117110556C>T ENST00000530849.1 + 3 203 c.193C>T c.(193-195)Caa>Taa p.Q65* RNF214_ENST00000531287.1_Nonsense_Mutation_p.Q65*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.Q220*|RNF214_ENST00000300650.4_Nonsense_Mutation_p.Q220* Q8ND24 RN214_HUMAN ring finger protein 214 220 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) AAACACAGATCAAGATATTGA 0.318000 6 17 0 0 0.217242 0 0 FAT4 79633 broad.mit.edu 37 4 126238739 126238739 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:126238739C>G ENST00000394329.3 + 1 1186 c.1173C>G c.(1171-1173)aaC>aaG p.N391K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 391 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N391N(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCGCGGCCAACGGGAACATCT 0.607000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 21 0 0 0.217242 0 0 TTN 7273 broad.mit.edu 37 2 179640236 179640236 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:179640236C>T ENST00000589042.1 - 28 6579 c.6355G>A c.(6355-6357)Gaa>Aaa p.E2119K TTN_ENST00000591111.1_Missense_Mutation_p.E2119K|TTN_ENST00000342992.6_Missense_Mutation_p.E2119K|TTN_ENST00000460472.2_Missense_Mutation_p.E2073K|TTN_ENST00000342175.6_Missense_Mutation_p.E2073K|TTN_ENST00000359218.5_Missense_Mutation_p.E2073K|TTN_ENST00000360870.5_Missense_Mutation_p.E2119K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1882 Ig-like 10. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TCAGACCGTTCAATTTTGACA 0.493000 9 22 0 0 0.307466 0 0 GYS1 2997 broad.mit.edu 37 19 49484831 49484831 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:49484831G>T ENST00000323798.3 - 8 1321 c.1125C>A c.(1123-1125)ttC>ttA p.F375L GYS1_ENST00000544287.1_Missense_Mutation_p.F8L|GYS1_ENST00000541188.1_Missense_Mutation_p.F295L|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.F311L NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 375 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TTTCCACGTTGAAATTGTTGG 0.587000 4 33 0.00198382 0.00202957 0.248553 1 0 CRNN 49860 broad.mit.edu 37 1 152382205 152382205 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:152382205C>G ENST00000271835.3 - 3 1415 c.1353G>C c.(1351-1353)gtG>gtC p.V451V RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 451 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGAGGATCACTGTCTCCC 0.577000 16 56 0 0 0.500413 0 0 XYLT1 64131 broad.mit.edu 37 16 17221547 17221547 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:17221547G>A ENST00000261381.6 - 10 2283 c.2199C>T c.(2197-2199)gaC>gaT p.D733D NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 733 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCTCCCAAAGTCACTGGGTG 0.483000 114 93 0 0 0.870114 0 0 PIGO 84720 broad.mit.edu 37 9 35092757 35092757 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:35092757C>T ENST00000378617.3 - 7 1521 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q PIGO_ENST00000361778.2_Missense_Mutation_p.R376Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R376Q|PIGO_ENST00000341666.3_Missense_Mutation_p.R376Q NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 376 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATGAAGAAATCGGGACACCTG 0.512000 25 17 0 0 0.681144 0 0 OR5B3 441608 broad.mit.edu 37 11 58170596 58170596 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:58170596G>C ENST00000309403.2 - 1 286 c.287C>G c.(286-288)gCt>gGt p.A96G NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATTTGAGCAGCACATGCATT 0.448000 24 87 0 0 0.639603 0 0 HDAC4 9759 broad.mit.edu 37 2 239990186 239990186 + Splice_Site SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:239990186T>C ENST00000345617.3 - 23 3644 c.2854_splice c.e23+1 p.R951_splice HDAC4_ENST00000543185.1_Splice_Site_p.R535_splice NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 951 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACCACTTACATCTGGCGGAGA 0.572000 4 22 0 0 0.150653 0 0 ACAP2 23527 broad.mit.edu 37 3 195015475 195015475 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:195015475C>A ENST00000326793.6 - 18 1968 c.1738G>T c.(1738-1740)Gtg>Ttg p.V580L NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 580 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 TTGGCTGACACCGTGGAGGGT 0.363000 8 54 2.17888e-05 2.26715e-05 0.335167 1 0 CXorf40B 541578 broad.mit.edu 37 X 149100770 149100770 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:149100770C>G ENST00000370406.3 - 5 1297 c.469G>C c.(469-471)Gaa>Caa p.E157Q CXorf40B_ENST00000370404.1_Missense_Mutation_p.E157Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.E157Q|CXorf40B_ENST00000462691.1_Intron Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 157 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) TGTCACACTTCATGCCCCAAA 0.483000 13 84 0 0 0.435327 0 0 DLST 1743 broad.mit.edu 37 14 75359641 75359641 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:75359641C>T ENST00000334220.4 + 8 608 c.547C>T c.(547-549)Cag>Tag p.Q183* DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Nonsense_Mutation_p.Q97* NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 183 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) CATACCCACTCAGATGCCACC 0.587000 18 21 0 0 0.592651 0 0 PTPRT 11122 broad.mit.edu 37 20 40980908 40980908 + Silent SNP G G T rs9941770 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:40980908G>T ENST00000373198.3 - 10 1813 c.1578C>A c.(1576-1578)gtC>gtA p.V526V PTPRT_ENST00000356100.2_Silent_p.V526V|PTPRT_ENST00000373193.3_Silent_p.V526V|PTPRT_ENST00000373190.1_Silent_p.V526V|PTPRT_ENST00000373201.1_Silent_p.V526V|PTPRT_ENST00000373187.1_Silent_p.V526V|PTPRT_ENST00000373184.1_Silent_p.V526V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 526 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCAGCGAGCCGACAGCCTTGT 0.522000 10 48 1.05317e-09 1.12216e-09 0.457914 1 0 KIF23 9493 broad.mit.edu 37 15 69739225 69739225 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:69739225G>A ENST00000260363.4 + 22 2929 c.2812G>A c.(2812-2814)Gag>Aag p.E938K KIF23_ENST00000352331.4_Missense_Mutation_p.E834K|KIF23_ENST00000395392.2_Missense_Mutation_p.E930K|KIF23_ENST00000537891.1_Missense_Mutation_p.E651K|KIF23_ENST00000558585.1_Missense_Mutation_p.E651K|KIF23_ENST00000559279.1_Missense_Mutation_p.E834K NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 938 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TGTGGCTGTGGAGATGAGAGC 0.468000 13 70 0 0 0.457914 0 0 BTD 686 broad.mit.edu 37 3 15677117 15677117 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:15677117C>T ENST00000383778.4 + 2 529 c.171C>T c.(169-171)atC>atT p.I57I BTD_ENST00000303498.5_Silent_p.I77I|BTD_ENST00000437172.1_Silent_p.I79I|BTD_ENST00000449107.1_Silent_p.I79I|BTD_ENST00000482824.1_3'UTR P43251 BTD_HUMAN biotinidase 77 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 TGGCTCTCATCAGCCGCCAAG 0.542000 30 54 0 0 0.740014 0 0 WNT3 7473 broad.mit.edu 37 17 44851102 44851102 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:44851102C>T ENST00000225512.5 - 2 416 c.254G>A c.(253-255)cGg>cAg p.R85Q NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 85 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) GCGGCGGCCCCGGAACTGGTG 0.647000 34 16 0 0 0.812448 0 0 CKM 1158 broad.mit.edu 37 19 45818846 45818846 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:45818846C>A ENST00000221476.3 - 4 532 c.358G>T c.(358-360)Gac>Tac p.D120Y NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 120 creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GGGTCCAGGTCGTCTCCACCC 0.677000 10 25 2.17888e-05 2.26715e-05 0.335167 1 0 EXOC4 60412 broad.mit.edu 37 7 133059592 133059592 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:133059592G>A ENST00000253861.4 + 7 1047 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K EXOC4_ENST00000539845.1_Missense_Mutation_p.E239K|EXOC4_ENST00000393161.2_Missense_Mutation_p.E340K NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 340 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTTGCTTCTAGAACTGCTGGA 0.423000 17 39 0 0 0.520397 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627116 43627116 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:43627116G>A ENST00000332857.6 - 4 1599 c.1571C>T c.