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 SNURF 8926 broad.mit.edu 37 15 25213157 25213157 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:25213157C>T ENST00000338094.6 + 3 250 c.189C>T c.(187-189)ttC>ttT p.F63F SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000551312.2_Silent_p.F63F|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000577949.1_Silent_p.F63F NM_003097.3|NM_005678.3 NP_003088.1|NP_005669.2 SNRPN upstream reading frame breast(2)|large_intestine(2)|lung(1) 5 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) GGCAGGCATTCTTAGCTGAGA 0.468000 5 27 0 0 1 0 0 TCEA2 6919 broad.mit.edu 37 20 62701683 62701683 + Silent SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:62701683G>C ENST00000361317.2 + 8 949 c.507G>C c.(505-507)ctG>ctC p.L169L TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.L196L NM_198723.1 NP_942016.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 196 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TCTCCAACCTGAAGGATGCCA 0.542000 15 52 0 0 1 0 0 ZNF571 51276 broad.mit.edu 37 19 38057017 38057017 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:38057017C>G ENST00000328550.2 - 4 412 c.313G>C c.(313-315)Ggg>Cgg p.G105R ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G105R|ZNF571_ENST00000358744.3_Missense_Mutation_p.G105R|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G105R|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF540_ENST00000592533.1_Intron Q7Z3V5 ZN571_HUMAN zinc finger protein 571 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTAAAGCCCTTCCTGACTT 0.403000 20 62 0 0 1 0 0 ATG16L1 55054 broad.mit.edu 37 2 234178697 234178697 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:234178697C>T ENST00000392017.4 + 6 948 c.691C>T c.(691-693)Cct>Tct p.P231S ATG16L1_ENST00000347464.5_Missense_Mutation_p.P87S|ATG16L1_ENST00000392018.1_Missense_Mutation_p.P231S|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P231S|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P87S NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 231 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) AGCAAAGGAACCTCTACCAGT 0.368000 9 59 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25665051 25665051 + Silent SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:25665051C>A ENST00000435706.2 - 21 2868 c.2667G>T c.(2665-2667)gtG>gtT p.V889V TOP2B_ENST00000264331.4_Silent_p.V894V Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 894 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TGACATTGTTCACAATTTCCC 0.363000 8 23 0.0581538 0.0584593 1 1 0 PI4K2B 55300 broad.mit.edu 37 4 25260800 25260800 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:25260800A>G ENST00000264864.6 + 5 1087 c.898A>G c.(898-900)Atc>Gtc p.I300V PI4K2B_ENST00000512921.1_Missense_Mutation_p.I204V NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 300 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) GGATTACATCATCAGAAATAC 0.303000 15 38 0 0 1 0 0 C8orf59 401466 broad.mit.edu 37 8 86127171 86127171 + Silent SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:86127171A>C ENST00000417663.2 - 3 281 c.210T>G c.(208-210)ctT>ctG p.L70L C8orf59_ENST00000518562.1_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000421308.2_Silent_p.L70L|C8orf59_ENST00000524353.1_Silent_p.L70L|C8orf59_ENST00000458398.2_Silent_p.L70L|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518091.1_Silent_p.L70L NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 70 GCAGAGGTTCAAGTGAAATGC 0.313000 4 27 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197070253 197070253 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:197070253T>C ENST00000367409.4 - 18 8384 c.8128A>G c.(8128-8130)Aca>Gca p.T2710A ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2710 IQ 30. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTTTTCTTTGTTTCATAATCA 0.348000 7 31 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50315885 50315885 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:50315885T>C ENST00000313777.4 - 2 383 c.220A>G c.(220-222)Agc>Ggc p.S74G FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 74 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCATGGAAGCTTTTCCACACC 0.572000 26 29 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153660128 153660128 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:153660128C>T ENST00000368680.3 + 14 2583 c.2111C>T c.(2110-2112)cCt>cTt p.P704L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 704 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TGGACGGCCCCTGAGCTCCTG 0.602000 20 101 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91312739 91312739 + Silent SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:91312739G>T ENST00000355112.3 + 12 2596 c.2478G>T c.(2476-2478)gtG>gtT p.V826V BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V826V NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 826 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTGTTCCGGTGATGGCTCTTA 0.438000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 6 27 0.00116845 0.00119766 1 1 0 TUBG1 7283 broad.mit.edu 37 17 40762124 40762124 + Splice_Site SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:40762124A>T ENST00000251413.3 + 2 111 c.e2-1 FAM134C_ENST00000585894.1_Intron NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) CCTTCCCCCCAGTTGGGTTCG 0.632000 4 30 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399551 90399551 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:90399551T>C ENST00000337338.5 + 3 1331 c.924T>C c.(922-924)taT>taC p.Y308Y LRRC8D_ENST00000394593.3_Silent_p.Y308Y NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 308 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) ATAAACTCTATGTGGTCCAAA 0.433000 14 52 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32386199 32386199 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:32386199A>C ENST00000283365.9 + 6 730 c.379A>C c.(379-381)Att>Ctt p.I127L DTNA_ENST00000597599.1_Missense_Mutation_p.I127L|DTNA_ENST00000598334.1_Missense_Mutation_p.I127L|DTNA_ENST00000399121.5_Missense_Mutation_p.I127L|DTNA_ENST00000598142.1_Missense_Mutation_p.I127L|DTNA_ENST00000315456.6_Missense_Mutation_p.I127L|DTNA_ENST00000595022.1_Missense_Mutation_p.I127L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.I127L|DTNA_ENST00000596745.1_Missense_Mutation_p.I127L|DTNA_ENST00000269190.7_Missense_Mutation_p.I127L|DTNA_ENST00000444659.1_Missense_Mutation_p.I127L|DTNA_ENST00000399113.3_Missense_Mutation_p.I127L|DTNA_ENST00000598774.1_Missense_Mutation_p.I127L|DTNA_ENST00000269191.6_Missense_Mutation_p.I127L|DTNA_ENST00000348997.5_Missense_Mutation_p.I127L NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 127 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CCATGGTAAAATTTCAGTATT 0.348000 5 27 0 0 1 0 0 YBX3 8531 broad.mit.edu 37 12 10865866 10865866 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:10865866C>A ENST00000228251.4 - 5 717 c.517G>T c.(517-519)Gat>Tat p.D173Y YBX3_ENST00000279550.7_Missense_Mutation_p.D173Y NM_003651.4 NP_003642.3 Y box binding protein 3 CGGCGCCGATCTGCAGCGTAA 0.507000 29 43 3.1745e-13 3.48406e-13 1 1 0 ZNF180 7733 broad.mit.edu 37 19 44981364 44981364 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:44981364G>A ENST00000221327.4 - 5 1615 c.1334C>T c.(1333-1335)tCa>tTa p.S445L ZNF180_ENST00000592529.1_Missense_Mutation_p.S418L|ZNF180_ENST00000391956.4_Missense_Mutation_p.S420L NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CTGCCTGAATGACTTTCCACA 0.393000 45 54 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55736234 55736234 + Splice_Site SNP G G T rs5561 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:55736234G>T ENST00000379906.2 + 14 2085 c.e14-1 SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000568943.1_Splice_Site NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TTTCTCTGCAGTTGCAACACT 0.602000 OREG0023807 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 24 2.61681e-11 2.84479e-11 1 1 0 DDX20 11218 broad.mit.edu 37 1 112309372 112309372 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:112309372T>C ENST00000475700.1 + 3 3508 c.1150T>C c.(1150-1152)Tac>Cac p.Y384H DDX20_ENST00000369702.4_Missense_Mutation_p.Y776H Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 776 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATGAGGAGTACTGGAGAGC 0.428000 27 41 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186335009 186335009 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:186335009A>G ENST00000411641.2 + 4 662 c.443A>G c.(442-444)gAc>gGc p.D148G AHSG_ENST00000273784.5_Missense_Mutation_p.D149G P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 148 Cystatin fetuin-A-type 2. 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) GTGTGCCAAGACTGCCCCCTG 0.642000 OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 27 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554470 85554470 + Nonsense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:85554470C>A ENST00000377386.3 - 2 847 c.385G>T c.(385-387)Gag>Tag p.E129* TGOLN2_ENST00000409232.3_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000282120.2_Intron O43493 TGON2_HUMAN trans-golgi network protein 2 129 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding GTCTGCAGCTCCGGATGCGAC 0.582000 94 455 1.15966e-41 1.30263e-41 1 1 0 CASS4 57091 broad.mit.edu 37 20 55026884 55026884 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:55026884G>A ENST00000371336.3 + 5 853 c.652G>A c.(652-654)Gtt>Att p.V218I CASS4_ENST00000360314.3_Missense_Mutation_p.V218I|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 218 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GGGGCAGGGTGTTCCCCTGAT 0.507000 10 22 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27278055 27278055 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:27278055G>A ENST00000360131.4 + 6 1001 c.842G>A c.(841-843)cGt>cAt p.R281H AGBL5_ENST00000323064.8_Missense_Mutation_p.R281H NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 281 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAACCCTCCGTCGCCTCTTC 0.562000 23 74 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636410 73636410 + Nonsense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:73636410C>T ENST00000377687.4 + 2 1209 c.673C>T c.(673-675)Cag>Tag p.Q225* KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Nonsense_Mutation_p.Q134* NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 225 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CCCTACCCAGCAGGGCCACCT 0.453000 6 27 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40392067 40392067 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:40392067G>A ENST00000221347.6 - 17 8326 c.8319C>T c.(8317-8319)ttC>ttT p.F2773F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2773 Cys-rich.|TIL 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGTTGTAGAGGAAGCCGGAGT 0.602000 12 58 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85611800 85611800 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:85611800T>C ENST00000322366.6 - 60 9578 c.9171A>G c.(9169-9171)gaA>gaG p.E3057E WDFY3_ENST00000295888.4_Silent_p.E3074E Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3074 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) CAGACAAGCATTCATAAACAG 0.473000 6 19 0 0 1 0 0 TTYH1 57348 broad.mit.edu 37 19 54942066 54942066 + Nonsense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:54942066C>T ENST00000301194.4 + 9 1137 c.1015C>T c.(1015-1017)Cag>Tag p.Q339* TTYH1_ENST00000391739.3_Missense_Mutation_p.S369L|TTYH1_ENST00000489425.1_3'UTR|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000376530.3_Nonsense_Mutation_p.Q339*|TTYH1_ENST00000376531.3_Nonsense_Mutation_p.Q339* Q9H313 TTYH1_HUMAN tweety family member 1 339 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGCTGTGCCTCAGTTCCCTTC 0.682000 10 10 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105252536 105252536 + Splice_Site SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:105252536T>A ENST00000306107.5 + 5 1047 c.e5+2 ALCAM_ENST00000389927.4_Splice_Site|ALCAM_ENST00000481337.1_Splice_Site|ALCAM_ENST00000472644.2_Splice_Site|ALCAM_ENST00000486979.2_Splice_Site NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TTGAAGGAGGTGGGTGTGAGG 0.453000 27 44 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20948923 20948923 + Nonsense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:20948923G>T ENST00000298925.5 + 9 1066 c.913G>T c.(913-915)Gga>Tga p.G305* NELL1_ENST00000532434.1_Nonsense_Mutation_p.G277*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.G220*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.G277* Q92832 NELL1_HUMAN NEL-like 1 (chicken) 277 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TCAAGTGAGTGGACTGCTCTA 0.383000 15 30 1.67942e-08 1.79513e-08 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179399620 179399620 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:179399620A>G ENST00000367618.3 + 14 1753 c.1366A>G c.(1366-1368)Aca>Gca p.T456A AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.T456A NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 456 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCAGAAGTTGACACAAAAATG 0.308000 7 46 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49050875 49050875 + Nonsense_Mutation SNP T T A rs148327780 by1000genomes TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:49050875T>A ENST00000267163.4 + 25 2697 c.2559T>A c.(2557-2559)tgT>tgA p.C853* RB1_ENST00000484879.1_3'UTR NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 853 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGATGGTATGTAACAGCGACC 0.373000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 7 20 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53215527 53215527 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:53215527C>T ENST00000394729.2 + 5 772 c.444C>T c.(442-444)atC>atT p.I148I PRKCD_ENST00000330452.3_Silent_p.I148I NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 148 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GCGGAGCCATCAAACAGGCCA 0.522000 9 28 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48698320 48698320 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:48698320T>C ENST00000544264.1 - 1 2028 c.1748A>G c.(1747-1749)aAc>aGc p.N583S CELSR3_ENST00000164024.4_Missense_Mutation_p.N583S Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 583 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACTGATGATGTTGTAGTGCAC 0.607000 4 8 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160136383 160136383 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:160136383G>A ENST00000368081.4 + 8 1584 c.1113G>A c.(1111-1113)gcG>gcA p.A371A NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 371 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCTGGAGGCGGTGGAGACGC 0.592000 12 35 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102584804 102584804 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:102584804A>G ENST00000339431.4 + 4 1371 c.1076A>G c.(1075-1077)cAc>cGc p.H359R FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 359 LRRCT 2. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TACAACATTCACTACCTCTAC 0.393000 14 92 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67796236 67796236 + Silent SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:67796236A>T ENST00000492775.1 + 9 1210 c.1080A>T c.(1078-1080)atA>atT p.I360I MCMDC2_ENST00000313616.5_Intron|MCMDC2_ENST00000396592.3_Intron|MCMDC2_ENST00000422365.2_Intron|MCMDC2_ENST00000541540.1_Intron Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 360 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 ACAGGTATATATGTGACATGA 0.323000 16 35 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74289136 74289136 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:74289136T>C ENST00000253577.3 - 11 1546 c.1522A>G c.(1522-1524)Agt>Ggt p.S508G ABCB7_ENST00000373394.3_Missense_Mutation_p.S507G|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.S467G NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 507 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 CCTGACCCACTACCTCCTACA 0.368000 23 59 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174868816 174868816 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:174868816G>A ENST00000393752.2 - 2 2279 c.1287C>T c.(1285-1287)gaC>gaT p.D429D NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 429 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CCAGAGAGACGTCAGTGTCAT 0.532000 14 79 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:45867687T>C ENST00000391945.4 - 8 790 c.713A>G c.(712-714)aAc>aGc p.N238S ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.N238S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 6 14 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52480082 52480082 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:52480082G>A ENST00000219746.9 - 5 1014 c.730C>T c.(730-732)Cca>Tca p.P244S TOX3_ENST00000407228.3_Missense_Mutation_p.P239S NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 244 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TTTTTCTTTGGAGTCTTGGGC 0.443000 20 31 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103153799 103153799 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:103153799C>T ENST00000375735.2 + 73 11019 c.10875C>T c.(10873-10875)gcC>gcT p.A3625A DYNC2H1_ENST00000398093.3_Silent_p.A3632A|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3625 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAAGCTGGGCCGTGGCAACAT 0.353000 7 14 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346831 140346831 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:140346831G>A ENST00000289269.5 + 1 1012 c.480G>A c.(478-480)tcG>tcA p.S160S PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 160 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAGCGAATCGGTGGCGCCTG 0.617000 7 9 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927113 111927113 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:111927113A>T ENST00000305815.5 - 16 2150 c.1898T>A c.(1897-1899)aTa>aAa p.I633K SLC9C1_ENST00000487372.1_Missense_Mutation_p.I585K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 633 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TAACTGGGATATCCAAGAGAT 0.294000 16 83 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38546236 38546236 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:38546236G>A ENST00000423485.1 - 34 4606 c.4448C>T c.(4447-4449)tCg>tTg p.S1483L NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1483 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GACTGCTTTCGAAACAATTTT 0.418000 4 10 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197063311 197063311 + Splice_Site SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:197063311C>A ENST00000367409.4 - 20 9244 c.e20-1 ASPM_ENST00000294732.7_Splice_Site|ASPM_ENST00000367408.1_Splice_Site NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ATTCAAAAACCTAAAAAGTAG 0.303000 3 34 0.004672 0.00474642 1 1 0 SEC23IP 11196 broad.mit.edu 37 10 121668558 121668558 + Silent SNP A A G rs149253942 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:121668558A>G ENST00000369075.3 + 5 1179 c.1107A>G c.