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 CYP4Z2P 0 broad.mit.edu 37 1 47364570 47364570 + RNA SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr1:47364570C>T ENST00000505841.1 - 0 266 NR_002788.2 TGAAGAACATCGTAAAGGGTC 0.433000 14 52 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118169991 118169991 + Silent SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr8:118169991C>T ENST00000427715.2 + 7 767 c.333C>T c.(331-333)taC>taT p.Y111Y SLC30A8_ENST00000521243.1_Silent_p.Y111Y|SLC30A8_ENST00000519688.1_Silent_p.Y111Y|SLC30A8_ENST00000456015.2_Silent_p.Y160Y NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 160 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TGCTAGTGTACCTGGCATGTG 0.527000 5 230 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160099088 160099088 + Silent SNP T T C TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr1:160099088T>C ENST00000361216.3 + 11 1448 c.1359T>C c.(1357-1359)gcT>gcC p.A453A ATP1A2_ENST00000392233.3_Silent_p.A453A|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 453 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTGAGTCAGCTCTGCTCAAGT 0.532000 29 223 0 0 1 0 0 SPIB 6689 broad.mit.edu 37 19 50926944 50926944 + Missense_Mutation SNP T T G TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:50926944T>G ENST00000595883.1 + 5 447 c.422T>G c.(421-423)cTg>cGg p.L141R SPIB_ENST00000270632.7_Missense_Mutation_p.L141R|SPIB_ENST00000439922.2_Missense_Mutation_p.L50R|SPIB_ENST00000596074.1_Silent_p.P69P|SPIB_ENST00000597855.1_Silent_p.P129P NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 141 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) AGCCCTGCCCTGGAGGTCTCG 0.667000 13 24 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1484421 1484421 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr7:1484421C>T ENST00000297508.7 - 6 1460 c.1285G>A c.(1285-1287)Ggc>Agc p.G429S MICALL2_ENST00000405088.4_Missense_Mutation_p.G217S NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 429 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) AGGCTGGTGCCGGGGGGCACT 0.632000 5 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179393601 179393601 + Nonsense_Mutation SNP A A C TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr2:179393601A>C ENST00000589042.1 - 360 107101 c.106877T>G c.(106876-106878)tTa>tGa p.L35626* TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L33058*|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L26753*|TTN_ENST00000359218.5_Nonsense_Mutation_p.L26686*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.L33985*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.L26561*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33985 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) GTTGGCTTTTAAAACCAGTCT 0.433000 10 21 0 0 1 0 0 PLAA 9373 broad.mit.edu 37 9 26926460 26926460 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr9:26926460C>T ENST00000397292.3 - 5 1081 c.664G>A c.(664-666)Gag>Aag p.E222K PLAA_ENST00000520884.1_Missense_Mutation_p.E222K NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 222 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) TCAAGACACTCGCCAGTGATT 0.328000 31 45 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140229523 140229523 + Silent SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr5:140229523C>T ENST00000378122.3 + 1 2167 c.1443C>T c.(1441-1443)gaC>gaT p.D481D PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.D481D|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGCGGGACGCTGACGCGC 0.657000 34 82 0 0 1 0 0 CTD-2666L21.1 0 broad.mit.edu 37 19 12318385 12318385 + RNA SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:12318385G>A ENST00000426044.1 + 0 127 CATGGTGACAGCTAATTAGAT 0.343000 3 8 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85962835 85962835 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr10:85962835G>A ENST00000372117.3 + 8 842 c.739G>A c.(739-741)Gtg>Atg p.V247M CDHR1_ENST00000440770.2_Missense_Mutation_p.V6M|CDHR1_ENST00000332904.3_Missense_Mutation_p.V247M NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 247 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CCCTGTCTTCGTGGGCACACC 0.617000 13 107 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29624093 29624093 + Splice_Site SNP G G T rs75468660 TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr20:29624093G>T ENST00000278882.3 + 4 496 c.e4+1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site p.?(6) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGATTCCAGGTGAGCTTATG 0.299000 4 23 0.00116845 0.00120614 1 1 0 GNB1L 0 broad.mit.edu 37 22 19789726 19789726 + Missense_Mutation SNP G G T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr22:19789726G>T ENST00000329517.6 - 7 766 c.530C>A c.(529-531)tCc>tAc p.S177Y GNB1L_ENST00000405009.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000403325.