(1570-1572)tCg>tTg p.S524L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TTTATTCTGCGATGCAGGGCA 0.507000 70 336 0 0 0.870114 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034048 52034048 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:52034048G>A ENST00000346477.3 - 3 661 c.593C>T c.(592-594)tCg>tTg p.S198L SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S198L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S162L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S187L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 198 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTGAGCACCGAGGACTGGGT 0.652000 19 66 0 0 0.575678 0 0 KIF6 221458 broad.mit.edu 37 6 39688494 39688494 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:39688494C>T ENST00000287152.7 - 2 254 c.160G>A c.(160-162)Gaa>Aaa p.E54K KIF6_ENST00000538893.1_Missense_Mutation_p.E54K|KIF6_ENST00000373216.3_Missense_Mutation_p.E54K|KIF6_ENST00000373215.3_Missense_Mutation_p.E54K NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 54 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTGTAGCTTTCTCGCTTATTA 0.299000 15 25 0 0 0.500413 0 0 LRRC25 126364 broad.mit.edu 37 19 18507145 18507145 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:18507145C>A ENST00000339007.3 - 1 1282 c.629G>T c.(628-630)gGg>gTg p.G210V LRRC25_ENST00000595840.1_Missense_Mutation_p.G210V NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 210 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 GGGCTTGGGCCCATCCTGAGC 0.667000 4 49 0.150653 0.152213 0.150653 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140737171 140737171 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:140737171G>C ENST00000571252.1 + 1 2404 c.2404G>C c.(2404-2406)Gga>Cga p.G802R PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAACAAAAGGAGACCCTAA 0.393000 11 26 0 0 0.361761 0 0 DNAH11 8701 broad.mit.edu 37 7 21599363 21599363 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:21599363G>C ENST00000328843.6 + 4 866 c.835G>C c.(835-837)Gat>Cat p.D279H DNAH11_ENST00000409508.3_Missense_Mutation_p.D279H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 279 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGCAGAACTAGATTTCTGGAT 0.358000 Kartagener syndrome 7 8 0 0 0.307466 0 0 HK2 3099 broad.mit.edu 37 2 75115157 75115157 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:75115157G>C ENST00000290573.2 + 16 2947 c.2347G>C c.(2347-2349)Gaa>Caa p.E783Q HK2_ENST00000409174.1_Missense_Mutation_p.E755Q NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 783 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GGGCATCTTTGAAACCAAGTT 0.512000 17 58 0 0 0.520397 0 0 ARG2 384 broad.mit.edu 37 14 68086772 68086772 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:68086772G>A ENST00000261783.3 + 1 258 c.78G>A c.(76-78)gtG>gtA p.V26V ARG2_ENST00000556491.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 26 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TCCACTCCGTGGCTGTGATAG 0.622000 8 15 0 0 0.307466 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421736 62421736 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:62421736G>C ENST00000245663.4 - 2 525 c.375C>G c.(373-375)atC>atG p.I125M ZBTB46_ENST00000395104.1_Missense_Mutation_p.I125M|ZBTB46_ENST00000302995.2_Missense_Mutation_p.I125M NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCGCCGCCTTGATGAAGTCGT 0.612000 5 22 0 0 0.361761 0 0 THBS2 7058 broad.mit.edu 37 6 169640633 169640633 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:169640633T>G ENST00000366787.3 - 7 1195 c.946A>C c.(946-948)Aac>Cac p.N316H NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 316 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCTGACATGTTCCTTGTCTTA 0.483000 27 24 0 0 0.750413 0 0 CHN1 1123 broad.mit.edu 37 2 175666502 175666502 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:175666502C>T ENST00000409900.3 - 12 1454 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K CHN1_ENST00000409597.1_Missense_Mutation_p.E197K|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.E256K|CHN1_ENST00000409156.3_Missense_Mutation_p.E355K NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 381 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TTCAGTGCTTCATGAAGGGTT 0.408000 T TAF15 extraskeletal myxoid chondrosarcoma 30 107 0 0 0.740014 0 0 MKL1 57591 broad.mit.edu 37 22 40816975 40816975 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:40816975G>A ENST00000396617.3 - 10 1347 c.757C>T c.(757-759)Ccc>Tcc p.P253S MKL1_ENST00000355630.3_Missense_Mutation_p.P253S|MKL1_ENST00000402042.1_Missense_Mutation_p.P203S|MKL1_ENST00000407029.1_Missense_Mutation_p.P253S Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 253 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 TCCATGGGGGGTGCCCCCCTG 0.592000 T RBM15 acute megakaryocytic leukemia 32 25 0 0 0.760397 0 0 MAP3K13 9175 broad.mit.edu 37 3 185183579 185183579 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:185183579G>A ENST00000265026.3 + 9 1767 c.1433G>A c.(1432-1434)cGg>cAg p.R478Q MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334Q NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 478 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding p.R478L(2) NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAGCTTGAGCGGGCGAATAAT 0.473000 19 87 0 0 0.557998 0 0 CRELD1 78987 broad.mit.edu 37 3 9979744 9979744 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:9979744C>T ENST00000383811.3 + 4 1013 c.414C>T c.(412-414)tcC>tcT p.S138S CRELD1_ENST00000452070.1_Silent_p.S138S|CRELD1_ENST00000397170.3_Silent_p.S138S|CRELD1_ENST00000326434.5_Silent_p.S138S NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 138 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 GCTCAGATTCCCTGAAGCTCT 0.632000 19 5 0 0 0.639603 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976647 41976647 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:41976647C>G ENST00000372584.1 - 8 7707 c.6693G>C c.(6691-6693)ctG>ctC p.L2231L HIVEP3_ENST00000429157.2_Silent_p.L2231L|HIVEP3_ENST00000372583.1_Silent_p.L2232L|HIVEP3_ENST00000247584.5_Silent_p.L2232L|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2232 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCCCCTGTCAGGTCGCTGC 0.692000 21 37 0 0 0.654019 0 0 ADGRG6 57211 broad.mit.edu 37 6 142718791 142718791 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:142718791A>G ENST00000230173.6 + 10 1942 c.1466A>G c.(1465-1467)aAt>aGt p.N489S GPR126_ENST00000296932.8_Missense_Mutation_p.N461S|GPR126_ENST00000367608.2_Missense_Mutation_p.N461S|GPR126_ENST00000367609.3_Missense_Mutation_p.N489S NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 489 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCTACCAACAATACTAATTTG 0.398000 29 23 0 0 0.729181 0 0 ZNF618 114991 broad.mit.edu 37 9 116794974 116794974 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:116794974T>G ENST00000288466.7 + 11 954 c.855T>G c.(853-855)ttT>ttG p.F285L ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.F378L NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 AAAACCACTTTGAAGAGACGA 0.562000 39 71 0 0 0.812448 0 0 NOL12 79159 broad.mit.edu 37 22 38084953 38084953 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:38084953A>G ENST00000359114.4 + 4 405 c.335A>G c.(334-336)gAc>gGc p.D112G RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR NM_024313.2 NP_077289.1 Q9UGY1 NOL12_HUMAN nucleolar protein 12 112 nucleolus rRNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 8 Melanoma(58;0.0574) ACCATCAGTGACCTGGACCTC 0.647000 32 109 0 0 0.788014 0 0 OR51A7 119687 broad.mit.edu 37 11 4929349 4929349 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:4929349C>A ENST00000359350.4 + 1 750 c.750C>A c.(748-750)ttC>ttA p.F250L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTCACCTTCTATGTGCCCA 0.483000 40 56 4.17593e-13 4.49858e-13 0.834066 1 0 GPATCH2L 55668 broad.mit.edu 37 14 76621245 76621245 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:76621245C>G ENST00000261530.7 + 2 605 c.539C>G c.