(1105-1107)gaA>gaG p.E369E SEC23IP_ENST00000543134.1_Silent_p.E158E NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 369 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TATAGGCTGAATATAAAAAAG 0.368000 4 20 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244618 1244618 + RNA SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:1244618G>A ENST00000581398.1 + 0 572 CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA NR_033339.1 TGGACTTGCAGAGCTCAACAG 0.547000 13 30 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3913785 3913785 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:3913785T>C ENST00000450849.2 + 9 1363 c.896T>C c.(895-897)gTg>gCg p.V299A ATCAY_ENST00000600960.1_Missense_Mutation_p.V299A|ATCAY_ENST00000301260.6_Missense_Mutation_p.V299A|ATCAY_ENST00000398448.3_Missense_Mutation_p.V305A NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 299 CRAL-TRIO. transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) ATCCAGTACGTGCACAGCTTG 0.582000 5 26 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66475748 66475748 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:66475748G>A ENST00000533211.1 - 12 1545 c.1214C>T c.(1213-1215)gCg>gTg p.A405V SPTBN2_ENST00000529997.1_Missense_Mutation_p.A405V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A405V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 405 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTCGTGCTCCGCCTTCTCCAG 0.682000 15 12 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120354619 120354619 + Silent SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:120354619G>T ENST00000239032.2 - 2 276 c.138C>A c.(136-138)gcC>gcA p.A46A PRLHR_ENST00000369169.1_Silent_p.A46A NM_004248.2 NP_004239 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 46 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) AGGGCGTGACGGCTGGAGCGT 0.677000 11 30 1.58986e-06 1.68063e-06 1 1 0 DSG4 147409 broad.mit.edu 37 18 28986105 28986105 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:28986105G>T ENST00000359747.4 + 12 1731 c.1702G>T c.(1702-1704)Gtg>Ttg p.V568L DSG4_ENST00000308128.4_Missense_Mutation_p.V568L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 568 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCCAATCCTGGTGAAGGACAG 0.453000 13 52 1.05317e-09 1.13632e-09 1 1 0 CPA5 93979 broad.mit.edu 37 7 130008339 130008339 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:130008339T>C ENST00000431780.2 + 11 1572 c.1127T>C c.(1126-1128)aTg>aCg p.M376T CPA5_ENST00000355388.3_Silent_p.Y404Y|CPA5_ENST00000485477.1_Silent_p.Y404Y|CPA5_ENST00000474905.1_Silent_p.Y404Y|CPA5_ENST00000393213.3_Silent_p.Y404Y|CPA5_ENST00000466363.2_Silent_p.Y404Y|CPA5_ENST00000461828.1_Silent_p.Y404Y NM_001127442.1 NP_001120914.1 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 0 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CTGGGCAGTATGGCTTCCTGC 0.582000 14 76 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123868631 123868631 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:123868631T>C ENST00000274008.4 + 9 1771 c.1702T>C c.(1702-1704)Tgt>Cgt p.C568R SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 C -> Y (in Ref. 3; BAC03651). cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 GAAAGTCTTGTGTAATGAAGC 0.418000 13 54 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56300694 56300694 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:56300694A>C ENST00000443188.1 - 10 3295 c.2585T>G c.(2584-2586)cTg>cGg p.L862R NLRP11_ENST00000589824.2_Missense_Mutation_p.L808R|NLRP11_ENST00000360133.3_Missense_Mutation_p.L808R|NLRP11_ENST00000592953.1_Missense_Mutation_p.L763R|NLRP11_ENST00000589093.1_Missense_Mutation_p.L862R NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 862 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAGGCTCCTCAGTTTTTCATT 0.423000 23 89 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128087555 128087555 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:128087555T>C ENST00000409947.1 - 7 690 c.408A>G c.(406-408)ctA>ctG p.L136L MAP3K2_ENST00000344908.5_Silent_p.L136L Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 136 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) CCAAATCTTCTAGTGATGGCA 0.368000 3 39 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466477 56466477 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:56466477C>T ENST00000291971.3 + 3 1124 c.1053C>T c.(1051-1053)ctC>ctT p.L351L NLRP8_ENST00000590542.1_Silent_p.L351L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 351 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTCCCTCTCTCGTAACCCTTC 0.463000 19 54 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225639730 225639730 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:225639730C>T ENST00000409592.3 - 52 6000 c.5887G>A c.(5887-5889)Gaa>Aaa p.E1963K DOCK10_ENST00000258390.7_Missense_Mutation_p.E1969K Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1969 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGGTGCATTTCGAAATCTGTC 0.532000 11 8 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74514249 74514249 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:74514249G>A ENST00000422840.2 - 11 1716 c.1717C>T c.(1717-1719)Cgt>Tgt p.R573C GLG1_ENST00000447066.2_Missense_Mutation_p.R562C|GLG1_ENST00000205061.5_Missense_Mutation_p.R573C NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 573 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TGGCAAAGACGAGAAGCGTCT 0.468000 17 41 0 0 1 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66298390 66298390 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:66298390A>G ENST00000419755.3 + 15 1688 c.1610A>G c.(1609-1611)aAg>aGg p.K537R BBS1_ENST00000393994.2_Missense_Mutation_p.K371R|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.K403R|BBS1_ENST00000318312.7_Missense_Mutation_p.K500R CCCACCTTTAAGCTCACACTT 0.612000 14 53 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 36 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174131126 174131126 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:174131126G>T ENST00000375213.3 + 20 2129 c.2051G>T c.(2050-2052)gGt>gTt p.G684V MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.G684V|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 TATGGACGTGGTAGTATATCA 0.458000 21 30 1.01871e-10 1.10328e-10 1 1 0 ATHL1 80162 broad.mit.edu 37 11 294327 294327 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:294327C>T ENST00000409548.2 + 13 1984 c.1869C>T c.(1867-1869)agC>agT p.S623S ATHL1_ENST00000409479.1_Silent_p.S650S|ATHL1_ENST00000409655.1_Silent_p.S375S NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 623 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CCAGAGTGAGCGTCTCCGGCA 0.617000 23 39 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585243 82585243 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:82585243T>A ENST00000333891.9 - 5 5363 c.5026A>T c.(5026-5028)Ata>Tta p.I1676L PCLO_ENST00000423517.2_Missense_Mutation_p.I1676L NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTATCTGCTATTGTACTGTTG 0.383000 12 44 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44109598 44109598 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:44109598T>C ENST00000267812.3 - 2 360 c.128A>G c.(127-129)aAa>aGa p.K43R NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 43 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) GTCTGGCCTTTTTCCGGACAC 0.438000 9 61 0 0 1 0 0 C11orf68 83638 broad.mit.edu 37 11 65685245 65685245 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:65685245G>A ENST00000438576.2 - 2 652 c.567C>T c.(565-567)gcC>gcT p.A189A C11orf68_ENST00000449692.3_Silent_p.A188A|C11orf68_ENST00000530188.1_Silent_p.A147A Q9H3H3 CK068_HUMAN chromosome 11 open reading frame 68 147 large_intestine(1)|lung(3) 4 READ - Rectum adenocarcinoma(159;0.166) CCACGGCCCGGGCAATGCCAG 0.652000 3 28 0 0 1 0 0 CDC42 998 broad.mit.edu 37 1 22408260 22408260 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:22408260T>C ENST00000344548.3 + 4 402 c.151T>C c.(151-153)Tat>Cat p.Y51H CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.Y51H|CDC42_ENST00000421089.2_Missense_Mutation_p.Y93H|CDC42_ENST00000400259.1_Missense_Mutation_p.Y51H NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 51 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TGGAGAACCATATACTCTTGG 0.343000 26 59 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40627509 40627509 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:40627509T>C ENST00000397536.2 - 7 860 c.825A>G c.(823-825)ccA>ccG p.P275P C15orf52_ENST00000559313.1_Silent_p.P485P Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 485 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CTCCGGGCTCTGGGAGCCCTG 0.662000 11 48 0 0 1 0 0 RPAIN 84268 broad.mit.edu 37 17 5326096 5326096 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:5326096A>T ENST00000381209.3 + 3 830 c.260A>T c.(259-261)gAg>gTg p.E87V RPAIN_ENST00000405578.4_Missense_Mutation_p.E87V|RPAIN_ENST00000327154.6_Missense_Mutation_p.E87V|RPAIN_ENST00000381208.5_Missense_Mutation_p.E87V|RPAIN_ENST00000574003.1_Missense_Mutation_p.E87V|RPAIN_ENST00000536255.2_Missense_Mutation_p.E87V NM_001033002.3 NP_001028174.2 Q86UA6 RIP_HUMAN RPA interacting protein 87 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 CAGCTGGAGGAGCTGATAGAC 0.478000 12 18 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125648398 125648398 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:125648398T>A ENST00000340333.3 - 6 524 c.361A>T c.(361-363)Aac>Tac p.N121Y FAM86JP_ENST00000485843.1_RNA NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 121 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 TCAGGAAAGTTTGAGAAAAGC 0.557000 3 16 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28059151 28059151 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:28059151G>A ENST00000373954.6 + 3 286 c.184G>A c.(184-186)Gtg>Atg p.V62M FAM76A_ENST00000419687.2_Missense_Mutation_p.V62M|FAM76A_ENST00000010299.6_Missense_Mutation_p.V96M|FAM76A_ENST00000234549.7_Missense_Mutation_p.V96M|FAM76A_ENST00000373949.1_Missense_Mutation_p.V62M|FAM76A_ENST00000530324.1_Missense_Mutation_p.V62M NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 62 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) TGCTCAGAACGTGCAGTTGTA 0.388000 9 36 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20411691 20411691 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:20411691A>G ENST00000382905.4 - 6 1295 c.1143T>C c.(1141-1143)gaT>gaC p.D381D ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000337963.4_Intron NM_001039650.2 NP_001034739.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 0 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) CATGTTATACATCCAGAACAC 0.299000 45 93 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671318 25671318 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:25671318G>C ENST00000281589.3 + 1 1019 c.982G>C c.(982-984)Gaa>Caa p.E328Q NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 328 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGTTATGATGGAAGGTGGTCG 0.408000 35 190 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242455 60242455 + Silent SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:60242455A>T ENST00000269499.5 + 13 3559 c.3141A>T c.(3139-3141)tcA>tcT p.S1047S ZCCHC2_ENST00000586834.1_Silent_p.S726S NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1047 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GAGTCCCTTCATTCTTTACTC 0.458000 6 18 0 0 1 0 0 DLX2 1746 broad.mit.edu 37 2 172965628 172965628 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:172965628C>T ENST00000234198.4 - 3 991 c.630G>A c.(628-630)atG>atA p.M210I DLX2_ENST00000466293.2_3'UTR NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 210 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) CACTTTTCCACATCTTCTTGA 0.572000 14 17 0 0 1 0 0 CTHRC1 115908 broad.mit.edu 37 8 104390402 104390402 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:104390402G>T ENST00000330295.5 + 3 662 c.520G>T c.(520-522)Gct>Tct p.A174S CTHRC1_ENST00000520337.1_Missense_Mutation_p.A160S|CTHRC1_ENST00000520880.1_Missense_Mutation_p.A44S NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 174 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) TCCCATTGAAGCTATAATTTA 0.398000 25 64 6.12954e-19 6.83175e-19 1 1 0 NDUFA7 4701 broad.mit.edu 37 19 8381483 8381483 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:8381483A>G ENST00000301457.2 - 3 185 c.148T>C c.(148-150)Tcc>Ccc p.S50P NDUFA7_ENST00000598884.1_Missense_Mutation_p.S50P NM_005001.3 NP_004992.2 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 50 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity NS(1)|central_nervous_system(1)|lung(2)|ovary(1) 5 NADH(DB00157) TAATTGTTGGAGAGCTTGTGG 0.562000 7 36 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95715044 95715044 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:95715044G>C ENST00000376887.4 - 26 3394 c.3280C>G c.(3280-3282)Ccc>Gcc p.P1094A ABCC4_ENST00000412704.1_Missense_Mutation_p.P1047A NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1094 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTACCTTCGGGTTCTGACAAT 0.418000 13 29 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29528136 29528136 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:29528136T>C ENST00000358273.4 + 10 1527 c.1144T>C c.(1144-1146)Tct>Cct p.S382P NF1_ENST00000431387.4_Missense_Mutation_p.S382P|NF1_ENST00000356175.3_Missense_Mutation_p.S382P NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 382 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGCCTTGTTTCTTGCTTTCG 0.378000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 25 35 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94004546 94004546 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:94004546C>A ENST00000553484.1 + 12 1488 c.1334C>A c.(1333-1335)gCc>gAc p.A445D UNC79_ENST00000256339.4_Missense_Mutation_p.A268D|UNC79_ENST00000555664.1_Missense_Mutation_p.A445D|UNC79_ENST00000393151.2_Missense_Mutation_p.A445D Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 445 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTGGTCTGCGCCGTGGAAGCC 0.567000 3 7 0.004672 0.00474642 1 1 0 TBX22 50945 broad.mit.edu 37 X 79283516 79283516 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:79283516C>A ENST00000442340.1 + 8 1020 c.530C>A c.(529-531)aCc>aAc p.T177N TBX22_ENST00000373296.3_Missense_Mutation_p.T297N|TBX22_ENST00000373291.1_Missense_Mutation_p.T177N|TBX22_ENST00000373294.5_Missense_Mutation_p.T297N NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 297 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CTTTTAGAGACCTACCCATGG 0.363000 13 46 1.49906e-05 1.57593e-05 1 1 0 MYO5B 4645 broad.mit.edu 37 18 47581662 47581662 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:47581662T>C ENST00000285039.7 - 2 413 c.114A>G c.(112-114)ctA>ctG p.L38L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 38 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GTCTGAGCTGTAGGCTCTTGT 0.552000 7 27 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95294101 95294101 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:95294101A>G ENST00000271227.6 + 5 570 c.468A>G c.(466-468)ccA>ccG p.P156P SLC44A3_ENST00000532427.1_Silent_p.P76P|SLC44A3_ENST00000529450.1_Silent_p.P124P|SLC44A3_ENST00000467909.1_Silent_p.P108P|SLC44A3_ENST00000527077.1_Silent_p.P88P|SLC44A3_ENST00000446120.2_Silent_p.P120P|SLC44A3_ENST00000530397.1_3'UTR NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 156 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) CCCACAGTCCAAAAGCAGACT 0.433000 17 62 0 0 1 0 0 ZNF326 284695 broad.mit.edu 37 1 90463714 90463714 + Splice_Site SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:90463714G>C ENST00000370447.3 + 2 182 c.e2+1 ZNF326_ENST00000361911.5_Splice_Site|ZNF326_ENST00000340281.4_Splice_Site|ZNF326_ENST00000455342.2_Splice_Site Q5BKZ1 ZN326_HUMAN zinc finger protein 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GGCTTTAATGGTAAGTATCCT 0.343000 4 40 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43570530 43570530 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:43570530T>G ENST00000216129.6 - 7 1072 c.1009A>C c.(1009-1011)Aac>Cac p.N337H TTLL12_ENST00000484118.1_5'UTR NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 337 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TGTGAGAAGTTGAAGAGGATG 0.657000 17 14 0 0 1 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571499 155571499 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:155571499T>C ENST00000392845.3 - 1 668 c.288A>G c.(286-288)ccA>ccG p.P96P SLC33A1_ENST00000359479.3_Silent_p.P96P O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCAAAATGAGTGGGATGCTTC 0.483000 11 51 0 0 1 0 0 WIPF2 147179 broad.mit.edu 37 17 38421195 38421195 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:38421195G>T ENST00000323571.4 + 5 1007 c.767G>T c.(766-768)cGc>cTc p.R256L WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.R256L|WIPF2_ENST00000583130.1_Missense_Mutation_p.R256L|WIPF2_ENST00000494757.1_3'UTR NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 256 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CCGCCTTACCGCCAGCCTCCT 0.592000 HNSCC(43;0.11) 11 86 3.07112e-06 3.24048e-06 1 1 0 OMD 4958 broad.mit.edu 37 9 95178993 95178993 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:95178993A>G ENST00000375550.4 - 2 1123 c.848T>C c.(847-849)gTa>gCa p.V283A CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 283 cell adhesion proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16 ACTGAGTTCTACAATGTTGGG 0.313000 T USP6 aneurysmal bone cysts 24 31 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82433870 82433870 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:82433870A>G ENST00000370728.1 + 16 3143 c.2498A>G c.(2497-2499)cAc>cGc p.H833R LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.H833R|LPHN2_ENST00000370727.1_Missense_Mutation_p.H833R|LPHN2_ENST00000370717.2_Missense_Mutation_p.H833R|LPHN2_ENST00000370723.1_Missense_Mutation_p.H820R|LPHN2_ENST00000319517.6_Missense_Mutation_p.H820R|LPHN2_ENST00000359929.3_Missense_Mutation_p.H820R|LPHN2_ENST00000370730.1_Missense_Mutation_p.H833R|LPHN2_ENST00000370715.1_Missense_Mutation_p.H820R|LPHN2_ENST00000335786.5_Missense_Mutation_p.H833R|LPHN2_ENST00000370713.1_Missense_Mutation_p.H820R|LPHN2_ENST00000394879.1_Missense_Mutation_p.H820R|LPHN2_ENST00000370725.1_Missense_Mutation_p.H833R|LPHN2_ENST00000370721.1_Missense_Mutation_p.H758R O95490 LPHN2_HUMAN latrophilin 2 833 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTCATGGCCCACAGGGAAATT 0.423000 8 60 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56205221 56205221 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:56205221A>T ENST00000361673.3 - 5 2411 c.2198T>A c.(2197-2199)tTc>tAc p.F733Y RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 733 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GTCTTCCCTGAAATTGTCAGG 0.468000 34 73 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50209352 50209352 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:50209352C>G ENST00000392518.4 + 11 1523 c.1151C>G c.