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000460402.1_5'UTR NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 177 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) GAGTGGGCGGGAGCTGCAGTC 0.637000 14 65 1.05317e-09 1.16212e-09 1 1 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 6 91 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158618311 158618311 + Silent SNP G G T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr1:158618311G>T ENST00000368148.3 - 26 3882 c.3702C>A c.(3700-3702)ccC>ccA p.P1234P SPTA1_ENST00000368147.3_Silent_p.P1234P NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1234 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TATCTCCCAGGGGTACGAGGT 0.493000 43 71 6.1244e-12 6.87652e-12 1 1 0 EYS 346007 broad.mit.edu 37 6 66205285 66205285 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:66205285C>T ENST00000503581.1 - 4 556 c.19G>A c.(19-21)Gtc>Atc p.V7I EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000370621.3_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 7 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CTCAGAATGACGATTGATTTG 0.368000 14 39 0 0 1 0 0 ABTB1 80325 broad.mit.edu 37 3 127399141 127399141 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr3:127399141G>A ENST00000468137.1 + 11 1450 c.834G>A c.(832-834)gcG>gcA p.A278A ABTB1_ENST00000453791.2_Silent_p.A278A|ABTB1_ENST00000393363.3_Silent_p.A278A|ABTB1_ENST00000232744.8_Silent_p.A420A Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 420 BTB 2. cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 TCGTGGAGGCGGTGAAGGAGG 0.672000 10 28 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122662580 122662580 + Nonsense_Mutation SNP G G T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr10:122662580G>T ENST00000263461.6 + 23 3013 c.2767G>T c.(2767-2769)Gaa>Taa p.E923* WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 923 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 CTATGGTGATGAATCGGAGCT 0.542000 8 44 0.000274275 0.000287764 1 1 0 CCND3 896 broad.mit.edu 37 6 41908118 41908118 + Missense_Mutation SNP C C A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:41908118C>A ENST00000511642.1 - 2 912 c.161G>T c.(160-162)cGc>cTc p.R54L CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.R85L|CCND3_ENST00000510503.1_Missense_Mutation_p.R54L|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.R54L|CCND3_ENST00000372991.4_Missense_Mutation_p.R135L P30281 CCND3_HUMAN cyclin D3 135 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCGCAACTGGCGGGGAGAGAC 0.597000 T IGH@ MM 52 68 4.32865e-36 4.94703e-36 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 6 210 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95909521 95909521 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr14:95909521C>T ENST00000334258.5 - 10 1896 c.1882G>A c.(1882-1884)Gac>Aac p.D628N SYNE3_ENST00000554873.1_Missense_Mutation_p.D385N|SYNE3_ENST00000557275.1_Missense_Mutation_p.D628N NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GCCTGGAAGTCGGAGGAAAGC 0.627000 15 27 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964976 88964976 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr7:88964976G>A ENST00000333190.4 + 4 3289 c.2680G>A c.(2680-2682)Ggg>Agg p.G894R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 894 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) GTGTAACTCCGGGAATATCAG 0.438000 HNSCC(36;0.09) 39 71 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88173768 88173768 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:88173768G>A ENST00000507897.1 + 13 1752 c.1669G>A c.(1669-1671)Gta>Ata p.V557I C6ORF165_ENST00000369562.4_Missense_Mutation_p.V557I|C6orf165_ENST00000506888.1_3'UTR Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 557 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TACTCACTCAGTACAAACTGA 0.388000 23 34 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400029 139400029 + Missense_Mutation SNP A A G TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr9:139400029A>G ENST00000277541.6 - 25 4394 c.4319T>C c.(4318-4320)aTc>aCc p.I1440T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1440 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGGCGGGGGGATGTCGCGCCC 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 28 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94054885 94054885 + Missense_Mutation SNP T T G TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr1:94054885T>G ENST00000370244.1 - 7 866 c.578A>C c.(577-579)aAg>aCg p.K193T BCAR3_ENST00000370243.1_Missense_Mutation_p.K193T|BCAR3_ENST00000260502.6_Missense_Mutation_p.K193T|BCAR3_ENST00000370247.3_Missense_Mutation_p.K102T NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 193 SH2. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) AGCGAGGTTCTTCCACTGACA 0.547000 4 52 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45307636 45307636 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr1:45307636C>T ENST00000447098.2 - 2 159 c.148G>A c.