(538-540)tCa>tGa p.S180* GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.S180*|GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.S180*|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.S180* NM_017926.2 NP_060396.2 G patch domain containing 2-like TGGACCTCATCAGGCCACGGA 0.483000 6 19 0 0 0.217242 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154808 9154808 + Splice_Site SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:9154808C>G ENST00000382496.5 - 12 1939 c.e12-1 NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GTTCCGTAATCTATGAAGGTC 0.498000 29 130 0 0 0.729181 0 0 TDRD5 163589 broad.mit.edu 37 1 179603612 179603612 + Nonsense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:179603612G>T ENST00000444136.1 + 8 1397 c.1147G>T c.(1147-1149)Gaa>Taa p.E383* TDRD5_ENST00000367614.1_Nonsense_Mutation_p.E383*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.E383* NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 383 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TAAGAAAATAGAAGCCAAAGC 0.383000 22 72 6.32553e-13 6.79925e-13 0.681144 1 0 ERC2 26059 broad.mit.edu 37 3 55984542 55984542 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:55984542G>A ENST00000288221.6 - 13 2569 c.2314C>T c.(2314-2316)Caa>Taa p.Q772* NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 772 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCCAACTGTTGATTGTGCTTG 0.433000 14 30 0 0 0.500413 0 0 DLST 1743 broad.mit.edu 37 14 75361017 75361017 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:75361017G>C ENST00000334220.4 + 10 736 c.675G>C c.(673-675)gaG>gaC p.E225D DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.E139D NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 225 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) ACTTTCAGGAGAAAATGAACA 0.473000 47 83 0 0 0.870114 0 0 HAS1 3036 broad.mit.edu 37 19 52217097 52217097 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:52217097G>A ENST00000540069.2 - 5 1377 c.1317C>T c.(1315-1317)ggC>ggT p.G439G HAS1_ENST00000601714.1_Silent_p.G447G|HAS1_ENST00000222115.1_Silent_p.G440G Q92839 HAS1_HUMAN hyaluronan synthase 1 440 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCAGTGCCACGCCCTGCACGC 0.697000 7 13 0 0 0.248553 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606428 6606428 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:6606428G>A ENST00000433363.2 - 5 810 c.577C>T c.(577-579)Ctg>Ttg p.L193L SLC13A5_ENST00000381074.4_Silent_p.L150L|SLC13A5_ENST00000293800.6_Silent_p.L176L|SLC13A5_ENST00000573648.1_Silent_p.L193L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 193 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 TGCTGCCCCAGAGTGGGGCCT 0.632000 25 77 0 0 0.693898 0 0 SOX7 83595 broad.mit.edu 37 8 10683716 10683716 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:10683716C>T ENST00000554914.1 - 5 430 c.340G>A c.(340-342)Gag>Aag p.E114K PINX1_ENST00000314787.3_Missense_Mutation_p.E114K|SOX7_ENST00000553390.1_Missense_Mutation_p.E114K|PINX1_ENST00000519088.1_Missense_Mutation_p.E114K|PINX1_ENST00000426190.2_Missense_Mutation_p.E112K Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 55 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GACTTTTCCTCAAGGCTAAAA 0.299000 12 6 0 0 0.411799 0 0 TRPM7 54822 broad.mit.edu 37 15 50866605 50866605 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:50866605C>G ENST00000313478.7 - 36 5455 c.5174G>C c.(5173-5175)gGa>gCa p.G1725A TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.G1724A NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1725 Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCTAAATTCTCCAGTCATACA 0.343000 4 31 0 0 0.184627 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445600 32445600 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:32445600C>G ENST00000282587.5 + 14 1241 c.1204C>G c.(1204-1206)Cta>Gta p.L402V SLC30A6_ENST00000357055.3_Missense_Mutation_p.L205V|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L442V|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L373V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L379V|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L328V NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 402 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AGTTATTCTTCTAAACACACA 0.418000 82 24 0 0 0.870114 0 0 PTENP1 11191 broad.mit.edu 37 9 33675981 33675981 + RNA SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:33675981C>G ENST00000532280.1 - 0 1516 NR_023917.1 AGGAATACATCTTCACCTTTA 0.448000 23 100 0 0 0.654019 0 0 AOC1 26 broad.mit.edu 37 7 150554438 150554438 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:150554438C>A ENST00000493429.1 + 4 1464 c.880C>A c.(880-882)Ccc>Acc p.P294T AOC1_ENST00000416793.2_Missense_Mutation_p.P294T|AOC1_ENST00000360937.4_Missense_Mutation_p.P294T|AOC1_ENST00000467291.1_Missense_Mutation_p.P294T amine oxidase, copper containing 1 CTTCCCCAGCCCCATCCATGT 0.701000 5 4 0.184627 0.186153 0.184627 1 0 LRP1B 53353 broad.mit.edu 37 2 141771238 141771238 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:141771238T>C ENST00000389484.3 - 14 3238 c.2267A>G c.(2266-2268)tAt>tGt p.Y756C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 756 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCATTCATATAATCAGTCCA 0.388000 TSP Lung(27;0.18) 45 52 0 0 0.864702 0 0 VEPH1 79674 broad.mit.edu 37 3 156978935 156978935 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:156978935G>C ENST00000362010.2 - 14 2797 c.2490C>G c.(2488-2490)acC>acG p.T830T VEPH1_ENST00000392833.2_Silent_p.T785T|VEPH1_ENST00000543418.1_Silent_p.T785T|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.T830T NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 830 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) ACAGATATGTGGTTACTTCTC 0.408000 14 74 0 0 0.479597 0 0 EP300 2033 broad.mit.edu 37 22 41573260 41573260 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:41573260T>C ENST00000263253.7 + 31 6764 c.5545T>C c.(5545-5547)Tcc>Ccc p.S1849P RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1849 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGGCCTCCCTTCCCCCACTCC 0.637000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 3 53 0 0 0.335167 0 0 CA3 761 broad.mit.edu 37 8 86360296 86360296 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:86360296G>A ENST00000285381.2 + 7 780 c.697G>A c.(697-699)Gag>Aag p.E233K RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 233 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTCCAGTGCTGAGAACGAGCC 0.542000 14 17 0 0 0.435327 0 0 XPO4 64328 broad.mit.edu 37 13 21417053 21417053 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:21417053C>G ENST00000400602.2 - 6 743 c.708G>C c.(706-708)tgG>tgC p.W236C XPO4_ENST00000255305.6_Missense_Mutation_p.W236C NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 236 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GAAGAAAGTTCCAGCTCAAGA 0.408000 7 20 0 0 0.248553 0 0 SERINC4 619189 broad.mit.edu 37 15 44087395 44087395 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:44087395G>T ENST00000319327.6 - 12 1594 c.1360C>A c.(1360-1362)Ctg>Atg p.L454M SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Missense_Mutation_p.L210M|SERINC4_ENST00000299969.6_Missense_Mutation_p.N379K NM_001258031.1 NP_001244960.1 A6NH21 SERC4_HUMAN serine incorporator 4 454 phospholipid biosynthetic process integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 6 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) GTCTTTTCCAGTTCTGCTCCC 0.507000 11 33 2.27111e-07 2.40413e-07 0.411799 1 0 EIF5 1983 broad.mit.edu 37 14 103807372 103807372 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:103807372G>C ENST00000216554.3 + 12 1955 c.1279G>C c.(1279-1281)Gat>Cat p.D427H EIF5_ENST00000392715.2_Missense_Mutation_p.D427H|EIF5_ENST00000558506.1_Missense_Mutation_p.D427H NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 427 Asp-rich (acidic). regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity p.D425fs*>5(1) breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) TGACGACATCGATATTGATGC 0.403000 7 42 0 0 0.278610 0 0 ARFRP1 10139 broad.mit.edu 37 20 62338354 62338354 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:62338354C>G ENST00000359715.4 - 1 656 c.90G>C c.