(1150-1152)gCt>gGt p.A384G CPT1C_ENST00000598293.1_Missense_Mutation_p.A384G|CPT1C_ENST00000405931.2_Missense_Mutation_p.A373G|CPT1C_ENST00000323446.5_Missense_Mutation_p.A384G|CPT1C_ENST00000354199.5_Missense_Mutation_p.A384G NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 384 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GCTCTGACAGCTGCTCCCAGG 0.652000 7 11 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15228701 15228701 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:15228701C>A ENST00000263383.3 - 10 1316 c.1177G>T c.(1177-1179)Gct>Tct p.A393S ILVBL_ENST00000534378.1_Missense_Mutation_p.A286S NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 393 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CCCTGCACAGCCTCCTGGGGC 0.557000 6 31 0.00198382 0.00202618 1 1 0 IGLV2-11 28816 broad.mit.edu 37 22 23135485 23135485 + RNA SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:23135485A>G ENST00000390314.2 + 0 389 GCAGGCAGCTACACTTTCCAC 0.557000 28 55 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106185963 106185963 + Nonsense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:106185963C>A ENST00000355610.4 - 15 2432 c.2158G>T c.(2158-2160)Gag>Tag p.E720* MORC4_ENST00000535534.1_Nonsense_Mutation_p.E468*|MORC4_ENST00000255495.7_Nonsense_Mutation_p.E720* NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 720 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 TTTCGTCTCTCAGCAAGCTCC 0.502000 36 79 1.42033e-22 1.58613e-22 1 1 0 BARD1 580 broad.mit.edu 37 2 215593707 215593707 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:215593707T>C ENST00000260947.4 - 11 2161 c.2027A>G c.(2026-2028)tAc>tGc p.Y676C BARD1_ENST00000449967.2_Missense_Mutation_p.T531A|BARD1_ENST00000432456.1_Missense_Mutation_p.Y47C NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 676 BRCT 2. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAAATAGAAGTAGCATCCATC 0.408000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 14 10 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44567648 44567648 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:44567648G>A ENST00000372409.3 + 3 374 c.10G>A c.(10-12)Gag>Aag p.E4K NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 4 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 GATGGCCAATGAGAATCACGG 0.612000 6 38 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70279289 70279289 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:70279289C>G ENST00000346329.3 + 15 1546 c.1238C>G c.(1237-1239)gCc>gGc p.A413G CTTN_ENST00000538675.1_Missense_Mutation_p.A134G|CTTN_ENST00000301843.8_Missense_Mutation_p.A450G|CTTN_ENST00000376561.3_Missense_Mutation_p.A413G NM_138565.2 NP_612632.1 Q14247 SRC8_HUMAN cortactin 450 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGCATGGAGGCCGCTGACTAC 0.647000 7 18 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110587814 110587814 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:110587814C>T ENST00000399066.3 - 6 2031 c.1304G>A c.(1303-1305)aGc>aAc p.S435N SYBU_ENST00000424158.2_Missense_Mutation_p.S443N|SYBU_ENST00000533895.1_Missense_Mutation_p.S437N|SYBU_ENST00000528331.1_Missense_Mutation_p.S319N|SYBU_ENST00000446070.2_Missense_Mutation_p.S437N|SYBU_ENST00000528647.1_Missense_Mutation_p.S437N|SYBU_ENST00000533065.1_Missense_Mutation_p.S319N|SYBU_ENST00000440310.1_Missense_Mutation_p.S438N|SYBU_ENST00000408889.3_Missense_Mutation_p.S319N|SYBU_ENST00000532779.1_Missense_Mutation_p.S370N|SYBU_ENST00000276646.9_Missense_Mutation_p.S438N|SYBU_ENST00000433638.1_Missense_Mutation_p.S438N|SYBU_ENST00000419099.1_Missense_Mutation_p.S437N|SYBU_ENST00000529175.1_Missense_Mutation_p.S232N|SYBU_ENST00000529690.1_Missense_Mutation_p.S308N|SYBU_ENST00000533171.1_Missense_Mutation_p.S438N|SYBU_ENST00000422135.1_Missense_Mutation_p.S438N|SYBU_ENST00000408908.2_Missense_Mutation_p.S438N NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 438 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CAAATCTGTGCTGTTGGCTAT 0.557000 17 35 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114251767 114251767 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:114251767A>G ENST00000371936.1 - 3 315 c.66T>C c.(64-66)tgT>tgC p.C22C IL13RA2_ENST00000243213.1_Silent_p.C22C|IL13RA2_ENST00000468224.1_5'UTR Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 22 extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 AAGATGAAGTACAGCCAAATG 0.318000 23 94 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40590889 40590889 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:40590889T>C ENST00000260402.3 - 10 1120 c.871A>G c.(871-873)Atg>Gtg p.M291V PLCB2_ENST00000557821.1_Missense_Mutation_p.M291V|PLCB2_ENST00000456256.2_Missense_Mutation_p.M291V NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 291 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AACCAGACCATGCCTTCAGGT 0.587000 4 9 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228528870 228528870 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:228528870C>T ENST00000570156.2 + 84 20717 c.20643C>T c.(20641-20643)ctC>ctT p.L6881L OBSCN_ENST00000422127.1_Silent_p.L5924L|OBSCN_ENST00000366707.4_Silent_p.L3558L|OBSCN_ENST00000284548.11_Silent_p.L5924L|OBSCN_ENST00000366709.4_Silent_p.L3043L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5924 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACGTGTTCCTCTTCCGCAACC 0.647000 7 24 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63092086 63092086 + Silent SNP T T A rs145903425 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:63092086T>A ENST00000263991.5 + 10 1565 c.1083T>A c.(1081-1083)acT>acA p.T361T EHBP1_ENST00000405015.3_Silent_p.T326T|EHBP1_ENST00000431489.1_Silent_p.T326T|EHBP1_ENST00000405289.1_Silent_p.T326T|EHBP1_ENST00000354487.3_Silent_p.T326T NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 361 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GTTCTAAAACTGAAGAAGAAG 0.348000 13 41 0 0 1 0 0 ZNF17 7565 broad.mit.edu 37 19 57931275 57931275 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:57931275A>G ENST00000307658.7 + 4 684 c.421A>G c.(421-423)Agt>Ggt p.S141G AC003002.6_ENST00000596400.1_Missense_Mutation_p.S151G|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.S139G P17021 ZNF17_HUMAN zinc finger protein 17 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGTGAATGACAGTGTTCACCT 0.493000 11 76 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034181 52034181 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:52034181C>A ENST00000346477.3 - 3 528 c.460G>T c.(460-462)Ggg>Tgg p.G154W SIGLEC6_ENST00000425629.3_Missense_Mutation_p.G154W|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G154W|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G118W|SIGLEC6_ENST00000391797.3_Splice_Site|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G154W NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 154 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TCCAGGGTCCCTGGGATGGAG 0.637000 9 68 2.74318e-10 2.96532e-10 1 1 0 ABCG2 9429 broad.mit.edu 37 4 89036193 89036193 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:89036193A>G ENST00000237612.3 - 8 1404 c.859T>C c.(859-861)Tat>Cat p.Y287H ABCG2_ENST00000515655.1_Missense_Mutation_p.Y287H NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 287 cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) GGGTTATTATAGGCCTCACAG 0.398000 16 35 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208216442 208216442 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:208216442C>T ENST00000367033.3 - 21 4738 c.3981G>A c.(3979-3981)ccG>ccA p.P1327P NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1327 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCTCGATGCCCGGGAACAGGA 0.602000 11 22 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792940 143792940 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:143792940T>C ENST00000408949.2 + 1 800 c.740T>C c.(739-741)gTg>gCg p.V247A NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) CTCTGCGTGGTGGGGCTTTTC 0.552000 25 137 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1262102 1262102 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:1262102G>A ENST00000348261.5 + 25 4971 c.4723G>A c.(4723-4725)Gag>Aag p.E1575K CACNA1H_ENST00000358590.4_Missense_Mutation_p.E1575K|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E1575K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1575 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCGGCGAGAGGAGAAGCGGCT 0.692000 17 40 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41349105 41349105 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:41349105A>G ENST00000422280.1 + 16 2467 c.2008A>G c.(2008-2010)Aga>Gga p.R670G NBR1_ENST00000589872.1_Missense_Mutation_p.R670G|NBR1_ENST00000389312.4_Missense_Mutation_p.R670G|NBR1_ENST00000542611.1_Missense_Mutation_p.R649G|NBR1_ENST00000590996.1_Missense_Mutation_p.R670G|NBR1_ENST00000341165.6_Missense_Mutation_p.R670G NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 670 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) CCCTCCTTGCAGACAGAAGTC 0.522000 10 13 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39224404 39224404 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:39224404G>C ENST00000328867.4 - 18 2204 c.1896C>G c.(1894-1896)ttC>ttG p.F632L CAPN12_ENST00000601953.1_Missense_Mutation_p.F483L NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 632 Domain IV.|EF-hand. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TGTCCTCATCGAACTTGTTAA 0.602000 13 17 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230650504 230650504 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:230650504C>A ENST00000283943.5 - 33 5016 c.4838G>T c.(4837-4839)cGg>cTg p.R1613L TRIP12_ENST00000389044.4_Missense_Mutation_p.R1661L|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1343L NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1613 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity p.R1613Q(1) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TAACATGGCCCGTGAGCTGCC 0.448000 21 38 1.55795e-14 1.71973e-14 1 1 0 PRX 57716 broad.mit.edu 37 19 40901511 40901511 + Silent SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:40901511C>A ENST00000324001.7 - 7 3018 c.2748G>T c.(2746-2748)ggG>ggT p.G916G PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 916 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTCCAGCCGCCCTTCCTCAA 0.577000 34 68 4.11147e-13 4.50379e-13 1 1 0 ATXN3 4287 broad.mit.edu 37 14 92563113 92563113 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:92563113C>T ENST00000545170.1 - 2 162 c.94G>A c.(94-96)Gaa>Aaa p.E32K ATXN3_ENST00000429774.2_Missense_Mutation_p.E32K|ATXN3_ENST00000393287.5_Missense_Mutation_p.E32K|ATXN3_ENST00000503767.1_Missense_Mutation_p.E32K|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000532032.1_Missense_Mutation_p.E32K|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 32 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) GAGGATAATTCCACAGGGCTA 0.383000 18 67 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440399 145440399 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:145440399A>G ENST00000369317.4 + 5 1039 c.705A>G c.(703-705)tcA>tcG p.S235S TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 235 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGAAGTTGTCATCAGTCAGAG 0.522000 28 56 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80730340 80730340 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:80730340G>C ENST00000355528.4 + 6 725 c.595G>C c.(595-597)Gtc>Ctc p.V199L TBCD_ENST00000539345.2_Missense_Mutation_p.V199L|TBCD_ENST00000397466.2_5'UTR NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 199 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTACTTGATTGTCAGTGACAA 0.557000 32 209 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157892047 157892047 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:157892047G>A ENST00000502773.1 - 1 499 c.9C>T c.(7-9)ctC>ctT p.L3L PDGFC_ENST00000422544.2_Silent_p.L3L|PDGFC_ENST00000541126.1_5'UTR NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 3 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) GAAGCCCGAAGAGGCTCATTT 0.592000 OREG0016375 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 17 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112989720 112989720 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:112989720A>T ENST00000495514.1 + 6 1300 c.596A>T c.(595-597)aAg>aTg p.K199M BOC_ENST00000355385.3_Missense_Mutation_p.K199M|BOC_ENST00000273395.4_Missense_Mutation_p.K199M Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 199 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GGCATGTACAAGTGTGCAGCC 0.607000 14 75 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106062002 106062002 + Splice_Site SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:106062002T>A ENST00000357242.5 + 2 414 c.240T>A c.(238-240)tgT>tgA p.C80* TBC1D8B_ENST00000276175.3_Splice_Site_p.C80*|TBC1D8B_ENST00000481617.2_Splice_Site_p.C80*|TBC1D8B_ENST00000310452.2_Splice_Site_p.C80* NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 80 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CAATTGCATGTGGTGAGTATG 0.338000 27 55 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56348478 56348478 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:56348478A>T ENST00000348428.3 + 2 544 c.286A>T c.(286-288)Atg>Ttg p.M96L RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.M96L NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 96 Death. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GCTGAAGTTAATGGGTGAAAA 0.478000 T BIRC3 MALT 9 53 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20444282 20444282 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:20444282A>G ENST00000222573.4 + 11 2403 c.1719A>G c.(1717-1719)caA>caG p.Q573Q ITGB8_ENST00000537992.1_Silent_p.Q438Q NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCAGATGCCAATGCTTCAGTG 0.527000 6 16 0 0 1 0 0 CSN1S1 1446 broad.mit.edu 37 4 70799954 70799954 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:70799954C>A ENST00000246891.4 + 3 125 c.76C>A c.(76-78)Cgc>Agc p.R26S CSN1S1_ENST00000505782.1_Missense_Mutation_p.R26S|CSN1S1_ENST00000507772.1_Missense_Mutation_p.R26S|CSN1S1_ENST00000444405.3_Missense_Mutation_p.R26S|CSN1S1_ENST00000507763.1_Missense_Mutation_p.R26S NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 26 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 ATACCCAGAACGCCTTCAGGT 0.338000 8 41 2.17888e-05 2.28643e-05 1 1 0 PLAUR 5329 broad.mit.edu 37 19 44156405 44156405 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:44156405A>G ENST00000221264.4 - 5 1017 c.591T>C c.(589-591)aaT>aaC p.N197N PLAUR_ENST00000340093.3_Silent_p.N242N|PLAUR_ENST00000601723.1_Intron|PLAUR_ENST00000339082.3_Silent_p.N242N NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 242 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) CCAGACATTGATTCATGGGGC 0.577000 OREG0025532 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 32 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52238888 52238888 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:52238888T>G ENST00000394965.2 + 6 1117 c.757T>G c.(757-759)Tac>Gac p.Y253D ALAS1_ENST00000484952.1_Missense_Mutation_p.Y253D|ALAS1_ENST00000310271.2_Missense_Mutation_p.Y253D|ALAS1_ENST00000469224.1_Missense_Mutation_p.Y253D NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 253 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGTAATGACTACCTAGGAAT 0.468000 19 27 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32332915 32332915 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:32332915A>T ENST00000375200.1 + 3 514 c.149A>T c.(148-150)gAg>gTg p.E50V ZNF341_ENST00000342427.2_Missense_Mutation_p.E50V NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCAGATGACGAGGATGTATTT 0.507000 15 24 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933237 48933237 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:48933237A>T ENST00000356463.3 - 9 1133 c.695T>A c.(694-696)cTg>cAg p.L232Q AF196779.12_ENST00000376358.3_Missense_Mutation_p.L129Q|WDR45_ENST00000376372.3_Missense_Mutation_p.L231Q|WDR45_ENST00000485908.1_Missense_Mutation_p.L196Q|WDR45_ENST00000322995.8_Missense_Mutation_p.L242Q|WDR45_ENST00000553851.1_Missense_Mutation_p.L129Q|WDR45_ENST00000473974.1_Missense_Mutation_p.L231Q|WDR45_ENST00000376368.2_Missense_Mutation_p.L232Q|WDR45_ENST00000396681.4_Missense_Mutation_p.L231Q NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 231 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 GCCTCGGCGCAGCTCCACCAG 0.572000 3 25 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117815188 117815188 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:117815188T>C ENST00000276204.6 + 50 5913 c.5839T>C c.(5839-5841)Ttg>Ctg p.L1947L DOCK11_ENST00000276202.7_Silent_p.L1947L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1947 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CCAACTTAAATTGCAGGGCTG 0.403000 17 75 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51050454 51050454 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:51050454A>G ENST00000396153.2 - 10 1321 c.870T>C c.(868-870)gaT>gaC p.D290D FAF1_ENST00000371778.4_Silent_p.D290D|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Silent_p.D48D NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 290 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTCCATCGCTATCACTAACCA 0.368000 16 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061380 9061380 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:9061380G>C ENST00000397910.4 - 3 26269 c.26066C>G c.(26065-26067)aCa>aGa p.T8689R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8691 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGAGTTGATGTGGAAACACT 0.478000 9 34 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12446339 12446339 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:12446339C>T ENST00000358136.3 + 60 11710 c.11580C>T c.(11578-11580)caC>caT p.H3860H VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.H3835H NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3859 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCAATGTGCACTATACACAGC 0.438000 18 52 0 0 1 0 0 CA7 766 broad.mit.edu 37 16 66881028 66881028 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:66881028C>T ENST00000338437.2 + 2 245 c.136C>T c.(136-138)Ctg>Ttg p.L46L CA7_ENST00000394069.3_5'UTR|RP11-61A14.1_ENST00000551187.1_RNA NM_005182.2 NP_005173.1 P43166 CAH7_HUMAN carbonic anhydrase VII 46 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CTCTCCCAGCCTGCAACCACT 0.552000 3 14 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75812331 75812331 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:75812331G>A ENST00000322507.8 - 56 8706 c.8397C>T c.(8395-8397)ctC>ctT p.L2799L COL12A1_ENST00000345356.6_Silent_p.L1635L|COL12A1_ENST00000416123.2_Silent_p.L2723L|COL12A1_ENST00000483888.2_Silent_p.L2799L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2799 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCGGAATAGAGAGTCCATTGG 0.478000 11 11 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043653 184043653 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:184043653C>T ENST00000342981.4 + 20 3553 c.3139C>T c.