(148-150)Ggg>Agg p.G50R PTCH2_ENST00000372192.3_Missense_Mutation_p.G50R NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 50 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CTCTGGATCCCGCATCCCAGA 0.552000 Basal Cell Nevus syndrome 85 90 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32818263 32818263 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr13:32818263G>A ENST00000380250.3 + 47 7268 c.6772G>A c.(6772-6774)Gtt>Att p.V2258I NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2258 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTTTCTGTCGTTCCTGTCAA 0.473000 13 49 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117868410 117868410 + Missense_Mutation SNP A A T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr8:117868410A>T ENST00000297338.2 - 8 1219 c.932T>A c.(931-933)aTa>aAa p.I311K NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 311 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CTTACCAGTTATATCAATAGG 0.388000 45 73 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362814 36362814 + Silent SNP C C T rs148987065 TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:36362814C>T ENST00000221891.4 + 6 918 c.726C>T c.(724-726)gaC>gaT p.D242D APLP1_ENST00000586861.1_Silent_p.D236D|APLP1_ENST00000537454.2_Silent_p.D203D NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 242 Poly-Glu. apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCTGAGGACGAGGAAGAGG 0.637000 69 109 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76740974 76740974 + Missense_Mutation SNP A A C TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr12:76740974A>C ENST00000393262.3 - 2 874 c.791T>G c.(790-792)aTt>aGt p.I264S NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 264 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 AAGAGGCTGAATGGTTTCTGT 0.393000 Bardet-Biedl syndrome 5 34 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21083999 21083999 + Splice_Site SNP C C A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr22:21083999C>A ENST00000255882.6 - 38 4495 c.4408_splice c.e38-1 p.G1470_splice PI4KA_ENST00000414196.3_Splice_Site_p.G222_splice|PI4KA_ENST00000572273.1_Splice_Site_p.G1412_splice NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1412 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTTAGACATGCCTAGGAGGAA 0.537000 4 6 4.096e-09 4.44312e-09 1 1 0 ZNF432 9668 broad.mit.edu 37 19 52537922 52537922 + Missense_Mutation SNP C C A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:52537922C>A ENST00000594154.1 - 5 1222 c.1010G>T c.(1009-1011)cGa>cTa p.R337L ZNF432_ENST00000221315.5_Missense_Mutation_p.R337L O94892 ZN432_HUMAN zinc finger protein 432 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGTATGAGTTCGCTGATGTAT 0.408000 4 124 0.150653 0.150653 1 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798207 55798207 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr11:55798207G>A ENST00000313555.1 + 1 313 c.313G>A c.(313-315)Gct>Act p.A105T NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A105T(1) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTTTTTCTTCGCTTCTTTTGC 0.463000 16 35 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68105709 68105709 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr8:68105709G>A ENST00000262210.5 + 28 3357 c.3326G>A c.(3325-3327)cGt>cAt p.R1109H CSPP1_ENST00000412460.1_Missense_Mutation_p.R764H|CSPP1_ENST00000521168.1_Intron|ARFGEF1_ENST00000520381.1_Intron NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1144 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GATAGCAGTCGTCCTAATGTA 0.403000 8 47 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28573785 28573785 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr8:28573785G>A ENST00000220562.4 + 3 1111 c.209G>A c.(208-210)gGg>gAg p.G70E EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 70 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCCCGGGTGGGGAACGAGCTG 0.597000 24 16 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39250208 39250208 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr2:39250208C>T ENST00000426016.1 - 11 1447 c.1361G>A c.(1360-1362)gGa>gAa p.G454E SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.G454E|SOS1_ENST00000402219.2_Missense_Mutation_p.G454E Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 454 PH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATGTTTGGCTCCTACACGTGT 0.393000 Noonan syndrome 49 59 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726653 12726653 + Silent SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr1:12726653C>T ENST00000376221.1 + 4 1131 c.1131C>T c.