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 CCDC181 57821 broad.mit.edu 37 1 169390813 169390813 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:169390813C>T ENST00000545005.1 - 4 1363 c.856G>A c.(856-858)Gag>Aag p.E286K CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E286K|CCDC181_ENST00000491570.1_5'UTR coiled-coil domain containing 181 GCCAGCGGCTCTCCTGTTGAT 0.473000 53 142 0 0 0.003610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 144 0 0 0.001168 0 0 ZIM3 114026 broad.mit.edu 37 19 57646307 57646307 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:57646307C>T ENST00000269834.1 - 5 1783 c.1398G>A c.(1396-1398)caG>caA p.Q466Q NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAATTCTTTTCTGGTGCCTAA 0.428000 49 70 0 0 0.003610 0 0 FREM2 341640 broad.mit.edu 37 13 39446956 39446956 + Silent SNP G G T rs147947821 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:39446956G>T ENST00000280481.7 + 17 8277 c.8061G>T c.(8059-8061)ggG>ggT p.G2687G NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2687 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCCCCGTGGGGGTAGGAGGCT 0.488000 40 64 9.8876e-21 1.50463e-20 0.004878 1 0 PCLO 27445 broad.mit.edu 37 7 82582174 82582174 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:82582174G>T ENST00000423517.2 - 5 8432 c.8095C>A c.(8095-8097)Cct>Act p.P2699T PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2630 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTCTGGAGGAATTGTTATG 0.403000 18 47 3.32936e-07 4.19164e-07 0.006122 1 0 MAST4 375449 broad.mit.edu 37 5 66429471 66429471 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:66429471A>G ENST00000404260.3 + 17 2540 c.2232A>G c.(2230-2232)aaA>aaG p.K744K MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000261569.7_Silent_p.K547K|MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000403625.2_Silent_p.K741K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 744 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCCTGGATAAACAGGTAAGCT 0.408000 21 37 0 0 0.001523 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 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) TCTTAACTTACTGTTGTGAAA 0.418000 6 66 0 0 0.001984 0 0 MBTPS2 51360 broad.mit.edu 37 X 21869684 21869684 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:21869684A>T ENST00000365779.2 + 4 577 c.496A>T c.(496-498)Att>Ttt p.I166F MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 166 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 GGCAGTTCTCATTAGTGGTGT 0.373000 5 78 0 0 0.001168 0 0 PCDH15 65217 broad.mit.edu 37 10 56106133 56106133 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:56106133C>A ENST00000373965.2 - 6 980 c.586G>T c.(586-588)Gat>Tat p.D196Y PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 196 Cadherin 2. 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 p.D196Y(2)|p.D201Y(2) 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) ACCGGATCATCTGGATTATAC 0.308000 HNSCC(58;0.16) 26 59 1.66031e-10 2.20116e-10 0.003954 1 0 ZNF521 25925 broad.mit.edu 37 18 22804737 22804737 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:22804737C>A ENST00000361524.3 - 4 3293 c.3145G>T c.(3145-3147)Ggg>Tgg p.G1049W ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1049 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ACTGCAGACCCATTCCCTGTC 0.522000 T PAX5 ALL 19 20 8.00594e-06 9.83186e-06 0.007413 1 0 SAFB2 9667 broad.mit.edu 37 19 5598876 5598876 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:5598876C>G ENST00000252542.4 - 13 1974 c.1710G>C c.(1708-1710)cgG>cgC p.R570R NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TCACGACCGTCCGCTCCATTC 0.507000 26 48 0 0 0.008361 0 0 ABT1 29777 broad.mit.edu 37 6 26597372 26597372 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:26597372G>T ENST00000274849.1 + 1 193 c.162G>T c.(160-162)ccG>ccT p.P54P NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 54 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 GCCATATCCCGCCGCGCTTCC 0.612000 16 28 2.32078e-09 3.03088e-09 0.003163 1 0 DUSP6 1848 broad.mit.edu 37 12 89745444 89745444 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:89745444C>T ENST00000279488.7 - 1 1604 c.373G>A c.(373-375)Gag>Aag p.E125K DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 125 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|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 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CGGCAGCCCTCGTCCTTGAGC 0.687000 6 2 0 0 0.001168 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29888756 29888756 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:29888756A>T ENST00000308713.5 - 11 2272 c.1745T>A c.(1744-1746)cTg>cAg p.L582Q SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 582 CUB 3. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCGTCGAACAGCGTCAGCAT 0.692000 10 26 0 0 0.000978 0 0 RABEP2 79874 broad.mit.edu 37 16 28917494 28917494 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:28917494G>A ENST00000358201.4 - 9 1857 c.1269C>T c.(1267-1269)tgC>tgT p.C423C RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 423 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CTTGCCGCGTGCAGCACAGCA 0.716000 7 10 0 0 0.004482 0 0 METTL3 56339 broad.mit.edu 37 14 21969087 21969087 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:21969087C>T ENST00000298717.4 - 5 1235 c.1084G>A c.(1084-1086)Gat>Aat p.D362N NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 362 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GCACTGGAATCACCTCCGACA 0.507000 12 8 0 0 0.001855 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975532 31975532 + RNA SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:31975532C>T ENST00000342991.6 + 0 1455 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GGACCGTGCACGGCTGCCCTT 0.657000 19 19 0 0 0.007413 0 0 MMP13 4322 broad.mit.edu 37 11 102818711 102818711 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:102818711C>G ENST00000260302.3 - 8 1148 c.1120G>C c.(1120-1122)Ggt>Cgt p.G374R MMP13_ENST00000340273.4_Missense_Mutation_p.G374R NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 374 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTTGGAAGACCCAGTTCAGAT 0.403000 21 13 0 0 0.008871 0 0 DOCK9 23348 broad.mit.edu 37 13 99452600 99452600 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:99452600G>A ENST00000376460.1 - 53 5980 c.5900C>T c.(5899-5901)tCg>tTg p.S1967L DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1968 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACCTCGGCCGAGGAGCACAG 0.612000 11 21 0 0 0.000978 0 0 TP53 7157 broad.mit.edu 37 17 7577557 7577557 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:7577557A>T ENST00000420246.2 - 7 856 c.724T>A c.(724-726)Tgc>Agc p.C242S TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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) CCGCCCATGCAGGAACTGTTA 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 67 22 0 0 0.003610 0 0 DENND4C 55667 broad.mit.edu 37 9 19316463 19316463 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:19316463G>T ENST00000380432.2 + 7 861 c.828G>T c.(826-828)ccG>ccT p.P276P DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Silent_p.P512P|DENND4C_ENST00000602925.1_Silent_p.P512P NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 276 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CCAAAAAGCCGTGCAAAAATC 0.328000 11 2 7.03913e-09 9.15871e-09 0.001368 1 0 PCDH11X 27328 broad.mit.edu 37 X 91090459 91090459 + Splice_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:91090459G>T ENST00000395337.2 + 4 589 c.e4-1 PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR|PCDH11X_ENST00000373097.1_5'UTR NM_032967.2 NP_116749.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTTTTGGTCAGTGTTGTGCGG 0.403000 38 11 1.96642e-18 2.92871e-18 0.006999 1 0 COL6A2 1292 broad.mit.edu 37 21 47552400 47552400 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:47552400C>A ENST00000300527.4 + 28 3098 c.2994C>A c.(2992-2994)caC>caA p.H998Q NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 998 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCGTGTTCCACGAGAAGGACT 0.677000 7 18 8.12818e-05 9.878e-05 0.001984 1 0 OR6K2 81448 broad.mit.edu 37 1 158669597 158669597 + Missense_Mutation SNP C C G rs141159720 byFrequency TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:158669597C>G ENST00000359610.2 - 1 889 c.846G>C c.(844-846)ttG>ttC p.L282F NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AGAAGGGAGACAAAACTGCAA 0.403000 10 29 0 0 0.006214 0 0 DUS3L 56931 broad.mit.edu 37 19 5786796 5786796 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:5786796C>T ENST00000309061.7 - 9 1546 c.1450G>A c.(1450-1452)Gag>Aag p.E484K DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 484 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TGCACGCACTCCTCGATGTAC 0.667000 19 33 0 0 0.002299 0 0 HAO1 54363 broad.mit.edu 37 20 7895010 7895010 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr20:7895010C>T ENST00000378789.3 - 3 397 c.346G>A c.(346-348)Gaa>Aaa p.E116K NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 116 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GCCACTTCTTCAATTGAGGAG 0.532000 14 36 0 0 0.001855 0 0 P2RY2 5029 broad.mit.edu 37 11 72946311 72946311 + Missense_Mutation SNP C C G rs145119561 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:72946311C>G ENST00000311131.2 + 3 1574 c.1107C>G c.(1105-1107)agC>agG p.S369R P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 369 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CGGCTGGTAGCGAGAACACTA 0.552000 47 35 0 0 0.003610 0 0 MORC1 27136 broad.mit.edu 37 3 108778707 108778707 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:108778707T>G ENST00000232603.5 - 12 1059 c.977A>C c.(976-978)cAg>cCg p.Q326P MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 326 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CAAAGCTCTCTGTAATACATC 0.358000 7 51 0 0 0.003080 0 0 NSMF 26012 broad.mit.edu 37 9 140346851 140346851 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:140346851C>G ENST00000371475.3 - 12 1433 c.1202G>C c.(1201-1203)gGa>gCa p.G401A NSMF_ENST00000437259.1_Missense_Mutation_p.G378A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000484316.1_5'UTR NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor GATCTTGGCTCCCTTGTGGTA 0.617000 59 121 0 0 0.003610 0 0 PPFIA2 8499 broad.mit.edu 37 12 81738464 81738464 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:81738464A>T ENST00000550584.2 - 18 2536 c.2241T>A c.(2239-2241)gaT>gaA p.D747E PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D314E|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D729E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D729E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D594E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D648E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D673E NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 673 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GTTTCCTCAGATCACTTGGCT 0.279000 3 0 0 0 0.004672 0 0 PCDH10 57575 broad.mit.edu 37 4 134072226 134072226 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:134072226G>C ENST00000264360.4 + 1 1757 c.931G>C c.(931-933)Gag>Cag p.E311Q NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 311 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGGCAGACTGGAGGTAAGCGG 0.632000 37 23 0 0 0.003271 0 0 ZHX2 22882 broad.mit.edu 37 8 123965602 123965602 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:123965602T>C ENST00000314393.4 + 3 2687 c.1852T>C c.(1852-1854)Tcc>Ccc p.S618P NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 618 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGACCAGCTCTCCGGTGCCCA 0.532000 25 52 0 0 0.003954 0 0 OR2T3 343173 broad.mit.edu 37 1 248637239 248637239 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:248637239C>G ENST00000359594.2 + 1 613 c.588C>G c.(586-588)gaC>gaG p.D196E NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTCTGACGTCTCCCTCT 0.522000 107 273 0 0 0.003610 0 0 DAB2 1601 broad.mit.edu 37 5 39376143 39376143 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:39376143C>G ENST00000545653.1 - 12 2670 c.2140G>C c.(2140-2142)Gag>Cag p.E714Q DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000320816.6_Missense_Mutation_p.E735Q NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 735 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AAAGGGTTCTCAAATGCATTG 0.418000 19 36 0 0 0.008871 0 0 DDI2 84301 broad.mit.edu 37 1 15956910 15956910 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:15956910C>T ENST00000480945.1 + 3 530 c.359C>T c.(358-360)tCa>tTa p.S120L NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 120 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGTCCCACTCATCTCCTGGA 0.542000 33 15 0 0 0.002096 0 0 CD226 10666 broad.mit.edu 37 18 67614187 67614187 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:67614187G>A ENST00000280200.4 - 3 433 c.165C>T c.(163-165)acC>acT p.T55T CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000581982.1_Intron NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 55 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) AATCCTGCTGGGTCCCGATCT 0.463000 21 15 0 0 0.001882 0 0 TRRAP 8295 broad.mit.edu 37 7 98581764 98581764 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:98581764A>G ENST00000359863.4 + 60 9292 c.9083A>G c.(9082-9084)aAt>aGt p.N3028S TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3028 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCAGTTCAAATAACGCTATG 0.448000 43 62 0 0 0.006999 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716928 170716928 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:170716928G>T ENST00000314251.3 - 9 1175 c.1096C>A c.(1096-1098)Cgt>Agt p.R366S SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 366 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AAGAGAGAACGTCGCCCTGCC 0.398000 39 107 2.54651e-27 4.01476e-27 0.006999 1 0 MET 4233 broad.mit.edu 37 7 116339752 116339752 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:116339752A>G ENST00000397752.3 + 2 814 c.614A>G c.(613-615)tAt>tGt p.Y205C MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 205 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AATTCTTCTTATTTCCCAGAT 0.418000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 67 89 0 0 0.003610 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601217 138601217 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:138601217G>A ENST00000251691.4 + 14 2543 c.2377G>A c.(2377-2379)Gtg>Atg p.V793M NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 793 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTACCATCAGGTGCTCGACAG 0.552000 28 29 0 0 0.006320 0 0 UNC13A 23025 broad.mit.edu 37 19 17728564 17728564 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:17728564G>A ENST00000428389.2 - 42 4768 c.4769C>T c.(4768-4770)aCg>aTg p.T1590M UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1502 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GGTGGCCTGCGTGTAGAGCGA 0.607000 50 72 0 0 0.003610 0 0 OGDHL 55753 broad.mit.edu 37 10 50945898 50945898 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:50945898T>A ENST00000374103.4 - 20 2609 c.2524A>T c.(2524-2526)Atc>Ttc p.I842F OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 842 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGTGTGAAGATAATCAGCTGG 0.617000 33 50 0 0 0.002096 0 0 RFX5 5993 broad.mit.edu 37 1 151315026 151315026 + Nonsense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:151315026G>C ENST00000290524.4 - 11 1665 c.1487C>G c.(1486-1488)tCa>tGa p.S496* RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496* NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 496 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGGTAACCTTGAGGACTGGGC 0.577000 83 194 0 0 0.003610 0 0 COL19A1 1310 broad.mit.edu 37 6 70856592 70856592 + Silent SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:70856592A>T ENST00000322773.4 + 26 1914 c.1812A>T c.(1810-1812)ccA>ccT p.P604P COL19A1_ENST00000393344.1_Silent_p.P226P NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 604 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CACGTGGGCCAAAGGTATACA 0.323000 5 11 0 0 0.001168 0 0 CDH17 1015 broad.mit.edu 37 8 95174380 95174380 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:95174380G>T ENST00000027335.3 - 11 1417 c.1293C>A c.(1291-1293)acC>acA p.T431T CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 431 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CAAAACAAAGGGTCTTGAAAT 0.313000 13 30 6.72482e-11 8.94939e-11 0.003163 1 0 SCN3A 6328 broad.mit.edu 37 2 165986510 165986510 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:165986510G>T ENST00000360093.3 - 17 3353 c.2862C>A c.(2860-2862)gtC>gtA p.V954V SCN3A_ENST00000283254.7_Silent_p.V954V|SCN3A_ENST00000409101.3_Silent_p.V905V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 954 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) TTTGGCCAGCGACCTCCATAC 0.468000 188 143 3.0798e-103 5.20739e-103 0.003610 1 0 DRP2 1821 broad.mit.edu 37 X 100494001 100494001 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:100494001C>T ENST00000395209.3 + 6 997 c.470C>T c.(469-471)cCc>cTc p.P157L DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 157 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 TCTCGGGGCCCCTACATCTAT 0.463000 58 16 0 0 0.003610 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856854 19856854 + RNA SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:19856854C>G ENST00000548109.1 + 0 72 CTCATGTCATCTACAGCACTC 0.343000 7 40 0 0 0.004482 0 0 CLCNKB 1188 broad.mit.edu 37 1 16380200 16380200 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16380200A>G ENST00000375679.4 + 16 1800 c.1689A>G c.(1687-1689)ccA>ccG p.P563P CLCNKB_ENST00000375667.3_Silent_p.P394P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) AGGACATGCCACTGGAGGAGG 0.632000 15 15 0 0 0.008871 0 0 OR2T3 343173 broad.mit.edu 37 1 248637225 248637225 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:248637225C>T ENST00000359594.2 + 1 599 c.574C>T c.(574-576)Ctc>Ttc p.L192F NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTGAAGCTCTCCTGCTC 0.517000 192 155 0 0 0.003610 0 0 COL4A1 1282 broad.mit.edu 37 13 110828798 110828798 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:110828798C>T ENST00000375820.4 - 36 3152 c.3031G>A c.(3031-3033)Gga>Aga p.G1011R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1011 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCAACAGATCCTTTTGGTCCC 0.483000 23 44 0 0 0.006320 0 0 ST5 6764 broad.mit.edu 37 11 8737301 8737301 + Missense_Mutation SNP C C T rs144868309 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:8737301C>T ENST00000534127.1 - 9 2079 c.1694G>A c.(1693-1695)cGg>cAg p.R565Q ST5_ENST00000530991.1_Missense_Mutation_p.R37Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 565 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TCGTGGCAGCCGGTGGCTCTT 0.617000 41 80 0 0 0.002852 0 0 ZNF226 7769 broad.mit.edu 37 19 44680226 44680226 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:44680226C>T ENST00000590089.1 + 7 1178 c.811C>T c.(811-813)Cag>Tag p.Q271* ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271* Q9NYT6 ZN226_HUMAN zinc finger protein 226 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TGATCTTCATCAGCAGTTACA 0.423000 23 42 0 0 0.001882 0 0 LRP5 4041 broad.mit.edu 37 11 68154175 68154175 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:68154175G>A ENST00000294304.7 + 6 1513 c.1407G>A c.(1405-1407)gtG>gtA p.V469V NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 469 Beta-propeller 2. 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 TGCACCCCGTGATGGGGTAAG 0.672000 13 27 0 0 0.003163 0 0 RIMS2 9699 broad.mit.edu 37 8 105235910 105235910 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:105235910G>T ENST00000339750.2 + 1 31 c.31G>T c.(31-33)Gct>Tct p.A11S RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1247 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGGTGCCAGCGCTGCGGGGCG 0.687000 HNSCC(12;0.0054) 8 16 1.12685e-05 1.37901e-05 0.004482 1 0 DYRK1B 9149 broad.mit.edu 37 19 40321360 40321360 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:40321360C>T ENST00000593685.1 - 3 595 c.127G>A c.(127-129)Gcc>Acc p.A43T DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 43 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CGCAGCGGGGCTGAGGTTGCA 0.642000 30 42 0 0 0.007291 0 0 RGS7 6000 broad.mit.edu 37 1 240964780 240964780 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:240964780G>C ENST00000366565.1 - 17 1769 c.1388C>G c.(1387-1389)tCt>tGt p.S463C RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 463 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTTTCAAAAGATGTTCTGCG 0.333000 10 18 0 0 0.008291 0 0 PLCH1 23007 broad.mit.edu 37 3 155203145 155203145 + Splice_Site SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:155203145C>T ENST00000460012.1 - 22 3241 c.2884_splice c.e22+1 p.A962_splice PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1000 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCATCTTACCTAGAGAGTTT 0.423000 13 50 0 0 0.001368 0 0 FCAR 2204 broad.mit.edu 37 19 55396680 55396680 + Nonsense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:55396680C>A ENST00000355524.3 + 3 114 c.104C>A c.(103-105)tCg>tAg p.S35* FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000353758.4_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 35 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.S35L(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCTGCCAAATCGAGTCCTGTG 0.498000 22 34 3.62473e-10 4.78738e-10 0.001882 1 0 DOCK3 1795 broad.mit.edu 37 3 51400017 51400017 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:51400017G>A ENST00000266037.9 + 49 5228 c.5205G>A c.(5203-5205)tcG>tcA p.S1735S NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1735 Ser-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTCTGTCCTCGTCCCAGGCAA 0.557000 32 18 0 0 0.002096 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43626706 43626706 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:43626706T>A ENST00000332857.6 - 4 2009 c.1981A>T c.(1981-1983)Agg>Tgg p.R661W NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CACAGGTCCCTCTCTAGCTGG 0.562000 71 13 0 0 0.003610 0 0 HRH4 59340 broad.mit.edu 37 18 22056718 22056718 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:22056718A>T ENST00000256906.4 + 3 465 c.365A>T c.(364-366)tAt>tTt p.Y122F HRH4_ENST00000426880.2_Intron NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 122 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TAGGTGTCTTATAGAACTCAA 0.378000 7 42 0 0 0.001984 0 0 GIN1 54826 broad.mit.edu 37 5 102423676 102423676 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:102423676C>A ENST00000399004.2 - 8 1589 c.1495G>T c.(1495-1497)Gat>Tat p.D499Y GIN1_ENST00000508629.1_3'UTR NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 499 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) GAACTATGATCGTCTATCAAT 0.318000 33 53 3.80469e-20 5.76469e-20 0.001786 1 0 HTR2A 3356 broad.mit.edu 37 13 47409480 47409480 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:47409480G>A ENST00000378688.4 - 3 1039 c.908C>T c.(907-909)cCa>cTa p.P303L HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L|HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 303 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.P303Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTAGGACCCTGGCTCCCTATG 0.517000 21 29 0 0 0.002299 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658323 144658323 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:144658323C>A ENST00000449291.2 - 8 1326 c.1032G>T c.(1030-1032)gtG>gtT p.V344V NAPRT1_ENST00000426292.3_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Silent_p.V344V Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 344 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAGCCAGGGCACCTGGAACC 0.667000 20 34 7.41877e-09 9.61693e-09 0.001882 1 0 PLEC 5339 broad.mit.edu 37 8 145016653 145016653 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:145016653G>T ENST00000357649.2 - 1 39 c.31C>A c.(31-33)Ccg>Acg p.P11T PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000398774.2_Intron NM_201383.1 NP_958785.1 Q15149 PLEC_HUMAN plectin 0 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACCTCCCTCGGCGAGGCAAAG 0.756000 23 13 4.54149e-19 6.82197e-19 0.002299 1 0 ACY3 91703 broad.mit.edu 37 11 67410230 67410230 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:67410230G>T ENST00000255082.3 - 8 1095 c.925C>A c.(925-927)Ccc>Acc p.P309T ACY3_ENST00000529256.1_Missense_Mutation_p.P188T NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 309 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) GTCAGCGCGGGCATGGCAGGC 0.587000 45 98 4.78724e-31 7.72136e-31 0.003610 1 0 KDM6A 7403 broad.mit.edu 37 X 44938390 44938390 + Splice_Site SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:44938390G>C ENST00000377967.4 + 20 2979 c.e20-1 KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TATTCATGAAGACCTGGGACT 0.328000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 11 1 0 0 0.008291 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509618 171509618 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:171509618G>T ENST00000367742.3 + 16 3255 c.3013G>T c.