(3139-3141)Ctt>Ttt p.L1047F EIF4G1_ENST00000434061.2_Missense_Mutation_p.L851F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L882F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1053F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1007F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1046F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1053F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L960F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L850F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1006F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1053F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1046F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L959F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L883F NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1046 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGGACTTCCCCTTGTGGATGA 0.552000 49 99 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074148 9074148 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:9074148C>A ENST00000397910.4 - 3 13501 c.13298G>T c.(13297-13299)aGc>aTc p.S4433I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4435 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGACCTTTGCTTATGAGAGT 0.488000 16 65 4.7546e-09 5.1012e-09 1 1 0 TFRC 7037 broad.mit.edu 37 3 195794479 195794479 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:195794479T>C ENST00000360110.4 - 9 1119 c.950A>G c.(949-951)aAt>aGt p.N317S TFRC_ENST00000392396.3_Missense_Mutation_p.N317S|TFRC_ENST00000420415.1_Missense_Mutation_p.N236S|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.N35S NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 317 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CTGAGTGTGATTGAAGGAAGG 0.453000 T BCL6 NHL 8 36 0 0 1 0 0 NAE1 8883 broad.mit.edu 37 16 66839882 66839882 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:66839882A>G ENST00000379463.2 - 19 1552 c.1360T>C c.(1360-1362)Tgt>Cgt p.C454R NAE1_ENST00000359087.4_Missense_Mutation_p.C463R|NAE1_ENST00000394074.2_Missense_Mutation_p.C371R|NAE1_ENST00000290810.3_Missense_Mutation_p.C460R NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 460 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) CCAGTGAGACAAGACTTCAAC 0.308000 46 84 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5058527 5058527 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:5058527C>T ENST00000251170.7 + 14 1858 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 560 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GGCGCCCAGGCTGGGCGCCCG 0.652000 11 24 0 0 1 0 0 TXLNG 55787 broad.mit.edu 37 X 16857987 16857987 + Nonsense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:16857987G>A ENST00000380122.5 + 9 1257 c.1196G>A c.(1195-1197)tGg>tAg p.W399* TXLNG_ENST00000398155.4_Nonsense_Mutation_p.W267*|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 399 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 ACAATAATTTGGCGTACCAAA 0.373000 25 62 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771731 24771731 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:24771731C>T ENST00000221166.5 + 1 1207 c.425C>T c.(424-426)tCg>tTg p.S142L NEFM_ENST00000518131.1_Missense_Mutation_p.S142L|NEFM_ENST00000437366.2_Missense_Mutation_p.S142L|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA P07197 NFM_HUMAN neurofilament, medium polypeptide 142 Linker 1.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAGCAGGCCTCGCACGCCCAG 0.632000 5 5 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20418897 20418897 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:20418897C>T ENST00000222573.4 + 4 1296 c.612C>T c.(610-612)ccC>ccT p.P204P ITGB8_ENST00000537992.1_Silent_p.P69P NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCATCCACCCCGAAAGGATTC 0.338000 14 50 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230587 147230587 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:147230587A>T ENST00000271348.2 - 2 921 c.760T>A c.(760-762)Tct>Act p.S254T GJA5_ENST00000369237.1_Missense_Mutation_p.S254T NM_005266.5 NP_005257.2 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 254 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) ATGCCCACAGAGGGGCCAGAA 0.537000 13 56 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153032 105153032 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:105153032G>A ENST00000428173.2 + 13 1705 c.1402G>A c.(1402-1404)Gca>Aca p.A468T NRK_ENST00000243300.9_Missense_Mutation_p.A467T Q7Z2Y5 NRK_HUMAN Nik related kinase 467 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GCAGATTAAGGCACCTCCACG 0.547000 HNSCC(51;0.14) 10 12 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 74 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24567720 24567720 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:24567720G>C ENST00000398319.2 + 34 6182 c.5797G>C c.(5797-5799)Gac>Cac p.D1933H CABIN1_ENST00000263119.5_Missense_Mutation_p.D1933H|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.D358H|CABIN1_ENST00000405822.2_Missense_Mutation_p.D1854H NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1933 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCACCCCAAAGACAGCCGAGA 0.617000 14 34 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79896509 79896509 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:79896509T>A ENST00000438737.2 - 21 3349 c.2909A>T c.(2908-2910)gAa>gTa p.E970V RBM26_ENST00000267229.7_Missense_Mutation_p.E943V|RBM26_ENST00000438724.1_Missense_Mutation_p.E946V Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 970 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CTCAACTTCTTCTGTTTCAAC 0.333000 9 69 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45928984 45928984 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:45928984G>A ENST00000348697.2 + 6 733 c.586G>A c.(586-588)Gag>Aag p.E196K FBLN1_ENST00000327858.6_Missense_Mutation_p.E196K|FBLN1_ENST00000262722.7_Missense_Mutation_p.E196K|FBLN1_ENST00000402984.3_Missense_Mutation_p.E234K|FBLN1_ENST00000340923.5_Missense_Mutation_p.E196K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E196K P23142 FBLN1_HUMAN fibulin 1 196 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CACGGGTGACGAGGTGGTCTG 0.632000 12 14 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75512818 75512818 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:75512818G>A ENST00000332272.4 - 3 1088 c.909C>T c.(907-909)atC>atT p.I303I CHST6_ENST00000390664.2_Silent_p.I303I|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 303 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGATGTTATGGATCCAGGCCT 0.647000 13 35 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265344 42265344 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:42265344C>T ENST00000199764.6 + 3 830 c.612C>T c.(610-612)agC>agT p.S204S AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 204 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CTCTACTCAGCGTCAAAAGGA 0.527000 72 144 0 0 1 0 0 TCHP 84260 broad.mit.edu 37 12 110344424 110344424 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:110344424G>A ENST00000312777.5 + 5 718 c.504G>A c.(502-504)atG>atA p.M168I TCHP_ENST00000405876.4_Missense_Mutation_p.M168I NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 168 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 CTTGGGAAATGCAGAAAGAAG 0.483000 4 17 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756426 248756426 + Nonsense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:248756426G>T ENST00000330500.2 - 1 674 c.644C>A c.(643-645)tCa>tAa p.S215* NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTAAGACACTGAAATGACCGT 0.458000 11 67 3.86212e-05 4.03065e-05 1 1 0 BPI 671 broad.mit.edu 37 20 36937449 36937449 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:36937449A>G ENST00000262865.4 + 3 464 c.375A>G c.(373-375)caA>caG p.Q125Q CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 125 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) GGAAGGCACAAAAGAGATTCT 0.488000 13 47 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92920265 92920265 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:92920265G>A ENST00000532405.1 + 11 1128 c.902G>A c.(901-903)gGc>gAc p.G301D SLC24A4_ENST00000531433.1_Missense_Mutation_p.G282D|SLC24A4_ENST00000393265.2_Missense_Mutation_p.G237D|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000298877.1_Missense_Mutation_p.G284D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G265D Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 301 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCACAGTATGGCAAGAACCCC 0.522000 3 36 0 0 1 0 0 DBNDD2 55861 broad.mit.edu 37 20 44037139 44037139 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:44037139G>A ENST00000372712.2 + 2 613 c.32G>A c.(31-33)cGc>cAc p.R11H DBNDD2_ENST00000372722.3_Missense_Mutation_p.R11H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R11H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R11H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R11H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R109H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R11H|SYS1-DBNDD2_ENST00000452133.1_3'UTR Q9BQY9 DBND2_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 2 109 negative regulation of protein kinase activity cytoplasm protein binding breast(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) GCCCTGGAGCGCCAGCAGCTC 0.557000 19 37 0 0 1 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439743 51439743 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:51439743G>A ENST00000262662.1 + 4 2342 c.308G>A c.(307-309)gGg>gAg p.G103E CDKN2C_ENST00000371761.3_Missense_Mutation_p.G103E|CDKN2C_ENST00000396148.1_Missense_Mutation_p.G103E P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 103 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) GATAATGAAGGGAACCTGCCC 0.532000 D """glioma, MM""" 9 31 0 0 1 0 0 FAM81A 145773 broad.mit.edu 37 15 59808884 59808884 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:59808884T>A ENST00000288228.5 + 8 1014 c.827T>A c.(826-828)aTg>aAg p.M276K NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 276 endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 CTCAGCCAGATGTCAGCCAGG 0.448000 7 16 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 3 37 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71640936 71640936 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:71640936G>A ENST00000226328.4 + 7 1373 c.810G>A c.(808-810)ctG>ctA p.L270L RUFY3_ENST00000381006.3_Silent_p.L270L|RUFY3_ENST00000417478.2_Silent_p.L330L|RUFY3_ENST00000536664.1_Silent_p.L254L|RUFY3_ENST00000502653.1_Silent_p.L217L NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 270 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) TAGAAGAACTGAACAGACATT 0.343000 20 87 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35646888 35646888 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:35646888G>A ENST00000440995.2 + 5 705 c.705G>A c.(703-705)atG>atA p.M235I SPEF2_ENST00000509059.1_Missense_Mutation_p.M235I|SPEF2_ENST00000282469.6_Missense_Mutation_p.M235I|SPEF2_ENST00000356031.3_Missense_Mutation_p.M235I Q9C093 SPEF2_HUMAN sperm flagellar 2 235 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAAAATGATGAAAAAGAAAA 0.343000 13 117 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163027 141163027 + Silent SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:141163027A>C ENST00000514251.1 + 4 2076 c.1797A>C c.(1795-1797)gcA>gcC p.A599A ZBTB38_ENST00000441582.2_Silent_p.A599A|ZBTB38_ENST00000321464.5_Silent_p.A600A Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 599 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 ATGAGTCTGCACCTGGTACCT 0.433000 29 47 0 0 1 0 0 MSTN 2660 broad.mit.edu 37 2 190927242 190927242 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:190927242A>G ENST00000260950.4 - 1 213 c.81T>C c.(79-81)agT>agC p.S27S C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 27 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) CTTTTTGCTCACTGTTCTCAT 0.338000 42 76 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105463582 105463582 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:105463582C>T ENST00000351513.2 - 2 447 c.315G>A c.(313-315)caG>caA p.Q105Q NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 105 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCCACCTTTCTGAGGAATGG 0.488000 6 23 0 0 1 0 0 KLHDC3 116138 broad.mit.edu 37 6 42986228 42986228 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:42986228A>G ENST00000326974.4 + 6 862 c.667A>G c.(667-669)Act>Gct p.T223A KLHDC3_ENST00000244670.8_Missense_Mutation_p.T89A|KLHDC3_ENST00000332245.8_Missense_Mutation_p.T164A NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 223 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGACACCAGAACTGAGGCTTG 0.562000 52 38 0 0 1 0 0 SRPK3 26576 broad.mit.edu 37 X 153047009 153047009 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:153047009C>T ENST00000489426.1 + 9 2807 c.441C>T c.(439-441)caC>caT p.H147H SRPK3_ENST00000370104.1_Silent_p.H80H|SRPK3_ENST00000393786.3_Silent_p.H80H|SRPK3_ENST00000370100.1_Silent_p.H38H|SRPK3_ENST00000370108.3_Silent_p.H80H|SRPK3_ENST00000370101.3_Silent_p.H80H Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 80 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity p.H80H(1)|p.H147H(1) breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGGTACCACGTGGTGCGCA 0.657000 10 13 0 0 1 0 0 OMA1 115209 broad.mit.edu 37 1 58971754 58971754 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:58971754T>C ENST00000371226.3 - 8 1456 c.1343A>G c.(1342-1344)tAc>tGc p.Y448C OMA1_ENST00000358603.2_Missense_Mutation_p.Y448C|DAB1_ENST00000485760.1_5'UTR NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 448 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TCTATCCAAGTACTCAACTCG 0.428000 18 32 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5238879 5238879 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:5238879C>G ENST00000380448.1 + 3 302 c.49C>G c.(49-51)Ccc>Gcc p.P17A AKR1C4_ENST00000263126.1_Missense_Mutation_p.P17A|AKR1CL1_ENST00000445191.1_Intron P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 17 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TCACTTCATGCCCGTATTGGG 0.428000 30 68 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436766 42436766 + Silent SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:42436766G>T ENST00000397272.3 - 17 1954 c.1863C>A c.(1861-1863)tcC>tcA p.S621S PLA2G4F_ENST00000382396.4_Silent_p.S619S NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 619 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCACAGCCTGGGAGAAGGGCC 0.612000 5 23 0.00198382 0.00202618 1 1 0 LRBA 987 broad.mit.edu 37 4 151773618 151773618 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:151773618T>C ENST00000535741.1 - 23 3717 c.3244A>G c.(3244-3246)Ata>Gta p.I1082V LRBA_ENST00000357115.3_Missense_Mutation_p.I1082V|LRBA_ENST00000510413.1_Missense_Mutation_p.I1082V|LRBA_ENST00000507224.1_Missense_Mutation_p.I1082V P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1082 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GGAGAACTTATAGAAGCAGTT 0.368000 14 43 0 0 1 0 0 KLHL9 55958 broad.mit.edu 37 9 21334821 21334821 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:21334821G>A ENST00000359039.4 - 1 558 c.38C>T c.(37-39)tCt>tTt p.S13F KLHL9_ENST00000537938.1_Intron Q9P2J3 KLHL9_HUMAN kelch-like family member 9 13 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CAAATGGGCAGAGACGCCCAT 0.453000 10 32 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96800058 96800058 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:96800058C>T ENST00000359933.4 - 8 2067 c.1174G>A c.(1174-1176)Gag>Aag p.E392K NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 392 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GTTTCTGTCTCATAAAAGCTT 0.373000 18 51 0 0 1 0 0 NAT8L 339983 broad.mit.edu 37 4 2062800 2062800 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:2062800A>G ENST00000423729.2 + 2 452 c.452A>G c.(451-453)tAc>tGc p.Y151C NAT8L_ENST00000331662.3_5'UTR NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 151 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) CTGCGCTACTACTACAGCCGC 0.697000 3 12 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10190617 10190617 + Silent SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:10190617G>T ENST00000377157.3 + 12 2081 c.1020G>T c.(1018-1020)ctG>ctT p.L340L UBE4B_ENST00000343090.6_Silent_p.L585L|UBE4B_ENST00000253251.8_Silent_p.L456L|UBE4B_ENST00000475795.1_3'UTR NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 585 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GGCGGGAGCTGCAGAGACTCT 0.488000 62 120 4.88506e-25 5.46593e-25 1 1 0 SEL1L3 23231 broad.mit.edu 37 4 25783923 25783923 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:25783923A>G ENST00000399878.3 - 15 2520 c.2398T>C c.(2398-2400)Tac>Cac p.Y800H SEL1L3_ENST00000502949.1_Missense_Mutation_p.Y647H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.Y765H NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 800 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CCAAGATTGTATGACGCATCT 0.458000 41 94 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144844193 144844193 + Silent SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:144844193A>T ENST00000367545.3 + 40 5775 c.5775A>T c.(5773-5775)gcA>gcT p.A1925A NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1925 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGCAGATTGCAGTCATTCATG 0.378000 16 28 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150321667 150321667 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:150321667A>C ENST00000324862.6 + 15 2043 c.1878A>C c.(1876-1878)aaA>aaC p.K626N PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K577N NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 626 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CTGTGAAGAAAACCAACAAAT 0.358000 27 59 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166019292 166019292 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:166019292A>G ENST00000360093.3 - 8 1232 c.741T>C c.(739-741)ctT>ctC p.L247L SCN3A_ENST00000409101.3_Silent_p.L247L|SCN3A_ENST00000283254.7_Silent_p.L247L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 247 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCACATCAGAAAGCTTCTTTA 0.468000 14 70 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190426706 190426706 + Nonsense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:190426706A>T ENST00000261024.2 - 8 2040 c.1614T>A c.(1612-1614)taT>taA p.Y538* NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 538 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CAAATCGGAAATACATAATGT 0.418000 12 23 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21842333 21842333 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:21842333C>T ENST00000382254.1 - 8 1837 c.751G>A c.