(1129-1131)caC>caT p.H377H NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 377 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) ATGGTTTTCACGGATCCATTA 0.443000 34 75 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79842101 79842101 + Missense_Mutation SNP A A G TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr7:79842101A>G ENST00000351004.3 + 7 1163 c.790A>G c.(790-792)Att>Gtt p.I264V GNAI1_ENST00000457358.2_Missense_Mutation_p.I212V NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 264 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 AGATACATCCATTATACTTTT 0.323000 39 45 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 5 62 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40900013 40900013 + Missense_Mutation SNP T T C TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr7:40900013T>C ENST00000309930.5 + 15 1375 c.1351T>C c.(1351-1353)Tac>Cac p.Y451H C7orf10_ENST00000401647.2_Missense_Mutation_p.Y377H|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Missense_Mutation_p.Y425H NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 425 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 GGTCCTGAGATACGATGACAG 0.572000 6 181 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24717686 24717686 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr22:24717686G>A ENST00000314328.9 + 5 1023 c.738G>A c.(736-738)ttG>ttA p.L246L SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.L246L|KB-1896H10.1_ENST00000358654.2_Silent_p.L246L|SPECC1L_ENST00000437398.1_Silent_p.L246L NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 246 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TATTGCAGTTGCAGGAACAGA 0.433000 39 145 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167675119 167675119 + Missense_Mutation SNP C C T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr5:167675119C>T ENST00000519204.1 + 26 6930 c.6812C>T c.(6811-6813)aCg>aTg p.T2271M TENM2_ENST00000518659.1_Missense_Mutation_p.T2392M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2216M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2153M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2391M teneurin transmembrane protein 2 CTGCAGTACACGGCCTATGGG 0.532000 4 203 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 5 110 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728670 20728670 + Missense_Mutation SNP A A C TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:20728670A>C ENST00000427401.4 - 4 433 c.339T>G c.(337-339)ttT>ttG p.F113L NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 113 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AGCCCTTTTTAAACTGTAAAT 0.353000 4 120 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86329033 86329033 + Nonsense_Mutation SNP T T A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:86329033T>A ENST00000355238.6 - 9 1317 c.1111A>T c.(1111-1113)Aaa>Taa p.K371* SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.K371* NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 371 RRM 3. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GCATAATCTTTTAACTTCTTC 0.363000 5 97 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7680922 7680922 + Nonsense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr17:7680922G>A ENST00000572933.1 + 33 6677 c.5217G>A c.(5215-5217)tgG>tgA p.W1739* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1739 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTTTGACTGGCTCAGCCAAC 0.478000 5 422 0 0 1 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40822621 40822621 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr17:40822621G>A ENST00000293349.6 - 10 1945 c.1515C>T c.(1513-1515)gaC>gaT p.D505D PLEKHH3_ENST00000412503.1_Silent_p.D505D|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Silent_p.D508D Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 508 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GTTCGTGACCGTCTGGGGACA 0.627000 5 88 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52723057 52723057 + Silent SNP C C T rs139139629 byFrequency TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:52723057C>T ENST00000322088.6 + 10 1300 c.1242C>T c.(1240-1242)gaC>gaT p.D414D PPP2R1A_ENST00000462990.1_Silent_p.D235D|PPP2R1A_ENST00000444322.2_Silent_p.D359D NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 414 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGGCTGAGGACGCCAAGTGGC 0.627000 Mis clear cell ovarian carcinoma 23 46 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023246 18023246 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr17:18023246G>A ENST00000205890.5 + 2 1470 c.1132G>A c.(1132-1134)Gtc>Atc p.V378I NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 378 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCACTACACCGTCCCCTATGC 0.597000 47 99 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4836806 4836806 + Missense_Mutation SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr17:4836806G>A ENST00000329125.5 + 2 982 c.907G>A c.