(3013-3015)Gaa>Taa p.E1005* PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005* Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1003 protein C-terminus binding TAACAGAAGGGAAGAAGTTAA 0.413000 17 16 1.02788e-11 1.38369e-11 0.004990 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 20 0 0 0.001168 0 0 DNAH5 1767 broad.mit.edu 37 5 13719184 13719184 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:13719184G>T ENST00000265104.4 - 72 12410 c.12306C>A c.(12304-12306)tgC>tgA p.C4102* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4102 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) GTCCCAGATGGCAGTTCTGCA 0.418000 Kartagener syndrome 22 29 1.10513e-12 1.51685e-12 0.002299 1 0 PEAK1 79834 broad.mit.edu 37 15 77474169 77474169 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:77474169C>T ENST00000560626.2 - 4 575 c.100G>A c.(100-102)Gag>Aag p.E34K PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 34 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGTGCCTTCTCAGGGTCTGGG 0.468000 8 182 0 0 0.008291 0 0 FAM135B 51059 broad.mit.edu 37 8 139151251 139151251 + Silent SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:139151251G>C ENST00000395297.1 - 18 4049 c.3879C>G c.(3877-3879)ctC>ctG p.L1293L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1293 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTAGTTGGTAGAGGAAACATT 0.448000 HNSCC(54;0.14) 12 127 0 0 0.001368 0 0 KIAA1217 56243 broad.mit.edu 37 10 24727394 24727394 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:24727394A>G ENST00000376454.3 + 5 862 c.832A>G c.(832-834)Aat>Gat p.N278D KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 278 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAAAACTATGAATGGAGACAT 0.403000 43 56 0 0 0.008740 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221511 10221511 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:10221511C>T ENST00000428358.1 + 11 1342 c.1170C>T c.(1168-1170)ttC>ttT p.F390F PPAN_ENST00000253107.7_Silent_p.F390F|PPAN_ENST00000556468.1_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000393793.1_Silent_p.F337F NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 390 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TCGAGTATTTCTGCCAGGCGG 0.607000 67 140 0 0 0.003610 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 9 35 0 0 0.001855 0 0 RYR2 6262 broad.mit.edu 37 1 237865319 237865319 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:237865319T>A ENST00000366574.2 + 66 9726 c.9409T>A c.(9409-9411)Tta>Ata p.L3137I RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I|RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3137 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) TCTGACTAGCTTATATGCTTT 0.328000 32 16 0 0 0.004289 0 0 CDK8 1024 broad.mit.edu 37 13 26911771 26911771 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:26911771G>C ENST00000381527.3 + 2 699 c.196G>C c.(196-198)Gaa>Caa p.E66Q CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 66 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GGCATGTAGAGAAATAGCAGT 0.294000 30 51 0 0 0.003755 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113511 55113511 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:55113511G>T ENST00000370862.3 + 2 634 c.298G>T c.(298-300)Gat>Tat p.D100Y NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 100 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTCTGGCTGATGTGCTCGT 0.453000 56 102 6.4308e-24 9.95921e-24 0.003610 1 0 HNF1A 6927 broad.mit.edu 37 12 121438953 121438953 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:121438953C>A ENST00000257555.6 + 10 2080 c.1854C>A c.(1852-1854)atC>atA p.I618I RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000544413.1_Silent_p.I625I|HNF1A_ENST00000541395.1_Silent_p.I649I P20823 HNF1A_HUMAN HNF1 homeobox A 618 I -> M (in MODY3). glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACAGCGTCATCGAGACCTTCA 0.617000 Hepatic Adenoma, Familial Clustering of 10 5 1.58986e-06 1.98026e-06 0.008291 1 0 APC 324 broad.mit.edu 37 5 112151205 112151205 + Missense_Mutation SNP G G A rs149154604 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:112151205G>A ENST00000457016.1 + 9 1228 c.848G>A c.(847-849)cGa>cAa p.R283Q APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q P25054 APC_HUMAN adenomatous polyposis coli 283 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCAACTACACGAATGGACCAT 0.383000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 17 31 0 0 0.008871 0 0 ZNF233 353355 broad.mit.edu 37 19 44778658 44778658 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:44778658G>T ENST00000391958.2 + 5 1972 c.1845G>T c.(1843-1845)acG>acT p.T615T ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GGATCCACACGGGAGAGAAAC 0.438000 38 56 1.06647e-15 1.53607e-15 0.003755 1 0 STK31 56164 broad.mit.edu 37 7 23871841 23871841 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:23871841C>T ENST00000354639.3 + 24 3311 c.2847C>T c.(2845-2847)ttC>ttT p.F949F STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000428484.1_Silent_p.F949F|STK31_ENST00000355870.3_Silent_p.F972F|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 972 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTGAATGTTTCTTGATGCCAA 0.353000 68 60 0 0 0.003610 0 0 BNC1 646 broad.mit.edu 37 15 83926817 83926817 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:83926817C>T ENST00000345382.2 - 5 2447 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E781K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 788 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AAATGATCTTCACTACTCTCC 0.458000 36 63 0 0 0.005524 0 0 TECRL 253017 broad.mit.edu 37 4 65147243 65147243 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:65147243G>A ENST00000381210.3 - 10 977 c.867C>T c.(865-867)aaC>aaT p.N289N TECRL_ENST00000507440.1_Silent_p.N289N NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 289 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 ATGTGAAGGGGTTATAATTTG 0.328000 19 7 0 0 0.006122 0 0 LEPR 3953 broad.mit.edu 37 1 66081724 66081724 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:66081724C>T ENST00000349533.6 + 15 2214 c.2029C>T c.(2029-2031)Cag>Tag p.Q677* LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677* NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 677 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GTGCAGTGTTCAGAGATATGT 0.393000 15 15 0 0 0.004007 0 0 MUC3A 4584 broad.mit.edu 37 7 100551864 100551864 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:100551864C>G ENST00000319509.7 + 1 615 c.615C>G c.(613-615)ctC>ctG p.L205L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAACTTCACTCACATCTACAA 0.438000 56 515 0 0 0.003610 0 0 MTMR11 10903 broad.mit.edu 37 1 149905389 149905389 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:149905389C>T ENST00000439741.2 - 10 1145 c.895G>A c.(895-897)Gat>Aat p.D299N MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 299 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AGGACAACATCTGAATGCCCA 0.547000 31 105 0 0 0.002445 0 0 LDLRAD4 753 broad.mit.edu 37 18 13621229 13621229 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:13621229C>T ENST00000361205.4 + 5 963 c.295C>T c.(295-297)Cgc>Tgc p.R99C LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R99C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 p.R99C(2)|p.R62C(1) CTTCATCAACCGCCCGAACCA 0.637000 102 29 0 0 0.003610 0 0 TRGV2 6974 broad.mit.edu 37 7 38402465 38402465 + RNA SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:38402465C>A ENST00000426402.2 - 0 543 AATCACTGTGCCCGTCCCAGG 0.473000 31 27 6.00712e-18 8.87128e-18 0.002445 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94791279 94791279 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:94791279G>A ENST00000289495.5 + 4 1966 c.1750G>A c.(1750-1752)Gtc>Atc p.V584I AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 584 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAAGGGCAACGTCAGGTAAAT 0.363000 HNSCC(28;0.073) 5 3 0 0 0.001168 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627262 21627262 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:21627262C>G ENST00000425654.2 + 19 2609 c.2129C>G c.(2128-2130)tCt>tGt p.S710C CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 740 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CAGTCTCAGTCTTCTCATGAG 0.517000 34 10 0 0 0.003271 0 0 PRSS37 136242 broad.mit.edu 37 7 141536336 141536336 + Splice_Site SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:141536336C>A ENST00000350549.3 - 5 939 c.e5-1 PRSS37_ENST00000438520.1_Splice_Site NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 CGGCCACCTCCTACCGGAGAT 0.547000 12 4 6.40141e-05 7.8066e-05 0.000978 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 5 88 0 0 0.000602 0 0 ZNF776 284309 broad.mit.edu 37 19 58265188 58265188 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:58265188C>A ENST00000317178.5 + 3 953 c.690C>A c.(688-690)ctC>ctA p.L230L NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) AGAGACTTCTCCCTAGAGAAG 0.418000 38 69 1.04594e-18 1.56444e-18 0.006230 1 0 SDCCAG3 10807 broad.mit.edu 37 9 139301763 139301763 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:139301763G>A ENST00000298537.7 - 4 795 c.584C>T c.(583-585)cCg>cTg p.P195L SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 218 cytoplasm p.P218L(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CAGCTCCGACGGGGTGGAGAA 0.657000 11 8 0 0 0.000978 0 0 MGAM 8972 broad.mit.edu 37 7 141755884 141755884 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:141755884A>C ENST00000475668.2 + 29 3622 c.3568A>C c.(3568-3570)Agc>Cgc p.S1190R MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1190 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTGCTGAACAGCAATGCCAT 0.512000 8 3 0 0 0.003080 0 0 LRRK1 79705 broad.mit.edu 37 15 101567909 101567909 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:101567909G>T ENST00000284395.5 + 20 2984 c.2584G>T c.(2584-2586)Gac>Tac p.D862Y LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 865 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGCCGGGACGACGACGTGCA 0.662000 12 7 7.93312e-07 9.9164e-07 0.002450 1 0 ALG5 29880 broad.mit.edu 37 13 37524134 37524134 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:37524134C>T ENST00000239891.3 - 10 986 c.920G>A c.(919-921)cGa>cAa p.R307Q ALG5_ENST00000443765.1_Missense_Mutation_p.R277Q NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 307 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) ATATCGAAGTCGTATAAAAAG 0.353000 16 33 0 0 0.006122 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216179 20216179 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:20216179T>A ENST00000331723.1 + 1 593 c.593T>A c.(592-594)gTg>gAg p.V198E NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGTAGAGGTGCTGGTGATA 0.493000 25 36 0 0 0.002780 0 0 MUC5B 727897 broad.mit.edu 37 11 1263788 1263788 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:1263788C>A ENST00000447027.1 + 31 5745 c.5687C>A c.(5686-5688)tCc>tAc p.S1896Y MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1893 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACCAGCTCCACGGCCACG 0.612000 45 81 1.86633e-21 2.86499e-21 0.003610 1 0 GRM8 2918 broad.mit.edu 37 7 126544151 126544151 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:126544151T>C ENST00000339582.2 - 5 1701 c.893A>G c.(892-894)aAc>aGc p.N298S GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 298 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCACTTTGGTTTAGTTTTTT 0.368000 HNSCC(24;0.065) 42 60 0 0 0.002222 0 0 TTN 7273 broad.mit.edu 37 2 179596593 179596593 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:179596593C>G ENST00000589042.1 - 58 17233 c.17009G>C c.(17008-17010)tGg>tCg p.W5670S TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5353 Ig-like 37. 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) ATCTTTGAACCAAGTGATCTC 0.428000 37 139 0 0 0.004289 0 0 LYZL6 57151 broad.mit.edu 37 17 34266465 34266465 + Translation_Start_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:34266465G>T ENST00000585556.1 - 0 230 LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame O75951 LYZL6_HUMAN lysozyme-like 6 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGGCAGCCAGGTTTCCTTAC 0.448000 8 23 0.00307968 0.00365386 0.003080 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110451290 110451290 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:110451290G>A ENST00000378402.5 + 32 4029 c.3925G>A c.(3925-3927)Gaa>Aaa p.E1309K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1309 IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATCTATGTAGAAGTCAGAAA 0.398000 HNSCC(38;0.096) 64 106 0 0 0.003610 0 0 PRRX1 5396 broad.mit.edu 37 1 170688866 170688866 + Splice_Site SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:170688866G>C ENST00000239461.6 + 2 554 c.e2-1 PRRX1_ENST00000367760.3_Splice_Site|PRRX1_ENST00000497230.2_Splice_Site NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCTATTCCAGATGACCAGCT 0.408000 14 19 0 0 0.003163 0 0 OR1N2 138882 broad.mit.edu 37 9 125315511 125315511 + Silent SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:125315511G>C ENST00000373688.2 + 1 121 c.63G>C c.(61-63)gtG>gtC p.V21V NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CAGGCAGAGTGAACCAAACCA 0.448000 39 59 0 0 0.004289 0 0 RSRC1 51319 broad.mit.edu 37 3 157920993 157920993 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:157920993G>C ENST00000295930.3 + 4 615 c.453G>C c.(451-453)aaG>aaC p.K151N RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 151 EK -> GE (in Ref. 3; AAF64267). nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) aaaaggagaaggataaaggga 0.448000 9 25 0 0 0.004482 0 0 MYO7A 4647 broad.mit.edu 37 11 76916513 76916513 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:76916513C>T ENST00000409709.3 + 40 5759 c.5487C>T c.(5485-5487)agC>agT p.S1829S MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1829 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCAGGTACAGCGAGGAGCGGG 0.677000 5 0 0 0 0.000602 0 0 AFF2 2334 broad.mit.edu 37 X 148072769 148072769 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:148072769G>T ENST00000370460.2 + 21 4322 c.3843G>T c.(3841-3843)atG>atT p.M1281I AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I|AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000286437.5_Missense_Mutation_p.M922I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1281 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACACGCTGATGGGGCCTCTGA 0.493000 62 18 2.02796e-37 3.36391e-37 0.003610 1 0 PSKH2 85481 broad.mit.edu 37 8 87060915 87060915 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:87060915C>G ENST00000276616.2 - 3 1008 c.934G>C c.(934-936)Ggc>Cgc p.G312R NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 312 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) AGGGCCTGGCCAGCTGACATG 0.512000 36 49 0 0 0.004289 0 0 FBXL7 23194 broad.mit.edu 37 5 15616151 15616151 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:15616151A>G ENST00000504595.1 + 2 578 c.97A>G c.(97-99)Aaa>Gaa p.K33E FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 33 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CACGCCCACTAAAGCCCAGAA 0.453000 10 25 0 0 0.001368 0 0 TBX3 6926 broad.mit.edu 37 12 115109999 115109999 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:115109999G>A ENST00000349155.2 - 7 2782 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S TBX3_ENST00000257566.3_Missense_Mutation_p.P627S NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 627 Transcription repression. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TTGAGGAAGGGGTGGCGGTGC 0.682000 3 2 0 0 0.004672 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459000 45459000 + RNA SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:45459000C>T ENST00000548424.1 + 0 448 AGTCAGTCCTCTCCCACTTTT 0.448000 10 17 0 0 0.006214 0 0 OR5P2 120065 broad.mit.edu 37 11 7818034 7818034 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:7818034A>G ENST00000329434.2 - 1 486 c.456T>C c.(454-456)gcT>gcC p.A152A RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TATAGGAGACAGCAATGAGAA 0.388000 31 44 0 0 0.002096 0 0 LRP4 4038 broad.mit.edu 37 11 46908046 46908046 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:46908046T>C ENST00000378623.1 - 17 2496 c.2254A>G c.(2254-2256)Atc>Gtc p.I752V NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 752 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ATTCGACGGATGTCCATCCTT 0.517000 25 34 0 0 0.006320 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945358 16945358 + RNA SNP G G C rs945905 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16945358G>C ENST00000412962.1 - 0 2161 AGTAGGAGAAGAGAGAGGAAG 0.567000 6 8 0 0 0.001168 0 0 CCDC150 284992 broad.mit.edu 37 2 197538986 197538986 + Missense_Mutation SNP A A G rs36060491 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:197538986A>G ENST00000389175.4 + 10 1186 c.1051A>G c.(1051-1053)Aaa>Gaa p.K351E CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 351 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CCAATTGACTAAAAAGTGTTC 0.343000 7 9 0 0 0.001984 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994844 143994844 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:143994844C>A ENST00000323110.2 - 6 980 c.978G>T c.(976-978)acG>acT p.T326T NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 326 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCTCAAAGAGCGTCATCAGCA 0.622000 Familial Hyperaldosteronism type I 27 151 3.73148e-12 5.08178e-12 0.007291 1 0 ARHGAP17 55114 broad.mit.edu 37 16 24980081 24980081 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:24980081C>A ENST00000289968.6 - 5 354 c.285G>T c.(283-285)gaG>gaT p.E95D ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 95 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CTCCACACGTCTCCAGCATCT 0.507000 27 38 2.41591e-17 3.53794e-17 0.004656 1 0 SLC15A1 6564 broad.mit.edu 37 13 99364806 99364806 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:99364806A>G ENST00000376503.5 - 10 811 c.756T>C c.(754-756)agT>agC p.S252S NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 252 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GAAATGCCTTACTCCGATGCC 0.433000 37 92 0 0 0.007835 0 0 COX10 1352 broad.mit.edu 37 17 13977709 13977709 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:13977709A>G ENST00000261643.3 + 2 190 c.113A>G c.(112-114)cAt>cGt p.H38R COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.H38R NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 38 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AAGTTCTTACATCTTCTCAGG 0.403000 63 95 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179465721 179465721 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:179465721C>A ENST00000589042.1 - 288 56134 c.55910G>T c.(55909-55911)cGt>cTt p.R18637L TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16996 Fibronectin type-III 35. 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) TTCCACATCACGCTTATTGCA 0.488000 138 102 2.82259e-58 4.70432e-58 0.003610 1 0 OR5H1 26341 broad.mit.edu 37 3 97852283 97852283 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:97852283G>T ENST00000354565.2 + 1 742 c.742G>T c.(742-744)Gtc>Ttc p.V248F RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 TCTCTTCTCTGTCTCTTTATA 0.413000 45 160 3.7052e-28 5.86797e-28 0.003214 1 0 IVNS1ABP 10625 broad.mit.edu 37 1 185276680 185276680 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:185276680G>C ENST00000367498.3 - 6 1094 c.472C>G c.(472-474)Cag>Gag p.Q158E IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 158 BACK. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 AAATGCTCCTGAATATAAGCA 0.363000 25 70 0 0 0.004656 0 0 APOB 338 broad.mit.edu 37 2 21228818 21228818 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:21228818G>T ENST00000233242.1 - 26 11049 c.10922C>A c.(10921-10923)tCt>tAt p.S3641Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3641 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAAAGACCCAGAATGAATCCG 0.463000 14 26 1.5842e-08 2.04602e-08 0.001855 1 0 C1orf173 127254 broad.mit.edu 37 1 75037100 75037100 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:75037100C>A ENST00000326665.5 - 14 4512 c.4294G>T c.(4294-4296)Ggc>Tgc p.G1432C C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1432 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTGGAGTGCCCACCCCAGCC 0.612000 58 33 2.43698e-19 3.67648e-19 0.003610 1 0 CSMD3 114788 broad.mit.edu 37 8 113697930 113697930 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:113697930C>A ENST00000297405.5 - 15 2431 c.2187G>T c.(2185-2187)atG>atT p.M729I CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 729 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAACTGTTCCCATTGGTGCAG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 64 1.74197e-06 2.16202e-06 0.006320 1 0 PMFBP1 83449 broad.mit.edu 37 16 72188112 72188112 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:72188112C>T ENST00000537465.1 - 4 570 c.412G>A c.(412-414)Gag>Aag p.E138K PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K|PMFBP1_ENST00000355636.6_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 138 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GTCTATACCTCATCTTCTTTC 0.463000 42 68 0 0 0.002522 0 0 MUC16 94025 broad.mit.edu 37 19 9000496 9000496 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:9000496C>A ENST00000397910.4 - 54 40691 c.40488G>T c.(40486-40488)atG>atT p.M13496I MUC16_ENST00000380951.5_Missense_Mutation_p.M137I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13498 SEA 10. 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 CAGGGTGATGCATGTTCTCCT 0.478000 33 66 9.65021e-13 1.32975e-12 0.002096 1 0 HMCN1 83872 broad.mit.edu 37 1 185946936 185946936 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:185946936C>T ENST00000271588.4 + 16 2618 c.2389C>T c.(2389-2391)Caa>Taa p.Q797* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 797 Ig-like C2-type 5. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGTTTTCATACAAGAACCTGC 0.343000 49 61 0 0 0.003610 0 0 ROS1 6098 broad.mit.edu 37 6 117709005 117709005 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:117709005G>A ENST00000368508.3 - 13 2150 c.1952C>T c.(1951-1953)gCa>gTa p.A651V GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 651 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGGAGAACTTGCTCTCACAGA 0.488000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 50 70 0 0 0.003610 0 0 DMD 1756 broad.mit.edu 37 X 32404497 32404497 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:32404497G>T ENST00000357033.4 - 33 4810 c.4604C>A c.(4603-4605)aCg>aAg p.T1535K DMD_ENST00000378677.2_Missense_Mutation_p.T1531K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1535 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGGATTTTCCGTCTGCTTTTT 0.383000 49 13 2.43139e-17 3.54578e-17 0.003610 1 0 ZNF560 147741 broad.mit.edu 37 19 9577562 9577562 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:9577562G>A ENST00000301480.4 - 10 2274 c.2061C>T c.(2059-2061)aaC>aaT p.N687N NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 687 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 TTCCACATGCGTTACATTCAG 0.373000 69 111 0 0 0.003610 0 0 NUDT9 53343 broad.mit.edu 37 4 88344060 88344060 + Translation_Start_Site SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:88344060G>A ENST00000302174.4 + 1 327 c.3G>A c.(1-3)atG>atA p.M1I NUDT9_ENST00000473942.1_Intron NM_024047.4 NP_076952.1 Q9BW91 NUDT9_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 9 1 mitochondrion ADP-ribose diphosphatase activity endometrium(1)|large_intestine(4)|lung(6) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) GGGCGCTCATGGCGGGACGCC 0.672000 32 52 0 0 0.001786 0 0 ROS1 6098 broad.mit.edu 37 6 117683782 117683782 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:117683782C>A ENST00000368508.3 - 21 3563 c.3365G>T c.(3364-3366)tGc>tTc p.C1122F GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1122 Fibronectin type-III 5. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGCAATAAAGCATCTGGGACT 0.408000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 12 26 0.00010058 0.00012181 0.001368 1 0 WDR96 80217 broad.mit.edu 37 10 105893540 105893540 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:105893540A>G ENST00000357060.3 - 35 4549 c.4434T>C c.(4432-4434)acT>acC p.T1478T WDR96_ENST00000428666.1_Silent_p.T1450T|WDR96_ENST00000479392.1_5'UTR NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1478 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTTGTCCTTGAGTCTTTAAAA 0.318000 15 31 0 0 0.004007 0 0 NUP210L 91181 broad.mit.edu 37 1 154034118 154034118 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:154034118C>T ENST00000368559.3 - 18 2658 c.2587G>A c.