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 DDX47 51202 broad.mit.edu 37 12 12974651 12974651 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr12:12974651A>G ENST00000358007.3 + 4 455 c.433A>G c.(433-435)Ata>Gta p.I145V RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.I145V NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 145 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) AAAACCACATATAATAATAGG 0.358000 12 42 0 0 0.479597 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125824617 125824617 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:125824617C>G ENST00000393434.2 - 22 2954 c.2605G>C c.(2605-2607)Gcc>Ccc p.A869P ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 869 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) AAGGGAGCGGCCACGTCGGTC 0.488000 40 125 0 0 0.870114 0 0 TNXB 7148 broad.mit.edu 37 6 32011583 32011583 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr6:32011583C>T ENST00000375244.3 - 35 11674 c.11473G>A c.(11473-11475)Gtg>Atg p.V3825M TNXB_ENST00000451343.1_Missense_Mutation_p.V254M|TNXB_ENST00000375247.2_Missense_Mutation_p.V3823M P22105 TENX_HUMAN tenascin XB 3870 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCGAGACCACGGTCACCTCA 0.627000 24 129 0 0 0.693898 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869994 151869994 + Missense_Mutation SNP A A C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chrX:151869994A>C ENST00000329342.5 + 3 909 c.684A>C c.(682-684)ttA>ttC p.L228F NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 228 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TGAGTGTGTTAGAGGTGTTTG 0.527000 14 140 0 0 0.575678 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 3 64 0 0 0.150653 0 0 AHSG 197 broad.mit.edu 37 3 186338454 186338454 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:186338454C>T ENST00000411641.2 + 7 1058 c.839C>T c.(838-840)tCc>tTc p.S280F AHSG_ENST00000273784.5_Missense_Mutation_p.S281F P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 280 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCACCTCCGTCCCCTCCACTT 0.627000 43 163 0 0 0.870114 0 0 KIF2B 84643 broad.mit.edu 37 17 51901055 51901055 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr17:51901055C>T ENST00000268919.4 + 1 817 c.661C>T c.(661-663)Cgg>Tgg p.R221W NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 221 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.R221W(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGTGAGGAAGCGGCCTCTCAA 0.547000 8 19 0 0 0.335167 0 0 CROCCP3 0 broad.mit.edu 37 1 16809784 16809784 + RNA SNP T T G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:16809784T>G ENST00000263511.4 - 0 2001 NR_023386.1 CCCGGCACCTTCTCAGGAGCT 0.632000 3 6 0 0 0.150653 0 0 SPTA1 6708 broad.mit.edu 37 1 158637824 158637824 + Missense_Mutation SNP T T A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:158637824T>A ENST00000368148.3 - 15 2042 c.1862A>T c.(1861-1863)cAa>cTa p.Q621L SPTA1_ENST00000368147.3_Missense_Mutation_p.Q621L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 621 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) TTGCTGCTTTTGAACCCTGCT 0.388000 4 189 0 0 0.184627 0 0 IRGQ 126298 broad.mit.edu 37 19 44096224 44096224 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:44096224C>T ENST00000422989.1 - 3 1981 c.1826G>A c.(1825-1827)cGg>cAg p.R609Q L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.R609Q|IRGQ_ENST00000601520.1_Intron NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 609 Ala-rich. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) AGCATCAGCCCGCATCTCATC 0.672000 4 145 0 0 0.184627 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596429 11596429 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:11596429G>A ENST00000294484.6 + 21 4003 c.3865G>A c.(3865-3867)Gtg>Atg p.V1289M PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1289M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R175H NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1289 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGTGCGGCACGTGGGCGTGGC 0.667000 19 36 0 0 0.557998 0 0 TCHH 7062 broad.mit.edu 37 1 152084627 152084627 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:152084627C>G ENST00000368804.1 - 2 1065 c.1066G>C c.