(88-90)aaG>aaC p.K30N ARFRP1_ENST00000440854.1_Missense_Mutation_p.K30N|ARFRP1_ENST00000324228.2_Missense_Mutation_p.K30N Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 30 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CACTCACCGTCTTCCCAGCAT 0.607000 7 22 0 0 0.335167 0 0 TOP2B 7155 broad.mit.edu 37 3 25666199 25666199 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:25666199C>T ENST00000435706.2 - 19 2506 c.2305G>A c.(2305-2307)Gag>Aag p.E769K TOP2B_ENST00000264331.4_Missense_Mutation_p.E774K Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 774 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GCCGACATCTCAGCAACAGAG 0.363000 4 14 0 0 0.184627 0 0 GLG1 2734 broad.mit.edu 37 16 74527006 74527006 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:74527006C>G ENST00000422840.2 - 7 1082 c.1083G>C c.(1081-1083)ctG>ctC p.L361L GLG1_ENST00000447066.2_Silent_p.L350L|GLG1_ENST00000205061.5_Silent_p.L361L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 361 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CCTGGGCAATCAGCTTTTGGC 0.453000 22 62 0 0 0.681144 0 0 NCOR2 9612 broad.mit.edu 37 12 124957522 124957522 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:124957522C>T ENST00000356219.3 - 5 722 c.567G>A c.(565-567)caG>caA p.Q189Q NCOR2_ENST00000429285.2_Silent_p.Q189Q|NCOR2_ENST00000405201.1_Silent_p.Q189Q|NCOR2_ENST00000404621.1_Silent_p.Q189Q|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Silent_p.Q189Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 189 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTTAGAGATCTGCTGCTCTA 0.577000 30 77 0 0 0.779181 0 0 LRP5 4041 broad.mit.edu 37 11 68179074 68179074 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:68179074C>T ENST00000294304.7 + 11 2595 c.2489C>T c.(2488-2490)tCg>tTg p.S830L NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 830 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGATCGAGTCGTCCAACATG 0.657000 5 56 0 0 0.184627 0 0 SCML1 6322 broad.mit.edu 37 X 17762333 17762333 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:17762333C>G ENST00000380043.3 + 2 355 c.27C>G c.(25-27)atC>atG p.I9M SCML1_ENST00000398080.1_Intron|SCML1_ENST00000380045.3_Intron|SCML1_ENST00000380041.3_Missense_Mutation_p.I9M NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 9 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.I9M(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) CCAGTGAAATCGATGTGGTTT 0.328000 19 29 0 0 0.592651 0 0 TIMM13 26517 broad.mit.edu 37 19 2427036 2427036 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:2427036G>C ENST00000215570.3 - 3 558 c.198C>G c.(196-198)atC>atG p.I66M TIMM13_ENST00000591871.1_Missense_Mutation_p.I51M NM_012458.2 NP_036590.1 Q9Y5L4 TIM13_HUMAN translocase of inner mitochondrial membrane 13 homolog (yeast) 66 protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding endometrium(1)|prostate(1) 2 Hepatocellular(1079;0.137) 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) TGCACATGGCGATGCACTTCT 0.706000 5 7 0 0 0.217242 0 0 LRCH3 84859 broad.mit.edu 37 3 197553768 197553768 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:197553768G>C ENST00000438796.2 + 5 704 c.660G>C c.(658-660)ttG>ttC p.L220F LRCH3_ENST00000425562.2_Missense_Mutation_p.L220F|LRCH3_ENST00000414675.2_Missense_Mutation_p.L220F|LRCH3_ENST00000334859.4_Missense_Mutation_p.L220F|LRCH3_ENST00000441090.2_Missense_Mutation_p.L94F Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 220 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) AGTTGCCTTTGATACGGTTAG 0.383000 20 93 0 0 0.639603 0 0 PGBD2 267002 broad.mit.edu 37 1 249211397 249211397 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:249211397C>T ENST00000539153.1 + 4 860 c.605C>T c.(604-606)cCc>cTc p.P202L PGBD2_ENST00000329291.5_Missense_Mutation_p.P205L|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 205 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GAAACCTCTCCCGATTCACAT 0.398000 34 120 0 0 0.779181 0 0 SCD5 79966 broad.mit.edu 37 4 83719652 83719652 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:83719652G>C ENST00000319540.4 - 1 358 c.39C>G c.(37-39)ttC>ttG p.F13L SCD5_ENST00000273908.4_Missense_Mutation_p.F13L|SCD5_ENST00000282709.4_Missense_Mutation_p.F13L NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 13 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TGGCGTCGCAGAAAGGGATCT 0.736000 6 6 0 0 0.278610 0 0 TTC23L 153657 broad.mit.edu 37 5 34863022 34863022 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:34863022G>T ENST00000505624.1 + 5 502 c.399G>T c.(397-399)aaG>aaT p.K133N TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 133 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 TTCAGGCCAAGAAACATGCTA 0.478000 13 69 9.31168e-06 9.75129e-06 0.435327 1 0 MBTPS1 8720 broad.mit.edu 37 16 84089658 84089658 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:84089658C>T ENST00000343411.3 - 22 3409 c.2914G>A c.(2914-2916)Gtg>Atg p.V972M NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 972 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAGGGCCTCACTTGAGGGCGA 0.498000 40 32 0 0 0.847076 0 0 GPATCH3 63906 broad.mit.edu 37 1 27220788 27220788 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:27220788C>T ENST00000361720.5 - 3 1013 c.990G>A c.(988-990)gaG>gaA p.E330E NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 330 Glu-rich. intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AGCCACCCTTCTCCCACTTGA 0.582000 41 95 0 0 0.847076 0 0 SPATA5 166378 broad.mit.edu 37 4 123977581 123977581 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:123977581A>G ENST00000274008.3 + 12 2188 c.2119A>G c.(2119-2121)Aga>Gga p.R707G SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 707 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TGAATCTGAAAGAGCAGTTAG 0.383000 10 13 0 0 0.335167 0 0 ASXL3 80816 broad.mit.edu 37 18 31324115 31324115 + Missense_Mutation SNP G G C rs144287211 by1000genomes TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:31324115G>C ENST00000269197.5 + 12 4303 c.4303G>C c.(4303-4305)Gaa>Caa p.E1435Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTTAAGTGCTGAAAGCTTGGA 0.488000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 176 0 0 0.796494 0 0 MFSD2A 84879 broad.mit.edu 37 1 40434278 40434278 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:40434278G>A ENST00000372809.5 + 13 1572 c.1429G>A c.(1429-1431)Gaa>Aaa p.E477K MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E308K|MFSD2A_ENST00000372811.5_Missense_Mutation_p.E464K NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 477 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CTCGCAGCCGGAACGTGTCAA 0.587000 45 84 0 0 0.859065 0 0 FCF1 51077 broad.mit.edu 37 14 75181623 75181623 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:75181623C>G ENST00000341162.4 + 3 174 c.120C>G c.(118-120)ccC>ccG p.P40P FCF1_ENST00000553615.1_Silent_p.P25P|FCF1_ENST00000534938.2_Silent_p.P28P NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 40 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) AGAAGGATCCCAGCGCATTAA 0.353000 5 7 0 0 0.184627 0 0 COL1A2 1278 broad.mit.edu 37 7 94052411 94052411 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:94052411C>T ENST00000297268.6 + 40 3017 c.2546C>T c.(2545-2547)tCt>tTt p.S849F NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 849 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AAGGGTCCCTCTGGAGAGGCT 0.507000 HNSCC(75;0.22) 16 91 0 0 0.500413 0 0 DOCK2 1794 broad.mit.edu 37 5 169454870 169454870 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:169454870G>C ENST00000256935.8 + 34 3465 c.3385G>C c.(3385-3387)Gaa>Caa p.E1129Q DOCK2_ENST00000520908.1_Missense_Mutation_p.E621Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.E190Q|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1129 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTTCAGTTTGAAAACGAAAT 0.458000 15 43 0 0 0.520397 0 0 TKTL2 84076 broad.mit.edu 37 4 164393894 164393894 + Missense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:164393894T>A ENST00000280605.3 - 1 1153 c.993A>T c.