(2587-2589)Ggg>Agg p.G863R NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 863 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGTACAGTCCCTTTTATCTGA 0.338000 27 53 0 0 0.002836 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473030 22473030 + RNA SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:22473030G>T ENST00000557788.2 - 0 240 TTGAGGGACGGGTTGTAGTTG 0.567000 65 159 6.20203e-27 9.73413e-27 0.003610 1 0 CLCNKA 1187 broad.mit.edu 37 1 16358311 16358311 + Missense_Mutation SNP A A G rs139001368 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16358311A>G ENST00000375692.1 + 17 1857 c.1729A>G c.(1729-1731)Acc>Gcc p.T577A CLCNKA_ENST00000331433.4_Missense_Mutation_p.T577A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A|CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 577 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CACAGACGTGACCGAGTATCC 0.607000 4 41 0 0 0.006214 0 0 STIL 6491 broad.mit.edu 37 1 47717390 47717390 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:47717390G>A ENST00000360380.3 - 18 3645 c.3282C>T c.(3280-3282)agC>agT p.S1094S STIL_ENST00000371877.3_Silent_p.S1095S|STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1094 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TATGGAGAAGGCTGAATGGGT 0.373000 69 42 0 0 0.003610 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139424 90139424 + RNA SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:90139424C>A ENST00000492446.1 + 0 222 CAGAGAAAGCCCCTAAGTCCC 0.522000 103 218 3.52173e-36 5.81417e-36 0.003610 1 0 OR5T3 390154 broad.mit.edu 37 11 56019812 56019812 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:56019812G>C ENST00000303059.3 + 1 137 c.137G>C c.(136-138)gGc>gCc p.G46A NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ATATTGACAGGCTTCACAGAT 0.373000 41 67 0 0 0.003214 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913203 143913203 + Silent SNP T T C rs146989390 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:143913203T>C ENST00000409869.1 + 3 321 c.144T>C c.(142-144)gaT>gaC p.D48D ARHGAP15_ENST00000295095.6_Silent_p.D48D Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 48 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCCTCACCGATGTCGGGAAGG 0.423000 26 23 0 0 0.007291 0 0 CSMD3 114788 broad.mit.edu 37 8 113246662 113246662 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:113246662G>T ENST00000297405.5 - 68 10916 c.10672C>A c.(10672-10674)Ctt>Att p.L3558I CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3558 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTTTAATAAGATATATGCGT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 50 95 1.4374e-25 2.24594e-25 0.003610 1 0 CDH9 1007 broad.mit.edu 37 5 26885803 26885803 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:26885803G>T ENST00000231021.4 - 11 1974 c.1802C>A c.(1801-1803)aCc>aAc p.T601N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 601 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GGCTTCTGCGGTGCAGGATTG 0.488000 6 20 5.9392e-07 7.45061e-07 0.001168 1 0 FAM188A 80013 broad.mit.edu 37 10 15828592 15828592 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:15828592C>A ENST00000378036.1 - 4 1375 c.199G>T c.(199-201)Ggc>Tgc p.G67C FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 362 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 AGAAATGGGCCCAATAATATG 0.338000 38 77 6.97489e-18 1.02572e-17 0.004878 1 0 GAA 2548 broad.mit.edu 37 17 78081647 78081647 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:78081647G>A ENST00000302262.3 + 5 1126 c.907G>A c.(907-909)Gac>Aac p.D303N GAA_ENST00000390015.3_Missense_Mutation_p.D303N NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 303 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGCGCTGGAGGACGGCGGGTC 0.687000 3 25 0 0 0.004672 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709388 31709388 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:31709388C>A ENST00000382835.2 - 1 624 c.599G>T c.(598-600)gGt>gTt p.G200V NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 200 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TTGAGAACCACCAGTAACACA 0.408000 14 29 0.000219431 0.000263921 0.002450 1 0 FAM60A 58516 broad.mit.edu 37 12 31435799 31435799 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:31435799C>T ENST00000337682.4 - 6 881 c.513G>A c.(511-513)aaG>aaA p.K171K FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K|FAM60A_ENST00000539409.1_Silent_p.K23K NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 171 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) CACAACATATCTTCTGTCTAA 0.353000 17 29 0 0 0.007413 0 0 AGL 178 broad.mit.edu 37 1 100327061 100327061 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:100327061T>C ENST00000294724.4 + 3 563 c.85T>C c.(85-87)Tat>Cat p.Y29H AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000361522.4_Missense_Mutation_p.Y12H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 29 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTATTTAGGGTATGAGCTACA 0.308000 12 9 0 0 0.001368 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627413 140627413 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140627413C>A ENST00000231173.3 + 1 2267 c.2267C>A c.(2266-2268)aCg>aAg p.T756K NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 756 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGTGTCTGACGGGAGGCTCT 0.517000 71 120 4.98182e-18 7.38829e-18 0.003610 1 0 INHBA 3624 broad.mit.edu 37 7 41739824 41739824 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:41739824G>T ENST00000242208.4 - 2 395 c.149C>A c.(148-150)tCt>tAt p.S50Y INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 50 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.S50Y(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTCTGGCTGAGAGTTGGGTAC 0.612000 TSP Lung(11;0.080) 187 256 7.59282e-81 1.27764e-80 0.003610 1 0 MSC 9242 broad.mit.edu 37 8 72754902 72754902 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:72754902G>T ENST00000325509.4 - 2 904 c.615C>A c.(613-615)acC>acA p.T205T RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 205 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CGATTTAAGCGGTGGTTCCAC 0.493000 200 317 3.50731e-122 5.98809e-122 0.003610 1 0 STK31 56164 broad.mit.edu 37 7 23827673 23827673 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:23827673A>G ENST00000354639.3 + 21 2957 c.2493A>G c.(2491-2493)tcA>tcG p.S831S STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000428484.1_Silent_p.S831S|STK31_ENST00000355870.3_Silent_p.S854S|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 854 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTCATGGATCACTTCATCAGA 0.353000 33 93 0 0 0.002836 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029194 41029194 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:41029194C>A ENST00000244669.2 + 2 303 c.259C>A c.(259-261)Cgg>Agg p.R87R NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 87 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAGGCATCTCGGGGATACCT 0.567000 36 82 4.34311e-12 5.89181e-12 0.003271 1 0 AOX1 316 broad.mit.edu 37 2 201468754 201468754 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:201468754C>G ENST00000374700.2 + 8 844 c.603C>G c.(601-603)ctC>ctG p.L201L NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 201 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.L201L(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTCCAAAACTCTTCGCAGAAG 0.383000 32 30 0 0 0.002836 0 0 VKORC1 79001 broad.mit.edu 37 16 31105904 31105904 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:31105904G>A ENST00000319788.7 - 1 357 c.147C>T c.(145-147)atC>atT p.I49I RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000300851.6_Silent_p.I49I|VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000394975.2_Silent_p.I49I Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 49 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) GCGAACAGCTGATGGCGGTGC 0.682000 12 11 0 0 0.001368 0 0 RYR3 6263 broad.mit.edu 37 15 33954863 33954863 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:33954863G>C ENST00000389232.4 + 35 5202 c.5132G>C c.(5131-5133)cGa>cCa p.R1711P RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1711 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R1711L(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCCACATCCGAGACCCTGTA 0.562000 23 18 0 0 0.003330 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098973 178098973 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:178098973C>G ENST00000397062.3 - 2 626 c.72G>C c.(70-72)tgG>tgC p.W24C NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 24 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.W24C(5) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TATCTTGCCTCCAAAGTATGT 0.348000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 19 20 0 0 0.006122 0 0 SLC24A5 283652 broad.mit.edu 37 15 48434437 48434437 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:48434437C>T ENST00000341459.3 + 9 1465 c.1392C>T c.(1390-1392)gaC>gaT p.D464D MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Silent_p.D404D NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 464 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GGAAACTAGACAGAAAGTTGG 0.343000 40 20 0 0 0.006999 0 0 MAGI3 260425 broad.mit.edu 37 1 114216018 114216018 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:114216018G>A ENST00000369615.1 + 19 3182 c.3120G>A c.(3118-3120)gaG>gaA p.E1040E MAGI3_ENST00000369611.4_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000307546.9_Silent_p.E1040E NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1065 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGGAAGGAGTACAACATGG 0.488000 64 39 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26242187 26242187 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr22:26242187C>A ENST00000335473.7 + 19 3739 c.3489C>A c.(3487-3489)acC>acA p.T1163T MYO18B_ENST00000407587.2_Silent_p.T1164T|MYO18B_ENST00000536101.1_Silent_p.T1163T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1163 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGAGGAGGACCTTTGCCAGCA 0.672000 27 36 1.04121e-07 1.33002e-07 0.005443 1 0 SPACA1 81833 broad.mit.edu 37 6 88763681 88763681 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:88763681G>C ENST00000237201.1 + 2 343 c.226G>C c.(226-228)Gtc>Ctc p.V76L NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 76 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TAGGAATGTCGTCAAAGAAGT 0.348000 8 20 0 0 0.008291 0 0 GLUD1 2746 broad.mit.edu 37 10 88836358 88836358 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:88836358C>T ENST00000277865.4 - 2 597 c.501G>A c.(499-501)ctG>ctA p.L167L GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 167 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTATGTCATCAGAGAAGCCA 0.413000 25 36 0 0 0.004656 0 0 KCNN2 3781 broad.mit.edu 37 5 113831815 113831815 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:113831815G>T ENST00000512097.3 + 9 2694 c.1676G>T c.(1675-1677)cGg>cTg p.R559L KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 559 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GAGCGGTCCCGGTCCTCGTCC 0.512000 31 74 2.08457e-15 2.96585e-15 0.002096 1 0 OR2AT4 341152 broad.mit.edu 37 11 74800246 74800246 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:74800246C>G ENST00000305159.3 - 1 553 c.513G>C c.(511-513)atG>atC p.M171I NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 TGTTATATGCCATCTGGGAGG 0.572000 25 9 0 0 0.003954 0 0 HECTD4 283450 broad.mit.edu 37 12 112622228 112622228 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:112622228G>A ENST00000550722.1 - 61 10499 c.10104C>T c.(10102-10104)gcC>gcT p.A3368A HECTD4_ENST00000377560.5_Silent_p.A3342A|HECTD4_ENST00000430131.2_Silent_p.A3092A NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTCGAGGCCGGCAGGCAGCG 0.677000 11 1 0 0 0.008291 0 0 HDHD1 8226 broad.mit.edu 37 X 7023726 7023726 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:7023726T>C ENST00000381077.5 - 2 291 c.215A>G c.(214-216)gAg>gGg p.E72G HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000412827.2_Intron NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 72 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 CACCAGCTCCTCTTTGGACAT 0.502000 16 0 0 0 0.004007 0 0 RELT 84957 broad.mit.edu 37 11 73101965 73101965 + Splice_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:73101965G>T ENST00000064780.2 + 4 547 c.287_splice c.e4+1 p.G96_splice RELT_ENST00000393580.2_Splice_Site_p.G96_splice NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 96 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 CTGCTGGCCTGGGTAAGCCAA 0.632000 24 19 1.77063e-15 2.52947e-15 0.005443 1 0 GRIN2A 2903 broad.mit.edu 37 16 10274094 10274094 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:10274094G>T ENST00000396573.2 - 3 484 c.175C>A c.(175-177)Cag>Aag p.Q59K GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 59 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGCCGCCTGCTCGGGGCCC 0.657000 44 77 1.8453e-21 2.84517e-21 0.002522 1 0 MRPL39 54148 broad.mit.edu 37 21 26960033 26960033 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:26960033G>A ENST00000307301.7 - 10 1079 c.1038C>T c.(1036-1038)ctC>ctT p.L346L MRPL39_ENST00000352957.4_Intron NM_080794.3 NP_542984.2 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 0 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 TTCCATGGAGGAGGTACGACT 0.348000 15 38 0 0 0.003163 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913079 143913079 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:143913079C>G ENST00000409869.1 + 3 197 c.20C>G c.(19-21)tCt>tGt p.S7C ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 7 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCTACAAATTCTGATACTTCC 0.373000 11 18 0 0 0.008291 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795413 142795413 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:142795413G>T ENST00000370498.1 - 2 1018 c.265C>A c.(265-267)Cta>Ata p.L89I NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 89 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GCTGAGTCTAGGCCTTCGTCC 0.488000 252 73 9.62967e-114 1.63611e-113 0.003610 1 0 FBN1 2200 broad.mit.edu 37 15 48818391 48818391 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:48818391G>A ENST00000316623.5 - 9 1379 c.924C>T c.(922-924)gtC>gtT p.V308V NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 308 EGF-like 5; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGTAACTGCTGACTGTGTTTG 0.403000 50 11 0 0 0.003610 0 0 PBX2 5089 broad.mit.edu 37 6 32154610 32154610 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:32154610C>T ENST00000375050.4 - 7 1363 c.1093G>A c.(1093-1095)Gat>Aat p.D365N NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 365 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GAATAGGAATCTCCGTTGAGC 0.512000 30 55 0 0 0.002445 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651373 15651373 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:15651373C>T ENST00000269703.2 + 8 983 c.784C>T c.(784-786)Cgg>Tgg p.R262W CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 262 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GGCGGATGGGCGGAGGTTCCG 0.607000 29 90 0 0 0.007291 0 0 TCEANC2 127428 broad.mit.edu 37 1 54562036 54562036 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:54562036C>T ENST00000234827.1 + 5 717 c.517C>T c.(517-519)Cgg>Tgg p.R173W TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W|TCEANC2_ENST00000498272.1_3'UTR NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 173 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 GCCGTACCGGCGGACGGTGAG 0.512000 38 20 0 0 0.004878 0 0 KIF26B 55083 broad.mit.edu 37 1 245849620 245849620 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:245849620G>T ENST00000366518.4 + 9 2296 c.2192G>T c.(2191-2193)gGc>gTc p.G731V KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V Q2KJY2 KI26B_HUMAN kinesin family member 26B 1112 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AAGGATTCCGGCGTGGCGTCT 0.612000 56 125 3.31993e-32 5.37951e-32 0.003610 1 0 OR2T1 26696 broad.mit.edu 37 1 248569514 248569514 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:248569514C>A ENST00000366474.1 + 1 219 c.219C>A c.(217-219)acC>acA p.T73T NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAAGGAAACCTCAGGTCTTA 0.423000 83 73 1.20873e-29 1.93176e-29 0.003610 1 0 MITD1 129531 broad.mit.edu 37 2 99797327 99797327 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:99797327C>T ENST00000289359.2 - 1 194 c.118G>A c.(118-120)Gag>Aag p.E40K MRPL30_ENST00000410042.1_Intron NM_138798.1 NP_620153.1 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, domain containing 1 40 MIT. protein transport late endosome membrane large_intestine(3)|lung(2)|ovary(1) 6 TCAATCCCCTCTTGGTAACAC 0.582000 65 104 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438354 25438354 + RNA SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:25438354C>G ENST00000424208.1 + 0 1213 SNHG14_ENST00000414175.1_RNA NR_003305.1 GTGCTGAGCCCCTGGTGCACT 0.597000 46 16 0 0 0.002222 0 0 IARS 3376 broad.mit.edu 37 9 95009669 95009669 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:95009669G>T ENST00000375643.3 - 26 3047 c.2781C>A c.(2779-2781)ttC>ttA p.F927L IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.F927L NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 927 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CAGTCTTCTGGAACTGCTCCA 0.483000 24 53 2.24059e-21 3.42449e-21 0.006320 1 0 TRIM39 56658 broad.mit.edu 37 6 30297275 30297275 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:30297275G>A ENST00000376659.5 + 3 779 c.181G>A c.(181-183)Gag>Aag p.E61K TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GGAGGACCTAGAGAGGGACTT 0.542000 48 83 0 0 0.003610 0 0 OR4A47 403253 broad.mit.edu 37 11 48511249 48511249 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:48511249G>T ENST00000446524.1 + 1 981 c.905G>T c.(904-906)aGa>aTa p.R302I NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 CTCTGGAGAAGAGACCTCATA 0.413000 28 50 1.77063e-15 2.52947e-15 0.005443 1 0 KANSL1L 151050 broad.mit.edu 37 2 210893657 210893657 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:210893657A>C ENST00000281772.9 - 11 2571 c.2308T>G c.(2308-2310)Tat>Gat p.Y770D KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 770 TCTATGTCATAAGAGCTCTCA 0.368000 45 65 0 0 0.003214 0 0 MYO18B 84700 broad.mit.edu 37 22 26242186 26242186 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr22:26242186C>A ENST00000335473.7 + 19 3738 c.3488C>A c.(3487-3489)aCc>aAc p.T1163N MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1163 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGAGGAGGACCTTTGCCAGC 0.667000 27 36 1.04121e-07 1.33002e-07 0.005443 1 0 TNS1 7145 broad.mit.edu 37 2 218751275 218751275 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:218751275T>A ENST00000171887.4 - 11 1038 c.586A>T c.(586-588)Aac>Tac p.N196Y TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y|TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 196 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GACTCAAAGTTGGGGATGCCG 0.522000 OREG0015188 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 5 0 0 0.003163 0 0 CPS1 1373 broad.mit.edu 37 2 211473158 211473158 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:211473158G>A ENST00000233072.5 + 19 2462 c.2266G>A c.(2266-2268)Ggg>Agg p.G756R CPS1_ENST00000451903.2_Missense_Mutation_p.G305R|CPS1_ENST00000430249.2_Missense_Mutation_p.G762R NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 756 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CGTCGTATCCGGGAAGACATC 0.433000 76 85 0 0 0.003610 0 0 AKAP13 11214 broad.mit.edu 37 15 86124699 86124699 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:86124699G>A ENST00000394518.2 + 7 3495 c.3400G>A c.(3400-3402)Gtg>Atg p.V1134M AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1134 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AGGTTTGCCAGTGGCTCTACA 0.507000 64 19 0 0 0.003610 0 0 PABPC4 8761 broad.mit.edu 37 1 40030930 40030930 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:40030930C>A ENST00000372857.3 - 8 1885 c.1093G>T c.(1093-1095)Gtt>Ttt p.V365F PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 365 RRM 4. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCCAGGGCAACATATAGTGGC 0.507000 30 17 8.4185e-14 1.16924e-13 0.002445 1 0 ZDBF2 57683 broad.mit.edu 37 2 207170044 207170044 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:207170044G>C ENST00000374423.3 + 5 1178 c.792G>C c.(790-792)atG>atC p.M264I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 264 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CTTTACGCATGAATTCAGATA 0.388000 30 25 0 0 0.008361 0 0 UBBP4 23666 broad.mit.edu 37 17 21731491 21731491 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:21731491C>A ENST00000578713.1 + 2 570 c.566C>A c.(565-567)cCc>cAc p.P189H UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GAAGGCATCCCCCCCGATCAG 0.537000 21 37 2.37509e-13 3.2857e-13 0.001523 1 0 HSF2BP 11077 broad.mit.edu 37 21 45076541 45076541 + Silent SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:45076541T>A ENST00000291560.2 - 3 445 c.114A>T c.(112-114)atA>atT p.I38I HSF2BP_ENST00000542962.1_Intron NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 38 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) AGAAGTCCCGTATTTGCATCA 0.393000 39 51 0 0 0.006999 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847532 88847532 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:88847532G>T ENST00000333190.4 + 2 781 c.172G>T c.(172-174)Gaa>Taa p.E58* NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 58 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTTTTACTGTGAATTATGTGA 0.368000 HNSCC(36;0.09) 26 29 1.1804e-14 1.67263e-14 0.003954 1 0 CCDC132 55610 broad.mit.edu 37 7 92887685 92887685 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:92887685G>T ENST00000544910.1 + 9 687 c.467G>T c.(466-468)cGg>cTg p.R156L CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 186 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACAGATGTACGGTTAAGTGAA 0.299000 20 52 3.5997e-14 5.05982e-14 0.002299 1 0 OR52L1 338751 broad.mit.edu 37 11 6007529 6007529 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:6007529G>T ENST00000332249.4 - 1 686 c.632C>A c.(631-633)aCa>aAa p.T211K NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGATTGACTGTGGTTTCTGA 0.493000 55 99 5.22555e-25 8.12864e-25 0.003610 1 0 GRIA4 2893 broad.mit.edu 37 11 105789531 105789531 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:105789531G>C ENST00000393127.2 + 11 1809 c.1363G>C c.(1363-1365)Gca>Cca p.A455P GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 455 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATCTGAAATTGCAAAACATAT 0.353000 13 5 0 0 0.001368 0 0 PDE10A 10846 broad.mit.edu 37 6 165957010 165957010 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:165957010C>A ENST00000366882.1 - 3 238 c.84G>T c.(82-84)caG>caT p.Q28H PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H Q9Y233 PDE10_HUMAN phosphodiesterase 10A 28 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.Q28fs*5(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CATCTAATACCTGGGGGTGAA 0.358000 18 28 5.03518e-11 6.72639e-11 0.007413 1 0 THRA 7067 broad.mit.edu 37 17 38249328 38249328 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:38249328C>A ENST00000264637.4 + 10 1746 c.1166C>A c.(1165-1167)cCg>cAg p.P389Q THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|NR1D1_ENST00000246672.3_3'UTR NM_003250.5 NP_003241.2 P10827 THA_HUMAN thyroid hormone receptor, alpha 389 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GAAGGCCGGCCGGGCGGGTCA 0.552000 31 57 4.4194e-11 5.9264e-11 0.002836 1 0 ZNF878 729747 broad.mit.edu 37 19 12155285 12155285 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:12155285A>G ENST00000602107.1 - 5 1071 c.1072T>C c.(1072-1074)Tat>Cat p.Y358H CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TTACACTCATAGGGTTTCTCT 0.403000 33 74 0 0 0.002445 0 0 IGLJ2 28832 broad.mit.edu 37 22 23241819 23241819 + RNA SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr22:23241819C>A ENST00000390322.2 + 0 159 GCGGAGGGACCAAGCTGACCG 0.542000 39 45 6.1244e-12 8.27622e-12 0.007835 1 0 ALG13 79868 broad.mit.edu 37 X 110924494 110924494 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:110924494C>T ENST00000394780.3 + 1 60 c.48C>T c.(46-48)ctC>ctT p.L16L ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 16 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TTGACGACCTCATTGCGTGTG 0.632000 123 30 0 0 0.003610 0 0 BIRC6 57448 broad.mit.edu 37 2 32728276 32728276 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:32728276G>A ENST00000421745.2 + 49 9606 c.9472G>A c.(9472-9474)Gaa>Aaa p.E3158K NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3158 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) TGACAATGCTGAAGGGATTCA 0.338000 7 17 0 0 0.004482 0 0 RECQL5 9400 broad.mit.edu 37 17 73657115 73657115 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:73657115C>G ENST00000420326.2 - 6 1065 c.906G>C c.