(751-753)Gga>Aga p.G251R CDH12_ENST00000522262.1_Missense_Mutation_p.G211R|CDH12_ENST00000504376.2_Missense_Mutation_p.G251R|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 251 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G251R(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 ATTGTTGTTCCGGCTAATCCT 0.428000 HNSCC(59;0.17) 6 89 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223178 35223178 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:35223178C>A ENST00000338513.1 + 2 420 c.247C>A c.(247-249)Ctg>Atg p.L83M NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 83 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) GCAGCTTATCCTGGTGACATG 0.612000 10 37 0.010729 0.0108807 1 1 0 PLEC 5339 broad.mit.edu 37 8 144995667 144995667 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:144995667G>A ENST00000322810.4 - 32 8902 c.8733C>T c.(8731-8733)gtC>gtT p.V2911V PLEC_ENST00000527096.1_Silent_p.V2797V|PLEC_ENST00000354589.3_Silent_p.V2774V|PLEC_ENST00000436759.2_Silent_p.V2801V|PLEC_ENST00000398774.2_Silent_p.V2742V|PLEC_ENST00000356346.3_Silent_p.V2760V|PLEC_ENST00000345136.3_Silent_p.V2774V|PLEC_ENST00000354958.2_Silent_p.V2752V|PLEC_ENST00000357649.2_Silent_p.V2778V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2911 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGTAGCCAGTGACGGCGCGCT 0.662000 13 51 0 0 1 0 0 UCHL3 7347 broad.mit.edu 37 13 76141411 76141411 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:76141411G>T ENST00000377595.3 + 5 419 c.389G>T c.(388-390)aGc>aTc p.S130I RP11-29G8.3_ENST00000563635.1_RNA NM_001270952.1|NM_006002.4 NP_001257881.1|NP_005993.1 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 130 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity kidney(1)|large_intestine(2)|lung(3)|skin(1) 7 GBM - Glioblastoma multiforme(99;0.0125) GTGTCAATGAGCCCTGAAGAA 0.403000 18 48 9.7654e-05 0.000101179 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98503868 98503868 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:98503868G>A ENST00000359863.4 + 13 1314 c.1105G>A c.(1105-1107)Gag>Aag p.E369K TRRAP_ENST00000446306.3_Missense_Mutation_p.E369K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E369K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 369 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TACTGCCAGAGAGACTCTAAG 0.408000 6 51 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36336720 36336720 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:36336720C>T ENST00000242108.4 + 7 2152 c.1434C>T c.(1432-1434)atC>atT p.I478I EEPD1_ENST00000534978.1_Silent_p.I478I NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 478 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 TCACCAACATCAGCACCAAGA 0.483000 16 24 0 0 1 0 0 MAD2L1BP 9587 broad.mit.edu 37 6 43604272 43604272 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:43604272A>C ENST00000451025.2 + 3 507 c.297A>C c.(295-297)gaA>gaC p.E99D MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.E67D|MAD2L1BP_ENST00000508232.1_3'UTR NM_001003690.1 NP_001003690.1 Q15013 MD2BP_HUMAN MAD2L1 binding protein 67 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding breast(1)|large_intestine(1)|lung(3) 5 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TGAGCCAGGAAGGCTGCTGTC 0.502000 27 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584827 179584827 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:179584827C>G ENST00000589042.1 - 81 23766 c.23542G>C c.(23542-23544)Gat>Cat p.D7848H TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6604H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7531H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7531 Ig-like 60. 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) GCAATGTTATCAATGAATGAA 0.438000 12 42 0 0 1 0 0 SGMS2 166929 broad.mit.edu 37 4 108817118 108817118 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:108817118A>G ENST00000394684.4 + 3 966 c.409A>G c.(409-411)Ata>Gta p.I137V SGMS2_ENST00000394686.3_Missense_Mutation_p.I137V|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.I137V NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 137 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) AAATGGGATTATATTAGTTGG 0.383000 23 40 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527594 23527594 + Silent SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:23527594A>C ENST00000296682.3 + 11 2579 c.2397A>C c.(2395-2397)acA>acC p.T799T NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 799 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGACACACACAGGGGAGAAGC 0.567000 HNSCC(3;0.000094) 44 102 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101834475 101834475 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:101834475G>A ENST00000263468.8 + 6 2979 c.2709G>A c.(2707-2709)gcG>gcA p.A903A KIAA1377_ENST00000537689.1_Silent_p.A704A NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 903 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GGCAAGATGCGACATTATATT 0.413000 28 67 0 0 1 0 0 STK39 27347 broad.mit.edu 37 2 168994608 168994608 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:168994608G>C ENST00000355999.4 - 8 1669 c.964C>G c.(964-966)Cct>Gct p.P322A NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 322 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 CTTTTGGAAGGATCTTTCTGA 0.403000 6 48 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204216508 204216508 + Silent SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:204216508G>C ENST00000272203.3 - 13 2221 c.1905C>G c.(1903-1905)ctC>ctG p.L635L PLEKHA6_ENST00000414478.1_Silent_p.L655L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 635 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TGTCCAAATTGAGCTGCTCCC 0.567000 6 15 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599813 123599813 + Silent SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:123599813C>G ENST00000340011.5 + 5 1677 c.1320C>G c.(1318-1320)acC>acG p.T440T SPAM1_ENST00000223028.7_Silent_p.T440T|SPAM1_ENST00000460182.1_Silent_p.T440T|SPAM1_ENST00000402183.2_Silent_p.T440T|SPAM1_ENST00000439500.1_Silent_p.T440T NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 440 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GTTATAGCACCTTGAGTTGTA 0.398000 20 40 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84055990 84055990 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:84055990C>A ENST00000369705.3 - 5 618 c.502G>T c.(502-504)Ggc>Tgc p.G168C ME1_ENST00000541327.1_Missense_Mutation_p.G2C|ME1_ENST00000543031.1_Missense_Mutation_p.G93C NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 168 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) ACAGGGATGCCCATTCCATTA 0.448000 16 38 3.45872e-05 3.62282e-05 1 1 0 DCAF13 25879 broad.mit.edu 37 8 104442886 104442886 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:104442886A>G ENST00000297579.5 + 6 1404 c.1127A>G c.(1126-1128)tAc>tGc p.Y376C DCAF13_ENST00000521999.1_3'UTR NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 224 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 ATAGTACTGTACGATATGAGG 0.373000 42 86 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96535280 96535280 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:96535280G>C ENST00000371321.3 + 3 547 c.465G>C c.(463-465)gaG>gaC p.E155D CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 155 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGTGGAGGAGTTGAGAAAAA 0.522000 17 98 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50036917 50036917 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:50036917G>A ENST00000443081.1 + 6 2051 c.1132G>A c.(1132-1134)Gat>Aat p.D378N RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D510N P78332 RBM6_HUMAN RNA binding motif protein 6 510 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACTCTTGGAAGATGCCATCGG 0.448000 34 90 0 0 1 0 0 KLRC4 8302 broad.mit.edu 37 12 10562131 10562131 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:10562131T>C ENST00000309384.1 - 1 225 c.44A>G c.(43-45)cAg>cGg p.Q15R KLRC4-KLRK1_ENST00000539300.1_Silent_p.P6P NM_013431.2 NP_038459.1 O43908 NKG2F_HUMAN killer cell lectin-like receptor subfamily C, member 4 15 cellular defense response integral to membrane binding|receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 CTTTGGGTCCTGGGCCAGACT 0.418000 26 45 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651495 77651495 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:77651495T>C ENST00000461745.1 + 20 3889 c.2989T>C c.(2989-2991)Tat>Cat p.Y997H ROBO2_ENST00000487694.3_Missense_Mutation_p.Y1013H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y997H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 997 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGCTACCCCATATGCCACGAC 0.433000 15 33 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466020 160466020 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:160466020T>A ENST00000368059.3 - 2 282 c.213A>T c.(211-213)aaA>aaT p.K71N SLAMF6_ENST00000368057.3_Missense_Mutation_p.K71N|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 71 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TTTCTGGACTTTTGGTTTCAT 0.468000 37 63 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9009144 9009144 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:9009144C>T ENST00000344836.4 - 10 1243 c.1045G>A c.(1045-1047)Gat>Aat p.D349N USP7_ENST00000381886.4_Missense_Mutation_p.D333N|USP7_ENST00000535863.1_Missense_Mutation_p.D250N NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 349 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 AGCTGGATATCATAATAATCT 0.308000 6 79 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123210198 123210198 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:123210198T>A ENST00000371160.1 + 26 2840 c.2550T>A c.(2548-2550)gaT>gaA p.D850E STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.D850E|STAG2_ENST00000371157.3_Missense_Mutation_p.D850E|STAG2_ENST00000371144.3_Missense_Mutation_p.D850E|STAG2_ENST00000371145.3_Missense_Mutation_p.D850E|STAG2_ENST00000354548.5_Missense_Mutation_p.D781E NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 850 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 AGCAAGAGGATGAAGCCAGTA 0.348000 12 74 0 0 1 0 0 GPCPD1 56261 broad.mit.edu 37 20 5556513 5556513 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:5556513T>A ENST00000379019.4 - 9 1029 c.817A>T c.(817-819)Act>Tct p.T273S GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 273 T -> I (in dbSNP:rs2273373). glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 ATGGGAAGAGTAAGAATTCCA 0.443000 15 62 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123109109 123109109 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:123109109T>C ENST00000264501.4 + 9 1060 c.687T>C c.(685-687)gaT>gaC p.D229D KIAA1109_ENST00000388738.3_Silent_p.D229D|KIAA1109_ENST00000455637.1_Silent_p.D229D Q2LD37 K1109_HUMAN KIAA1109 229 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACTTTGATGATGCTTTCTTAA 0.348000 27 57 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100203987 100203987 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:100203987T>G ENST00000355295.4 + 6 980 c.685T>G c.(685-687)Tct>Gct p.S229A TDRD7_ENST00000422139.2_Missense_Mutation_p.S155A NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 229 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GCCTCCTGCCTCTTACACTTA 0.284000 23 27 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152512506 152512506 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:152512506T>A ENST00000427231.2 - 50 6729 c.6527A>T c.(6526-6528)tAc>tTc p.Y2176F NEB_ENST00000409198.1_Missense_Mutation_p.Y2176F|NEB_ENST00000604864.1_Missense_Mutation_p.Y2176F|NEB_ENST00000172853.10_Missense_Mutation_p.Y2176F|NEB_ENST00000603639.1_Missense_Mutation_p.Y2176F|NEB_ENST00000397345.3_Missense_Mutation_p.Y2176F NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 2176 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AAGCCCTTTGTACCATTCATT 0.413000 13 29 0 0 1 0 0 IL36RN 26525 broad.mit.edu 37 2 113820167 113820167 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:113820167C>T ENST00000393200.2 + 5 542 c.381C>T c.(379-381)gcC>gcT p.A127A IL36RN_ENST00000346807.3_Silent_p.A127A NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 127 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TGCCTGAAGCCGATCAGCCTG 0.607000 5 32 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6609684 6609684 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:6609684T>C ENST00000377705.5 - 3 723 c.691A>G c.(691-693)Act>Gct p.T231A NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 231 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) AAGTTTACAGTGGCAGTTTTC 0.398000 12 72 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923806 24923806 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:24923806C>T ENST00000329468.2 + 1 3266 c.2792C>T c.(2791-2793)cCt>cTt p.P931L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTAACATCTCCTTCAGTCCAG 0.493000 14 56 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202899695 202899695 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:202899695G>A ENST00000286201.1 + 1 386 c.325G>A c.(325-327)Gtg>Atg p.V109M NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 109 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GTATGCGCCCGTGTGCACCGT 0.627000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 38 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71697814 71697814 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:71697814G>A ENST00000568954.1 - 13 2351 c.1973C>T c.(1972-1974)aCc>aTc p.T658I RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T693I|PHLPP2_ENST00000393524.2_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T658I|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T658I Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 658 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGCAGGAAAGGTCTGTAACTG 0.398000 19 31 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150924130 150924130 + Silent SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:150924130G>C ENST00000261800.5 - 9 6570 c.6558C>G c.(6556-6558)ctC>ctG p.L2186L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2186 Cadherin 19. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGGGTATAGAGGGTGATAT 0.478000 33 61 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32906895 32906895 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:32906895A>G ENST00000544455.1 + 10 1507 c.1280A>G c.(1279-1281)gAc>gGc p.D427G BRCA2_ENST00000380152.3_Missense_Mutation_p.D427G NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 427 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCAGAAAAAGACCTATTAGAC 0.358000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 49 84 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152083771 152083771 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:152083771T>C ENST00000368804.1 - 2 1921 c.1922A>G c.(1921-1923)gAg>gGg p.E641G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 641 9 X 28 AA approximate 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) CTGGCGCCTCTCCTCCTGCTC 0.677000 16 53 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76554236 76554236 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:76554236C>G ENST00000389840.5 - 14 2256 c.2132G>C c.(2131-2133)cGg>cCg p.R711P DNAH17_ENST00000585328.1_Missense_Mutation_p.R711P dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CACAAACTTCCGGAAAGTTTC 0.448000 11 6 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71148261 71148261 + Translation_Start_Site SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:71148261T>C ENST00000440835.2 - 0 180 PTPRR_ENST00000342084.4_Intron|PTPRR_ENST00000378778.1_Intron|PTPRR_ENST00000283228.2_Intron|PTPRR_ENST00000549308.1_Intron NM_130846.2 NP_570897.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CATCCTTATATATCGAGATTA 0.483000 7 15 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194159647 194159647 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:194159647T>C ENST00000439040.1 - 17 2556 c.1765A>G c.(1765-1767)Aca>Gca p.T589A ATP13A3_ENST00000256031.4_Missense_Mutation_p.T589A Q9H7F0 AT133_HUMAN ATPase type 13A3 589 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CGAACCACTGTGGGCATAATT 0.383000 13 58 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656503 240656503 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:240656503G>A ENST00000318160.4 - 2 539 c.273C>T c.(271-273)acC>acT p.T91T NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 91 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GGTTGAGGATGGTGCGGCTCC 0.637000 11 37 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111020173 111020173 + Nonsense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:111020173T>A ENST00000262839.2 - 11 3208 c.2290A>T c.(2290-2292)Aga>Tga p.R764* NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 764 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGATGTTTTCTATTTCCCAAG 0.453000 38 236 0 0 1 0 0 THTPA 79178 broad.mit.edu 37 14 24027994 24027994 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:24027994A>G ENST00000288014.6 + 2 1374 c.638A>G c.(637-639)aAc>aGc p.N213S RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.N213S|THTPA_ENST00000554970.1_Missense_Mutation_p.N123S|THTPA_ENST00000556015.1_3'UTR|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554789.1_3'UTR Q9BU02 THTPA_HUMAN thiamine triphosphatase 213 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) CTAGAAGTGAACAGCTCCAGA 0.552000 OREG0022604 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 23 0 0 1 0 0 LLGL1 3996 broad.mit.edu 37 17 18145297 18145297 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:18145297G>A ENST00000316843.4 + 19 2962 c.2866G>A c.(2866-2868)Gat>Aat p.D956N NM_004140.3 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 956 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) CTGGCCCCGCGATGCCACCCA 0.612000 7 40 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134992292 134992292 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:134992292A>G ENST00000535938.1 + 15 1994 c.1827A>G c.(1825-1827)gcA>gcG p.A609A SAGE1_ENST00000537770.1_Silent_p.A233A|SAGE1_ENST00000370709.3_Silent_p.A609A|SAGE1_ENST00000324447.3_Silent_p.A609A NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 609 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TTAATATGGCAGCAACTGGTG 0.413000 29 98 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76427352 76427352 + Nonsense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:76427352C>T ENST00000357063.3 + 29 5905 c.4645C>T c.(4645-4647)Cag>Tag p.Q1549* LMO7_ENST00000321797.8_Nonsense_Mutation_p.Q1264*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q1215*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q1141*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q1264*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q1549* Q8WWI1 LMO7_HUMAN LIM domain 7 1549 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CCCACCACCTCAGCTGGTGTC 0.587000 7 29 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24507310 24507310 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:24507310C>T ENST00000327535.1 - 2 105 c.93G>A c.