(991-993)aaA>aaT p.K331N NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 331 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) cacggcccagtttagccagag 0.423000 28 82 0 0 0.740014 0 0 GRHL1 29841 broad.mit.edu 37 2 10136059 10136059 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:10136059C>T ENST00000324907.9 + 13 1688 c.1552C>T c.(1552-1554)Cct>Tct p.P518S GRHL1_ENST00000405379.2_Missense_Mutation_p.P518S|GRHL1_ENST00000324883.5_Missense_Mutation_p.P329S|GRHL1_ENST00000480736.1_5'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 518 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TGCTGTCCCTCCTTCTACCAA 0.458000 42 92 0 0 0.864702 0 0 EMC7 56851 broad.mit.edu 37 15 34382601 34382601 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:34382601G>C ENST00000256545.4 - 3 520 c.412C>G c.(412-414)Ctc>Gtc p.L138V NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 TTCATTTGGAGAGGATAGGGC 0.393000 15 60 0 0 0.500413 0 0 RASGRF1 5923 broad.mit.edu 37 15 79294085 79294085 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:79294085G>A ENST00000419573.3 - 17 2816 c.2542C>T c.(2542-2544)Cag>Tag p.Q848* RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q64*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q832* NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 850 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCATCACTCTGGTTTTGATCA 0.318000 47 58 0 0 0.870114 0 0 MCF2L2 23101 broad.mit.edu 37 3 182923663 182923663 + Splice_Site SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:182923663C>T ENST00000328913.3 - 25 3182 c.e25+1 MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000468976.1_Splice_Site NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGGTAACCTACCTTTGATATT 0.378000 3 21 0 0 0.115264 0 0 OR4K5 79317 broad.mit.edu 37 14 20388770 20388770 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:20388770A>G ENST00000315915.4 + 1 30 c.5A>G c.(4-6)gAt>gGt p.D2G NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAACCATGGATAAGTCCAAT 0.353000 8 41 0 0 0.335167 0 0 AVPR1B 553 broad.mit.edu 37 1 206225115 206225115 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:206225115G>C ENST00000367126.4 + 1 1140 c.675G>C c.(673-675)gaG>gaC p.E225D NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 225 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TCTGCCATGAGATCTGTAAAA 0.607000 23 79 0 0 0.639603 0 0 CDH8 1006 broad.mit.edu 37 16 61935158 61935158 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:61935158G>A ENST00000577390.1 - 3 1426 c.472C>T c.(472-474)Caa>Taa p.Q158* CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q158*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q158*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q158* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 158 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTGATGTCTTGAACTTTAATA 0.433000 19 62 0 0 0.557998 0 0 SYNE1 23345 broad.mit.edu 37 6 152841605 152841605 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:152841605C>T ENST00000367255.5 - 6 899 c.298G>A c.(298-300)Gaa>Aaa p.E100K SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 100 Actin-binding.|CH 1. 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 p.E100K(2) 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) TTTCTTCCTTCGAGGAACTTG 0.443000 HNSCC(10;0.0054) 40 137 0 0 0.859065 0 0 FLRT3 23767 broad.mit.edu 37 20 14306766 14306766 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:14306766C>G ENST00000378053.3 - 2 1643 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.E463Q NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 463 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) ACCAAGTACTCACTGCGTTCC 0.468000 16 32 0 0 0.479597 0 0 SPINT1 6692 broad.mit.edu 37 15 41148218 41148218 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:41148218G>A ENST00000344051.4 + 9 1528 c.1294G>A c.(1294-1296)Gag>Aag p.E432K SPINT1_ENST00000431806.1_Missense_Mutation_p.E416K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E416K O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 432 BPTI/Kunitz inhibitor 2. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GAACAACTTTGAGGAAGAGCA 0.577000 32 87 0 0 0.779181 0 0 BBS9 27241 broad.mit.edu 37 7 33388766 33388766 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:33388766C>T ENST00000242067.6 + 13 1937 c.1416C>T c.(1414-1416)ttC>ttT p.F472F BBS9_ENST00000355070.2_Silent_p.F472F|BBS9_ENST00000354265.4_Silent_p.F472F|BBS9_ENST00000350941.3_Silent_p.F472F|BBS9_ENST00000396127.2_Silent_p.F472F NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 472 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) GTGATCAGTTCACCTTTGAAT 0.333000 Bardet-Biedl syndrome 14 76 0 0 0.479597 0 0 SETDB1 9869 broad.mit.edu 37 1 150915471 150915471 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:150915471C>G ENST00000271640.5 + 7 1007 c.817C>G c.(817-819)Cag>Gag p.Q273E SETDB1_ENST00000368962.2_Missense_Mutation_p.Q273E|SETDB1_ENST00000368963.1_Intron|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q273E NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 273 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGATGGGAATCAGGTCTGGCT 0.517000 24 75 0 0 0.667858 0 0 PTGER3 5733 broad.mit.edu 37 1 71478156 71478156 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:71478156C>G ENST00000370924.4 - 2 1139 c.909G>C c.(907-909)ttG>ttC p.L303F PTGER3_ENST00000370932.2_Missense_Mutation_p.L303F|PTGER3_ENST00000351052.5_Missense_Mutation_p.L303F|PTGER3_ENST00000370931.3_Missense_Mutation_p.L303F|PTGER3_ENST00000356595.4_Missense_Mutation_p.L303F|PTGER3_ENST00000414819.1_Missense_Mutation_p.L303F|PTGER3_ENST00000354608.5_Missense_Mutation_p.L303F|PTGER3_ENST00000306666.5_Missense_Mutation_p.L303F|PTGER3_ENST00000460330.1_Missense_Mutation_p.L303F NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 303 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) AGATCATTTTCAACATCATTA 0.383000 14 35 0 0 0.479597 0 0 PAIP1 10605 broad.mit.edu 37 5 43527498 43527498 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:43527498C>G ENST00000306846.3 - 11 1652 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q PAIP1_ENST00000338972.4_Missense_Mutation_p.E362Q|PAIP1_ENST00000514514.1_3'UTR|PAIP1_ENST00000436644.2_Missense_Mutation_p.E395Q NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 474 PABPC1-interacting motif-1 (PAM1). 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) CGCTTACGCTCTGATTCCAAA 0.338000 8 79 0 0 0.278610 0 0 HIVEP1 3096 broad.mit.edu 37 6 12120396 12120396 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:12120396C>G ENST00000379388.2 + 4 700 c.368C>G c.(367-369)tCa>tGa p.S123* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 123 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCTGAAGCCTCAAAATCTGAA 0.433000 25 54 0 0 0.667858 0 0 FLG2 388698 broad.mit.edu 37 1 152329438 152329438 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:152329438C>T ENST00000388718.5 - 3 896 c.824G>A c.(823-825)aGg>aAg p.R275K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 275 Ser-rich. 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) ATGACTTCGCCTCCCACTGTC 0.448000 93 26 0 0 0.870114 0 0 LARP1B 55132 broad.mit.edu 37 4 129043203 129043203 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:129043203C>T ENST00000326639.6 + 11 1595 c.1384C>T c.(1384-1386)Cct>Tct p.P462S LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.P462S|LARP1B_ENST00000264584.5_Missense_Mutation_p.P415S|LARP1B_ENST00000427266.1_Missense_Mutation_p.P462S|LARP1B_ENST00000441387.1_Missense_Mutation_p.P462S NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 462 P -> R (in dbSNP:rs12508837). RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GAAAAAACATCCTGGAGGAGA 0.368000 41 38 0 0 0.834066 0 0 SPTBN4 57731 broad.mit.edu 37 19 41066348 41066348 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:41066348G>A ENST00000595535.1 + 27 6040 c.5954G>A c.