(904-906)caG>caC p.Q302H RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 302 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TCCAGTCGTTCTGCACCAGCG 0.512000 Other identified genes with known or suspected DNA repair function 14 110 0 0 0.001855 0 0 PANK3 79646 broad.mit.edu 37 5 168006280 168006280 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:168006280G>A ENST00000239231.6 - 1 325 c.9C>T c.(7-9)atC>atT p.I3I NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 3 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TGGCATCTTTGATCTTCATGG 0.706000 6 9 0 0 0.001984 0 0 OR5M1 390168 broad.mit.edu 37 11 56380788 56380788 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:56380788C>T ENST00000526538.1 - 1 190 c.191G>A c.(190-192)gGc>gAc p.G64D NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GGAGAGGTGGCCAAGGAAGAA 0.468000 44 80 0 0 0.002852 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751081 140751081 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140751081C>A ENST00000576222.1 + 1 1251 c.1120C>A c.(1120-1122)Cta>Ata p.L374I PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACATGATCTAGATTCTGG 0.423000 7 24 0.00198382 0.00236975 0.001984 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110476802 110476802 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:110476802C>A ENST00000378402.5 + 49 7845 c.7741C>A c.(7741-7743)Cac>Aac p.H2581N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2581 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGTGGCACTCACTTTGGCTT 0.463000 HNSCC(38;0.096) 24 35 2.21704e-12 3.0311e-12 0.002780 1 0 KRI1 65095 broad.mit.edu 37 19 10665770 10665770 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:10665770G>C ENST00000312962.6 - 18 1811 c.1792C>G c.(1792-1794)Cga>Gga p.R598G KRI1_ENST00000361821.5_Missense_Mutation_p.R594G NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 598 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) tactcttctCGGCAGAGTGAC 0.592000 25 39 0 0 0.003330 0 0 TIAM1 7074 broad.mit.edu 37 21 32554912 32554912 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:32554912C>T ENST00000286827.3 - 16 3184 c.2713G>A c.(2713-2715)Gcc>Acc p.A905T TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 905 PDZ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GAGTTCAGGGCGTCAGCAGCA 0.498000 5 63 0 0 0.000602 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711512 155711512 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:155711512A>G ENST00000295101.2 + 3 1670 c.1193A>G c.(1192-1194)aAa>aGa p.K398R KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 398 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ATTACTACAAAACTACCATCT 0.388000 64 98 0 0 0.003610 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65194605 65194605 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:65194605C>T ENST00000247226.7 + 2 564 c.256C>T c.(256-258)Cct>Tct p.P86S PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 86 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGCGGCAGGGCCTGCACACCA 0.637000 8 4 0 0 0.003080 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432909 73432909 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:73432909C>A ENST00000263666.4 - 10 2922 c.2808G>T c.(2806-2808)agG>agT p.R936S PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 936 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCCGCACGGGCCTCTTGGTGA 0.667000 19 13 3.99206e-14 5.56661e-14 0.007413 1 0 ARHGAP30 257106 broad.mit.edu 37 1 161022564 161022564 + Nonsense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:161022564G>A ENST00000368013.3 - 7 1008 c.688C>T c.(688-690)Cga>Tga p.R230* ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230* NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 230 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGAAGCGATCGCCACCCACTC 0.607000 27 39 0 0 0.006320 0 0 STK10 6793 broad.mit.edu 37 5 171488156 171488156 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:171488156C>A ENST00000176763.5 - 14 2542 c.2199G>T c.(2197-2199)caG>caT p.Q733H NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 733 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAAGGAGCTCCTGCTTCTTCA 0.617000 71 140 9.12251e-31 1.46462e-30 0.003610 1 0 ERV3-1 2086 broad.mit.edu 37 7 64452342 64452342 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:64452342C>A ENST00000394323.2 - 2 1563 c.1063G>T c.(1063-1065)Gac>Tac p.D355Y NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 355 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 cctactgggtctgtaaaggcc 0.433000 13 31 3.03607e-14 4.28478e-14 0.001368 1 0 CEP72 55722 broad.mit.edu 37 5 637653 637653 + Missense_Mutation SNP C C T rs143077618 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:637653C>T ENST00000264935.5 + 7 1016 c.926C>T c.(925-927)tCg>tTg p.S309L CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 309 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) ACCGAGGACTCGGCCTCTTCT 0.527000 28 50 0 0 0.007291 0 0 ATP2C1 27032 broad.mit.edu 37 3 130698095 130698095 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:130698095C>T ENST00000510168.1 + 19 2123 c.1573C>T c.(1573-1575)Ctt>Ttt p.L525F ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 525 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTCCTAAGTTCTTGCTTTGGC 0.373000 Hailey-Hailey disease 8 164 0 0 0.003080 0 0 MYH4 4622 broad.mit.edu 37 17 10351339 10351339 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:10351339G>A ENST00000255381.2 - 34 4871 c.4761C>T c.(4759-4761)ctC>ctT p.L1587L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1587 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTAGCTGATCGAGTTCTTCAT 0.418000 6 155 0 0 0.003080 0 0 ZNF716 441234 broad.mit.edu 37 7 57529071 57529071 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:57529071G>T ENST00000420713.1 + 4 1016 c.904G>T c.(904-906)Ggc>Tgc p.G302C NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TGAAGAATGTGGCAAAGCCTT 0.418000 8 16 0.00307968 0.00365386 0.003080 1 0 DMD 1756 broad.mit.edu 37 X 32328320 32328320 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:32328320G>A ENST00000357033.4 - 42 6202 c.5996C>T c.(5995-5997)aCt>aTt p.T1999I DMD_ENST00000378677.2_Missense_Mutation_p.T1995I NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1999 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGTCAAATAAGTAGAAGGCAC 0.393000 21 7 0 0 0.001523 0 0 OR4C46 119749 broad.mit.edu 37 11 51515722 51515722 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:51515722G>T ENST00000328188.1 + 1 441 c.441G>T c.(439-441)tgG>tgT p.W147C NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAGTGGTGTGGATGGGAGGCT 0.463000 75 119 1.15098e-32 1.87368e-32 0.003610 1 0 PRELP 5549 broad.mit.edu 37 1 203452824 203452824 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:203452824G>A ENST00000343110.2 + 2 639 c.512G>A c.(511-513)cGg>cAg p.R171Q NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 171 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) GCCCTGCCCCGGAACCTGGAG 0.597000 5 149 0 0 0.001984 0 0 THEMIS 387357 broad.mit.edu 37 6 128222065 128222065 + Translation_Start_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:128222065G>T ENST00000368250.1 - 0 274 THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M Q8N1K5 THMS1_HUMAN thymocyte selection associated negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AATTCTTCCAGTGATAATGCC 0.498000 51 69 9.57592e-29 1.52344e-28 0.003610 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140797510 140797510 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140797510G>T ENST00000398594.2 + 1 84 c.84G>T c.(82-84)acG>acT p.T28T PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACCCCACGCTGTGTGAGC 0.632000 OREG0016863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 23 5.50884e-06 6.78906e-06 0.001368 1 0 BAAT 570 broad.mit.edu 37 9 104133542 104133542 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:104133542G>A ENST00000259407.2 - 2 253 c.145C>T c.(145-147)Cac>Tac p.H49Y BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 49 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GCCCTATAGTGGGCTTGAGAA 0.488000 33 68 0 0 0.002096 0 0 ANO5 203859 broad.mit.edu 37 11 22301128 22301128 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:22301128G>T ENST00000324559.8 + 22 2876 c.2559G>T c.(2557-2559)atG>atT p.M853I NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 853 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGCCTGGATGATACCTGATG 0.358000 17 37 0.00074312 0.000890726 0.006122 1 0 DUSP12 11266 broad.mit.edu 37 1 161719654 161719654 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:161719654C>T ENST00000367943.4 + 1 95 c.63C>T c.(61-63)gtC>gtT p.V21V DUSP12_ENST00000484291.1_3'UTR NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 21 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CCAGCAGAGTCAGCTGTGCCG 0.672000 4 16 0 0 0.000248 0 0 CACNA1E 777 broad.mit.edu 37 1 181680164 181680164 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:181680164A>G ENST00000526775.1 + 8 1295 c.1130A>G c.(1129-1131)gAg>gGg p.E377G CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 377 Binding to the beta subunit (By similarity). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAGCAGATTGAGCGTGAGCTG 0.577000 39 98 0 0 0.007835 0 0 KIDINS220 57498 broad.mit.edu 37 2 8936972 8936972 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:8936972T>C ENST00000256707.3 - 11 1208 c.1027A>G c.(1027-1029)Acc>Gcc p.T343A KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 343 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCATCTTGGTAGCCTTTATA 0.418000 64 121 0 0 0.003610 0 0 WNT8B 7479 broad.mit.edu 37 10 102241771 102241771 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:102241771G>A ENST00000343737.5 + 5 598 c.470G>A c.(469-471)cGg>cAg p.R157Q NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 157 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) CAGGATGCACGGGCAGCCATG 0.592000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 48 0 0 0.004656 0 0 PRB2 653247 broad.mit.edu 37 12 11546873 11546873 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:11546873G>T ENST00000389362.4 - 3 174 c.139C>A c.(139-141)Cct>Act p.P47T PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGACCTTGAGGTTTGTTGCCT 0.537000 144 181 2.60356e-62 4.36003e-62 0.003610 1 0 RPS6KB1 6198 broad.mit.edu 37 17 58024140 58024140 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:58024140G>C ENST00000225577.4 + 15 1590 c.1569G>C c.(1567-1569)atG>atC p.M523I RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 523 Autoinhibitory domain. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) ACCTGCGTATGAATCTATGAC 0.463000 31 45 0 0 0.003271 0 0 FMN2 56776 broad.mit.edu 37 1 240370643 240370643 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:240370643C>T ENST00000319653.9 + 5 2761 c.2531C>T c.(2530-2532)tCt>tTt p.S844F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 844 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACGAACACTCTGTTTCCTCT 0.562000 73 68 0 0 0.003610 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 152 0 0 0.001984 0 0 OR4X2 119764 broad.mit.edu 37 11 48267430 48267430 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:48267430A>G ENST00000302329.3 + 1 823 c.775A>G c.(775-777)Ata>Gta p.I259V NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CACTCTGCCCATAGACAAGAT 0.512000 26 32 0 0 0.003330 0 0 IRF8 3394 broad.mit.edu 37 16 85946795 85946795 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:85946795G>T ENST00000268638.5 + 5 928 c.506G>T c.(505-507)tGt>tTt p.C169F NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 169 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CCGGAGGCCTGTCGGAGTCAG 0.617000 48 88 6.17242e-35 1.00951e-34 0.003610 1 0 CYFIP1 23191 broad.mit.edu 37 15 22956494 22956494 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:22956494G>C ENST00000313077.7 + 16 1856 c.1731G>C c.(1729-1731)aaG>aaC p.K577N CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 577 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GTGGTTCCAAGAAAACCTTGA 0.408000 32 15 0 0 0.001786 0 0 ANKRD50 57182 broad.mit.edu 37 4 125600031 125600031 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:125600031T>G ENST00000504087.1 - 3 1579 c.542A>C c.(541-543)aAg>aCg p.K181T ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 181 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CTGGGGAGGCTTCATTCCCAG 0.398000 3 99 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139165165 139165165 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:139165165C>A ENST00000395297.1 - 13 1723 c.1553G>T c.(1552-1554)tGt>tTt p.C518F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 518 p.C518F(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCCAGTCCAACATTCATCTTC 0.463000 HNSCC(54;0.14) 41 165 2.24893e-16 3.25259e-16 0.002222 1 0 NPY4R 5540 broad.mit.edu 37 10 47087602 47087602 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:47087602C>A ENST00000374312.1 + 3 1238 c.819C>A c.(817-819)gcC>gcA p.A273A NPY4R_ENST00000395716.1_Silent_p.A273A NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TGGTGGTGGCCTTTGCTGTGC 0.587000 20 87 3.99206e-14 5.56661e-14 0.007413 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253706 32253706 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:32253706G>T ENST00000332378.4 - 1 168 c.138C>A c.(136-138)ttC>ttA p.F46L NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 46 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 AGCCAGTCTGGAAGGAACTGG 0.582000 24 39 6.21321e-17 9.02334e-17 0.002780 1 0 CAPN6 827 broad.mit.edu 37 X 110491846 110491846 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:110491846T>G ENST00000324068.1 - 10 1602 c.1435A>C c.(1435-1437)Acc>Ccc p.T479P CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 479 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AACTCGCTGGTGCGACCATGC 0.502000 15 4 0 0 0.004007 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754408 139754408 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:139754408G>A ENST00000445819.1 + 28 3551 c.3501G>A c.(3499-3501)gtG>gtA p.V1167V MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.V1088V Q6UXC1 AEGP_HUMAN MAM domain containing 4 1167 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGCTCCTGGTGCTGCTGGGAC 0.627000 24 29 0 0 0.003954 0 0 FUK 197258 broad.mit.edu 37 16 70499039 70499039 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:70499039C>T ENST00000288078.6 + 4 477 c.245C>T c.(244-246)tCc>tTc p.S82F FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 82 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GTGGTCACATCCGATGTCCTG 0.572000 11 14 0 0 0.001855 0 0 NPY5R 4889 broad.mit.edu 37 4 164272687 164272687 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:164272687A>G ENST00000515560.1 + 4 2784 c.1262A>G c.(1261-1263)aAt>aGt p.N421S NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 421 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGTTGTCTTAATCCAATTCTA 0.328000 45 20 0 0 0.003610 0 0 CPQ 10404 broad.mit.edu 37 8 97978226 97978226 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:97978226G>A ENST00000220763.5 + 5 1123 c.913G>A c.(913-915)Ggt>Agt p.G305S NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 305 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GGATGATGGCGGTGGAGCCTT 0.378000 3 56 0 0 0.000602 0 0 PKD2L1 9033 broad.mit.edu 37 10 102050202 102050202 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:102050202C>A ENST00000318222.3 - 13 2464 c.2082G>T c.(2080-2082)gaG>gaT p.E694D PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 694 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTCTGGCAGCCTCTGGACCCG 0.527000 8 23 0.000157383 0.000189945 0.003080 1 0 DCHS1 8642 broad.mit.edu 37 11 6643935 6643935 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:6643935C>T ENST00000299441.3 - 21 9383 c.8972G>A c.(8971-8973)cGg>cAg p.R2991Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2991 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTGGCTCCCGGCCCAGTTT 0.642000 5 5 0 0 0.000602 0 0 GALNTL5 168391 broad.mit.edu 37 7 151699803 151699803 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:151699803T>A ENST00000392800.2 + 6 917 c.663T>A c.(661-663)gaT>gaA p.D221E GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E|GALNTL5_ENST00000483959.1_3'UTR NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 221 Catalytic subdomain A. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCCCAGGGGATGTTCTGGTGT 0.498000 25 12 0 0 0.002780 0 0 PLXNA1 5361 broad.mit.edu 37 3 126736700 126736700 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:126736700G>A ENST00000251772.4 + 18 3625 c.3556G>A c.(3556-3558)Gag>Aag p.E1186K PLXNA1_ENST00000393409.2_Missense_Mutation_p.E1209K Q9UIW2 PLXA1_HUMAN plexin A1 1209 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACTGCTGTGCGAGGCGCCCAA 0.662000 22 71 0 0 0.002780 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955542 12955542 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:12955542A>C ENST00000235347.4 - 2 216 c.137T>G c.(136-138)aTg>aGg p.M46R NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 46 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAACGTCTCATGCTGAAGGC 0.572000 33 21 0 0 0.002852 0 0 PGM5 5239 broad.mit.edu 37 9 71098829 71098829 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:71098829G>T ENST00000396396.1 + 9 1573 c.1344G>T c.(1342-1344)agG>agT p.R448S NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 448 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ATATCATGAGGGACCTGGAGG 0.507000 29 57 7.38237e-10 9.67726e-10 0.006320 1 0 ENPP3 5169 broad.mit.edu 37 6 132061454 132061454 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:132061454C>T ENST00000414305.1 + 25 2719 c.2391C>T c.(2389-2391)tgC>tgT p.C797C ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 797 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CGGAAAACTGCCCTGGGTGGC 0.512000 31 50 0 0 0.002096 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718609 140718609 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140718609G>T ENST00000394576.2 + 1 71 c.71G>T c.(70-72)tGg>tTg p.W24L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGACCCTGTGGGAGGCCAGG 0.577000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 42 1.67942e-08 2.16101e-08 0.006122 1 0 CMTM1 113540 broad.mit.edu 37 16 66603837 66603837 + Splice_Site SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:66603837A>T ENST00000379500.2 + 2 499 c.e2-1 CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000328020.6_Splice_Site|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000457188.2_Splice_Site NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTTTTATTGCAGAGTCTTATC 0.323000 31 57 0 0 0.001786 0 0 ZNF112 7665 broad.mit.edu 37 19 44832694 44832694 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:44832694C>G ENST00000354340.4 - 4 1667 c.1616G>C c.(1615-1617)aGa>aCa p.R539T ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T|ZNF112_ENST00000337401.4_Missense_Mutation_p.R545T NM_013380.3 NP_037512.3 zinc finger protein 112 TGTGTGGACTCTCTGATGAAC 0.423000 61 101 0 0 0.003610 0 0 WBSCR17 64409 broad.mit.edu 37 7 71142291 71142291 + Splice_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:71142291G>T ENST00000333538.5 + 9 2134 c.1500_splice c.e9+1 p.Q500_splice WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 500 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGGACCACAGGTAGGAGCTC 0.537000 61 111 1.03172e-35 1.69532e-35 0.003610 1 0 LAMA1 284217 broad.mit.edu 37 18 7079974 7079974 + Splice_Site SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:7079974C>G ENST00000389658.3 - 3 438 c.345_splice c.e3+1 p.Q115_splice RP11-76K13.3_ENST00000581502.1_RNA NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 115 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCACCTACCTGTCTTAAGT 0.468000 9 59 0 0 0.004482 0 0 ABCD2 225 broad.mit.edu 37 12 39947723 39947723 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:39947723C>G ENST00000308666.3 - 10 2349 c.2214G>C c.(2212-2214)gaG>gaC p.E738D NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 738 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 ATTAAGATGTCTCATCTTCAT 0.323000 4 7 0 0 0.000248 0 0 NPAP1 23742 broad.mit.edu 37 15 24923926 24923926 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:24923926C>G ENST00000329468.2 + 1 3386 c.2912C>G c.(2911-2913)gCt>gGt p.A971G NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AATGCAAGTGCTTTCCCCAAT 0.483000 28 16 0 0 0.005443 0 0 RYR2 6262 broad.mit.edu 37 1 237660034 237660034 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:237660034G>C ENST00000366574.2 + 20 2502 c.2185G>C c.(2185-2187)Ggc>Cgc p.G729R RYR2_ENST00000542537.1_Missense_Mutation_p.G713R|RYR2_ENST00000360064.6_Missense_Mutation_p.G727R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 729 B30.2/SPRY 1. 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) TGGATTTGATGGCCTTCATCT 0.493000 65 188 0 0 0.003610 0 0 LUM 4060 broad.mit.edu 37 12 91502199 91502199 + Silent SNP G G C rs144214151 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:91502199G>C ENST00000266718.4 - 2 1012 c.558C>G c.(556-558)ctC>ctG p.L186L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 186 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CAAGGTATTCGAGTGATTTAA 0.433000 40 12 0 0 0.006230 0 0 INHBA 3624 broad.mit.edu 37 7 41739824 41739824 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:41739824G>T ENST00000242208.4 - 2 395 c.149C>A c.(148-150)tCt>tAt p.S50Y INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 50 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.S50Y(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTCTGGCTGAGAGTTGGGTAC 0.612000 TSP Lung(11;0.080) 187 256 7.59282e-81 1.26672e-80 0.014410 1 0 CCDC181 57821 broad.mit.edu 37 1 169390813 169390813 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:169390813C>T ENST00000545005.1 - 4 1363 c.856G>A c.(856-858)Gag>Aag p.E286K CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.E286K coiled-coil domain containing 181 GCCAGCGGCTCTCCTGTTGAT 0.473000 53 142 0 0 0.014410 0 0 ROS1 6098 broad.mit.edu 37 6 117683782 117683782 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:117683782C>A ENST00000368508.3 - 21 3563 c.3365G>T c.(3364-3366)tGc>tTc p.C1122F GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1122 Fibronectin type-III 5. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGCAATAAAGCATCTGGGACT 0.408000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 12 26 0.00010058 0.000120197 0.013537 1 0 WDR96 80217 broad.mit.edu 37 10 105893540 105893540 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:105893540A>G ENST00000357060.3 - 35 4549 c.4434T>C c.(4432-4434)acT>acC p.T1478T WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.T1450T NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1478 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTTGTCCTTGAGTCTTTAAAA 0.318000 15 31 0 0 0.004007 0 0 ZIM3 114026 broad.mit.edu 37 19 57646307 57646307 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:57646307C>T ENST00000269834.1 - 5 1783 c.1398G>A c.(1396-1398)caG>caA p.Q466Q NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAATTCTTTTCTGGTGCCTAA 0.428000 49 70 0 0 0.014410 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 20 0 0 0.001168 0 0 NUP210L 91181 broad.mit.edu 37 1 154034118 154034118 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:154034118C>T ENST00000368559.3 - 18 2658 c.2587G>A c.(2587-2589)Ggg>Agg p.G863R NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 863 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGTACAGTCCCTTTTATCTGA 0.338000 27 53 0 0 0.013726 0 0 ALG13 79868 broad.mit.edu 37 X 110924494 110924494 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:110924494C>T ENST00000394780.3 + 1 60 c.48C>T c.(46-48)ctC>ctT p.L16L ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 16 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TTGACGACCTCATTGCGTGTG 0.632000 123 30 0 0 0.014410 0 0 FREM2 341640 broad.mit.edu 37 13 39446956 39446956 + Silent SNP G G T rs147947821 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr13:39446956G>T ENST00000280481.7 + 17 8277 c.8061G>T c.(8059-8061)ggG>ggT p.G2687G NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2687 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCCCCGTGGGGGTAGGAGGCT 0.488000 40 64 9.8876e-21 1.49422e-20 0.004878 1 0 PEAK1 79834 broad.mit.edu 37 15 77474169 77474169 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:77474169C>T ENST00000560626.2 - 4 575 c.100G>A c.(100-102)Gag>Aag p.E34K PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 34 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGTGCCTTCTCAGGGTCTGGG 0.468000 8 182 0 0 0.008291 0 0 PCLO 27445 broad.mit.edu 37 7 82582174 82582174 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:82582174G>T ENST00000423517.2 - 5 8432 c.8095C>A c.(8095-8097)Cct>Act p.P2699T PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2630 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTCTGGAGGAATTGTTATG 0.403000 18 47 3.32936e-07 4.12498e-07 0.006122 1 0 PLXNA1 5361 broad.mit.edu 37 3 126736700 126736700 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:126736700G>A ENST00000393409.2 + 18 3625 c.3625G>A c.