(91-93)acG>acA p.T31T IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000374418.3_Silent_p.T31T|IFNLR1_ENST00000327575.2_Silent_p.T31T|IFNLR1_ENST00000374421.3_Silent_p.T31T NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 GGGAGAGCAGCGTCACATTCT 0.602000 6 25 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152060567 152060567 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:152060567T>C ENST00000368806.1 - 2 117 c.53A>G c.(52-54)tAt>tGt p.Y18C NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 18 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTCACTGGCATATTTGTGGAA 0.463000 32 53 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48145609 48145609 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:48145609A>G ENST00000320031.8 + 4 934 c.604A>G c.(604-606)Agc>Ggc p.S202G ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.S202G NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 202 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 GCTGGGCACCAGCGGTGGCTT 0.592000 7 56 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68835597 68835597 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:68835597G>C ENST00000261769.5 + 3 379 c.188G>C c.(187-189)cGa>cCa p.R63P CDH1_ENST00000422392.2_Missense_Mutation_p.R63P|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 63 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGCACCGGTCGACAAAGGACA 0.453000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 27 94 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877271 24877271 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:24877271A>T ENST00000382554.3 + 3 713 c.395A>T c.(394-396)aAc>aTc p.N132I NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 132 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 ATGACACAGAACTGGCTGGAG 0.687000 15 35 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161438 25161438 + RNA SNP T T A rs3869320 by1000genomes TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:25161438T>A ENST00000453498.1 + 0 962 TPTE2P6_ENST00000440905.1_RNA CTCTTTATAATAAGATTCATT 0.378000 4 46 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150924174 150924174 + Nonsense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:150924174G>A ENST00000261800.5 - 9 6526 c.6514C>T c.(6514-6516)Cag>Tag p.Q2172* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2172 Cadherin 19. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAGGACTCTGAAACAGTGGG 0.488000 32 70 0 0 1 0 0 ZNF880 400713 broad.mit.edu 37 19 52887495 52887495 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:52887495T>C ENST00000422689.2 + 4 677 c.662T>C c.(661-663)tTc>tCc p.F221S NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 221 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GACAAGGTCTTCAGTAACAGT 0.393000 13 9 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30825274 30825274 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:30825274G>A ENST00000383096.3 - 15 1710 c.1528C>T c.(1528-1530)Cac>Tac p.H510Y CCDC178_ENST00000406524.2_Missense_Mutation_p.H510Y|CCDC178_ENST00000402325.1_Missense_Mutation_p.H510Y|CCDC178_ENST00000403303.1_Missense_Mutation_p.H510Y|CCDC178_ENST00000300227.8_Missense_Mutation_p.H510Y|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.H510Y|CCDC178_ENST00000583930.1_Missense_Mutation_p.H510Y coiled-coil domain containing 178 TTGGTTAGGTGGAAAAGAGTA 0.328000 6 14 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121228938 121228938 + Nonsense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:121228938C>T ENST00000264233.5 - 11 1892 c.1764G>A c.(1762-1764)tgG>tgA p.W588* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 588 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTTCTAGTAGCCACATCACAC 0.418000 DNA polymerases (catalytic subunits) 9 63 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86049847 86049847 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:86049847T>C ENST00000414626.2 + 14 3307 c.2418T>C c.(2416-2418)atT>atC p.I806I LRRCC1_ENST00000360375.3_Silent_p.I826I Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 826 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CTGAAACTATTAGAAAATTAA 0.313000 38 82 0 0 1 0 0 C8orf47 203111 broad.mit.edu 37 8 99101969 99101969 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:99101969G>A ENST00000318528.3 + 2 1083 c.724G>A c.(724-726)Gag>Aag p.E242K C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 242 Glu-rich. kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) AACAGCTGAAGAGCAGCAACT 0.443000 7 23 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28712133 28712133 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:28712133G>C ENST00000225719.4 + 2 949 c.873G>C c.(871-873)ttG>ttC p.L291F CPD_ENST00000543464.2_Missense_Mutation_p.L44F NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 291 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TTAAATACTTGGCAAAAGCTT 0.423000 20 100 0 0 1 0 0 C1orf63 57035 broad.mit.edu 37 1 25569143 25569143 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:25569143T>C ENST00000243189.7 - 5 1086 c.810A>G c.(808-810)gcA>gcG p.A270A C1orf63_ENST00000417642.2_Silent_p.A271A NM_020317.3 NP_064713.3 Q9BUV0 CA063_HUMAN chromosome 1 open reading frame 63 270 breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ATCTTGAAGATGCCTCTTCTG 0.363000 7 60 0 0 1 0 0 ZNF383 163087 broad.mit.edu 37 19 37734207 37734207 + Nonsense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:37734207C>T ENST00000589413.1 + 8 1652 c.1069C>T c.(1069-1071)Cag>Tag p.Q357* ZNF383_ENST00000352998.3_Nonsense_Mutation_p.Q357*|ZNF383_ENST00000590503.1_Nonsense_Mutation_p.Q357* Q8NA42 ZN383_HUMAN zinc finger protein 383 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACTAATCATCAGAGAATTCA 0.428000 31 49 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100091379 100091379 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:100091379C>T ENST00000423930.1 + 7 2541 c.2382C>T c.(2380-2382)atC>atT p.I794I NYAP1_ENST00000300179.2_Silent_p.I793I|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000454988.1_Silent_p.I737I Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 793 GCAAGGAGATCAAGGCGCGCC 0.736000 2 2 0 0 1 0 0 PPP1CB 5500 broad.mit.edu 37 2 29016737 29016737 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:29016737A>G ENST00000395366.2 + 7 1025 c.753A>G c.(751-753)gaA>gaG p.E251E SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Silent_p.E251E|PPP1CB_ENST00000296122.6_Silent_p.E251E NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 251 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) AGGTGGTGGAAGATGGATATG 0.388000 13 46 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 899856 899856 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:899856C>T ENST00000456758.2 + 20 2183 c.2183C>T c.(2182-2184)tCa>tTa p.S728L SUN1_ENST00000401592.1_Missense_Mutation_p.S539L|SUN1_ENST00000425407.2_Missense_Mutation_p.S456L|SUN1_ENST00000405266.1_Missense_Mutation_p.S576L|SUN1_ENST00000389574.3_Missense_Mutation_p.S456L|SUN1_ENST00000452783.2_Missense_Mutation_p.S436L|SUN1_ENST00000413514.2_Missense_Mutation_p.S337L O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 566 SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGGTTCTCATCACAGTTTGTG 0.532000 7 24 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9859372 9859372 + Translation_Start_Site SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:9859372A>T ENST00000397241.1 + 0 575 TTLL3_ENST00000427853.3_De_novo_Start_OutOfFrame|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E214V|TTLL3_ENST00000547186.1_Missense_Mutation_p.E120V|TTLL3_ENST00000426895.4_Missense_Mutation_p.E263V Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TGGTTTGATGAGGTTGATGCC 0.557000 20 127 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48593483 48593483 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:48593483T>G ENST00000342988.3 + 10 1772 c.1234T>G c.(1234-1236)Tac>Gac p.Y412D SMAD4_ENST00000588745.1_Missense_Mutation_p.Y316D|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y412D NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 412 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTACAGAGTTACTACTTAGA 0.428000 20 49 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4881809 4881809 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:4881809G>A ENST00000361571.5 - 9 2163 c.1752C>T c.(1750-1752)tgC>tgT p.C584C CAMTA2_ENST00000348066.3_Silent_p.C585C|CAMTA2_ENST00000358183.4_Silent_p.C585C|CAMTA2_ENST00000414043.3_Silent_p.C608C|CAMTA2_ENST00000381311.5_Silent_p.C587C|CAMTA2_ENST00000572543.1_Silent_p.C590C NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 585 IPT/TIG. cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CGGGACAGTAGCAGCGTAAGA 0.562000 5 16 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37969138 37969138 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:37969138G>A ENST00000327441.7 + 13 1523 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K MIPOL1_ENST00000556451.1_Missense_Mutation_p.E322K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.E353K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E353K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E322K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.E172K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E322K NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 353 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATCTCAAGAAGAAAATCTGAA 0.274000 9 34 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578502 7578502 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:7578502A>G ENST00000420246.2 - 5 560 c.428T>C c.(427-429)gTg>gCg p.V143A TP53_ENST00000269305.4_Missense_Mutation_p.V143A|TP53_ENST00000359597.4_Missense_Mutation_p.V143A|TP53_ENST00000455263.2_Missense_Mutation_p.V143A|TP53_ENST00000413465.2_Missense_Mutation_p.V143A|TP53_ENST00000445888.2_Missense_Mutation_p.V143A NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 143 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACAGCTGCACAGGGCAGGT 0.587000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 18 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202151181 202151181 + Splice_Site SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:202151181G>C ENST00000358485.4 + 9 1677 c.e9-1 CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000432109.2_Splice_Site NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.?(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 ATGTATTTCAGAGGCGATGAT 0.428000 HNSCC(4;0.00038) 9 23 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654326 61654326 + Silent SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:61654326T>G ENST00000397985.2 + 7 1195 c.939T>G c.(937-939)gtT>gtG p.V313V SERPINB8_ENST00000353706.2_Silent_p.V313V|SERPINB8_ENST00000542677.1_Silent_p.V131V|SERPINB8_ENST00000493661.1_Intron NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 313 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TGTCCAAGGTTGCCCACAAGT 0.517000 4 28 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239056 126239056 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:126239056T>C ENST00000394329.3 + 1 1503 c.1490T>C c.(1489-1491)aTa>aCa p.I497T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 497 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTGAGTGGGATATCTGCCACT 0.498000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254992 3254992 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:3254992T>C ENST00000304646.2 + 1 746 c.746T>C c.(745-747)cTc>cCc p.L249P AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 GCTGTGGTTCTCCTCTTCTAC 0.488000 37 57 0 0 1 0 0 DGKQ 1609 broad.mit.edu 37 4 954954 954954 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:954954C>T ENST00000273814.3 - 22 2683 c.2610G>A c.(2608-2610)cgG>cgA p.R870R NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 870 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCTGGGCAATCCGGATTCCGG 0.711000 16 9 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158597508 158597508 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:158597508C>A ENST00000368147.4 - 40 5751 c.5571G>T c.(5569-5571)ttG>ttT p.L1857F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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) GCTTCATTAGCAAGCTCTGCA 0.403000 6 41 0.00307968 0.00313985 1 1 0 TSPAN1 10103 broad.mit.edu 37 1 46650472 46650472 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:46650472A>G ENST00000372003.1 + 6 819 c.355A>G c.(355-357)Acg>Gcg p.T119A TSPAN1_ENST00000498443.1_3'UTR NM_005727.3 NP_005718.2 O60635 TSN1_HUMAN tetraspanin 1 119 integral to membrane|lysosomal membrane kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GCACTTCCTGACGTTGCTGGT 0.557000 9 66 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12340387 12340387 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:12340387G>C ENST00000269143.3 - 15 2024 c.1793C>G c.(1792-1794)cCa>cGa p.P598R NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 598 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TTTGCCACGTGGGATGATGGA 0.388000 7 71 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6181183 6181183 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:6181183G>C ENST00000262450.3 - 33 4993 c.4894C>G c.(4894-4896)Ccg>Gcg p.P1632A CHD5_ENST00000378021.1_Missense_Mutation_p.P489A NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1632 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGCTGCTCCGGGGAGGGCGGG 0.657000 3 9 0 0 1 0 0 TP53TG5 27296 broad.mit.edu 37 20 44005882 44005882 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:44005882C>A ENST00000372726.3 - 3 380 c.224G>T c.(223-225)aGt>aTt p.S75I TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.S59I NM_014477.2 NP_055292.1 Q9Y2B4 T53G5_HUMAN TP53 target 5 75 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 CTTTGGAACACTGAGCAGTGA 0.512000 35 140 2.42023e-17 2.68707e-17 1 1 0 HSPA13 6782 broad.mit.edu 37 21 15746066 15746066 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr21:15746066C>G ENST00000285667.3 - 5 1355 c.1288G>C c.(1288-1290)Gta>Cta p.V430L HSPA13_ENST00000544452.1_Missense_Mutation_p.V222L NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 430 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TCAGGGTCTACAGATGTGTTG 0.478000 29 47 0 0 1 0 0 C4orf32 132720 broad.mit.edu 37 4 113107967 113107967 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:113107967A>G ENST00000309733.5 + 2 456 c.272A>G c.(271-273)tAt>tGt p.Y91C NM_152400.2 NP_689613.1 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 integral to membrane Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) ACAAGGATGTATTTTGGAGAA 0.433000 30 151 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186957 153186957 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:153186957G>C ENST00000370028.3 - 3 353 c.296C>G c.(295-297)cCc>cGc p.P99R ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P99R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P76R|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P99R|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P99R NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 99 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGTGCAAGGGCGACAGGAG 0.726000 3 12 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43171267 43171267 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr21:43171267C>T ENST00000352483.2 - 3 677 c.613G>A c.(613-615)Gat>Aat p.D205N RIPK4_ENST00000544709.1_Missense_Mutation_p.D142N|RIPK4_ENST00000542057.1_Missense_Mutation_p.D142N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D205N Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 205 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGTATACATCGTGCTTGGTG 0.592000 6 18 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525162 61525162 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:61525162G>A ENST00000266070.4 - 12 3282 c.2957C>T c.(2956-2958)cCa>cTa p.P986L DIDO1_ENST00000395335.2_Missense_Mutation_p.P986L|DIDO1_ENST00000395340.1_Missense_Mutation_p.P986L|DIDO1_ENST00000395343.1_Missense_Mutation_p.P986L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 986 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGTGCTGTCTGGGCGGGATGC 0.617000 16 48 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575098 136575098 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:136575098T>C ENST00000264162.2 - 6 1530 c.1520A>G c.(1519-1521)cAt>cGt p.H507R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 507 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCATCCACCATGATCCTGCAG 0.582000 4 28 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73336102 73336102 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:73336102T>G ENST00000377767.4 - 17 2401 c.2301A>C c.(2299-2301)ttA>ttC p.L767F DIS3_ENST00000545453.1_Missense_Mutation_p.L605F|DIS3_ENST00000377780.4_Missense_Mutation_p.L737F NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 767 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TTGGAGACGCTAAGCCATAGT 0.328000 Multiple Myeloma(4;0.011) 14 44 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41276538 41276538 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:41276538C>G ENST00000361937.3 - 33 4358 c.3934G>C c.(3934-3936)Gat>Cat p.D1312H INO80_ENST00000401393.3_Missense_Mutation_p.D1312H Q9ULG1 INO80_HUMAN INO80 complex subunit 1312 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCCAATTCATCTTCTTTTTTC 0.448000 6 20 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110342883 110342883 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:110342883C>A ENST00000356688.4 - 4 548 c.233G>T c.(232-234)gGa>gTa p.G78V SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000397712.2_Missense_Mutation_p.G78V|SEPT10_ENST00000437928.1_Missense_Mutation_p.G63V|SEPT10_ENST00000397714.2_Missense_Mutation_p.G55V|SEPT10_ENST00000415095.1_Missense_Mutation_p.G78V Q9P0V9 SEP10_HUMAN septin 10 78 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TGTTGATTTTCCAATTCCAGT 0.338000 11 30 6.40141e-05 6.65654e-05 1 1 0 EPHX3 79852 broad.mit.edu 37 19 15338269 15338269 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:15338269G>A ENST00000221730.3 - 7 1282 c.1062C>T c.(1060-1062)ttC>ttT p.F354F EPHX3_ENST00000435261.1_Silent_p.F354F|EPHX3_ENST00000602233.1_Silent_p.F354F NM_024794.2 NP_079070.1 Q9H6B9 EPHX3_HUMAN epoxide hydrolase 3 354 extracellular region hydrolase activity p.F354L(1) endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 GGTCTTGCAAGAAGGCCCACA 0.592000 9 23 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13758996 13758996 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:13758996C>T ENST00000265104.4 - 61 10482 c.10378G>A c.(10378-10380)Gtg>Atg p.V3460M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3460 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCTGCACCACGTCAAGTTCC 0.547000 Kartagener syndrome 54 99 0 0 1 0 0 RPS19BP1 91582 broad.mit.edu 37 22 39928410 39928410 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:39928410C>T ENST00000334678.3 - 2 287 c.171G>A c.