(1066-1068)Gag>Cag p.E356Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 356 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L. keratinization cytoskeleton calcium ion binding p.E356Q(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ctctcctcctcctgctcgcgc 0.716000 5 71 0 0 0.248553 0 0 AP2M1 1173 broad.mit.edu 37 3 183901338 183901338 + Silent SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:183901338C>T ENST00000382456.3 + 11 1550 c.1236C>T c.(1234-1236)agC>agT p.S412S AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.S412S|AP2M1_ENST00000292807.5_Silent_p.S414S|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.S439S NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 414 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGAACTACAGCGACCATGATG 0.557000 16 51 0 0 0.557998 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846113 47846113 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr6:47846113C>T ENST00000339488.4 - 3 2500 c.2467G>A c.(2467-2469)Gcc>Acc p.A823T NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 823 integral to membrane hedgehog receptor activity TTTCGCTTGGCACGTTTCTTT 0.438000 26 67 0 0 0.717897 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 27 0 0 0.150653 0 0 STAG2 10735 broad.mit.edu 37 X 123179182 123179182 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chrX:123179182C>G ENST00000371160.1 + 8 921 c.631C>G c.(631-633)Caa>Gaa p.Q211E STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E Q8N3U4 STAG2_HUMAN stromal antigen 2 211 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GTCTGACTCACAAGTCAGAGC 0.353000 3 142 0 0 0.150653 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 37 0 0 0.248553 0 0 TTLL6 284076 broad.mit.edu 37 17 46863542 46863542 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr17:46863542G>A ENST00000393382.3 - 12 1886 c.1745C>T c.(1744-1746)aCc>aTc p.T582I TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 534 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGAGGCTTGGGTGGCGGCCTT 0.577000 13 530 0 0 0.457914 0 0 OR5F1 338674 broad.mit.edu 37 11 55761664 55761664 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr11:55761664G>A ENST00000278409.1 - 1 437 c.438C>T c.(436-438)gcC>gcT p.A146A NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CAAAAGCCCCGGCTGCCATTT 0.502000 12 27 0 0 0.479597 0 0 F8 2157 broad.mit.edu 37 X 154182174 154182174 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chrX:154182174G>A ENST00000360256.4 - 12 2096 c.1896C>T c.(1894-1896)atC>atT p.I632I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 632 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CACTGTGCATGATGTTGGAGG 0.433000 8 142 0 0 0.387290 0 0 PTPRK 5796 broad.mit.edu 37 6 128294293 128294293 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr6:128294293G>A ENST00000368227.3 - 30 4560 c.4194C>T c.(4192-4194)ggC>ggT p.G1398G PTPRK_ENST00000368215.3_Silent_p.G1380G|PTPRK_ENST00000368207.3_Silent_p.G1413G|PTPRK_ENST00000368210.3_Silent_p.G1399G|PTPRK_ENST00000368213.5_Silent_p.G1387G|PTPRK_ENST00000368226.4_Silent_p.G1381G|PTPRK_ENST00000532331.1_Silent_p.G1403G Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1380 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CACTTCGCCCGCCACCATTTC 0.428000 24 56 0 0 0.740014 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462138 50462138 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:50462138G>A ENST00000447370.2 - 7 1215 c.1125C>T c.(1123-1125)aaC>aaT p.N375N SIGLEC11_ENST00000426971.2_Silent_p.N375N NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 375 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GGGATGTGCCGTTCCCGAGGT 0.662000 3 45 0 0 0.150653 0 0 ZNF416 55659 broad.mit.edu 37 19 58084554 58084554 + Missense_Mutation SNP T T C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:58084554T>C ENST00000196489.3 - 4 940 c.718A>G c.(718-720)Agg>Ggg p.R240G NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TCATAAAGCCTTTTTCCAGTG 0.473000 4 196 0 0 0.150653 0 0 BUB1 699 broad.mit.edu 37 2 111416223 111416223 + Missense_Mutation SNP G G T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr2:111416223G>T ENST00000535254.1 - 11 1380 c.1313C>A c.(1312-1314)cCa>cAa p.P438Q BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 458 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGTGGGTGATGGCTGCACTTT 0.433000 4 81 0.00909568 0.00980628 0.150653 1 0 N4BP3 23138 broad.mit.edu 37 5 177546687 177546687 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr5:177546687G>A ENST00000274605.5 + 2 462 c.103G>A c.