(3625-3627)Gag>Aag p.E1209K PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1186K NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1209 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACTGCTGTGCGAGGCGCCCAA 0.662000 22 71 0 0 0.002780 0 0 FAM135B 51059 broad.mit.edu 37 8 139151251 139151251 + Silent SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:139151251G>C ENST00000395297.1 - 18 4049 c.3879C>G c.(3877-3879)ctC>ctG p.L1293L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1293 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTAGTTGGTAGAGGAAACATT 0.448000 HNSCC(54;0.14) 12 127 0 0 0.013537 0 0 BIRC6 57448 broad.mit.edu 37 2 32728276 32728276 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:32728276G>A ENST00000421745.2 + 49 9606 c.9472G>A c.(9472-9474)Gaa>Aaa p.E3158K NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3158 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) TGACAATGCTGAAGGGATTCA 0.338000 7 17 0 0 0.004482 0 0 STIL 6491 broad.mit.edu 37 1 47717390 47717390 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:47717390G>A ENST00000360380.3 - 18 3645 c.3282C>T c.(3280-3282)agC>agT p.S1094S STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S|STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000371877.3_Silent_p.S1095S Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1094 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TATGGAGAAGGCTGAATGGGT 0.373000 69 42 0 0 0.014410 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139424 90139424 + RNA SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:90139424C>A ENST00000492446.1 + 0 222 CAGAGAAAGCCCCTAAGTCCC 0.522000 103 218 3.52173e-36 5.78937e-36 0.014410 1 0 TCEANC2 127428 broad.mit.edu 37 1 54562036 54562036 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:54562036C>T ENST00000234827.1 + 5 717 c.517C>T c.(517-519)Cgg>Tgg p.R173W TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 173 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 GCCGTACCGGCGGACGGTGAG 0.512000 38 20 0 0 0.004878 0 0 BAAT 570 broad.mit.edu 37 9 104133542 104133542 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:104133542G>A ENST00000259407.2 - 2 253 c.145C>T c.(145-147)Cac>Tac p.H49Y BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 49 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GCCCTATAGTGGGCTTGAGAA 0.488000 33 68 0 0 0.010818 0 0 ZNF521 25925 broad.mit.edu 37 18 22804737 22804737 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr18:22804737C>A ENST00000361524.3 - 4 3293 c.3145G>T c.(3145-3147)Ggg>Tgg p.G1049W ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1049 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ACTGCAGACCCATTCCCTGTC 0.522000 T PAX5 ALL 19 20 8.00594e-06 9.70504e-06 0.007413 1 0 NSMF 26012 broad.mit.edu 37 9 140346851 140346851 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:140346851C>G ENST00000371475.3 - 12 1433 c.1202G>C c.(1201-1203)gGa>gCa p.G401A NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000437259.1_Missense_Mutation_p.G378A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000484316.1_5'UTR NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor GATCTTGGCTCCCTTGTGGTA 0.617000 59 121 0 0 0.014410 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651373 15651373 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:15651373C>T ENST00000269703.2 + 8 983 c.784C>T c.(784-786)Cgg>Tgg p.R262W CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 262 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GGCGGATGGGCGGAGGTTCCG 0.607000 29 90 0 0 0.007291 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221511 10221511 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:10221511C>T ENST00000428358.1 + 11 1342 c.1170C>T c.(1168-1170)ttC>ttT p.F390F PPAN_ENST00000393793.1_Silent_p.F337F|PPAN_ENST00000253107.7_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000556468.1_Silent_p.F390F NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 390 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TCGAGTATTTCTGCCAGGCGG 0.607000 67 140 0 0 0.014410 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913203 143913203 + Silent SNP T T C rs146989390 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:143913203T>C ENST00000409869.1 + 3 321 c.144T>C c.(142-144)gaT>gaC p.D48D ARHGAP15_ENST00000295095.6_Silent_p.D48D Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 48 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCCTCACCGATGTCGGGAAGG 0.423000 26 23 0 0 0.007291 0 0 CCDC132 55610 broad.mit.edu 37 7 92887685 92887685 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:92887685G>T ENST00000544910.1 + 9 687 c.467G>T c.(466-468)cGg>cTg p.R156L CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 186 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACAGATGTACGGTTAAGTGAA 0.299000 20 52 3.5997e-14 4.99218e-14 0.014323 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140797510 140797510 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:140797510G>T ENST00000398594.2 + 1 84 c.84G>T c.(82-84)acG>acT p.T28T PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACCCCACGCTGTGTGAGC 0.632000 OREG0016863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 23 5.50884e-06 6.70209e-06 0.013537 1 0 CSMD3 114788 broad.mit.edu 37 8 113246662 113246662 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:113246662G>T ENST00000297405.5 - 68 10916 c.10672C>A c.(10672-10674)Ctt>Att p.L3558I CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3558 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTTTAATAAGATATATGCGT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 50 95 1.4374e-25 2.23227e-25 0.014410 1 0 RYR2 6262 broad.mit.edu 37 1 237865319 237865319 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:237865319T>A ENST00000366574.2 + 66 9726 c.9409T>A c.(9409-9411)Tta>Ata p.L3137I RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I|RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3137 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) TCTGACTAGCTTATATGCTTT 0.328000 32 16 0 0 0.004289 0 0 MBTPS2 51360 broad.mit.edu 37 X 21869684 21869684 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:21869684A>T ENST00000365779.2 + 4 577 c.496A>T c.(496-498)Att>Ttt p.I166F MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F|MBTPS2_ENST00000465888.1_3'UTR O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 166 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 GGCAGTTCTCATTAGTGGTGT 0.373000 5 78 0 0 0.001168 0 0 NPY4R 5540 broad.mit.edu 37 10 47087602 47087602 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:47087602C>A ENST00000374312.1 + 3 1238 c.819C>A c.(817-819)gcC>gcA p.A273A NPY4R_ENST00000395716.1_Silent_p.A273A NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TGGTGGTGGCCTTTGCTGTGC 0.587000 20 87 3.99206e-14 5.49112e-14 0.007413 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113511 55113511 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:55113511G>T ENST00000370862.3 + 2 634 c.298G>T c.(298-300)Gat>Tat p.D100Y NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 100 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTCTGGCTGATGTGCTCGT 0.453000 56 102 6.4308e-24 9.8958e-24 0.014410 1 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 79 0 0 0.000602 0 0 HNF1A 6927 broad.mit.edu 37 12 121438953 121438953 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:121438953C>A ENST00000257555.6 + 10 2080 c.1854C>A c.(1852-1854)atC>atA p.I618I RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Silent_p.I649I|HNF1A_ENST00000544413.1_Silent_p.I625I P20823 HNF1A_HUMAN HNF1 homeobox A 618 I -> M (in MODY3). glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACAGCGTCATCGAGACCTTCA 0.617000 Hepatic Adenoma, Familial Clustering of 10 5 1.58986e-06 1.94831e-06 0.008291 1 0 DOCK3 1795 broad.mit.edu 37 3 51400017 51400017 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:51400017G>A ENST00000266037.9 + 49 5228 c.5205G>A c.(5203-5205)tcG>tcA p.S1735S NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1735 Ser-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTCTGTCCTCGTCCCAGGCAA 0.557000 32 18 0 0 0.010818 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751081 140751081 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:140751081C>A ENST00000576222.1 + 1 1251 c.1120C>A c.(1120-1122)Cta>Ata p.L374I PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACATGATCTAGATTCTGG 0.423000 7 24 0.00198382 0.00233758 0.001984 1 0 APC 324 broad.mit.edu 37 5 112151205 112151205 + Missense_Mutation SNP G G A rs149154604 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:112151205G>A ENST00000457016.1 + 9 1228 c.848G>A c.(847-849)cGa>cAa p.R283Q APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q P25054 APC_HUMAN adenomatous polyposis coli 283 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCAACTACACGAATGGACCAT 0.383000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 17 31 0 0 0.008871 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476802 110476802 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:110476802C>A ENST00000378402.5 + 49 7845 c.7741C>A c.(7741-7743)Cac>Aac p.H2581N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2581 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGTGGCACTCACTTTGGCTT 0.463000 HNSCC(38;0.096) 24 35 2.21704e-12 2.98856e-12 0.002780 1 0 TP53 7157 broad.mit.edu 37 17 7577557 7577557 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:7577557A>T ENST00000420246.2 - 7 856 c.724T>A c.(724-726)Tgc>Agc p.C242S TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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) CCGCCCATGCAGGAACTGTTA 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 67 22 0 0 0.014410 0 0 LYZL6 57151 broad.mit.edu 37 17 34266465 34266465 + Translation_Start_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:34266465G>T ENST00000585556.1 - 0 230 LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame O75951 LYZL6_HUMAN lysozyme-like 6 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGGCAGCCAGGTTTCCTTAC 0.448000 8 23 0.00307968 0.00360365 0.003080 1 0 GAA 2548 broad.mit.edu 37 17 78081647 78081647 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:78081647G>A ENST00000302262.3 + 5 1126 c.907G>A c.(907-909)Gac>Aac p.D303N GAA_ENST00000390015.3_Missense_Mutation_p.D303N NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 303 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGCGCTGGAGGACGGCGGGTC 0.687000 3 25 0 0 0.004672 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 46 0 0 0.004672 0 0 IGLJ2 28832 broad.mit.edu 37 22 23241819 23241819 + RNA SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr22:23241819C>A ENST00000390322.2 + 0 159 GCGGAGGGACCAAGCTGACCG 0.542000 39 45 6.1244e-12 8.1578e-12 0.007835 1 0 KRI1 65095 broad.mit.edu 37 19 10665770 10665770 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:10665770G>C ENST00000312962.6 - 18 1811 c.1792C>G c.(1792-1794)Cga>Gga p.R598G KRI1_ENST00000361821.5_Missense_Mutation_p.R594G NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 598 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) tactcttctCGGCAGAGTGAC 0.592000 25 39 0 0 0.003330 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709388 31709388 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr21:31709388C>A ENST00000382835.2 - 1 624 c.599G>T c.(598-600)gGt>gTt p.G200V NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 200 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TTGAGAACCACCAGTAACACA 0.408000 14 29 0.000219431 0.000260382 0.002450 1 0 STK31 56164 broad.mit.edu 37 7 23871841 23871841 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:23871841C>T ENST00000354639.3 + 24 3311 c.2847C>T c.(2845-2847)ttC>ttT p.F949F STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000355870.3_Silent_p.F972F|STK31_ENST00000428484.1_Silent_p.F949F NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 972 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTGAATGTTTCTTGATGCCAA 0.353000 68 60 0 0 0.014410 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711512 155711512 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:155711512A>G ENST00000295101.2 + 3 1670 c.1193A>G c.(1192-1194)aAa>aGa p.K398R KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 398 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ATTACTACAAAACTACCATCT 0.388000 64 98 0 0 0.014410 0 0 KDM6A 7403 broad.mit.edu 37 X 44938390 44938390 + Splice_Site SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:44938390G>C ENST00000377967.4 + 20 2979 c.e20-1 KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TATTCATGAAGACCTGGGACT 0.328000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 11 1 0 0 0.008291 0 0 DNAH5 1767 broad.mit.edu 37 5 13719184 13719184 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:13719184G>T ENST00000265104.4 - 72 12410 c.12306C>A c.(12304-12306)tgC>tgA p.C4102* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4102 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) GTCCCAGATGGCAGTTCTGCA 0.418000 Kartagener syndrome 22 29 1.10513e-12 1.4957e-12 0.014323 1 0 SAFB2 9667 broad.mit.edu 37 19 5598876 5598876 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:5598876C>G ENST00000252542.4 - 13 1974 c.1710G>C c.(1708-1710)cgG>cgC p.R570R NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TCACGACCGTCCGCTCCATTC 0.507000 26 48 0 0 0.008361 0 0 ABT1 29777 broad.mit.edu 37 6 26597372 26597372 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:26597372G>T ENST00000274849.1 + 1 193 c.162G>T c.(160-162)ccG>ccT p.P54P NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 54 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 GCCATATCCCGCCGCGCTTCC 0.612000 16 28 2.32078e-09 2.98513e-09 0.003163 1 0 HAO1 54363 broad.mit.edu 37 20 7895010 7895010 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr20:7895010C>T ENST00000378789.3 - 3 397 c.346G>A c.(346-348)Gaa>Aaa p.E116K NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 116 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GCCACTTCTTCAATTGAGGAG 0.532000 14 36 0 0 0.001855 0 0 DUSP6 1848 broad.mit.edu 37 12 89745444 89745444 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:89745444C>T ENST00000279488.7 - 1 1604 c.373G>A c.(373-375)Gag>Aag p.E125K DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 125 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|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 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CGGCAGCCCTCGTCCTTGAGC 0.687000 6 2 0 0 0.001168 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43626706 43626706 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:43626706T>A ENST00000332857.6 - 4 2009 c.1981A>T c.(1981-1983)Agg>Tgg p.R661W NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CACAGGTCCCTCTCTAGCTGG 0.562000 71 13 0 0 0.014410 0 0 FAM60A 58516 broad.mit.edu 37 12 31435799 31435799 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:31435799C>T ENST00000337682.4 - 6 881 c.513G>A c.(511-513)aaG>aaA p.K171K FAM60A_ENST00000539409.1_Silent_p.K23K|FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 171 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) CACAACATATCTTCTGTCTAA 0.353000 17 29 0 0 0.007413 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784798 140784798 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:140784798C>A ENST00000573521.1 + 1 2279 c.2279C>A c.(2278-2280)aCc>aAc p.T760N PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCCCTCACCGCTGACTCA 0.537000 44 83 1.48734e-19 2.2277e-19 0.013114 1 0 AGL 178 broad.mit.edu 37 1 100327061 100327061 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:100327061T>C ENST00000294724.4 + 3 563 c.85T>C c.(85-87)Tat>Cat p.Y29H AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000361522.4_Missense_Mutation_p.Y12H NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 29 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTATTTAGGGTATGAGCTACA 0.308000 12 9 0 0 0.013537 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65194605 65194605 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr14:65194605C>T ENST00000247226.7 + 2 564 c.256C>T c.(256-258)Cct>Tct p.P86S PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 86 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGCGGCAGGGCCTGCACACCA 0.637000 8 4 0 0 0.003080 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627413 140627413 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:140627413C>A ENST00000231173.3 + 1 2267 c.2267C>A c.(2266-2268)aCg>aAg p.T756K NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 756 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGTGTCTGACGGGAGGCTCT 0.517000 71 120 4.98182e-18 7.29945e-18 0.014410 1 0 TECRL 253017 broad.mit.edu 37 4 65147243 65147243 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr4:65147243G>A ENST00000381210.3 - 10 977 c.867C>T c.(865-867)aaC>aaT p.N289N TECRL_ENST00000507440.1_Silent_p.N289N NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 289 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 ATGTGAAGGGGTTATAATTTG 0.328000 19 7 0 0 0.006122 0 0 RYR3 6263 broad.mit.edu 37 15 33954863 33954863 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:33954863G>C ENST00000389232.4 + 35 5202 c.5132G>C c.(5131-5133)cGa>cCa p.R1711P RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1711 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R1711L(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCCACATCCGAGACCCTGTA 0.562000 23 18 0 0 0.003330 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432909 73432909 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:73432909C>A ENST00000263666.4 - 10 2922 c.2808G>T c.(2806-2808)agG>agT p.R936S PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 936 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCCGCACGGGCCTCTTGGTGA 0.667000 19 13 3.99206e-14 5.49112e-14 0.007413 1 0 OR5M1 390168 broad.mit.edu 37 11 56380788 56380788 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:56380788C>T ENST00000526538.1 - 1 190 c.191G>A c.(190-192)gGc>gAc p.G64D NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GGAGAGGTGGCCAAGGAAGAA 0.468000 44 80 0 0 0.011902 0 0 RABEP2 79874 broad.mit.edu 37 16 28917494 28917494 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:28917494G>A ENST00000358201.4 - 9 1857 c.1269C>T c.(1267-1269)tgC>tgT p.C423C RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 423 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CTTGCCGCGTGCAGCACAGCA 0.716000 7 10 0 0 0.004482 0 0 MUC3A 4584 broad.mit.edu 37 7 100551864 100551864 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:100551864C>G ENST00000319509.7 + 1 615 c.615C>G c.(613-615)ctC>ctG p.L205L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAACTTCACTCACATCTACAA 0.438000 56 515 0 0 0.014410 0 0 LRP5 4041 broad.mit.edu 37 11 68154175 68154175 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:68154175G>A ENST00000294304.7 + 6 1513 c.1407G>A c.(1405-1407)gtG>gtA p.V469V NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 469 Beta-propeller 2. 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 TGCACCCCGTGATGGGGTAAG 0.672000 13 27 0 0 0.003163 0 0 RELT 84957 broad.mit.edu 37 11 73101965 73101965 + Splice_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:73101965G>T ENST00000064780.2 + 4 547 c.287_splice c.e4+1 p.G96_splice RELT_ENST00000393580.2_Splice_Site_p.G96_splice NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 96 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 CTGCTGGCCTGGGTAAGCCAA 0.632000 24 19 1.77063e-15 2.49666e-15 0.005443 1 0 METTL3 56339 broad.mit.edu 37 14 21969087 21969087 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr14:21969087C>T ENST00000298717.4 - 5 1235 c.1084G>A c.(1084-1086)Gat>Aat p.D362N NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 362 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GCACTGGAATCACCTCCGACA 0.507000 12 8 0 0 0.001855 0 0 STK31 56164 broad.mit.edu 37 7 23827673 23827673 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:23827673A>G ENST00000354639.3 + 21 2957 c.2493A>G c.(2491-2493)tcA>tcG p.S831S STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000355870.3_Silent_p.S854S|STK31_ENST00000428484.1_Silent_p.S831S NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 854 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTCATGGATCACTTCATCAGA 0.353000 33 93 0 0 0.013726 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029194 41029194 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:41029194C>A ENST00000244669.2 + 2 303 c.259C>A c.(259-261)Cgg>Agg p.R87R NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 87 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAGGCATCTCGGGGATACCT 0.567000 36 82 4.34311e-12 5.80804e-12 0.003271 1 0 TNS1 7145 broad.mit.edu 37 2 218751275 218751275 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:218751275T>A ENST00000171887.4 - 11 1038 c.586A>T c.(586-588)Aac>Tac p.N196Y TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y|TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 196 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GACTCAAAGTTGGGGATGCCG 0.522000 OREG0015188 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 5 0 0 0.003163 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022564 161022564 + Nonsense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:161022564G>A ENST00000368013.3 - 7 1008 c.688C>T c.(688-690)Cga>Tga p.R230* ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230* NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 230 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGAAGCGATCGCCACCCACTC 0.607000 27 39 0 0 0.006320 0 0 TRGV2 6974 broad.mit.edu 37 7 38402465 38402465 + RNA SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:38402465C>A ENST00000426402.2 - 0 543 AATCACTGTGCCCGTCCCAGG 0.473000 31 27 6.00712e-18 8.76364e-18 0.012213 1 0 CYP21A1P 1590 broad.mit.edu 37 6 31975532 31975532 + RNA SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:31975532C>T ENST00000342991.6 + 0 1455 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GGACCGTGCACGGCTGCCCTT 0.657000 19 19 0 0 0.007413 0 0 CMTM1 113540 broad.mit.edu 37 16 66603837 66603837 + Splice_Site SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:66603837A>T ENST00000379500.2 + 2 499 c.e2-1 CMTM1_ENST00000328020.6_Splice_Site|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Splice_Site|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTTTTATTGCAGAGTCTTATC 0.323000 31 57 0 0 0.009535 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 4 26 0 0 0.009096 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090459 91090459 + Splice_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:91090459G>T ENST00000395337.2 + 4 589 c.e4-1 PCDH11X_ENST00000373097.1_5'UTR|PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR NM_032967.2 NP_116749.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTTTTGGTCAGTGTTGTGCGG 0.403000 38 11 1.96642e-18 2.89381e-18 0.006999 1 0 STK10 6793 broad.mit.edu 37 5 171488156 171488156 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:171488156C>A ENST00000176763.5 - 14 2542 c.2199G>T c.(2197-2199)caG>caT p.Q733H NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 733 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAAGGAGCTCCTGCTTCTTCA 0.617000 71 140 9.12251e-31 1.45701e-30 0.014410 1 0 AOX1 316 broad.mit.edu 37 2 201468754 201468754 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:201468754C>G ENST00000374700.2 + 8 844 c.603C>G c.(601-603)ctC>ctG p.L201L NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 201 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.L201L(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTCCAAAACTCTTCGCAGAAG 0.383000 32 30 0 0 0.013726 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94791279 94791279 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:94791279G>A ENST00000289495.5 + 4 1966 c.1750G>A c.(1750-1752)Gtc>Atc p.V584I AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 584 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAAGGGCAACGTCAGGTAAAT 0.363000 HNSCC(28;0.073) 5 3 0 0 0.001168 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627262 21627262 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:21627262C>G ENST00000425654.2 + 19 2609 c.2129C>G c.(2128-2130)tCt>tGt p.S710C CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 740 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CAGTCTCAGTCTTCTCATGAG 0.517000 34 10 0 0 0.003271 0 0 PRSS37 136242 broad.mit.edu 37 7 141536336 141536336 + Splice_Site SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:141536336C>A ENST00000350549.3 - 5 939 c.e5-1 PRSS37_ENST00000438520.1_Splice_Site NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 CGGCCACCTCCTACCGGAGAT 0.547000 12 4 6.40141e-05 7.70456e-05 0.010729 1 0 ZNF226 7769 broad.mit.edu 37 19 44680226 44680226 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:44680226C>T ENST00000590089.1 + 7 1178 c.811C>T c.