(169-171)aaG>aaA p.K57K NM_194326.2 NP_919307.1 Q86WX3 AROS_HUMAN ribosomal protein S19 binding protein 1 57 nucleolus|nucleoplasm endometrium(1)|kidney(1)|large_intestine(1) 3 Melanoma(58;0.04) CCAGTGCCGACTTGGGCACCT 0.642000 9 24 0 0 1 0 0 TCEA2 6919 broad.mit.edu 37 20 62700768 62700768 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:62700768T>G ENST00000395053.3 + 5 539 c.384T>G c.(382-384)ttT>ttG p.F128L TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.F101L|TCEA2_ENST00000343484.5_Missense_Mutation_p.F128L Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 128 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TCACCACATTTCCTCCGGTGC 0.677000 4 7 0 0 1 0 0 KIAA1467 57613 broad.mit.edu 37 12 13224193 13224193 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:13224193G>T ENST00000197268.8 + 10 1507 c.1387G>T c.(1387-1389)Gac>Tac p.D463Y NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 463 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGTGGATGGTGACTCTGGCTC 0.478000 31 51 1.836e-18 2.04237e-18 1 1 0 PUS7L 83448 broad.mit.edu 37 12 44148388 44148388 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:44148388A>G ENST00000416848.2 - 2 1149 c.661T>C c.(661-663)Tat>Cat p.Y221H PUS7L_ENST00000551923.1_Missense_Mutation_p.Y221H|PUS7L_ENST00000553166.1_Missense_Mutation_p.Y221H|PUS7L_ENST00000344862.5_Missense_Mutation_p.Y221H|PUS7L_ENST00000431332.3_Intron NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 221 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GCATCCAAATATTTAAAAAAG 0.303000 18 29 0 0 1 0 0 NKX6-3 157848 broad.mit.edu 37 8 41504095 41504095 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:41504095G>C ENST00000524115.2 - 2 284 c.281C>G c.(280-282)tCg>tGg p.S94W NM_152568.2 NP_689781.1 A6NJ46 NKX63_HUMAN NK6 homeobox 3 224 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCGTTCTCCGAGGGTGCGCG 0.721000 5 4 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110391069 110391069 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:110391069T>A ENST00000372007.5 + 7 772 c.381T>A c.(379-381)gaT>gaA p.D127E PAK3_ENST00000417227.1_Missense_Mutation_p.D148E|PAK3_ENST00000425146.1_Missense_Mutation_p.D127E|PAK3_ENST00000518291.1_Missense_Mutation_p.D163E|PAK3_ENST00000519681.1_Missense_Mutation_p.D148E|PAK3_ENST00000360648.4_Missense_Mutation_p.D163E|PAK3_ENST00000372010.1_Missense_Mutation_p.D142E|PAK3_ENST00000446737.1_Missense_Mutation_p.D127E|PAK3_ENST00000262836.4_Missense_Mutation_p.D142E NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Autoregulatory region (By similarity).|Linker. QKKN -> PEEE (in Ref. 2). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AATTCTATGATTCCAAAGAAA 0.373000 TSP Lung(19;0.15) 25 43 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166408670 166408670 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:166408670G>C ENST00000402744.4 + 6 1334 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 352 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCACCTGAAGAGACTCTGAA 0.453000 31 54 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31153274 31153274 + Missense_Mutation SNP G G C rs141721966 byFrequency TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:31153274G>C ENST00000268281.4 - 11 1587 c.1529C>G c.(1528-1530)tCg>tGg p.S510W PRSS36_ENST00000569305.1_Missense_Mutation_p.S505W|PRSS36_ENST00000418068.2_Missense_Mutation_p.S510W NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 510 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GCTCCAACGCGAGTCATTCTG 0.542000 22 28 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371529 139371529 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:139371529G>C ENST00000313050.7 - 1 612 c.539C>G c.(538-540)cCt>cGt p.P180R SEC16A_ENST00000371706.3_Missense_Mutation_p.P2R|SEC16A_ENST00000290037.6_Missense_Mutation_p.P2R|SEC16A_ENST00000431893.2_Missense_Mutation_p.P2R NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GTCGAGCCCAGGCATGTTCCC 0.582000 7 73 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150671929 150671929 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:150671929C>T ENST00000262186.5 - 2 578 c.177G>A c.(175-177)gtG>gtA p.V59V KCNH2_ENST00000430723.3_Silent_p.V59V NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 59 PAS. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTCGCTGCATCACCTCGGCCC 0.692000 5 19 0 0 1 0 0 TRAV21 28662 broad.mit.edu 37 14 22521259 22521259 + RNA SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:22521259T>G ENST00000390449.3 + 0 287 ACGTAGTACTTTATACATTGC 0.468000 7 17 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56716356 56716356 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:56716356T>C ENST00000370754.5 - 4 463 c.464A>G c.(463-465)gAt>gGt p.D155G RP11-472M19.2_ENST00000426453.1_RNA Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCGGAAAAATCCGCAGAGGA 0.473000 OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 24 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85711789 85711789 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:85711789G>A ENST00000526033.1 - 11 1367 c.1051C>T c.(1051-1053)Cat>Tat p.H351Y PICALM_ENST00000528398.1_Missense_Mutation_p.H300Y|PICALM_ENST00000356360.5_Missense_Mutation_p.H351Y|PICALM_ENST00000393346.3_Missense_Mutation_p.H351Y|PICALM_ENST00000532317.1_Missense_Mutation_p.H351Y NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 351 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) AAAGAGGTATGAGGTTTCTTT 0.423000 T """MLLT10, MLL""" """TALL, AML, """ 22 64 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878395 165878395 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:165878395T>C ENST00000513876.2 + 1 296 c.221T>C c.(220-222)cTc>cCc p.L74P TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 74 CAGCGGTCGCTCCACCAATCC 0.587000 5 12 0 0 1 0 0 RAB25 57111 broad.mit.edu 37 1 156038131 156038131 + Nonsense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:156038131G>T ENST00000361084.5 + 3 551 c.310G>T c.(310-312)Gag>Tag p.E104* RAB25_ENST00000487325.1_3'UTR NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 104 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) TGCTGTGGTGGAGCGATGGCT 0.572000 13 56 2.68362e-12 2.93409e-12 1 1 0 CASC5 57082 broad.mit.edu 37 15 40912936 40912936 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:40912936T>C ENST00000346991.5 + 11 942 c.552T>C c.(550-552)acT>acC p.T184T CASC5_ENST00000399668.2_Silent_p.T158T|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 184 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CAAGTCACACTGTAATGATTA 0.373000 7 35 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50005918 50005918 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:50005918C>T ENST00000443081.1 + 3 1583 c.664C>T c.(664-666)Cca>Tca p.P222S RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.P354S P78332 RBM6_HUMAN RNA binding motif protein 6 354 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGAGTCTCCAGCAGACTT 0.438000 8 46 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94841845 94841845 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:94841845C>T ENST00000337841.4 - 6 443 c.431G>A c.(430-432)tGa>tAa p.*144* SPTLC1_ENST00000262554.2_Intron|SPTLC1_ENST00000482632.1_5'UTR NM_178324.1 NP_847894.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 0 V -> D (in HSAN1A). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCTTCATCTTCATTCTAGAAA 0.428000 8 60 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44278753 44278753 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:44278753G>A ENST00000244571.4 - 4 729 c.727C>T c.(727-729)Ctg>Ttg p.L243L RP11-444E17.6_ENST00000505802.1_Intron NM_020745.3 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 243 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ATGAAGACCAGGTTCCAAAGC 0.532000 16 57 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41765801 41765801 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:41765801G>A ENST00000301178.4 + 20 2867 c.2677G>A c.(2677-2679)Ggt>Agt p.G893S AXL_ENST00000359092.3_Missense_Mutation_p.G884S|AXL_ENST00000593513.1_Missense_Mutation_p.G625S NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase 893 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GCAGGAGGATGGTGCCTGAGA 0.627000 3 20 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129034 248129034 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:248129034C>G ENST00000366480.3 + 1 500 c.401C>G c.(400-402)tCt>tGt p.S134C OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGTTTTATGTCTTATGATCGC 0.448000 48 101 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170518892 170518892 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:170518892A>G ENST00000447353.1 - 5 822 c.717T>C c.(715-717)gaT>gaC p.D239D NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 TTTCCTCAGCATCTTTTTCTT 0.308000 19 40 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298265 75298265 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:75298265C>T ENST00000304771.3 - 4 3031 c.2281G>A c.(2281-2283)Gat>Aat p.D761N MAP6_ENST00000526740.1_Missense_Mutation_p.D432N|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 761 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) ACCAGAGGATCTTGATCCTTC 0.532000 13 77 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72897351 72897351 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:72897351T>C ENST00000361138.5 + 7 891 c.833T>C c.(832-834)gTt>gCt p.V278A NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 278 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 TATGAAAATGTTCGTCAGGAA 0.348000 10 25 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062822 194062822 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:194062822C>A ENST00000323830.3 - 2 699 c.610G>T c.(610-612)Gcg>Tcg p.A204S CPN2_ENST00000429275.1_Missense_Mutation_p.A204S NM_001080513.2 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 204 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CCAGAGAGCGCGTTGTTGCTC 0.612000 5 27 0.184627 0.18495 1 1 0 TRAPPC8 22878 broad.mit.edu 37 18 29522680 29522680 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:29522680G>A ENST00000283351.4 - 1 383 c.48C>T c.(46-48)ttC>ttT p.F16F TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Silent_p.F16F|TRAPPC8_ENST00000582539.1_Intron|RP11-326K13.4_ENST00000580420.1_RNA NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 16 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CACAGGGGACGAAGGAGTCCG 0.662000 3 3 0 0 1 0 0 COA4 51287 broad.mit.edu 37 11 73584433 73584433 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:73584433G>A ENST00000541455.1 - 2 411 c.18C>T c.(16-18)ccC>ccT p.P6P COA4_ENST00000355693.4_5'UTR|COA4_ENST00000537289.1_5'UTR|COA4_ENST00000545127.1_5'UTR cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae) TCCTGGGGATGGGGAGTCTAT 0.478000 3 26 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206711530 206711530 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:206711530C>T ENST00000355294.4 + 2 544 c.487C>T c.(487-489)Cgc>Tgc p.R163C RASSF5_ENST00000367117.3_Missense_Mutation_p.R163C NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 163 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CCCAGAATGCCGCAGCCTGAT 0.532000 10 56 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038092 75038092 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:75038092T>A ENST00000326665.5 - 14 3520 c.3302A>T c.(3301-3303)gAa>gTa p.E1101V C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1101 Glu-rich. E -> G (in Ref. 4; BAC86994). NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCCCCTTCTTCCGCTTTAAG 0.453000 14 71 0 0 1 0 0 ABHD3 171586 broad.mit.edu 37 18 19231604 19231604 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:19231604A>G ENST00000578270.1 - 8 1533 c.593T>C c.(592-594)gTc>gCc p.V198A ABHD3_ENST00000580981.1_Missense_Mutation_p.V340A|ABHD3_ENST00000289119.2_Missense_Mutation_p.V393A Q8WU67 ABHD3_HUMAN abhydrolase domain containing 3 393 integral to membrane carboxylesterase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2) 10 TTGCTTGAAGACACGATCCAT 0.428000 7 81 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12294605 12294605 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:12294605A>T ENST00000379375.5 + 4 768 c.501A>T c.(499-501)agA>agT p.R167S NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 167 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) GAAAAATCAGAAGAAGTTCAG 0.393000 14 22 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105518334 105518334 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:105518334A>G ENST00000329797.3 - 4 1051 c.140T>C c.(139-141)gTg>gCg p.V47A GPR132_ENST00000392585.2_Missense_Mutation_p.V38A|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.V47A NM_001278694.1|NM_001278696.1|NM_013345.2 NP_001265623.1|NP_001265625.1|NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 47 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GCTGTACACCACGACCAGGAC 0.667000 15 28 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034649 96034649 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:96034649G>A ENST00000358812.4 + 2 468 c.334G>A c.(334-336)Gga>Aga p.G112R MANEA_ENST00000369293.1_Missense_Mutation_p.G112R NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 112 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CAGTTGGTATGGAAATCCACA 0.363000 16 30 0 0 1 0 0 NFIL3 4783 broad.mit.edu 37 9 94171869 94171869 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:94171869A>T ENST00000297689.3 - 2 1542 c.1148T>A c.(1147-1149)gTg>gAg p.V383E NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 383 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 AGTCACTTGCACTGAGAAAGG 0.393000 69 92 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74487115 74487115 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:74487115T>C ENST00000422840.2 - 26 3489 c.3490A>G c.(3490-3492)Atg>Gtg p.M1164V GLG1_ENST00000447066.2_Missense_Mutation_p.M1153V|GLG1_ENST00000205061.5_Missense_Mutation_p.M1164V NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1164 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CGTCCACACATCAGGCCAATC 0.483000 33 85 0 0 1 0 0 HMGCL 3155 broad.mit.edu 37 1 24134631 24134631 + Silent SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:24134631G>T ENST00000374483.4 - 8 1340 c.669C>A c.(667-669)gcC>gcA p.A223A HMGCL_ENST00000374490.3_Silent_p.A248A|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Silent_p.A177A P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase 248 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TTACCTGCAGGGCCATCAAGG 0.507000 8 39 0.000157383 0.000162187 1 1 0 KRT32 3882 broad.mit.edu 37 17 39622399 39622399 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:39622399C>T ENST00000225899.3 - 2 601 c.498G>A c.(496-498)agG>agA p.R166R NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 166 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) TCACAACCATCCTGGCATTCT 0.517000 10 36 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44912496 44912496 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:44912496T>C ENST00000261866.7 - 15 2742 c.2726A>G c.(2725-2727)tAt>tGt p.Y909C SPG11_ENST00000427534.2_Missense_Mutation_p.Y909C|SPG11_ENST00000558319.1_Missense_Mutation_p.Y909C|SPG11_ENST00000535302.2_Missense_Mutation_p.Y909C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 909 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AAGTGAAGCATAACTATGCTG 0.388000 9 53 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36122816 36122816 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:36122816A>G ENST00000303965.4 - 23 4368 c.3879T>C c.(3877-3879)taT>taC p.Y1293Y NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1293 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ATATTTCTACATAATTATTAA 0.318000 17 36 0 0 1 0 0 NT5C2 22978 broad.mit.edu 37 10 104853781 104853781 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:104853781C>T ENST00000343289.5 - 13 1023 c.936G>A c.(934-936)ctG>ctA p.L312L NT5C2_ENST00000404739.3_Silent_p.L312L|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Silent_p.L283L NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 312 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) TACCAATTTTCAGCTTGCCAG 0.458000 14 74 0 0 1 0 0 GNB4 59345 broad.mit.edu 37 3 179143996 179143996 + Translation_Start_Site SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:179143996A>T ENST00000232564.3 - 0 279 GNB4_ENST00000468623.1_De_novo_Start_OutOfFrame NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CATTTTTTCAATTTGTTTACC 0.353000 11 25 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10504057 10504057 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:10504057C>A ENST00000222005.2 - 6 840 c.787G>T c.(787-789)Gtg>Ttg p.V263L NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 263 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CGGCCCCGCACACGCTCCTTG 0.657000 7 41 0.0381472 0.0384149 1 1 0 RPH3A 22895 broad.mit.edu 37 12 113328772 113328772 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:113328772T>A ENST00000389385.4 + 19 2236 c.1739T>A c.(1738-1740)aTg>aAg p.M580K RPH3A_ENST00000420983.2_Missense_Mutation_p.M580K|RPH3A_ENST00000415485.3_Missense_Mutation_p.M580K|RPH3A_ENST00000551052.1_Missense_Mutation_p.M576K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.M580K|RPH3A_ENST00000548866.1_Missense_Mutation_p.M531K|RPH3A_ENST00000447659.2_Missense_Mutation_p.M531K NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 580 C2 2. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CTGGCTGCCATGGACGCTAAT 0.572000 3 10 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237917 29237917 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:29237917C>G ENST00000382535.3 + 2 1801 c.1432C>G c.(1432-1434)Caa>Gaa p.Q478E FOXG1_ENST00000313071.4_Missense_Mutation_p.Q478E P55316 FOXG1_HUMAN forkhead box G1 478 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TTTCACACATCAAAATCAGGG 0.458000 22 52 0 0 1 0 0 ATG4A 115201 broad.mit.edu 37 X 107381402 107381402 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:107381402T>C ENST00000372232.3 + 9 954 c.795T>C c.(793-795)taT>taC p.Y265Y ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Silent_p.Y241Y|ATG4A_ENST00000345734.3_Intron NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 265 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 ATAACGCGTATTATTTCATAG 0.458000 27 76 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50750629 50750629 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:50750629T>A ENST00000413817.3 - 20 1768 c.1697A>T c.(1696-1698)tAc>tTc p.Y566F NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B CGTCTCGATGTACAGCTGTGC 0.662000 8 9 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1222104 1222104 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:1222104T>C ENST00000382952.3 - 4 574 c.190A>G c.(190-192)Atg>Gtg p.M64V CTBP1_ENST00000290921.6_Missense_Mutation_p.M75V NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 75 Interaction with GLIS2 1 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GTGTGGTACATCAGGGCCCCC 0.597000 30 54 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50847395 50847395 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:50847395C>T ENST00000398473.2 + 9 1069 c.957C>T c.