(907-909)Gat>Aat p.D303N NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 303 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CACTGAGGGCGATAAGGTGCG 0.527000 10 168 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85699758 85699758 + Silent SNP G G A rs146868524 TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr4:85699758G>A ENST00000322366.6 - 27 4823 c.4416C>T c.(4414-4416)atC>atT p.I1472I WDFY3_ENST00000295888.4_Silent_p.I1472I Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1472 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTAGATGGAGGATGTGGCTGT 0.388000 29 43 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28573786 28573786 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr8:28573786G>A ENST00000220562.4 + 3 1112 c.210G>A c.(208-210)ggG>ggA p.G70G EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 70 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCCGGGTGGGGAACGAGCTGT 0.597000 24 16 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 5 66 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 15 6.4e-05 6.82667e-05 1 1 0 HOXD12 3238 broad.mit.edu 37 2 176965063 176965063 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr2:176965063G>A ENST00000406506.2 + 1 606 c.534G>A c.(532-534)gcG>gcA p.A178A HOXD12_ENST00000404162.2_Silent_p.A178A P35452 HXD12_HUMAN homeobox D12 178 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CAGTGCAGGCGGCGGGCGTTG 0.687000 12 25 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154270986 154270986 + Silent SNP G G C TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr5:154270986G>C ENST00000285873.7 - 26 4152 c.4077C>G c.(4075-4077)ctC>ctG p.L1359L NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1359 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding p.L1359L(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTTCTGAAAAGAGCTCCTTAA 0.468000 8 158 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389698 20389698 + Silent SNP T T A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr14:20389698T>A ENST00000315915.4 + 1 958 c.933T>A c.(931-933)atT>atA p.I311I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAAGGAGAATTTCTGAAATGT 0.368000 36 44 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475032 217475032 + RNA DEL A A - rs71401156 TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr2:217475032delA ENST00000441803.1 + 0 195 ATTTTATTTCAAAAAAAAAAA 0.373 3 5 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42204105 42204106 + In_Frame_Ins INS - - TCC rs146190272 by1000genomes TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr6:42204105_42204106insTCC ENST00000541110.1 - 16 3531_3532 c.2963_2964insGGA c.(2962-2964)gcc>gGGAcc p.988_988A>GT TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 968 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTTCCGGGtcctcctcctc 0.530 4 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086381 20086382 + RNA INS - - T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr14:20086381_20086382insT ENST00000548261.1 + 0 135 GTCTTACAAGGTAAAAAAAATG 0.312 4 9 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71445025 71445026 + Frame_Shift_Del DEL AC AC - rs142489415 by1000genomes TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr14:71445025_71445026delAC ENST00000304743.2 + 6 2417_2418 c.1971_1972delAC c.(1969-1974)gaacfs p.EH657fs PCNX_ENST00000439984.3_Frame_Shift_Del_p.EH657fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.EH657fs NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 657 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGACTCTGAACACACACACAA 0.485 7 216 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 5 6 --- --- --- --- ARNT2 9915 broad.mit.edu 37 15 80873662 80873662 + Frame_Shift_Del DEL C C - TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr15:80873662delC ENST00000533983.1 + 18 2141 c.1802delC c.(1801-1803)tcfs p.S601fs ARNT2_ENST00000527771.1_Frame_Shift_Del_p.S601fs|ARNT2_ENST00000303329.4_Frame_Shift_Del_p.S612fs Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 612 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GACCCCTCTTCCTACAGCCCC 0.572 19 84 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49982166 49982166 + Splice_Site DEL C C - TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40596942-42c7-4514-8bf8-a5290015cfd8 03842b93-be03-4e34-a1c4-c29aa2f3a1ec g.chr19:49982166delC ENST00000595510.1 + 5 398 c.96_splice c.e5-1 p.P35_splice FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000204637.2_Splice_Site_p.P35_splice|FLT3LG_ENST00000594009.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000600429.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000344019.3_Splice_Site_p.P117_splice P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 117 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity p.S118fs*24(1) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTGCTCCCAGCCCCCCCCCAG 0.687 3 3 --- --- --- ---