(811-813)Cag>Tag p.Q271* ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271* Q9NYT6 ZN226_HUMAN zinc finger protein 226 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TGATCTTCATCAGCAGTTACA 0.423000 23 42 0 0 0.012319 0 0 DOCK9 23348 broad.mit.edu 37 13 99452600 99452600 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr13:99452600G>A ENST00000376460.1 - 53 5980 c.5900C>T c.(5899-5901)tCg>tTg p.S1967L DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1968 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACCTCGGCCGAGGAGCACAG 0.612000 11 21 0 0 0.010729 0 0 BNC1 646 broad.mit.edu 37 15 83926817 83926817 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:83926817C>T ENST00000345382.2 - 5 2447 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E781K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 788 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AAATGATCTTCACTACTCTCC 0.458000 36 63 0 0 0.005524 0 0 CDH9 1007 broad.mit.edu 37 5 26885803 26885803 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:26885803G>T ENST00000231021.4 - 11 1974 c.1802C>A c.(1801-1803)aCc>aAc p.T601N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 601 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GGCTTCTGCGGTGCAGGATTG 0.488000 6 20 5.9392e-07 7.33154e-07 0.001168 1 0 ERV3-1 2086 broad.mit.edu 37 7 64452342 64452342 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:64452342C>A ENST00000394323.2 - 2 1563 c.1063G>T c.(1063-1065)Gac>Tac p.D355Y NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 355 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 cctactgggtctgtaaaggcc 0.433000 13 31 3.03607e-14 4.22792e-14 0.013537 1 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 33 0 0 0.009096 0 0 CEP72 55722 broad.mit.edu 37 5 637653 637653 + Missense_Mutation SNP C C T rs143077618 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:637653C>T ENST00000264935.5 + 7 1016 c.926C>T c.(925-927)tCg>tTg p.S309L CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 309 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) ACCGAGGACTCGGCCTCTTCT 0.527000 28 50 0 0 0.007291 0 0 ANO5 203859 broad.mit.edu 37 11 22301128 22301128 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:22301128G>T ENST00000324559.8 + 22 2876 c.2559G>T c.(2557-2559)atG>atT p.M853I NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 853 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGCCTGGATGATACCTGATG 0.358000 17 37 0.00074312 0.000878707 0.006122 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098973 178098973 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:178098973C>G ENST00000397062.3 - 2 626 c.72G>C c.(70-72)tgG>tgC p.W24C NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 24 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.W24C(5) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TATCTTGCCTCCAAAGTATGT 0.348000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 19 20 0 0 0.006122 0 0 COL6A2 1292 broad.mit.edu 37 21 47552400 47552400 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr21:47552400C>A ENST00000300527.4 + 28 3098 c.2994C>A c.(2992-2994)caC>caA p.H998Q NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 998 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCGTGTTCCACGAGAAGGACT 0.677000 7 18 8.12818e-05 9.74804e-05 0.001984 1 0 ZNF776 284309 broad.mit.edu 37 19 58265188 58265188 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:58265188C>A ENST00000317178.5 + 3 953 c.690C>A c.(688-690)ctC>ctA p.L230L NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) AGAGACTTCTCCCTAGAGAAG 0.418000 38 69 1.04594e-18 1.54597e-18 0.006230 1 0 OR6K2 81448 broad.mit.edu 37 1 158669597 158669597 + Missense_Mutation SNP C C G rs141159720 byFrequency TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:158669597C>G ENST00000359610.2 - 1 889 c.846G>C c.(844-846)ttG>ttC p.L282F NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AGAAGGGAGACAAAACTGCAA 0.403000 10 29 0 0 0.006214 0 0 DAB2 1601 broad.mit.edu 37 5 39376143 39376143 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:39376143C>G ENST00000545653.1 - 12 2670 c.2140G>C c.(2140-2142)Gag>Cag p.E714Q DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000320816.6_Missense_Mutation_p.E735Q NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 735 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AAAGGGTTCTCAAATGCATTG 0.418000 19 36 0 0 0.008871 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301763 139301763 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:139301763G>A ENST00000298537.7 - 4 795 c.584C>T c.(583-585)cCg>cTg p.P195L SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 218 cytoplasm p.P218L(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CAGCTCCGACGGGGTGGAGAA 0.657000 11 8 0 0 0.010729 0 0 HTR2A 3356 broad.mit.edu 37 13 47409480 47409480 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr13:47409480G>A ENST00000378688.4 - 3 1039 c.908C>T c.(907-909)cCa>cTa p.P303L HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L|HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 303 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.P303Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTAGGACCCTGGCTCCCTATG 0.517000 21 29 0 0 0.014323 0 0 MGAM 8972 broad.mit.edu 37 7 141755884 141755884 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:141755884A>C ENST00000475668.2 + 29 3622 c.3568A>C c.(3568-3570)Agc>Cgc p.S1190R MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1190 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTGCTGAACAGCAATGCCAT 0.512000 8 3 0 0 0.003080 0 0 MMP13 4322 broad.mit.edu 37 11 102818711 102818711 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:102818711C>G ENST00000260302.3 - 8 1148 c.1120G>C c.(1120-1122)Ggt>Cgt p.G374R MMP13_ENST00000340273.4_Missense_Mutation_p.G374R NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 374 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTTGGAAGACCCAGTTCAGAT 0.403000 21 13 0 0 0.008871 0 0 ATP2C1 27032 broad.mit.edu 37 3 130698095 130698095 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:130698095C>T ENST00000510168.1 + 19 2123 c.1573C>T c.(1573-1575)Ctt>Ttt p.L525F ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 525 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTCCTAAGTTCTTGCTTTGGC 0.373000 Hailey-Hailey disease 8 164 0 0 0.003080 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754408 139754408 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:139754408G>A ENST00000445819.1 + 28 3551 c.3501G>A c.(3499-3501)gtG>gtA p.V1167V MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.V1088V Q6UXC1 AEGP_HUMAN MAM domain containing 4 1167 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGCTCCTGGTGCTGCTGGGAC 0.627000 24 29 0 0 0.003954 0 0 MORC1 27136 broad.mit.edu 37 3 108778707 108778707 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:108778707T>G ENST00000232603.5 - 12 1059 c.977A>C c.(976-978)cAg>cCg p.Q326P MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 326 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CAAAGCTCTCTGTAATACATC 0.358000 7 51 0 0 0.003080 0 0 LRRK1 79705 broad.mit.edu 37 15 101567909 101567909 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:101567909G>T ENST00000284395.5 + 20 2984 c.2584G>T c.(2584-2586)Gac>Tac p.D862Y LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 865 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGCCGGGACGACGACGTGCA 0.662000 12 7 7.93312e-07 9.75716e-07 0.002450 1 0 MYH4 4622 broad.mit.edu 37 17 10351339 10351339 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:10351339G>A ENST00000255381.2 - 34 4871 c.4761C>T c.(4759-4761)ctC>ctT p.L1587L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1587 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTAGCTGATCGAGTTCTTCAT 0.418000 6 155 0 0 0.003080 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 5 42 0 0 0.001168 0 0 MUC5B 727897 broad.mit.edu 37 11 1263788 1263788 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:1263788C>A ENST00000447027.1 + 31 5745 c.5687C>A c.(5686-5688)tCc>tAc p.S1896Y MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1893 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACCAGCTCCACGGCCACG 0.612000 45 81 1.86633e-21 2.84595e-21 0.014410 1 0 ZNF560 147741 broad.mit.edu 37 19 9577562 9577562 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:9577562G>A ENST00000301480.4 - 10 2274 c.2061C>T c.(2059-2061)aaC>aaT p.N687N NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 687 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 TTCCACATGCGTTACATTCAG 0.373000 69 111 0 0 0.014410 0 0 SLC24A5 283652 broad.mit.edu 37 15 48434437 48434437 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:48434437C>T ENST00000341459.3 + 9 1465 c.1392C>T c.(1390-1392)gaC>gaT p.D464D SLC24A5_ENST00000449382.2_Silent_p.D404D|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 464 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GGAAACTAGACAGAAAGTTGG 0.343000 40 20 0 0 0.006999 0 0 ZNF716 441234 broad.mit.edu 37 7 57529071 57529071 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:57529071G>T ENST00000420713.1 + 4 1016 c.904G>T c.(904-906)Ggc>Tgc p.G302C NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TGAAGAATGTGGCAAAGCCTT 0.418000 8 16 0.00307968 0.00360365 0.003080 1 0 GRM8 2918 broad.mit.edu 37 7 126544151 126544151 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:126544151T>C ENST00000339582.2 - 5 1701 c.893A>G c.(892-894)aAc>aGc p.N298S GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 298 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCACTTTGGTTTAGTTTTTT 0.368000 HNSCC(24;0.065) 42 60 0 0 0.009718 0 0 DMD 1756 broad.mit.edu 37 X 32328320 32328320 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:32328320G>A ENST00000357033.4 - 42 6202 c.5996C>T c.(5995-5997)aCt>aTt p.T1999I DMD_ENST00000378677.2_Missense_Mutation_p.T1995I NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1999 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGTCAAATAAGTAGAAGGCAC 0.393000 21 7 0 0 0.010504 0 0 GLUD1 2746 broad.mit.edu 37 10 88836358 88836358 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:88836358C>T ENST00000277865.4 - 2 597 c.501G>A c.(499-501)ctG>ctA p.L167L GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 167 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTATGTCATCAGAGAAGCCA 0.413000 25 36 0 0 0.004656 0 0 TIAM1 7074 broad.mit.edu 37 21 32554912 32554912 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr21:32554912C>T ENST00000286827.3 - 16 3184 c.2713G>A c.(2713-2715)Gcc>Acc p.A905T TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 905 PDZ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GAGTTCAGGGCGTCAGCAGCA 0.498000 5 63 0 0 0.000602 0 0 AFF2 2334 broad.mit.edu 37 X 148072769 148072769 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:148072769G>T ENST00000370460.2 + 21 4322 c.3843G>T c.(3841-3843)atG>atT p.M1281I AFF2_ENST00000286437.5_Missense_Mutation_p.M922I|AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1281 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACACGCTGATGGGGCCTCTGA 0.493000 62 18 2.02796e-37 3.35011e-37 0.014410 1 0 OR4A47 403253 broad.mit.edu 37 11 48511249 48511249 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:48511249G>T ENST00000446524.1 + 1 981 c.905G>T c.(904-906)aGa>aTa p.R302I NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 CTCTGGAGAAGAGACCTCATA 0.413000 28 50 1.77063e-15 2.49666e-15 0.005443 1 0 TTN 7273 broad.mit.edu 37 2 179596593 179596593 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:179596593C>G ENST00000589042.1 - 58 17233 c.17009G>C c.(17008-17010)tGg>tCg p.W5670S TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5353 Ig-like 37. 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) ATCTTTGAACCAAGTGATCTC 0.428000 37 139 0 0 0.004289 0 0 P2RY2 5029 broad.mit.edu 37 11 72946311 72946311 + Missense_Mutation SNP C C G rs145119561 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:72946311C>G ENST00000311131.2 + 3 1574 c.1107C>G c.(1105-1107)agC>agG p.S369R P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 369 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CGGCTGGTAGCGAGAACACTA 0.552000 47 35 0 0 0.014410 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29888756 29888756 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:29888756A>T ENST00000308713.5 - 11 2272 c.1745T>A c.(1744-1746)cTg>cAg p.L582Q SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 582 CUB 3. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCGTCGAACAGCGTCAGCAT 0.692000 10 26 0 0 0.010729 0 0 OR5T3 390154 broad.mit.edu 37 11 56019812 56019812 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:56019812G>C ENST00000303059.3 + 1 137 c.137G>C c.(136-138)gGc>gCc p.G46A NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ATATTGACAGGCTTCACAGAT 0.373000 41 67 0 0 0.013114 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451290 110451290 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:110451290G>A ENST00000378402.5 + 32 4029 c.3925G>A c.(3925-3927)Gaa>Aaa p.E1309K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1309 IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATCTATGTAGAAGTCAGAAA 0.398000 HNSCC(38;0.096) 64 106 0 0 0.014410 0 0 KCNN2 3781 broad.mit.edu 37 5 113831815 113831815 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:113831815G>T ENST00000512097.3 + 9 2694 c.1676G>T c.(1675-1677)cGg>cTg p.R559L KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L|RP11-492A10.1_ENST00000514115.1_RNA Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 559 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GAGCGGTCCCGGTCCTCGTCC 0.512000 31 74 2.08457e-15 2.92708e-15 0.010818 1 0 SLC15A1 6564 broad.mit.edu 37 13 99364806 99364806 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr13:99364806A>G ENST00000376503.5 - 10 811 c.756T>C c.(754-756)agT>agC p.S252S NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 252 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GAAATGCCTTACTCCGATGCC 0.433000 37 92 0 0 0.007835 0 0 VKORC1 79001 broad.mit.edu 37 16 31105904 31105904 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:31105904G>A ENST00000319788.7 - 1 357 c.147C>T c.(145-147)atC>atT p.I49I RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Silent_p.I49I|VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000300851.6_Silent_p.I49I Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 49 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) GCGAACAGCTGATGGCGGTGC 0.682000 12 11 0 0 0.013537 0 0 OR4C46 119749 broad.mit.edu 37 11 51515722 51515722 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:51515722G>T ENST00000328188.1 + 1 441 c.441G>T c.(439-441)tgG>tgT p.W147C NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAGTGGTGTGGATGGGAGGCT 0.463000 75 119 1.15098e-32 1.8648e-32 0.014410 1 0 MAGI3 260425 broad.mit.edu 37 1 114216018 114216018 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:114216018G>A ENST00000369615.1 + 19 3182 c.3120G>A c.(3118-3120)gaG>gaA p.E1040E MAGI3_ENST00000307546.9_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000369611.4_Silent_p.E1040E NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1065 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGGAAGGAGTACAACATGG 0.488000 64 39 0 0 0.014410 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509618 171509618 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:171509618G>T ENST00000367742.3 + 16 3255 c.3013G>T c.(3013-3015)Gaa>Taa p.E1005* PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1003* Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1003 protein C-terminus binding TAACAGAAGGGAAGAAGTTAA 0.413000 17 16 1.02788e-11 1.36377e-11 0.004990 1 0 MYO7A 4647 broad.mit.edu 37 11 76916513 76916513 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:76916513C>T ENST00000409709.3 + 40 5759 c.5487C>T c.(5485-5487)agC>agT p.S1829S MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1829 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCAGGTACAGCGAGGAGCGGG 0.677000 5 0 0 0 0.000602 0 0 PRELP 5549 broad.mit.edu 37 1 203452824 203452824 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:203452824G>A ENST00000343110.2 + 2 639 c.512G>A c.(511-513)cGg>cAg p.R171Q NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 171 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) GCCCTGCCCCGGAACCTGGAG 0.597000 5 149 0 0 0.001984 0 0 THEMIS 387357 broad.mit.edu 37 6 128222065 128222065 + Translation_Start_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:128222065G>T ENST00000368250.1 - 0 274 THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M Q8N1K5 THMS1_HUMAN thymocyte selection associated negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AATTCTTCCAGTGATAATGCC 0.498000 51 69 9.57592e-29 1.51506e-28 0.014410 1 0 PRRX1 5396 broad.mit.edu 37 1 170688866 170688866 + Splice_Site SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:170688866G>C ENST00000239461.6 + 2 554 c.e2-1 PRRX1_ENST00000497230.2_Splice_Site|PRRX1_ENST00000367760.3_Splice_Site NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCTATTCCAGATGACCAGCT 0.408000 14 19 0 0 0.003163 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24980081 24980081 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:24980081C>A ENST00000289968.6 - 5 354 c.285G>T c.(283-285)gaG>gaT p.E95D ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 95 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CTCCACACGTCTCCAGCATCT 0.507000 27 38 2.41591e-17 3.49426e-17 0.004656 1 0 MYO18B 84700 broad.mit.edu 37 22 26242187 26242187 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr22:26242187C>A ENST00000335473.7 + 19 3739 c.3489C>A c.(3487-3489)acC>acA p.T1163T MYO18B_ENST00000536101.1_Silent_p.T1163T|MYO18B_ENST00000407587.2_Silent_p.T1164T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1163 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGAGGAGGACCTTTGCCAGCA 0.672000 27 36 1.04121e-07 1.30929e-07 0.005443 1 0 PCDH10 57575 broad.mit.edu 37 4 134072226 134072226 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr4:134072226G>C ENST00000264360.4 + 1 1757 c.931G>C c.(931-933)Gag>Cag p.E311Q NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 311 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGGCAGACTGGAGGTAAGCGG 0.632000 37 23 0 0 0.003271 0 0 OR1N2 138882 broad.mit.edu 37 9 125315511 125315511 + Silent SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:125315511G>C ENST00000373688.2 + 1 121 c.63G>C c.(61-63)gtG>gtC p.V21V NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CAGGCAGAGTGAACCAAACCA 0.448000 39 59 0 0 0.004289 0 0 SPACA1 81833 broad.mit.edu 37 6 88763681 88763681 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:88763681G>C ENST00000237201.1 + 2 343 c.226G>C c.(226-228)Gtc>Ctc p.V76L NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 76 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TAGGAATGTCGTCAAAGAAGT 0.348000 8 20 0 0 0.008291 0 0 RSRC1 51319 broad.mit.edu 37 3 157920993 157920993 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:157920993G>C ENST00000295930.3 + 4 615 c.453G>C c.(451-453)aaG>aaC p.K151N RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000464171.1_Intron NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 151 EK -> GE (in Ref. 3; AAF64267). nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) aaaaggagaaggataaaggga 0.448000 9 25 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9000496 9000496 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:9000496C>A ENST00000397910.4 - 54 40691 c.40488G>T c.(40486-40488)atG>atT p.M13496I MUC16_ENST00000380951.5_Missense_Mutation_p.M137I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13498 SEA 10. 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 CAGGGTGATGCATGTTCTCCT 0.478000 33 66 9.65021e-13 1.31134e-12 0.010818 1 0 KIAA1217 56243 broad.mit.edu 37 10 24727394 24727394 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:24727394A>G ENST00000376454.3 + 5 862 c.832A>G c.(832-834)Aat>Gat p.N278D KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 278 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAAAACTATGAATGGAGACAT 0.403000 43 56 0 0 0.008740 0 0 ZHX2 22882 broad.mit.edu 37 8 123965602 123965602 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:123965602T>C ENST00000314393.4 + 3 2687 c.1852T>C c.(1852-1854)Tcc>Ccc p.S618P NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 618 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGACCAGCTCTCCGGTGCCCA 0.532000 25 52 0 0 0.003954 0 0 RECQL5 9400 broad.mit.edu 37 17 73657115 73657115 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:73657115C>G ENST00000420326.2 - 6 1065 c.906G>C c.(904-906)caG>caC p.Q302H RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 302 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TCCAGTCGTTCTGCACCAGCG 0.512000 Other identified genes with known or suspected DNA repair function 14 110 0 0 0.001855 0 0 OR2T3 343173 broad.mit.edu 37 1 248637239 248637239 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:248637239C>G ENST00000359594.2 + 1 613 c.588C>G c.(586-588)gaC>gaG p.D196E NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTCTGACGTCTCCCTCT 0.522000 107 273 0 0 0.014410 0 0 LEPR 3953 broad.mit.edu 37 1 66081724 66081724 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:66081724C>T ENST00000349533.6 + 15 2214 c.2029C>T c.(2029-2031)Cag>Tag p.Q677* LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677* NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 677 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GTGCAGTGTTCAGAGATATGT 0.393000 15 15 0 0 0.004007 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274094 10274094 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:10274094G>T ENST00000396573.2 - 3 484 c.175C>A c.(175-177)Cag>Aag p.Q59K GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 59 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGCCGCCTGCTCGGGGCCC 0.657000 44 77 1.8453e-21 2.82666e-21 0.010771 1 0 DUSP12 11266 broad.mit.edu 37 1 161719654 161719654 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:161719654C>T ENST00000367943.4 + 1 95 c.63C>T c.(61-63)gtC>gtT p.V21V DUSP12_ENST00000484291.1_3'UTR NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 21 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CCAGCAGAGTCAGCTGTGCCG 0.672000 4 16 0 0 0.009096 0 0 PSKH2 85481 broad.mit.edu 37 8 87060915 87060915 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:87060915C>G ENST00000276616.2 - 3 1008 c.934G>C c.(934-936)Ggc>Cgc p.G312R NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 312 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) AGGGCCTGGCCAGCTGACATG 0.512000 36 49 0 0 0.004289 0 0 LDLRAD4 753 broad.mit.edu 37 18 13621229 13621229 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr18:13621229C>T ENST00000361205.4 + 5 963 c.295C>T c.(295-297)Cgc>Tgc p.R99C LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R99C NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 p.R99C(2)|p.R62C(1) CTTCATCAACCGCCCGAACCA 0.637000 102 29 0 0 0.014410 0 0 WBSCR17 64409 broad.mit.edu 37 7 71142291 71142291 + Splice_Site SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:71142291G>T ENST00000333538.5 + 9 2134 c.1500_splice c.e9+1 p.Q500_splice WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 500 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGGACCACAGGTAGGAGCTC 0.537000 61 111 1.03172e-35 1.68782e-35 0.014410 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 3 56 0 0 0.001984 0 0 DDI2 84301 broad.mit.edu 37 1 15956910 15956910 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:15956910C>T ENST00000480945.1 + 3 530 c.359C>T c.(358-360)tCa>tTa p.S120L NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 120 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGTCCCACTCATCTCCTGGA 0.542000 33 15 0 0 0.010818 0 0 CACNA1E 777 broad.mit.edu 37 1 181680164 181680164 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:181680164A>G ENST00000526775.1 + 8 1295 c.1130A>G c.(1129-1131)gAg>gGg p.E377G CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 377 Binding to the beta subunit (By similarity). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAGCAGATTGAGCGTGAGCTG 0.577000 39 98 0 0 0.007835 0 0 CD226 10666 broad.mit.edu 37 18 67614187 67614187 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr18:67614187G>A ENST00000280200.4 - 3 433 c.165C>T c.(163-165)acC>acT p.T55T CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 55 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) AATCCTGCTGGGTCCCGATCT 0.463000 21 15 0 0 0.012319 0 0 TRRAP 8295 broad.mit.edu 37 7 98581764 98581764 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:98581764A>G ENST00000359863.4 + 60 9292 c.9083A>G c.(9082-9084)aAt>aGt p.N3028S TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3028 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCAGTTCAAATAACGCTATG 0.448000 43 62 0 0 0.006999 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716928 170716928 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:170716928G>T ENST00000314251.3 - 9 1175 c.1096C>A c.