(103-105)Ggg>Agg p.G35R NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 35 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCACTTGCCGGGTCTCGGGG 0.677000 4 68 0 0 0.217242 0 0 FPR2 2358 broad.mit.edu 37 19 52272405 52272405 + Missense_Mutation SNP C C A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:52272405C>A ENST00000598776.1 + 2 1266 c.494C>A c.(493-495)aCt>aAt p.T165N FPR2_ENST00000340023.6_Missense_Mutation_p.T165N|FPR2_ENST00000598953.1_Missense_Mutation_p.T165N NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 165 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTCTTTTTGACTACAGTAACT 0.512000 3 108 0.115264 0.122357 0.115264 1 0 TOX2 84969 broad.mit.edu 37 20 42635234 42635234 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr20:42635234G>A ENST00000358131.5 + 3 448 c.240G>A c.(238-240)ccG>ccA p.P80P TOX2_ENST00000423191.1_Silent_p.P29P|TOX2_ENST00000341197.3_Silent_p.P71P|TOX2_ENST00000372999.1_Silent_p.P29P NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 80 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGATCCCCCCGATAACACCTC 0.587000 30 72 0 0 0.796494 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 38 0 0 0.150653 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 4 79 0 0 0.184627 0 0 PLAT 5327 broad.mit.edu 37 8 42045029 42045029 + Silent SNP C C A rs146968391 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr8:42045029C>A ENST00000220809.4 - 6 682 c.426G>T c.(424-426)gcG>gcT p.A142A PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.A142A|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Silent_p.A96A|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000270189.6_Silent_p.A142A NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 142 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CGCCACTCTCCGCTGTGCTCC 0.657000 15 31 6.49762e-13 7.11644e-13 0.539581 1 0 TCHH 7062 broad.mit.edu 37 1 152082220 152082220 + Missense_Mutation SNP G G C rs113946258 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:152082220G>C ENST00000368804.1 - 2 3472 c.3473C>G c.(3472-3474)cCg>cGg p.P1158R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1158 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTCCGGTTCCTCTCT 0.592000 3 68 0 0 0.248553 0 0 VPS16 64601 broad.mit.edu 37 20 2846119 2846119 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr20:2846119A>G ENST00000380445.3 + 22 2321 c.2249A>G c.(2248-2250)aAg>aGg p.K750R VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 750 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 TCCAAGAGCAAGAAATCACCC 0.562000 14 34 0 0 0.500413 0 0 ENOX1 55068 broad.mit.edu 37 13 43934080 43934080 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr13:43934080C>T ENST00000261488.6 - 7 1073 c.496G>A c.(496-498)Ggt>Agt p.G166S ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166S|ENOX1_ENST00000540032.1_5'UTR NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 166 RRM. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GTAATATCACCGCACTGTTCA 0.403000 20 26 0 0 0.592651 0 0 TRIM10 10107 broad.mit.edu 37 6 30121516 30121516 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr6:30121516G>A ENST00000376704.3 - 8 1212 c.1137C>T c.(1135-1137)tgC>tgT p.C379C TRIM10_ENST00000449742.2_3'UTR NM_052828.2 NP_439893.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 0 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 AGAACTGGCAGCAGCCTGAGT 0.547000 3 44 0 0 0.150653 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100014780 100014780 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr7:100014780C>G ENST00000398027.2 - 6 635 c.388G>C c.(388-390)Gag>Cag p.E130Q ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 130 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAAGAAGTCTCTGCAAAATCA 0.413000 20 57 0 0 0.624587 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256863 69256863 + Missense_Mutation SNP C C A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr14:69256863C>A ENST00000439696.2 - 2 705 c.404G>T c.(403-405)tGc>tTc p.C135F ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 135 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGCGAACTGGCACTTGTCCCC 0.642000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 159 1.03325e-14 1.1499e-14 0.859065 1 0 SUSD2 56241 broad.mit.edu 37 22 24581635 24581635 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr22:24581635G>A ENST00000358321.3 + 8 1338 c.1077G>A c.(1075-1077)cgG>cgA p.R359R NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 359 AMOP. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GCAGCCTCCGGTACGGCTCAG 0.697000 10 24 0 0 0.335167 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541898 40541898 + Missense_Mutation SNP A A C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:40541898A>C ENST00000434248.1 - 5 933 c.868T>G c.(868-870)Tca>Gca p.S290A ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATAAGATTTGAACCACGATTA 0.368000 3 95 0 0 0.278610 0 0 TRPC7 57113 broad.mit.edu 37 5 135692511 135692511 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr5:135692511G>A ENST00000513104.1 - 2 847 c.565C>T c.(565-567)Cgc>Tgc p.R189C TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 189 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGCTCGATGCGGGCGCCCTTG 0.622000 24 94 0 0 0.681144 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 132 0 0 0.184627 0 0 UHRF1 29128 broad.mit.edu 37 19 4930834 4930834 + RNA SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:4930834C>G ENST00000592666.1 + 0 1091 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CCCTGCAGCTCCACGTCCAGG 0.647000 29 82 0 0 0.796494 0 0 CCNG2 901 broad.mit.edu 37 4 78082099 78082099 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr4:78082099A>G ENST00000316355.5 + 4 858 c.502A>G c.(502-504)Att>Gtt p.I168V CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 168 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 ATACCATACTATTATACTTTG 0.313000 9 48 0 0 0.361761 0 0 OGDHL 55753 broad.mit.edu 37 10 50953438 50953438 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr10:50953438G>A ENST00000374103.4 - 12 1666 c.1581C>T c.(1579-1581)taC>taT p.Y527Y OGDHL_ENST00000432695.1_Silent_p.Y318Y|OGDHL_ENST00000419399.1_Silent_p.Y470Y NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 527 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 GCTTGTCTGCGTACTTCTTCA 0.602000 5 53 0 0 0.217242 0 0 EXT2 2132 broad.mit.edu 37 11 44151632 44151632 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr11:44151632G>A ENST00000395673.3 + 7 1272 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M EXT2_ENST00000533608.1_Missense_Mutation_p.V373M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 373 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GATGTCAGATGTGTACAGTAT 0.453000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 23 53 0 0 0.706142 0 0 GZMB 3002 broad.mit.edu 37 14 25101106 25101106 + Silent SNP C C T rs150419134 byFrequency TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr14:25101106C>T ENST00000216341.4 - 4 664 c.558G>A c.(556-558)gaG>gaA p.E186E GZMB_ENST00000415355.3_Silent_p.E174E|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Silent_p.E141E|GZMB_ENST00000526004.1_3'UTR P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 186 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) CCACGCACAACTCAATGGTAC 0.453000 25 122 0 0 0.681144 0 0 HMCN1 83872 broad.mit.edu 37 1 185959468 185959468 + Silent SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:185959468C>T ENST00000271588.4 + 22 3499 c.3270C>T c.(3268-3270)tcC>tcT p.S1090S HMCN1_ENST00000367492.2_Silent_p.S1090S|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1090 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding p.S1090S(1) 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 TTGAGATCTCCGTCCTTGCAG 0.458000 69 180 0 0 0.870114 0 0 ASTL 431705 broad.mit.edu 37 2 96789882 96789882 + Missense_Mutation SNP C C T rs138508296 by1000genomes TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr2:96789882C>T ENST00000342380.2 - 9 1002 c.1003G>A c.(1003-1005)Gtt>Att p.V335I NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 335 proteolysis metalloendopeptidase activity|zinc ion binding p.V335F(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCTGCAGGAACGGGCTGGCCT 0.672000 17 57 0 0 0.557998 0 0 PTPN9 5780 broad.mit.edu 37 15 75798219 75798219 + Silent SNP G G A rs146156674 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr15:75798219G>A ENST00000306726.2 - 7 1277 c.765C>T c.