(5953-5955)tGg>tAg p.W1985* SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000352632.3_Intron|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.W661*|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000392025.1_Intron Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 0 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) GCCTCCCCCTGGTGGCCTACC 0.632000 5 37 0 0 0.217242 0 0 ZNF100 163227 broad.mit.edu 37 19 21948580 21948580 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:21948580C>T ENST00000358296.6 - 2 210 c.12G>A c.(10-12)ccG>ccA p.P4P NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TTCCATACCTCGGGTCATCCT 0.483000 18 46 0 0 0.520397 0 0 AGR3 155465 broad.mit.edu 37 7 16902261 16902261 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:16902261G>A ENST00000310398.2 - 4 269 c.199C>T c.(199-201)Cac>Tac p.H67Y AGR3_ENST00000402239.3_Missense_Mutation_p.H67Y NM_176813.3 NP_789783.1 Q8TD06 AGR3_HUMAN anterior gradient 3 67 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TCCTCCAGGTGATGAATAACC 0.284000 17 86 0 0 0.520397 0 0 CERKL 375298 broad.mit.edu 37 2 182468711 182468711 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:182468711G>T ENST00000410087.3 - 2 434 c.334C>A c.(334-336)Cag>Aag p.Q112K CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.Q112K|CERKL_ENST00000374970.2_Missense_Mutation_p.Q112K|CERKL_ENST00000374969.2_Missense_Mutation_p.Q112K|CERKL_ENST00000339098.5_Missense_Mutation_p.Q112K NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 112 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CCACTTCTCTGCTGTTTAACA 0.318000 17 11 1.5739e-10 1.68435e-10 0.500413 1 0 BMPR1B 658 broad.mit.edu 37 4 96046186 96046186 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:96046186G>C ENST00000515059.1 + 8 782 c.499G>C c.(499-501)Gaa>Caa p.E167Q BMPR1B_ENST00000440890.2_Missense_Mutation_p.E197Q|BMPR1B_ENST00000394931.1_Missense_Mutation_p.E167Q|BMPR1B_ENST00000264568.4_Missense_Mutation_p.E167Q NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 167 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) AGAACAGGATGAAACTTACAT 0.408000 10 21 0 0 0.387290 0 0 CENPF 1063 broad.mit.edu 37 1 214816003 214816003 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:214816003C>T ENST00000366955.3 + 12 4490 c.4322C>T c.(4321-4323)tCa>tTa p.S1441L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1537 2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TATGTTGACTCATTAAAGGCC 0.423000 12 38 0 0 0.411799 0 0 SEMA4D 10507 broad.mit.edu 37 9 92003801 92003801 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:92003801G>A ENST00000450295.1 - 10 1712 c.936C>T c.(934-936)ctC>ctT p.L312L SEMA4D_ENST00000438547.2_Silent_p.L312L|SEMA4D_ENST00000356444.2_Silent_p.L312L|SEMA4D_ENST00000343780.4_Silent_p.L312L|SEMA4D_ENST00000455551.2_Silent_p.L312L|SEMA4D_ENST00000420987.1_Silent_p.L312L|SEMA4D_ENST00000339861.4_Silent_p.L312L|SEMA4D_ENST00000422704.2_Silent_p.L312L Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 312 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GTGGGGTGAAGAGTGCATAGA 0.617000 26 95 0 0 0.681144 0 0 EYA3 2140 broad.mit.edu 37 1 28374933 28374933 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:28374933T>C ENST00000373871.3 - 3 278 c.38A>G c.(37-39)aAa>aGa p.K13R EYA3_ENST00000373863.3_Missense_Mutation_p.K13R|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.K13R|EYA3_ENST00000436342.2_5'UTR Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 13 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) CTTGGCTTTTTTCACCTGCAA 0.289000 8 25 0 0 0.335167 0 0 KIAA2026 158358 broad.mit.edu 37 9 6007497 6007497 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:6007497G>A ENST00000399933.3 - 1 290 c.291C>T c.(289-291)ctC>ctT p.L97L KIAA2026_ENST00000381461.2_Silent_p.L97L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 97 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGGGGGCGGTGAGGCCCCGGT 0.716000 11 60 0 0 0.435327 0 0 MME 4311 broad.mit.edu 37 3 154834751 154834751 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:154834751G>A ENST00000460393.1 + 7 750 c.630G>A c.(628-630)aaG>aaA p.K210K MME_ENST00000493237.1_Silent_p.K210K|MME_ENST00000360490.2_Silent_p.K210K|MME_ENST00000462745.1_Silent_p.K210K|MME_ENST00000492661.1_Silent_p.K210K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 210 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTGATGATAAGAATTCTGTGA 0.299000 7 29 0 0 0.278610 0 0 MYO10 4651 broad.mit.edu 37 5 16676206 16676206 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:16676206G>A ENST00000513610.1 - 34 5054 c.4600C>T c.(4600-4602)Cga>Tga p.R1534* MYO10_ENST00000427430.2_Nonsense_Mutation_p.R891*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R891* NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1534 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TGGGTGTATCGAAGGATCGGG 0.493000 19 141 0 0 0.575678 0 0 DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:13923469C>T ENST00000265104.4 - 4 462 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D120N(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAGCCACATCGTTTCCCTCG 0.458000 Kartagener syndrome 24 303 0 0 0.639603 0 0 ALAD 210 broad.mit.edu 37 9 116152945 116152945 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:116152945C>T ENST00000409155.3 - 6 605 c.409G>A c.(409-411)Gaa>Aaa p.E137K ALAD_ENST00000277315.5_Missense_Mutation_p.E120K NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 137 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) GCTCCGTTTTCACTCAGGAGC 0.622000 9 19 0 0 0.361761 0 0 RBM26 64062 broad.mit.edu 37 13 79911235 79911235 + Splice_Site SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:79911235A>G ENST00000438737.2 - 19 3174 c.e19+1 RBM26_ENST00000438724.1_Splice_Site|RBM26_ENST00000267229.7_Splice_Site Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTAAGAAAGTACCGCAAAATG 0.413000 9 3 0 0 0.335167 0 0 DBP 1628 broad.mit.edu 37 19 49140149 49140149 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:49140149G>A ENST00000222122.5 - 1 546 c.103C>T c.(103-105)Ctg>Ttg p.L35L DBP_ENST00000601104.1_Silent_p.L35L NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 35 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) GTCCCCTGCAGAAGGCTCCGC 0.701000 3 10 0 0 0.115264 0 0 CNTN4 152330 broad.mit.edu 37 3 3067795 3067795 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:3067795G>A ENST00000397461.1 + 14 1880 c.1496G>A c.(1495-1497)aGg>aAg p.R499K CNTN4_ENST00000427331.1_Missense_Mutation_p.R499K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R171K|CNTN4_ENST00000448906.2_Missense_Mutation_p.R171K|CNTN4_ENST00000358480.3_Missense_Mutation_p.R280K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R499K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 499 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GATCCAACAAGGGTAATGGTA 0.418000 5 11 0 0 0.278610 0 0 LPAR4 2846 broad.mit.edu 37 X 78010388 78010388 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:78010388G>A ENST00000435339.2 + 2 427 c.22G>A c.(22-24)Gac>Aac p.D8N RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.D8N NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 8 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 AAGATTCATTGACTTCCAATT 0.438000 14 23 0 0 0.479597 0 0 RNF10 9921 broad.mit.edu 37 12 120995384 120995384 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:120995384G>A ENST00000325954.4 + 6 1327 c.866G>A c.(865-867)gGt>gAt p.G289D RNF10_ENST00000413266.2_Missense_Mutation_p.G289D NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 289 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TATGTTGTTGGTGATACCATT 0.448000 31 109 0 0 0.760397 0 0 OR8H3 390152 broad.mit.edu 37 11 55890553 55890553 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:55890553G>C ENST00000313472.3 + 1 705 c.705G>C c.(703-705)caG>caC p.Q235H NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CAGGAAAGCAGAAAGCTTTCT 0.413000 19 117 0 0 0.575678 0 0 MTUS2 23281 broad.mit.edu 37 13 29599371 29599371 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:29599371G>C ENST00000431530.3 + 1 624 c.566G>C c.(565-567)aGa>aCa p.R189T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 179 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.R189K(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TCTTTGGAAAGAGCAAGCAGC 0.547000 22 42 0 0 0.608945 0 0 RELN 5649 broad.mit.edu 37 7 103155675 103155675 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:103155675G>A ENST00000424685.2 - 50 8235 c.8076C>T c.