(1096-1098)Cgt>Agt p.R366S SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 366 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AAGAGAGAACGTCGCCCTGCC 0.398000 39 107 2.54651e-27 3.9915e-27 0.006999 1 0 KIDINS220 57498 broad.mit.edu 37 2 8936972 8936972 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:8936972T>C ENST00000256707.3 - 11 1208 c.1027A>G c.(1027-1029)Acc>Gcc p.T343A KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 343 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCATCTTGGTAGCCTTTATA 0.418000 64 121 0 0 0.014410 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601217 138601217 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:138601217G>A ENST00000251691.4 + 14 2543 c.2377G>A c.(2377-2379)Gtg>Atg p.V793M NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 793 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTACCATCAGGTGCTCGACAG 0.552000 28 29 0 0 0.006320 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216179 20216179 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr14:20216179T>A ENST00000331723.1 + 1 593 c.593T>A c.(592-594)gTg>gAg p.V198E NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGTAGAGGTGCTGGTGATA 0.493000 25 36 0 0 0.002780 0 0 CCDC150 284992 broad.mit.edu 37 2 197538986 197538986 + Missense_Mutation SNP A A G rs36060491 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:197538986A>G ENST00000389175.4 + 10 1186 c.1051A>G c.(1051-1053)Aaa>Gaa p.K351E CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E|CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 351 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CCAATTGACTAAAAAGTGTTC 0.343000 7 9 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179465721 179465721 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:179465721C>A ENST00000589042.1 - 288 56134 c.55910G>T c.(55909-55911)cGt>cTt p.R18637L TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16996 Fibronectin type-III 35. 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) TTCCACATCACGCTTATTGCA 0.488000 138 102 2.82259e-58 4.68578e-58 0.014410 1 0 OGDHL 55753 broad.mit.edu 37 10 50945898 50945898 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:50945898T>A ENST00000374103.4 - 20 2609 c.2524A>T c.(2524-2526)Atc>Ttc p.I842F OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 842 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGTGTGAAGATAATCAGCTGG 0.617000 33 50 0 0 0.010818 0 0 WNT8B 7479 broad.mit.edu 37 10 102241771 102241771 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:102241771G>A ENST00000343737.5 + 5 598 c.470G>A c.(469-471)cGg>cAg p.R157Q NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 157 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) CAGGATGCACGGGCAGCCATG 0.592000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 48 0 0 0.004656 0 0 PKD2L1 9033 broad.mit.edu 37 10 102050202 102050202 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:102050202C>A ENST00000318222.3 - 13 2464 c.2082G>T c.(2080-2082)gaG>gaT p.E694D PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 694 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTCTGGCAGCCTCTGGACCCG 0.527000 8 23 0.000157383 0.000187414 0.003080 1 0 RFX5 5993 broad.mit.edu 37 1 151315026 151315026 + Nonsense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:151315026G>C ENST00000290524.4 - 11 1665 c.1487C>G c.(1486-1488)tCa>tGa p.S496* RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496* NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 496 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGGTAACCTTGAGGACTGGGC 0.577000 83 194 0 0 0.014410 0 0 FBXL7 23194 broad.mit.edu 37 5 15616151 15616151 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:15616151A>G ENST00000504595.1 + 2 578 c.97A>G c.(97-99)Aaa>Gaa p.K33E FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 33 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CACGCCCACTAAAGCCCAGAA 0.453000 10 25 0 0 0.013537 0 0 FMN2 56776 broad.mit.edu 37 1 240370643 240370643 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:240370643C>T ENST00000319653.9 + 5 2761 c.2531C>T c.(2530-2532)tCt>tTt p.S844F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 844 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACGAACACTCTGTTTCCTCT 0.562000 73 68 0 0 0.014410 0 0 TBX3 6926 broad.mit.edu 37 12 115109999 115109999 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:115109999G>A ENST00000349155.2 - 7 2782 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S TBX3_ENST00000257566.3_Missense_Mutation_p.P627S NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 627 Transcription repression. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TTGAGGAAGGGGTGGCGGTGC 0.682000 3 2 0 0 0.004672 0 0 PBX2 5089 broad.mit.edu 37 6 32154610 32154610 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:32154610C>T ENST00000375050.4 - 7 1363 c.1093G>A c.(1093-1095)Gat>Aat p.D365N NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 365 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GAATAGGAATCTCCGTTGAGC 0.512000 30 55 0 0 0.012213 0 0 OR4X2 119764 broad.mit.edu 37 11 48267430 48267430 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:48267430A>G ENST00000302329.3 + 1 823 c.775A>G c.(775-777)Ata>Gta p.I259V NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CACTCTGCCCATAGACAAGAT 0.512000 26 32 0 0 0.003330 0 0 COL19A1 1310 broad.mit.edu 37 6 70856592 70856592 + Silent SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:70856592A>T ENST00000322773.4 + 26 1914 c.1812A>T c.(1810-1812)ccA>ccT p.P604P COL19A1_ENST00000393344.1_Silent_p.P226P NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 604 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CACGTGGGCCAAAGGTATACA 0.323000 5 11 0 0 0.001168 0 0 CDH17 1015 broad.mit.edu 37 8 95174380 95174380 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:95174380G>T ENST00000027335.3 - 11 1417 c.1293C>A c.(1291-1293)acC>acA p.T431T CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 431 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CAAAACAAAGGGTCTTGAAAT 0.313000 13 30 6.72482e-11 8.81815e-11 0.003163 1 0 OR5P2 120065 broad.mit.edu 37 11 7818034 7818034 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:7818034A>G ENST00000329434.2 - 1 486 c.456T>C c.(454-456)gcT>gcC p.A152A RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TATAGGAGACAGCAATGAGAA 0.388000 31 44 0 0 0.010818 0 0 LRP4 4038 broad.mit.edu 37 11 46908046 46908046 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:46908046T>C ENST00000378623.1 - 17 2496 c.2254A>G c.(2254-2256)Atc>Gtc p.I752V NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 752 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ATTCGACGGATGTCCATCCTT 0.517000 25 34 0 0 0.006320 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847532 88847532 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:88847532G>T ENST00000333190.4 + 2 781 c.172G>T c.(172-174)Gaa>Taa p.E58* NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 58 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTTTTACTGTGAATTATGTGA 0.368000 HNSCC(36;0.09) 26 29 1.1804e-14 1.6506e-14 0.003954 1 0 ANKRD50 57182 broad.mit.edu 37 4 125600031 125600031 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr4:125600031T>G ENST00000504087.1 - 3 1579 c.542A>C c.(541-543)aAg>aCg p.K181T ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 181 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CTGGGGAGGCTTCATTCCCAG 0.398000 3 99 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139165165 139165165 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:139165165C>A ENST00000395297.1 - 13 1723 c.1553G>T c.(1552-1554)tGt>tTt p.C518F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 518 p.C518F(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCCAGTCCAACATTCATCTTC 0.463000 HNSCC(54;0.14) 41 165 2.24893e-16 3.2114e-16 0.009718 1 0 FAM188A 80013 broad.mit.edu 37 10 15828592 15828592 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:15828592C>A ENST00000378036.1 - 4 1375 c.199G>T c.(199-201)Ggc>Tgc p.G67C FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C|FAM188A_ENST00000477891.1_5'UTR Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 362 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 AGAAATGGGCCCAATAATATG 0.338000 38 77 6.97489e-18 1.01316e-17 0.004878 1 0 SCN3A 6328 broad.mit.edu 37 2 165986510 165986510 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:165986510G>T ENST00000360093.3 - 17 3353 c.2862C>A c.(2860-2862)gtC>gtA p.V954V SCN3A_ENST00000409101.3_Silent_p.V905V|SCN3A_ENST00000283254.7_Silent_p.V954V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 954 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) TTTGGCCAGCGACCTCCATAC 0.468000 188 143 3.0798e-103 5.16365e-103 0.014410 1 0 CDK8 1024 broad.mit.edu 37 13 26911771 26911771 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr13:26911771G>C ENST00000381527.3 + 2 699 c.196G>C c.(196-198)Gaa>Caa p.E66Q CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 66 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GGCATGTAGAGAAATAGCAGT 0.294000 30 51 0 0 0.003755 0 0 ZNF878 729747 broad.mit.edu 37 19 12155285 12155285 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:12155285A>G ENST00000602107.1 - 5 1071 c.1072T>C c.(1072-1074)Tat>Cat p.Y358H CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TTACACTCATAGGGTTTCTCT 0.403000 33 74 0 0 0.012213 0 0 DRP2 1821 broad.mit.edu 37 X 100494001 100494001 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:100494001C>T ENST00000395209.3 + 6 997 c.470C>T c.(469-471)cCc>cTc p.P157L DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 157 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 TCTCGGGGCCCCTACATCTAT 0.463000 58 16 0 0 0.014410 0 0 KIF26B 55083 broad.mit.edu 37 1 245849620 245849620 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:245849620G>T ENST00000366518.4 + 9 2296 c.2192G>T c.(2191-2193)gGc>gTc p.G731V KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V Q2KJY2 KI26B_HUMAN kinesin family member 26B 1112 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AAGGATTCCGGCGTGGCGTCT 0.612000 56 125 3.31993e-32 5.35318e-32 0.014410 1 0 HSF2BP 11077 broad.mit.edu 37 21 45076541 45076541 + Silent SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr21:45076541T>A ENST00000291560.2 - 3 445 c.114A>T c.(112-114)atA>atT p.I38I HSF2BP_ENST00000542962.1_Intron NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 38 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) AGAAGTCCCGTATTTGCATCA 0.393000 39 51 0 0 0.006999 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994844 143994844 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:143994844C>A ENST00000323110.2 - 6 980 c.978G>T c.(976-978)acG>acT p.T326T NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 326 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCTCAAAGAGCGTCATCAGCA 0.622000 Familial Hyperaldosteronism type I 27 151 3.73148e-12 5.00999e-12 0.007291 1 0 UNC13A 23025 broad.mit.edu 37 19 17728564 17728564 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:17728564G>A ENST00000428389.2 - 42 4768 c.4769C>T c.(4768-4770)aCg>aTg p.T1590M UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1502 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GGTGGCCTGCGTGTAGAGCGA 0.607000 50 72 0 0 0.014410 0 0 HDHD1 8226 broad.mit.edu 37 X 7023726 7023726 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:7023726T>C ENST00000381077.5 - 2 291 c.215A>G c.(214-216)gAg>gGg p.E72G HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 72 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 CACCAGCTCCTCTTTGGACAT 0.502000 16 0 0 0 0.004007 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856854 19856854 + RNA SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr14:19856854C>G ENST00000548109.1 + 0 72 CTCATGTCATCTACAGCACTC 0.343000 7 40 0 0 0.004482 0 0 PCDH15 65217 broad.mit.edu 37 10 56106133 56106133 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr10:56106133C>A ENST00000373965.2 - 6 980 c.586G>T c.(586-588)Gat>Tat p.D196Y PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 196 Cadherin 2. 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 p.D196Y(2)|p.D201Y(2) 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) ACCGGATCATCTGGATTATAC 0.308000 HNSCC(58;0.16) 26 59 1.66031e-10 2.16869e-10 0.003954 1 0 CLCNKB 1188 broad.mit.edu 37 1 16380200 16380200 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:16380200A>G ENST00000375679.4 + 16 1800 c.1689A>G c.(1687-1689)ccA>ccG p.P563P CLCNKB_ENST00000375667.3_Silent_p.P394P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) AGGACATGCCACTGGAGGAGG 0.632000 15 15 0 0 0.008871 0 0 OR2T3 343173 broad.mit.edu 37 1 248637225 248637225 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:248637225C>T ENST00000359594.2 + 1 599 c.574C>T c.(574-576)Ctc>Ttc p.L192F NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTGAAGCTCTCCTGCTC 0.517000 192 155 0 0 0.014410 0 0 FUK 197258 broad.mit.edu 37 16 70499039 70499039 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:70499039C>T ENST00000288078.6 + 4 477 c.245C>T c.(244-246)tCc>tTc p.S82F FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron|FUK_ENST00000571514.1_Intron NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 82 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GTGGTCACATCCGATGTCCTG 0.572000 11 14 0 0 0.001855 0 0 ST5 6764 broad.mit.edu 37 11 8737301 8737301 + Missense_Mutation SNP C C T rs144868309 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:8737301C>T ENST00000534127.1 - 9 2079 c.1694G>A c.(1693-1695)cGg>cAg p.R565Q ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q|ST5_ENST00000530991.1_Missense_Mutation_p.R37Q NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 565 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TCGTGGCAGCCGGTGGCTCTT 0.617000 41 80 0 0 0.011902 0 0 NPY5R 4889 broad.mit.edu 37 4 164272687 164272687 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr4:164272687A>G ENST00000515560.1 + 4 2784 c.1262A>G c.(1261-1263)aAt>aGt p.N421S NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 421 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGTTGTCTTAATCCAATTCTA 0.328000 45 20 0 0 0.014410 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800246 74800246 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:74800246C>G ENST00000305159.3 - 1 553 c.513G>C c.(511-513)atG>atC p.M171I NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 TGTTATATGCCATCTGGGAGG 0.572000 25 9 0 0 0.003954 0 0 OR2T1 26696 broad.mit.edu 37 1 248569514 248569514 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:248569514C>A ENST00000366474.1 + 1 219 c.219C>A c.(217-219)acC>acA p.T73T NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAAGGAAACCTCAGGTCTTA 0.423000 83 73 1.20873e-29 1.92143e-29 0.014410 1 0 COX10 1352 broad.mit.edu 37 17 13977709 13977709 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:13977709A>G ENST00000261643.3 + 2 190 c.113A>G c.(112-114)cAt>cGt p.H38R COX10_ENST00000429152.2_Missense_Mutation_p.H38R|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 38 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AAGTTCTTACATCTTCTCAGG 0.403000 63 95 0 0 0.014410 0 0 MITD1 129531 broad.mit.edu 37 2 99797327 99797327 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:99797327C>T ENST00000289359.2 - 1 194 c.118G>A c.(118-120)Gag>Aag p.E40K MRPL30_ENST00000410042.1_Intron NM_138798.1 NP_620153.1 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, domain containing 1 40 MIT. protein transport late endosome membrane large_intestine(3)|lung(2)|ovary(1) 6 TCAATCCCCTCTTGGTAACAC 0.582000 65 104 0 0 0.014410 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253706 32253706 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr21:32253706G>T ENST00000332378.4 - 1 168 c.138C>A c.(136-138)ttC>ttA p.F46L NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 46 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 AGCCAGTCTGGAAGGAACTGG 0.582000 24 39 6.21321e-17 8.91001e-17 0.002780 1 0 SNHG14 104472715 broad.mit.edu 37 15 25438354 25438354 + RNA SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:25438354C>G ENST00000424208.1 + 0 1213 SNHG14_ENST00000414175.1_RNA NR_003305.1 GTGCTGAGCCCCTGGTGCACT 0.597000 46 16 0 0 0.009718 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913079 143913079 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:143913079C>G ENST00000409869.1 + 3 197 c.20C>G c.(19-21)tCt>tGt p.S7C ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 7 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCTACAAATTCTGATACTTCC 0.373000 11 18 0 0 0.008291 0 0 OR5H1 26341 broad.mit.edu 37 3 97852283 97852283 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:97852283G>T ENST00000354565.2 + 1 742 c.742G>T c.(742-744)Gtc>Ttc p.V248F RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 TCTCTTCTCTGTCTCTTTATA 0.413000 45 160 3.7052e-28 5.83483e-28 0.013114 1 0 IVNS1ABP 10625 broad.mit.edu 37 1 185276680 185276680 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:185276680G>C ENST00000367498.3 - 6 1094 c.472C>G c.(472-474)Cag>Gag p.Q158E IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 158 BACK. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 AAATGCTCCTGAATATAAGCA 0.363000 25 70 0 0 0.004656 0 0 APOB 338 broad.mit.edu 37 2 21228818 21228818 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:21228818G>T ENST00000233242.1 - 26 11049 c.10922C>A c.(10921-10923)tCt>tAt p.S3641Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3641 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAAAGACCCAGAATGAATCCG 0.463000 14 26 1.5842e-08 2.01462e-08 0.001855 1 0 CPQ 10404 broad.mit.edu 37 8 97978226 97978226 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:97978226G>A ENST00000220763.5 + 5 1123 c.913G>A c.(913-915)Ggt>Agt p.G305S NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 305 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GGATGATGGCGGTGGAGCCTT 0.378000 3 56 0 0 0.000602 0 0 C1orf173 127254 broad.mit.edu 37 1 75037100 75037100 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:75037100C>A ENST00000326665.5 - 14 4512 c.4294G>T c.(4294-4296)Ggc>Tgc p.G1432C C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1432 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTGGAGTGCCCACCCCAGCC 0.612000 58 33 2.43698e-19 3.6339e-19 0.014410 1 0 IARS 3376 broad.mit.edu 37 9 95009669 95009669 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:95009669G>T ENST00000375643.3 - 26 3047 c.2781C>A c.(2779-2781)ttC>ttA p.F927L IARS_ENST00000443024.2_Missense_Mutation_p.F927L|IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000375629.3_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 927 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CAGTCTTCTGGAACTGCTCCA 0.483000 24 53 2.24059e-21 3.40126e-21 0.006320 1 0 ACY3 91703 broad.mit.edu 37 11 67410230 67410230 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:67410230G>T ENST00000255082.3 - 8 1095 c.925C>A c.(925-927)Ccc>Acc p.P309T ACY3_ENST00000529256.1_Missense_Mutation_p.P188T NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 309 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) GTCAGCGCGGGCATGGCAGGC 0.587000 45 98 4.78724e-31 7.68238e-31 0.014410 1 0 RIMS2 9699 broad.mit.edu 37 8 105235910 105235910 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:105235910G>T ENST00000339750.2 + 1 31 c.31G>T c.(31-33)Gct>Tct p.A11S RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1247 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGGTGCCAGCGCTGCGGGGCG 0.687000 HNSCC(12;0.0054) 8 16 1.12685e-05 1.36111e-05 0.004482 1 0 DCHS1 8642 broad.mit.edu 37 11 6643935 6643935 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:6643935C>T ENST00000299441.3 - 21 9383 c.8972G>A c.(8971-8973)cGg>cAg p.R2991Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2991 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTGGCTCCCGGCCCAGTTT 0.642000 5 5 0 0 0.000602 0 0 HECTD4 283450 broad.mit.edu 37 12 112622228 112622228 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:112622228G>A ENST00000550722.1 - 61 10499 c.10104C>T c.(10102-10104)gcC>gcT p.A3368A HECTD4_ENST00000430131.2_Silent_p.A3092A|HECTD4_ENST00000377560.5_Silent_p.A3342A NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTCGAGGCCGGCAGGCAGCG 0.677000 11 1 0 0 0.008291 0 0 DYRK1B 9149 broad.mit.edu 37 19 40321360 40321360 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:40321360C>T ENST00000593685.1 - 3 595 c.127G>A c.(127-129)Gcc>Acc p.A43T DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 43 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CGCAGCGGGGCTGAGGTTGCA 0.642000 30 42 0 0 0.007291 0 0 TRIM39 56658 broad.mit.edu 37 6 30297275 30297275 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:30297275G>A ENST00000376659.5 + 3 779 c.181G>A c.(181-183)Gag>Aag p.E61K TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GGAGGACCTAGAGAGGGACTT 0.542000 48 83 0 0 0.014410 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529897 80529897 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:80529897C>A ENST00000295057.3 - 2 1704 c.1048G>T c.(1048-1050)Ggc>Tgc p.G350C LRRTM1_ENST00000409148.1_Missense_Mutation_p.G350C|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 350 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 ACGTCCTCGCCCTGTGCGTAC 0.672000 HNSCC(69;0.2) 14 20 1.5842e-08 2.01462e-08 0.001855 1 0 GALNTL5 168391 broad.mit.edu 37 7 151699803 151699803 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:151699803T>A ENST00000392800.2 + 6 917 c.663T>A c.(661-663)gaT>gaA p.D221E GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 221 Catalytic subdomain A. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCCCAGGGGATGTTCTGGTGT 0.498000 25 12 0 0 0.002780 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 44 0 0 0.001168 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188112 72188112 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:72188112C>T ENST00000537465.1 - 4 570 c.412G>A c.(412-414)Gag>Aag p.E138K PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 138 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GTCTATACCTCATCTTCTTTC 0.463000 42 68 0 0 0.010771 0 0 RPS6KB1 6198 broad.mit.edu 37 17 58024140 58024140 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:58024140G>C ENST00000225577.4 + 15 1590 c.1569G>C c.(1567-1569)atG>atC p.M523I RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 523 Autoinhibitory domain. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) ACCTGCGTATGAATCTATGAC 0.463000 31 45 0 0 0.003271 0 0 RGS7 6000 broad.mit.edu 37 1 240964780 240964780 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:240964780G>C ENST00000366565.1 - 17 1769 c.1388C>G c.(1387-1389)tCt>tGt p.S463C RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 463 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTTTCAAAAGATGTTCTGCG 0.333000 10 18 0 0 0.008291 0 0 PLCH1 23007 broad.mit.edu 37 3 155203145 155203145 + Splice_Site SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:155203145C>T ENST00000460012.1 - 22 3241 c.2884_splice c.e22+1 p.A962_splice PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1000 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCATCTTACCTAGAGAGTTT 0.423000 13 50 0 0 0.013537 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955542 12955542 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:12955542A>C ENST00000235347.4 - 2 216 c.137T>G c.(136-138)aTg>aGg p.M46R NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 46 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAACGTCTCATGCTGAAGGC 0.572000 33 21 0 0 0.011902 0 0 FCAR 2204 broad.mit.edu 37 19 55396680 55396680 + Nonsense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:55396680C>A ENST00000355524.3 + 3 114 c.104C>A c.(103-105)tCg>tAg p.S35* FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23* NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 35 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.S35L(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCTGCCAAATCGAGTCCTGTG 0.498000 22 34 3.62473e-10 4.71635e-10 0.012319 1 0 HMCN1 83872 broad.mit.edu 37 1 185946936 185946936 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:185946936C>T ENST00000271588.4 + 16 2618 c.2389C>T c.(2389-2391)Caa>Taa p.Q797* HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 797 Ig-like C2-type 5. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGTTTTCATACAAGAACCTGC 0.343000 49 61 0 0 0.014410 0 0 KANSL1L 151050 broad.mit.edu 37 2 210893657 210893657 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:210893657A>C ENST00000281772.9 - 11 2571 c.2308T>G c.(2308-2310)Tat>Gat p.Y770D KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 770 TCTATGTCATAAGAGCTCTCA 0.368000 45 65 0 0 0.013114 0 0 PGM5 5239 broad.mit.edu 37 9 71098829 71098829 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:71098829G>T ENST00000396396.1 + 9 1573 c.1344G>T c.