(763-765)aaC>aaT p.N255N NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 255 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTGGGTGGCCGTTCACCTGGG 0.542000 3 53 0 0 0.150653 0 0 DPH7 92715 broad.mit.edu 37 9 140450002 140450002 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr9:140450002G>A ENST00000277540.2 - 9 1205 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 GAGGGGGCCCGCTGCAGAGAA 0.597000 3 86 0 0 0.150653 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 42 0 0 0.150653 0 0 LRRC49 54839 broad.mit.edu 37 15 71185232 71185232 + Translation_Start_Site SNP T T G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr15:71185232T>G ENST00000443425.2 + 0 62 LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000260382.5_De_novo_Start_InFrame NM_001199018.1 NP_001185947.1 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 CTGTCTCCTATCATGATTCCC 0.512000 OREG0023244 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 101 0 0 0.706142 0 0 COL7A1 1294 broad.mit.edu 37 3 48626825 48626825 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:48626825G>A ENST00000328333.8 - 17 2356 c.2249C>T c.(2248-2250)aCg>aTg p.T750M COL7A1_ENST00000454817.1_Missense_Mutation_p.T750M NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 750 Fibronectin type-III 6.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACATGCACCGTATACTCAGT 0.622000 21 58 0 0 0.654019 0 0 UGT1A9 0 broad.mit.edu 37 2 234581373 234581373 + Missense_Mutation SNP G G A rs142414435 byFrequency TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr2:234581373G>A ENST00000354728.4 + 1 875 c.793G>A c.(793-795)Gtg>Atg p.V265M UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) TCCCAAACCCGTGATGCCCAA 0.438000 5 291 0 0 0.248553 0 0 ZIC5 85416 broad.mit.edu 37 13 100622586 100622586 + Silent SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr13:100622586C>T ENST00000267294.4 - 1 1577 c.1344G>A c.(1342-1344)gaG>gaA p.E448E NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 448 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTCCCACGTGCTCCACCGTGA 0.677000 16 39 0 0 0.557998 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 142 0 0 0.150653 0 0 CCSER2 54462 broad.mit.edu 37 10 86132184 86132184 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr10:86132184C>G ENST00000224756.8 + 2 1561 c.1376C>G c.(1375-1377)gCc>gGc p.A459G CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G|CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 AATGAAAAAGCCTTCAGTAAA 0.328000 5 97 0 0 0.278610 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541912 40541912 + Missense_Mutation SNP G G C rs139701679 by1000genomes TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:40541912G>C ENST00000434248.1 - 5 919 c.854C>G c.(853-855)gCc>gGc p.A285G ZNF780B_ENST00000221355.6_Missense_Mutation_p.A137G NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACGATTAAAGGCTTTCCCACA 0.373000 4 88 0 0 0.335167 0 0 RFTN1 23180 broad.mit.edu 37 3 16364942 16364942 + Missense_Mutation SNP G G C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:16364942G>C ENST00000334133.4 - 9 1545 c.1273C>G c.(1273-1275)Cag>Gag p.Q425E OXNAD1_ENST00000435829.2_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 425 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 AAGACAATCTGCTTGGTGGAT 0.473000 14 52 0 0 0.539581 0 0 GAB2 9846 broad.mit.edu 37 11 77961404 77961404 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr11:77961404G>A ENST00000361507.4 - 3 504 c.419C>T c.(418-420)tCt>tTt p.S140F GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 140 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) AGCTGGAGAAGAGCGGGGGCC 0.517000 28 62 0 0 0.729181 0 0 ASB7 140460 broad.mit.edu 37 15 101169708 101169708 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr15:101169708G>A ENST00000332783.7 + 5 1063 c.278G>A c.(277-279)cGg>cAg p.R93Q ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.R93Q NM_198243.2 NP_937886.1 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box containing 7 93 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2) 16 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) ATGCATGGCCGGGCCCGCATT 0.483000 3 75 0 0 0.115264 0 0 AC079807.4 0 broad.mit.edu 37 2 48401774 48401776 + RNA DEL AGG AGG - TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr2:48401774_48401776delAGG ENST00000447571.1 - 0 193 p.0?(2) gaggagggaaaggaggaggagga 0.438 2 4 --- --- --- --- DPY19L2P1 0 broad.mit.edu 37 7 35131386 35131387 + RNA INS - - G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr7:35131386_35131387insG ENST00000436258.1 - 0 1982_1983 tgtgtgtgtgtAAAAATTTTCC 0.386 2 4 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407165 89407165 + RNA DEL T T - rs112016970 TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr11:89407165delT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CATCAATGACTTTTTTTTTTT 0.303 3 5 --- --- --- ---