(8074-8076)gtC>gtT p.V2692V RELN_ENST00000428762.1_Silent_p.V2692V|RELN_ENST00000343529.5_Silent_p.V2692V P78509 RELN_HUMAN reelin 2692 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGATCCTCCCGACAGGGCCGG 0.517000 6 39 0 0 0.217242 0 0 MTERF 7978 broad.mit.edu 37 7 91503289 91503289 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:91503289C>G ENST00000419292.1 - 2 835 c.759G>C c.(757-759)ctG>ctC p.L253L CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000406735.2_Silent_p.L253L|MTERF_ENST00000351870.3_Silent_p.L273L Q99551 MTERF_HUMAN mitochondrial transcription termination factor 273 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) GACCACATATCAGAACCAGCA 0.413000 10 46 0 0 0.335167 0 0 SEMA3A 10371 broad.mit.edu 37 7 83610791 83610791 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:83610791G>T ENST00000265362.3 - 14 1812 c.1498C>A c.(1498-1500)Caa>Aaa p.Q500K SEMA3A_ENST00000436949.1_Missense_Mutation_p.Q500K NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 500 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATATATAGTTGTTGCTGTGGA 0.418000 4 9 2.56e-06 2.69241e-06 0.150653 1 0 SRF 6722 broad.mit.edu 37 6 43144380 43144380 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:43144380C>T ENST00000265354.4 + 4 1495 c.1137C>T c.(1135-1137)ctC>ctT p.L379L SRF_ENST00000457278.2_Silent_p.L175L NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 379 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GCACAGACCTCACGCAGACCT 0.647000 18 81 0 0 0.575678 0 0 KCNA4 3739 broad.mit.edu 37 11 30034073 30034073 + Silent SNP G G C rs60942363 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:30034073G>C ENST00000328224.6 - 2 1386 c.153C>G c.(151-153)gtC>gtG p.V51V NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 51 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CGCTACCTTCGACAGCAGCTG 0.677000 14 16 0 0 0.654019 0 0 KL 9365 broad.mit.edu 37 13 33638296 33638296 + Silent SNP G G A rs139874106 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:33638296G>A ENST00000380099.3 + 5 3020 c.3012G>A c.(3010-3012)tcG>tcA p.S1004S KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 1004 aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTACTACTCGAAGAAAGGCA 0.333000 9 14 0 0 0.335167 0 0 FOXD2 2306 broad.mit.edu 37 1 47904276 47904276 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:47904276A>G ENST00000334793.5 + 1 2588 c.469A>G c.(469-471)Atc>Gtc p.I157V NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 157 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) CTGCGAGTTCATCAGCGGCCG 0.617000 21 45 0 0 0.592651 0 0 DNAH7 56171 broad.mit.edu 37 2 196729233 196729233 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:196729233C>G ENST00000312428.6 - 41 7246 c.7146G>C c.(7144-7146)gtG>gtC p.V2382V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2382 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCCTTAAGATCACTTTTAAAT 0.398000 16 71 0 0 0.520397 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57466638 57466638 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:57466638C>T ENST00000287169.3 + 11 3092 c.1730C>T c.(1729-1731)tCg>tTg p.S577L ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S524L NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 577 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 ACACCAGGCTCGGGCCATGCC 0.597000 34 144 0 0 0.769981 0 0 VARS 7407 broad.mit.edu 37 6 31759748 31759748 + Splice_Site SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:31759748T>G ENST00000375663.3 - 7 1312 c.871_splice c.e7-1 p.D291_splice VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 291 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GCCACTGACATCTGGGGGAGA 0.622000 3 6 0 0 0.115264 0 0 CTLA4 1493 broad.mit.edu 37 2 204732684 204732684 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:204732684C>T ENST00000302823.3 + 1 176 c.19C>T c.(19-21)Cag>Tag p.Q7* CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Nonsense_Mutation_p.Q7*|CTLA4_ENST00000295854.6_Nonsense_Mutation_p.Q7* NM_005214.4 NP_005205.2 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 7 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm large_intestine(4)|lung(4)|skin(1) 9 Abatacept(DB01281) CCTTGGATTTCAGCGGCACAA 0.498000 14 18 0 0 0.435327 0 0 MCOLN2 255231 broad.mit.edu 37 1 85403762 85403762 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:85403762G>C ENST00000370608.3 - 10 1181 c.1114C>G c.(1114-1116)Ctc>Gtc p.L372V MCOLN2_ENST00000284027.5_Missense_Mutation_p.L344V|MCOLN2_ENST00000531325.1_5'UTR NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 372 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TAGTTTGTGAGATTCTAAGGA 0.338000 23 26 0 0 0.639603 0 0 SNX29 92017 broad.mit.edu 37 16 12145835 12145835 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:12145835G>A ENST00000566228.1 + 8 949 c.880G>A c.(880-882)Gac>Aac p.D294N NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 266 PX. cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 GAGCTCAGAGGACAACTCCGA 0.483000 15 52 0 0 0.479597 0 0 MBP 4155 broad.mit.edu 37 18 74729142 74729142 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:74729142C>G ENST00000397860.3 - 4 436 c.222G>C c.(220-222)aaG>aaC p.K74N MBP_ENST00000354542.4_5'UTR|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.K74N|MBP_ENST00000355994.2_Missense_Mutation_p.K74N|MBP_ENST00000579129.1_Missense_Mutation_p.K74N|MBP_ENST00000397863.1_Missense_Mutation_p.K74N NM_001025100.1 NP_001020271.1 P02686 MBP_HUMAN myelin basic protein 74 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) GCCAGGCATTCTTCGGGTCCG 0.607000 20 9 0 0 0.592651 0 0 CNTN3 5067 broad.mit.edu 37 3 74535745 74535745 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:74535745C>T ENST00000263665.6 - 3 247 c.220G>A c.(220-222)Gaa>Aaa p.E74K NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 74 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TAACGATGTTCCATACTCATA 0.363000 16 32 0 0 0.520397 0 0 TOP1MT 116447 broad.mit.edu 37 8 144413487 144413487 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:144413487C>T ENST00000329245.4 - 2 179 c.145G>A c.(145-147)Gac>Aac p.D49N TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR NM_052963.2 NP_443195.1 Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 49 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TTCACCCCGTCTTCGTGCTTC 0.607000 35 17 0 0 0.819951 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851748 14851748 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:14851748G>C ENST00000358984.4 + 36 3628 c.3448G>C c.(3448-3450)Gtt>Ctt p.V1150L NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1235 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GCAGCTTAAAGTTCTGACGGC 0.373000 12 10 0 0 0.411799 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4455427 4455427 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:4455427G>A ENST00000254718.4 - 7 1204 c.898C>T c.(898-900)Cca>Tca p.P300S MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P300S Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 300 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CACCTGGCTGGCCAGAACTGC 0.627000 4 69 0 0 0.150653 0 0 ZNF112 7665 broad.mit.edu 37 19 44831903 44831903 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:44831903G>A ENST00000354340.4 - 4 2458 c.2407C>T c.(2407-2409)Cag>Tag p.Q803* ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q826*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q809* NM_013380.3 NP_037512.3 zinc finger protein 112 TTACCACACTGTTCACATTTA 0.458000 37 100 0 0 0.796494 0 0 TTN 7273 broad.mit.edu 37 2 179599449 179599449 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:179599449C>T ENST00000589042.1 - 51 15426 c.15202G>A c.(15202-15204)Gaa>Aaa p.E5068K TTN_ENST00000591111.1_Missense_Mutation_p.E4751K|TTN_ENST00000342992.6_Missense_Mutation_p.E3824K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4751 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) ATAACTATTTCAGTACTGCAG 0.363000 19 80 0 0 0.608945 0 0 SP100 6672 broad.mit.edu 37 2 231368918 231368918 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:231368918G>C ENST00000264052.5 + 21 2138 c.1783G>C c.