(1342-1344)agG>agT p.R448S NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 448 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ATATCATGAGGGACCTGGAGG 0.507000 29 57 7.38237e-10 9.53202e-10 0.006320 1 0 ENPP3 5169 broad.mit.edu 37 6 132061454 132061454 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:132061454C>T ENST00000414305.1 + 25 2719 c.2391C>T c.(2389-2391)tgC>tgT p.C797C ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 797 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CGGAAAACTGCCCTGGGTGGC 0.512000 31 50 0 0 0.010818 0 0 HRH4 59340 broad.mit.edu 37 18 22056718 22056718 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr18:22056718A>T ENST00000256906.4 + 3 465 c.365A>T c.(364-366)tAt>tTt p.Y122F HRH4_ENST00000426880.2_Intron NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 122 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TAGGTGTCTTATAGAACTCAA 0.378000 7 42 0 0 0.001984 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718609 140718609 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:140718609G>T ENST00000394576.2 + 1 71 c.71G>T c.(70-72)tGg>tTg p.W24L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGACCCTGTGGGAGGCCAGG 0.577000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 42 1.67942e-08 2.12768e-08 0.006122 1 0 ROS1 6098 broad.mit.edu 37 6 117709005 117709005 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:117709005G>A ENST00000368508.3 - 13 2150 c.1952C>T c.(1951-1953)gCa>gTa p.A651V GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 651 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGGAGAACTTGCTCTCACAGA 0.488000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 50 70 0 0 0.014410 0 0 OR52L1 338751 broad.mit.edu 37 11 6007529 6007529 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:6007529G>T ENST00000332249.4 - 1 686 c.632C>A c.(631-633)aCa>aAa p.T211K NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGATTGACTGTGGTTTCTGA 0.493000 55 99 5.22555e-25 8.07804e-25 0.014410 1 0 MYO18B 84700 broad.mit.edu 37 22 26242186 26242186 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr22:26242186C>A ENST00000335473.7 + 19 3738 c.3488C>A c.(3487-3489)aCc>aAc p.T1163N MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N|MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1163 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGAGGAGGACCTTTGCCAGC 0.667000 27 36 1.04121e-07 1.30929e-07 0.005443 1 0 DMD 1756 broad.mit.edu 37 X 32404497 32404497 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:32404497G>T ENST00000357033.4 - 33 4810 c.4604C>A c.(4603-4605)aCg>aAg p.T1535K DMD_ENST00000378677.2_Missense_Mutation_p.T1531K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1535 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGGATTTTCCGTCTGCTTTTT 0.383000 49 13 2.43139e-17 3.50162e-17 0.014410 1 0 MTMR11 10903 broad.mit.edu 37 1 149905389 149905389 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:149905389C>T ENST00000439741.2 - 10 1145 c.895G>A c.(895-897)Gat>Aat p.D299N MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 299 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AGGACAACATCTGAATGCCCA 0.547000 31 105 0 0 0.012213 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 52 0 0 0.000602 0 0 ZNF112 7665 broad.mit.edu 37 19 44832694 44832694 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:44832694C>G ENST00000354340.4 - 4 1667 c.1616G>C c.(1615-1617)aGa>aCa p.R539T ZNF112_ENST00000337401.4_Missense_Mutation_p.R545T|ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T NM_013380.3 NP_037512.3 zinc finger protein 112 TGTGTGGACTCTCTGATGAAC 0.423000 61 101 0 0 0.014410 0 0 CPS1 1373 broad.mit.edu 37 2 211473158 211473158 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:211473158G>A ENST00000233072.5 + 19 2462 c.2266G>A c.(2266-2268)Ggg>Agg p.G756R CPS1_ENST00000430249.2_Missense_Mutation_p.G762R|CPS1_ENST00000451903.2_Missense_Mutation_p.G305R NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 756 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CGTCGTATCCGGGAAGACATC 0.433000 76 85 0 0 0.014410 0 0 AKAP13 11214 broad.mit.edu 37 15 86124699 86124699 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:86124699G>A ENST00000394518.2 + 7 3495 c.3400G>A c.(3400-3402)Gtg>Atg p.V1134M AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1134 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AGGTTTGCCAGTGGCTCTACA 0.507000 64 19 0 0 0.014410 0 0 FBN1 2200 broad.mit.edu 37 15 48818391 48818391 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:48818391G>A ENST00000316623.5 - 9 1379 c.924C>T c.(922-924)gtC>gtT p.V308V NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 308 EGF-like 5; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGTAACTGCTGACTGTGTTTG 0.403000 50 11 0 0 0.014410 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473030 22473030 + RNA SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:22473030G>T ENST00000557788.2 - 0 240 TTGAGGGACGGGTTGTAGTTG 0.567000 65 159 6.20203e-27 9.67632e-27 0.014410 1 0 GIN1 54826 broad.mit.edu 37 5 102423676 102423676 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:102423676C>A ENST00000399004.2 - 8 1589 c.1495G>T c.(1495-1497)Gat>Tat p.D499Y GIN1_ENST00000508629.1_3'UTR NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 499 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) GAACTATGATCGTCTATCAAT 0.318000 33 53 3.80469e-20 5.72403e-20 0.009535 1 0 PABPC4 8761 broad.mit.edu 37 1 40030930 40030930 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:40030930C>A ENST00000372857.3 - 8 1885 c.1093G>T c.(1093-1095)Gtt>Ttt p.V365F PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 365 RRM 4. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCCAGGGCAACATATAGTGGC 0.507000 30 17 8.4185e-14 1.15327e-13 0.012213 1 0 ZDBF2 57683 broad.mit.edu 37 2 207170044 207170044 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:207170044G>C ENST00000374423.3 + 5 1178 c.792G>C c.(790-792)atG>atC p.M264I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 264 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CTTTACGCATGAATTCAGATA 0.388000 30 25 0 0 0.008361 0 0 GRIA4 2893 broad.mit.edu 37 11 105789531 105789531 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr11:105789531G>C ENST00000393127.2 + 11 1809 c.1363G>C c.(1363-1365)Gca>Cca p.A455P GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 455 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATCTGAAATTGCAAAACATAT 0.353000 13 5 0 0 0.013537 0 0 CSMD3 114788 broad.mit.edu 37 8 113697930 113697930 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:113697930C>A ENST00000297405.5 - 15 2431 c.2187G>T c.(2185-2187)atG>atT p.M729I CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 729 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAACTGTTCCCATTGGTGCAG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 64 1.74197e-06 2.12697e-06 0.006320 1 0 DUS3L 56931 broad.mit.edu 37 19 5786796 5786796 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:5786796C>T ENST00000309061.7 - 9 1546 c.1450G>A c.(1450-1452)Gag>Aag p.E484K DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 484 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TGCACGCACTCCTCGATGTAC 0.667000 19 33 0 0 0.014323 0 0 MRPL39 54148 broad.mit.edu 37 21 26960033 26960033 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr21:26960033G>A ENST00000307301.7 - 10 1079 c.1038C>T c.(1036-1038)ctC>ctT p.L346L MRPL39_ENST00000352957.4_Intron NM_080794.3 NP_542984.2 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 0 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 TTCCATGGAGGAGGTACGACT 0.348000 15 38 0 0 0.003163 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658323 144658323 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:144658323C>A ENST00000449291.2 - 8 1326 c.1032G>T c.(1030-1032)gtG>gtT p.V344V NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000426292.3_Silent_p.V344V|NAPRT1_ENST00000276844.7_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 344 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAGCCAGGGCACCTGGAACC 0.667000 20 34 7.41877e-09 9.50618e-09 0.012319 1 0 MAST4 375449 broad.mit.edu 37 5 66429471 66429471 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:66429471A>G ENST00000404260.3 + 17 2540 c.2232A>G c.(2230-2232)aaA>aaG p.K744K MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000261569.7_Silent_p.K547K|MAST4_ENST00000403625.2_Silent_p.K741K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 744 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCCTGGATAAACAGGTAAGCT 0.408000 21 37 0 0 0.010504 0 0 ZNF233 353355 broad.mit.edu 37 19 44778658 44778658 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:44778658G>T ENST00000391958.2 + 5 1972 c.1845G>T c.(1843-1845)acG>acT p.T615T ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GGATCCACACGGGAGAGAAAC 0.438000 38 56 1.06647e-15 1.51646e-15 0.003755 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459000 45459000 + RNA SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:45459000C>T ENST00000548424.1 + 0 448 AGTCAGTCCTCTCCCACTTTT 0.448000 10 17 0 0 0.006214 0 0 IRF8 3394 broad.mit.edu 37 16 85946795 85946795 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:85946795G>T ENST00000268638.5 + 5 928 c.506G>T c.(505-507)tGt>tTt p.C169F NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 169 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CCGGAGGCCTGTCGGAGTCAG 0.617000 48 88 6.17242e-35 1.00488e-34 0.014410 1 0 UBBP4 23666 broad.mit.edu 37 17 21731491 21731491 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:21731491C>A ENST00000578713.1 + 2 570 c.566C>A c.(565-567)cCc>cAc p.P189H UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GAAGGCATCCCCCCCGATCAG 0.537000 21 37 2.37509e-13 3.24051e-13 0.010504 1 0 LAMA1 284217 broad.mit.edu 37 18 7079974 7079974 + Splice_Site SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr18:7079974C>G ENST00000389658.3 - 3 438 c.345_splice c.e3+1 p.Q115_splice RP11-76K13.3_ENST00000581502.1_RNA NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 115 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCACCTACCTGTCTTAAGT 0.468000 9 59 0 0 0.004482 0 0 ABCD2 225 broad.mit.edu 37 12 39947723 39947723 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:39947723C>G ENST00000308666.3 - 10 2349 c.2214G>C c.(2212-2214)gaG>gaC p.E738D NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 738 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 ATTAAGATGTCTCATCTTCAT 0.323000 4 7 0 0 0.009096 0 0 NPAP1 23742 broad.mit.edu 37 15 24923926 24923926 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:24923926C>G ENST00000329468.2 + 1 3386 c.2912C>G c.(2911-2913)gCt>gGt p.A971G NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AATGCAAGTGCTTTCCCCAAT 0.483000 28 16 0 0 0.005443 0 0 PLEC 5339 broad.mit.edu 37 8 145016653 145016653 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr8:145016653G>T ENST00000357649.2 - 1 39 c.31C>A c.(31-33)Ccg>Acg p.P11T PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000356346.3_Intron NM_201383.1 NP_958785.1 Q15149 PLEC_HUMAN plectin 0 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACCTCCCTCGGCGAGGCAAAG 0.756000 23 13 4.54149e-19 6.74221e-19 0.014323 1 0 RYR2 6262 broad.mit.edu 37 1 237660034 237660034 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:237660034G>C ENST00000366574.2 + 20 2502 c.2185G>C c.(2185-2187)Ggc>Cgc p.G729R RYR2_ENST00000360064.6_Missense_Mutation_p.G727R|RYR2_ENST00000542537.1_Missense_Mutation_p.G713R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 729 B30.2/SPRY 1. 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) TGGATTTGATGGCCTTCATCT 0.493000 65 188 0 0 0.014410 0 0 PANK3 79646 broad.mit.edu 37 5 168006280 168006280 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr5:168006280G>A ENST00000239231.6 - 1 325 c.9C>T c.(7-9)atC>atT p.I3I NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 3 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TGGCATCTTTGATCTTCATGG 0.706000 6 9 0 0 0.001984 0 0 LUM 4060 broad.mit.edu 37 12 91502199 91502199 + Silent SNP G G C rs144214151 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:91502199G>C ENST00000266718.4 - 2 1012 c.558C>G c.(556-558)ctC>ctG p.L186L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 186 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CAAGGTATTCGAGTGATTTAA 0.433000 40 12 0 0 0.006230 0 0 CYFIP1 23191 broad.mit.edu 37 15 22956494 22956494 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr15:22956494G>C ENST00000313077.7 + 16 1856 c.1731G>C c.(1729-1731)aaG>aaC p.K577N CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 577 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GTGGTTCCAAGAAAACCTTGA 0.408000 32 15 0 0 0.009535 0 0 THRA 7067 broad.mit.edu 37 17 38249328 38249328 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr17:38249328C>A ENST00000264637.4 + 10 1746 c.1166C>A c.(1165-1167)cCg>cAg p.P389Q NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|THRA_ENST00000584985.1_Intron NM_003250.5 NP_003241.2 P10827 THA_HUMAN thyroid hormone receptor, alpha 389 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GAAGGCCGGCCGGGCGGGTCA 0.552000 31 57 4.4194e-11 5.84054e-11 0.013726 1 0 PDE10A 10846 broad.mit.edu 37 6 165957010 165957010 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr6:165957010C>A ENST00000366882.1 - 3 238 c.84G>T c.(82-84)caG>caT p.Q28H PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H Q9Y233 PDE10_HUMAN phosphodiesterase 10A 28 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.Q28fs*5(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CATCTAATACCTGGGGGTGAA 0.358000 18 28 5.03518e-11 6.62835e-11 0.007413 1 0 CAPN6 827 broad.mit.edu 37 X 110491846 110491846 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrX:110491846T>G ENST00000324068.1 - 10 1602 c.1435A>C c.(1435-1437)Acc>Ccc p.T479P CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 479 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AACTCGCTGGTGCGACCATGC 0.502000 15 4 0 0 0.004007 0 0 MET 4233 broad.mit.edu 37 7 116339752 116339752 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr7:116339752A>G ENST00000397752.3 + 2 814 c.614A>G c.(613-615)tAt>tGt p.Y205C MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 205 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AATTCTTCTTATTTCCCAGAT 0.418000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 67 89 0 0 0.014410 0 0 NUDT9 53343 broad.mit.edu 37 4 88344060 88344060 + Translation_Start_Site SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr4:88344060G>A ENST00000302174.4 + 1 327 c.3G>A c.(1-3)atG>atA p.M1I NUDT9_ENST00000473942.1_Intron NM_024047.4 NP_076952.1 Q9BW91 NUDT9_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 9 1 mitochondrion ADP-ribose diphosphatase activity endometrium(1)|large_intestine(4)|lung(6) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) GGGCGCTCATGGCGGGACGCC 0.672000 32 52 0 0 0.009535 0 0 TNR 7143 broad.mit.edu 37 1 175362961 175362962 + Frame_Shift_Ins INS - - A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:175362961_175362962insA ENST00000367674.1 - 6 2018_2019 c.1310_1311insT c.(1309-1311)cttfs p.L437fs TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 437 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AAAATGAGAAGGGCTCCCACTG 0.455 164 157 --- --- --- --- CRB1 23418 broad.mit.edu 37 1 197390341 197390355 + In_Frame_Del DEL AGATGGCCAGCATGG AGATGGCCAGCATGG - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:197390341_197390355delAGATGGCCAGCATGG ENST00000367400.3 + 6 1518_1532 c.1383_1397delAGATGGCCAGCATGG c.(1381-1398)caa>ca p.QDGQHG461del CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 461 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC 0.484 19 62 --- --- --- --- FSIP2 401024 broad.mit.edu 37 2 186670222 186670223 + Frame_Shift_Ins INS - - T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:186670222_186670223insT ENST00000343098.5 + 17 16456_16457 c.16456_16457insT c.(16456-16458)tttfs p.F5486fs FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GATTCAACCACTTTTTTCAGGA 0.381 23 83 --- --- --- --- PTPRN 5798 broad.mit.edu 37 2 220164922 220164922 + Frame_Shift_Del DEL G G - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:220164922delG ENST00000295718.2 - 9 1461 c.1221delC c.(1219-1221)ccfs p.P407fs PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 407 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTCCAGGCATGGGGGATGTGC 0.632 58 29 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:178916938_178916940delGAA ENST00000263967.3 + 2 482_484 c.325_327delGAA c.(325-327)del p.E110del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 110 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E109del(3)|p.G106_R108del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGCAACCGTGAAGAAAAGATCC 0.340 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 29 90 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135203353 135203376 + In_Frame_Del DEL CGTGAATTGGGAGTTGAAGTCCTT CGTGAATTGGGAGTTGAAGTCCTT - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT ENST00000372169.2 - 10 3791_3814 c.3609_3632delAAGGACTTCAACTCCCAATTCACG c.(3607-3633)agt>ag p.RRTSTPNSR1203del SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del Q7Z333 SETX_HUMAN senataxin 1203 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC 0.402 16 70 --- --- --- --- FGF23 8074 broad.mit.edu 37 12 4479740 4479740 + Frame_Shift_Del DEL C C - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:4479740delC ENST00000237837.1 - 3 670 c.525delG c.(523-525)cgfs p.R176fs NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 176 R -> Q (in ADHR; partially resistant to cleavage by furin). cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GGGTGTGCCGCCGTGGTATGG 0.672 31 42 --- --- --- --- ITPRIPL2 162073 broad.mit.edu 37 16 19127024 19127026 + In_Frame_Del DEL TGC TGC - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:19127024_19127026delTGC ENST00000381440.3 + 1 1771_1773 c.1241_1243delTGC c.(1240-1245)gtg>g p.VL414del CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 414 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CTGCTGGCAGTGCTGCTGCGCAA 0.655 83 140 --- --- --- --- NANOS3 342977 broad.mit.edu 37 19 13988559 13988561 + In_Frame_Del DEL GAG GAG - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:13988559_13988561delGAG ENST00000397555.2 + 2 440_442 c.440_442delGAG c.(439-444)cga>c p.RG147del NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 147 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding p.G171delG(1) breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGCCACCGCCGAGGAGGAGGAGG 0.645 3 4 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:39330958_39330959insG ENST00000221419.5 - 8 1376_1377 c.1010_1011insC c.(1009-1011)cccfs p.P337fs HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 337 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CGTAGTGAGGTGGGGGGGGCCC 0.668 10 21 --- --- --- --- DAZ2 57055 broad.mit.edu 37 Y 25375814 25375815 + Splice_Site DEL CA CA - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrY:25375814_25375815delCA ENST00000382440.1 + 7 834_835 c.570_splice c.e7+1 p.Q190_splice DAZ2_ENST00000382449.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000382294.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382434.3_Splice_Site_p.Q190_splice|DAZ2_ENST00000382306.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000400493.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382424.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382431.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382433.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000449947.1_Splice_Site_p.Q190_splice Q13117 DAZ2_HUMAN deleted in azoospermia 2 190 DAZ-like 1. cell differentiation|multicellular organismal development|single fertilization|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding ATATAATTATCAGGTAATTGAA 0.356 2 4 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175362961 175362962 + Frame_Shift_Ins INS - - A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:175362961_175362962insA ENST00000367674.1 - 6 2018_2019 c.1310_1311insT c.(1309-1311)cttfs p.L437fs TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 437 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AAAATGAGAAGGGCTCCCACTG 0.455 164 157 --- --- --- --- CRB1 23418 broad.mit.edu 37 1 197390341 197390355 + In_Frame_Del DEL AGATGGCCAGCATGG AGATGGCCAGCATGG - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr1:197390341_197390355delAGATGGCCAGCATGG ENST00000367400.3 + 6 1518_1532 c.1383_1397delAGATGGCCAGCATGG c.(1381-1398)caa>ca p.QDGQHG461del CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 461 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC 0.484 19 62 --- --- --- --- FSIP2 401024 broad.mit.edu 37 2 186670222 186670223 + Frame_Shift_Ins INS - - T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:186670222_186670223insT ENST00000343098.5 + 17 16456_16457 c.16456_16457insT c.(16456-16458)tttfs p.F5486fs FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GATTCAACCACTTTTTTCAGGA 0.381 23 83 --- --- --- --- PTPRN 5798 broad.mit.edu 37 2 220164922 220164922 + Frame_Shift_Del DEL G G - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr2:220164922delG ENST00000295718.2 - 9 1461 c.1221delC c.(1219-1221)ccfs p.P407fs PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 407 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTCCAGGCATGGGGGATGTGC 0.632 58 29 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr3:178916938_178916940delGAA ENST00000263967.3 + 2 482_484 c.325_327delGAA c.(325-327)del p.E110del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 110 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E109del(3)|p.G106_R108del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGCAACCGTGAAGAAAAGATCC 0.340 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 29 90 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135203353 135203376 + In_Frame_Del DEL CGTGAATTGGGAGTTGAAGTCCTT CGTGAATTGGGAGTTGAAGTCCTT - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT ENST00000372169.2 - 10 3791_3814 c.3609_3632delAAGGACTTCAACTCCCAATTCACG c.(3607-3633)agt>ag p.RRTSTPNSR1203del SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del Q7Z333 SETX_HUMAN senataxin 1203 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC 0.402 16 70 --- --- --- --- FGF23 8074 broad.mit.edu 37 12 4479740 4479740 + Frame_Shift_Del DEL C C - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr12:4479740delC ENST00000237837.1 - 3 670 c.525delG c.(523-525)cgfs p.R176fs NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 176 R -> Q (in ADHR; partially resistant to cleavage by furin). cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GGGTGTGCCGCCGTGGTATGG 0.672 31 42 --- --- --- --- ITPRIPL2 162073 broad.mit.edu 37 16 19127024 19127026 + In_Frame_Del DEL TGC TGC - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr16:19127024_19127026delTGC ENST00000381440.3 + 1 1771_1773 c.1241_1243delTGC c.(1240-1245)gtg>g p.VL414del CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 414 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CTGCTGGCAGTGCTGCTGCGCAA 0.655 83 140 --- --- --- --- NANOS3 342977 broad.mit.edu 37 19 13988559 13988561 + In_Frame_Del DEL GAG GAG - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:13988559_13988561delGAG ENST00000397555.2 + 2 440_442 c.440_442delGAG c.(439-444)cga>c p.RG147del NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 147 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding p.G171delG(1) breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGCCACCGCCGAGGAGGAGGAGG 0.645 3 4 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chr19:39330958_39330959insG ENST00000221419.5 - 8 1376_1377 c.1010_1011insC c.(1009-1011)cccfs p.P337fs HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 337 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CGTAGTGAGGTGGGGGGGGCCC 0.668 10 21 --- --- --- --- DAZ2 57055 broad.mit.edu 37 Y 25375814 25375815 + Splice_Site DEL CA CA - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc0ebce-5ba2-4c18-b594-50b33ef6d116 2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01 g.chrY:25375814_25375815delCA ENST00000382440.1 + 7 834_835 c.570_splice c.e7+1 p.Q190_splice DAZ2_ENST00000382449.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000449947.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000382434.3_Splice_Site_p.Q190_splice|DAZ2_ENST00000382294.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000400493.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382306.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382424.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382431.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382433.4_Splice_Site_p.Q190_splice Q13117 DAZ2_HUMAN deleted in azoospermia 2 190 DAZ-like 1. cell differentiation|multicellular organismal development|single fertilization|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding ATATAATTATCAGGTAATTGAA 0.356 2 4 --- --- --- ---