(1783-1785)Gat>Cat p.D595H SP100_ENST00000409112.1_Missense_Mutation_p.D595H|SP100_ENST00000340126.4_Missense_Mutation_p.D595H NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 595 SAND. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AATTCCCAAAGATGAAAATAT 0.403000 20 50 0 0 0.575678 0 0 SLC30A4 7782 broad.mit.edu 37 15 45778943 45778943 + Splice_Site SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:45778943C>G ENST00000261867.4 - 7 1315 c.1000_splice c.e7-1 p.G334_splice RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 334 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) GCTTGGCACACCTATTAGGAA 0.294000 41 167 0 0 0.834066 0 0 FBLL1 345630 broad.mit.edu 37 5 167957016 167957016 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:167957016C>T ENST00000338333.4 + 1 896 c.507C>T c.(505-507)atC>atT p.I169I AGATCCACATCAAGCCCAAGT 0.672000 8 1 0 0 0.307466 0 0 ZNF16 7564 broad.mit.edu 37 8 146157372 146157372 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:146157372G>A ENST00000276816.4 - 4 987 c.801C>T c.(799-801)tgC>tgT p.C267C ZNF16_ENST00000394909.2_Silent_p.C267C NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CACATTCGCTGCACTGGTAAG 0.453000 4 94 0 0 0.150653 0 0 KRT34 3885 broad.mit.edu 37 17 39538614 39538614 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:39538614G>A ENST00000394001.1 - 1 41 c.11C>T c.(10-12)gCc>gTc p.A4V NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 4 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TGGGGGCTTGGCATACAGCAT 0.433000 16 15 0 0 0.500413 0 0 GUCY2D 3000 broad.mit.edu 37 17 7907263 7907263 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:7907263C>T ENST00000254854.4 + 3 965 c.815C>T c.(814-816)tCc>tTc p.S272F NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 272 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) ACCGATGGCTCCCTGGTCTTC 0.672000 29 96 0 0 0.729181 0 0 CYP2J2 1573 broad.mit.edu 37 1 60381745 60381746 + Frame_Shift_Ins INS - - A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:60381745_60381746insA ENST00000371204.3 - 2 280_281 c.237_238insT c.(235-240)ttgcttfs p.LL79fs NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 79 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity p.S80G(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) AGCTCCAAGCTAAAAAGGTTCC 0.411 21 65 --- --- --- --- DANCR 57291 broad.mit.edu 37 4 53579545 53579546 + RNA DEL AA AA - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:53579545_53579546delAA ENST00000411630.2 + 0 234 NR_024031.1 ACTGAACCAGAAAAAGTTTCGT 0.376 21 71 --- --- --- --- JADE2 23338 broad.mit.edu 37 5 133895609 133895610 + Frame_Shift_Ins INS - - C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:133895609_133895610insC ENST00000395003.1 + 5 580_581 c.401_402insC c.(400-402)gagfs p.E134fs PHF15_ENST00000282605.4_Frame_Shift_Ins_p.E134fs|PHF15_ENST00000402835.1_Frame_Shift_Ins_p.E134fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.E134fs NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 134 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGGCCAGGGGGCAGCCGCTATG 0.579 7 38 --- --- --- --- CTC-338M12.4 101928649 broad.mit.edu 37 5 180699084 180699085 + RNA INS - - A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:180699084_180699085insA ENST00000511331.1 + 0 916_917 CTC-338M12.3_ENST00000507434.1_RNA GGCTTTCCATCAGAAAAAAAAA 0.411 2 4 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 5 1 --- --- --- --- KRTAP5-3 387266 broad.mit.edu 37 11 1629017 1629046 + In_Frame_Del DEL CAGCAGCTGGACTGGGAACAGCAGGGTTTG CAGCAGCTGGACTGGGAACAGCAGGGTTTG - rs144204766 by1000genomes TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1629017_1629046delCAGCAGCTGGACTGGGAACAGCAGGGTTTG ENST00000399685.1 - 1 647_676 c.570_599delCAAACCCTGCTGTTCCCAGTCCAGCTGCTG c.(568-600)tgt>tg p.CKPCCSQSSCC190del NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 190 11 X 4 AA repeats of C-C-X-P. keratin filament p.Q196Q(1) endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) gcagggcttacagcagctggactgggaacagcagggtttgcagcagctgg 0.617 8 260 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 10 17 --- --- --- --- LRTM2 654429 broad.mit.edu 37 12 1940353 1940354 + Frame_Shift_Ins INS - - G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:1940353_1940354insG ENST00000543818.1 + 4 1162_1163 c.320_321insG c.(319-321)cccfs p.P107fs LRTM2_ENST00000535041.1_Frame_Shift_Ins_p.P107fs|LRTM2_ENST00000299194.1_Frame_Shift_Ins_p.P107fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 107 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CTGGACCGGCTGCCCCGCTCCA 0.599 9 99 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49436553 49436559 + Frame_Shift_Del DEL CGGCTGC CGGCTGC - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:49436553_49436559delCGGCTGC ENST00000301067.7 - 26 5746_5752 c.5747_5753delGCAGCCG c.(5746-5754)gtfs p.GSR1916fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R1648C(1)|p.G1646G(1)|p.S1647G(1)|p.R1918C(1)|p.G1916G(1)|p.S1917G(1) CAGTGGCGTACGGCTGCCTTCTAGGCC 0.546 27 83 --- --- --- --- OR6C74 254783 broad.mit.edu 37 12 55641287 55641287 + Frame_Shift_Del DEL A A - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:55641287delA ENST00000343870.4 + 1 306 c.216delA c.(214-216)acfs p.T73fs NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TCTCATTCACAACTGTCTACA 0.393 61 189 --- --- --- --- TRAV24 28659 broad.mit.edu 37 14 22573824 22573825 + RNA INS - - A rs112427980 by1000genomes TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:22573824_22573825insA ENST00000390453.1 + 0 55 TGACTCTTTTTTAAAAAAACAG 0.450 3 4 --- --- --- --- PDCD7 10081 broad.mit.edu 37 15 65426079 65426079 + Frame_Shift_Del DEL G G - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:65426079delG ENST00000204549.4 - 1 95 c.41delC c.(40-42)cafs p.P17fs NM_005707.1 NP_005698.1 Q8N8D1 PDCD7_HUMAN programmed cell death 7 17 Pro-rich. apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 CGGGGGCGGTGGGCCTGGGCG 0.692 2 4 --- --- --- --- ISLR2 57611 broad.mit.edu 37 15 74427263 74427264 + Frame_Shift_Ins INS - - G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:74427263_74427264insG ENST00000361742.3 + 4 2937_2938 c.2168_2169insG c.(2167-2169)cccfs p.P723fs ISLR2_ENST00000419208.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000565540.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000565159.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000445793.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000435464.1_Frame_Shift_Ins_p.P723fs NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 723 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 AGCGATCGGCTGCCCCTGGGCG 0.658 OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 69 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578234 7578235 + Frame_Shift_Ins INS - - T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:7578234_7578235insT ENST00000420246.2 - 6 746_747 c.614_615insA c.(613-615)tttfs p.F205fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.F205fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.F205fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.F205fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.F205fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F205fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y205*(4)|p.Y112S(1)|p.Y73S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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) TGTCATCCAAATACTCCACACG 0.540 111 """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) 19 21 --- --- --- --- SPAG4 6676 broad.mit.edu 37 20 34207645 34207646 + Frame_Shift_Ins INS - - C rs76103999 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:34207645_34207646insC ENST00000374273.3 + 10 1166_1167 c.1054_1055insC c.(1054-1056)cccfs p.P352fs NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 352 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) AGCCAACAGCGCCCCCCGCGAT 0.624 12 61 --- --- --- ---