(955-957)gtC>gtT p.V319V LARP4_ENST00000518444.1_Silent_p.V318V|LARP4_ENST00000518561.1_Silent_p.V249V|LARP4_ENST00000522085.1_Silent_p.V319V|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000293618.8_Silent_p.V319V|LARP4_ENST00000429001.3_Silent_p.V325V NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 319 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 AGTACTCGGTCTATAGTATTG 0.383000 29 35 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153640430 153640430 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:153640430G>T ENST00000299328.5 + 2 406 c.117G>T c.(115-117)atG>atT p.M39I TAZ_ENST00000369790.4_Missense_Mutation_p.M39I|TAZ_ENST00000475699.1_Missense_Mutation_p.M39I|TAZ_ENST00000351413.4_Missense_Mutation_p.M39I|TAZ_ENST00000350743.4_Missense_Mutation_p.M39I|TAZ_ENST00000369776.4_Intron NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 39 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGAGTACATGAACCACCTGA 0.677000 OREG0003602 type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 10 5.18039e-06 5.45605e-06 1 1 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 4 8 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33846755 33846755 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:33846755A>G ENST00000261326.5 + 14 2474 c.2453A>G c.(2452-2454)cAg>cGg p.Q818R MOCOS_ENST00000588132.1_3'UTR NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 818 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) TGCATCGACCAGCAAACTGGG 0.473000 9 17 0 0 1 0 0 FAM221A 340277 broad.mit.edu 37 7 23731032 23731032 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:23731032A>G ENST00000344962.4 + 4 543 c.454A>G c.(454-456)Agc>Ggc p.S152G FAM221A_ENST00000409994.3_Missense_Mutation_p.S94G|FAM221A_ENST00000409653.1_Missense_Mutation_p.S94G|FAM221A_ENST00000409192.3_Missense_Mutation_p.S152G NM_199136.3 NP_954587.2 A4D161 CG046_HUMAN family with sequence similarity 221, member A 152 AGGATTCCATAGCTGCTTCAC 0.433000 30 63 0 0 1 0 0 GPS1 2873 broad.mit.edu 37 17 80010254 80010254 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:80010254T>C ENST00000392358.2 + 1 421 c.72T>C c.(70-72)agT>agC p.S24S GPS1_ENST00000355130.2_Silent_p.S24S|GPS1_ENST00000320548.4_5'UTR|GPS1_ENST00000306823.6_Intron|GPS1_ENST00000578552.1_Intron NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 0 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CTCACAGCAGTAGGTCAGACC 0.642000 4 10 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 59844509 59844509 + Splice_Site SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:59844509G>T ENST00000371218.4 + 5 738 c.554G>T c.(553-555)cGg>cTg p.R185L FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Splice_Site_p.R185L|FGGY_ENST00000371212.1_Splice_Site_p.R97L NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 185 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor p.R185Q(1)|p.R73Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GTCACAGCACGGTATGTTAAT 0.408000 13 37 6.31663e-08 6.7268e-08 1 1 0 CORIN 10699 broad.mit.edu 37 4 47765546 47765546 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:47765546A>T ENST00000273857.4 - 4 466 c.467T>A c.(466-468)cTg>cAg p.L156Q CORIN_ENST00000502252.1_Missense_Mutation_p.L89Q|CORIN_ENST00000504584.1_Missense_Mutation_p.L156Q|CORIN_ENST00000508498.1_Missense_Mutation_p.L17Q|CORIN_ENST00000505909.1_Missense_Mutation_p.L156Q NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 156 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GAGAGGTGTCAGCGTGGCGTG 0.468000 11 43 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14724925 14724925 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:14724925G>A ENST00000403951.2 - 10 1193 c.774C>T c.(772-774)tgC>tgT p.C258C DGKB_ENST00000258767.5_Silent_p.C258C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.C258C|DGKB_ENST00000406247.3_Silent_p.C258C|DGKB_ENST00000407950.1_Silent_p.C251C|DGKB_ENST00000444700.2_Silent_p.C251C|DGKB_ENST00000399322.3_Silent_p.C258C Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 258 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding p.C258C(1)|p.C258*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GGCAAAGGTTGCAATAGGCAG 0.493000 26 31 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154306994 154306994 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:154306994T>A ENST00000368489.3 + 11 863 c.863T>A c.(862-864)cTg>cAg p.L288Q ATP8B2_ENST00000368487.3_Missense_Mutation_p.L255Q|ATP8B2_ENST00000341822.2_Missense_Mutation_p.L274Q|ATP8B2_ENST00000426445.1_3'UTR NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 274 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GACACTAAGCTGATGCAAAAC 0.542000 5 34 0 0 1 0 0 KXD1 79036 broad.mit.edu 37 19 18679354 18679354 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:18679354C>T ENST00000602094.1 + 5 1904 c.444C>T c.(442-444)ggC>ggT p.G148G KXD1_ENST00000539106.1_Silent_p.G148G|KXD1_ENST00000595073.1_Silent_p.G148G|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Silent_p.G148G|KXD1_ENST00000222307.4_Silent_p.G148G|KXD1_ENST00000601630.1_Silent_p.G167G|KXD1_ENST00000599319.1_Silent_p.G148G Q9BQD3 CS050_HUMAN KxDL motif containing 1 148 protein binding TGAGCCCCGGCTTCGAGGACC 0.662000 27 50 0 0 1 0 0 NAPG 8774 broad.mit.edu 37 18 10548990 10548990 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:10548990A>T ENST00000322897.6 + 11 761 c.692A>T c.(691-693)gAc>gTc p.D231V NAPG_ENST00000542979.1_Missense_Mutation_p.D149V NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 231 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 GGCAGTGAAGACTGTGCTGCC 0.483000 22 59 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49765535 49765535 + Splice_Site SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:49765535C>T ENST00000321599.4 - 5 1094 c.e5+1 IP6K1_ENST00000395238.1_Splice_Site|IP6K1_ENST00000468463.1_Splice_Site|IP6K1_ENST00000460540.1_Splice_Site NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 AGGTAACTCACCTGCATGCCG 0.602000 8 74 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46620610 46620610 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:46620610A>C ENST00000296145.5 + 2 794 c.61A>C c.(61-63)Aaa>Caa p.K21Q LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.K5Q NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 21 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GGCCATTTCTAAAGTCTTTGA 0.388000 28 55 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111154926 111154926 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:111154926G>C ENST00000280325.4 + 3 280 c.133G>C c.(133-135)Gag>Cag p.E45Q NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 45 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GTTTCCCTGTGAGTCCTCCGC 0.592000 17 104 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505468 32505468 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:32505468A>G ENST00000520502.2 + 1 232 c.232A>G c.(232-234)Att>Gtt p.I78V NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GAAAATCTGCATTGTCCCCAT 0.567000 14 44 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32832544 32832544 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:32832544T>G ENST00000421745.2 + 72 14227 c.14093T>G c.(14092-14094)cTt>cGt p.L4698R NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4698 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTCCAGTCCCTTATATTAGTA 0.408000 28 103 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089793 50089793 + Missense_Mutation SNP G G A rs147272111 byFrequency TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:50089793G>A ENST00000376042.1 + 10 4095 c.3797G>A c.(3796-3798)cGc>cAc p.R1266H CCNB3_ENST00000276014.7_Missense_Mutation_p.R1266H|CCNB3_ENST00000348603.2_Missense_Mutation_p.R162H|CCNB3_ENST00000376038.1_Missense_Mutation_p.R162H Q8WWL7 CCNB3_HUMAN cyclin B3 1266 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CATTTTCTGCGCAGATATGCT 0.443000 6 25 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55085829 55085829 + Silent SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:55085829T>A ENST00000251377.3 + 4 265 c.132T>A c.(130-132)ccT>ccA p.P44P LILRA2_ENST00000251376.3_Silent_p.P44P|LILRA2_ENST00000391738.3_Silent_p.P44P|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.P32P|LILRB1_ENST00000418536.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) AGGGAAGTCCTGTGACCCTCA 0.547000 32 46 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91462983 91462983 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:91462983T>C ENST00000360468.3 + 22 3437 c.3419T>C c.(3418-3420)aTg>aCg p.M1140T MAN2A2_ENST00000430376.2_Missense_Mutation_p.M330T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.M648T|MAN2A2_ENST00000559717.1_Missense_Mutation_p.M1140T NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1140 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TTGGAGCCCATGGAGATTGCT 0.512000 16 33 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39722425 39722425 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:39722425A>G ENST00000280082.3 + 6 2136 c.1937A>G c.(1936-1938)aAt>aGt p.N646S RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 0 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATTTTGCTAAATATAAGAGTG 0.289000 15 49 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49090670 49090670 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:49090670G>A ENST00000323090.4 + 2 729 c.354G>A c.(352-354)aaG>aaA p.K118K SULT2B1_ENST00000201586.2_Silent_p.K133K NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 133 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) TCTTCACCAAGGCCTTCTTCA 0.607000 6 36 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183387050 183387050 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:183387050A>G ENST00000435564.1 - 1 254 c.54T>C c.(52-54)taT>taC p.Y18Y PDE1A_ENST00000358139.2_Silent_p.Y18Y|PDE1A_ENST00000410103.1_Silent_p.Y18Y|PDE1A_ENST00000456212.1_Silent_p.Y18Y|PDE1A_ENST00000331935.6_Silent_p.Y18Y|PDE1A_ENST00000536095.1_5'UTR NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 18 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CTCCTGTAAGATACTTAAAAG 0.403000 18 53 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26830576 26830576 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:26830576T>C ENST00000376236.4 + 11 1565 c.1110T>C c.(1108-1110)caT>caC p.H370H NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 370 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 GGACTCAGCATAAAATGAAAT 0.303000 15 37 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494780 55494780 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:55494780A>T ENST00000543010.1 + 6 1857 c.1714A>T c.(1714-1716)Act>Tct p.T572S NLRP2_ENST00000448584.2_Missense_Mutation_p.T572S|NLRP2_ENST00000537859.1_Missense_Mutation_p.T550S|NLRP2_ENST00000339757.7_Missense_Mutation_p.T550S|NLRP2_ENST00000427260.2_Missense_Mutation_p.T549S|NLRP2_ENST00000263437.6_Missense_Mutation_p.T569S|NLRP2_ENST00000538819.1_Missense_Mutation_p.T548S|NLRP2_ENST00000391721.4_Missense_Mutation_p.T548S NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 572 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTTGGAGGCCACTTTTGGCTG 0.537000 28 22 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833630 101833630 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:101833630G>C ENST00000263468.8 + 6 2134 c.1864G>C c.(1864-1866)Gaa>Caa p.E622Q KIAA1377_ENST00000537689.1_Missense_Mutation_p.E423Q NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 622 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAAGGTGCAGAAATTCCAAA 0.313000 12 25 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23891567 23891567 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:23891567A>T ENST00000264867.2 - 1 133 c.14T>A c.(13-15)aTg>aAg p.M5K PPARGC1A_ENST00000507380.1_Missense_Mutation_p.M5K NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 5 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CTGGTTGCACATGTCCCACGC 0.557000 15 49 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102250648 102250648 + Splice_Site SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:102250648G>A ENST00000376180.3 + 7 1233 c.1014G>A c.(1012-1014)agG>agA p.R338R ITGBL1_ENST00000376162.3_Splice_Site_p.R245R|ITGBL1_ENST00000545560.2_Splice_Site_p.R197R NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 338 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTCTGGGAGGGGTAAGTGAG 0.498000 4 9 0 0 1 0 0 C20orf27 54976 broad.mit.edu 37 20 3734740 3734740 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:3734740C>G ENST00000379772.3 - 6 1300 c.490G>C c.(490-492)Gac>Cac p.D164H C20orf27_ENST00000217195.8_Missense_Mutation_p.D189H NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 164 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 TGCTCTGAGTCGTATTCCAGC 0.667000 3 10 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48456576 48456576 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:48456576C>T ENST00000393271.2 + 6 1342 c.1260C>T c.(1258-1260)gaC>gaT p.D420D EME1_ENST00000338165.4_Silent_p.D407D|EME1_ENST00000511648.2_Silent_p.D420D NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 407 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) CCAGGGTAGACGCTGAAGAGG 0.502000 Direct reversal of damage;Homologous recombination 30 24 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25393963 25393963 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:25393963G>C ENST00000315368.3 + 10 851 c.709G>C c.(709-711)Gaa>Caa p.E237Q ANAPC4_ENST00000510092.1_Missense_Mutation_p.E237Q NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 237 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTTACAGCTTGAAACTAATCT 0.363000 20 57 0 0 1 0 0 INPP5A 3632 broad.mit.edu 37 10 134540329 134540329 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:134540329A>G ENST00000368594.3 + 9 929 c.652A>G c.(652-654)Att>Gtt p.I218V INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.I218V NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 218 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TTCCAGAATCATTGATCAGCG 0.567000 6 62 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3344706 3344706 + Nonsense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:3344706C>T ENST00000336727.3 + 3 2828 c.1924C>T c.(1924-1926)Caa>Taa p.Q642* RGS12_ENST00000306648.7_Nonsense_Mutation_p.Q40*|RGS12_ENST00000344733.5_Nonsense_Mutation_p.Q642*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.Q642*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.Q642* NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 642 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCAGCCTTCTCAACGCACGTC 0.418000 54 90 0 0 1 0 0 SLC38A7 55238 broad.mit.edu 37 16 58705052 58705052 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:58705052G>A ENST00000570101.1 - 9 2011 c.1128C>T c.(1126-1128)gtC>gtT p.V376V SLC38A7_ENST00000564010.1_Silent_p.V287V|SLC38A7_ENST00000219320.4_Silent_p.V376V|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 376 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GCAGGAACCAGACCAGCGTCT 0.667000 5 8 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185984480 185984480 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:185984480G>A ENST00000271588.4 + 31 5049 c.4820G>A c.(4819-4821)cGa>cAa p.R1607Q HMCN1_ENST00000367492.2_Missense_Mutation_p.R1607Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1607 Ig-like C2-type 13. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CATATTCCTCGAGCACAGGTC 0.428000 17 32 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060579 111060579 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:111060579G>A ENST00000369771.2 - 1 1218 c.831C>T c.(829-831)acC>acT p.T277T NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 277 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) ACACGATGCAGGTAGACTCCA 0.512000 25 39 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84494279 84494279 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:84494279G>A ENST00000416219.2 + 25 2529 c.2440G>A c.(2440-2442)Gac>Aac p.D814N ATP2C2_ENST00000262429.4_Missense_Mutation_p.D785N|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 785 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AGAGCCCGTTGACAAAGACGC 0.547000 12 117 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83362286 83362286 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:83362286C>G ENST00000296591.5 - 7 1209 c.791G>C c.(790-792)gGc>gCc p.G264A EDIL3_ENST00000380138.3_Missense_Mutation_p.G254A|EDIL3_ENST00000510271.1_5'UTR NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 264 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTCATTGGTGCCTTTCACTTT 0.343000 18 41 0 0 1 0 0 PIK3R3 8503 broad.mit.edu 37 1 46511644 46511644 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:46511644C>G ENST00000262741.5 - 9 1822 c.1133G>C c.(1132-1134)gGt>gCt p.G378A PIK3R3_ENST00000420542.1_Missense_Mutation_p.G378A|PIK3R3_ENST00000540385.1_Missense_Mutation_p.G424A|PIK3R3_ENST00000372006.1_Missense_Mutation_p.G378A|PIK3R3_ENST00000423209.1_Missense_Mutation_p.G319A|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.G319A|PIK3R3_ENST00000340332.6_Missense_Mutation_p.G283A NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 378 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) TAAGAATGCACCATCAGGTTT 0.413000 34 63 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132262637 132262637 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:132262637C>T ENST00000261674.4 + 14 2311 c.2170C>T c.(2170-2172)Ctg>Ttg p.L724L SFSWAP_ENST00000541286.1_Silent_p.L724L NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 724 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CTGCCCTCTACTGACTGGAGG 0.423000 24 24 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294671 124294671 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:124294671C>A ENST00000356130.3 - 1 118 c.97G>T c.(97-99)Ggg>Tgg p.G33W NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ACATAGATCCCTAAGAATAGA 0.453000 18 30 3.99206e-14 4.39816e-14 1 1 0 TIAM2 26230 broad.mit.edu 37 6 155451320 155451320 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:155451320A>G ENST00000461783.3 + 6 2236 c.963A>G c.(961-963)gaA>gaG p.E321E TIAM2_ENST00000318981.5_Silent_p.E321E|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.E321E|TIAM2_ENST00000529824.2_Silent_p.E321E|TIAM2_ENST00000456144.1_Silent_p.E321E Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 321 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TTTCTGATGAATACATGGGCA 0.562000 13 16 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55956123 55956123 + Splice_Site SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:55956123A>G ENST00000263923.4 - 23 3487 c.3192T>C c.(3190-3192)gaT>gaC p.D1064D RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1064 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGAAACTTACATCTCCTTTTC 0.393000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 24 50 0 0 1 0 0 BTF3L4 91408 broad.mit.edu 37 1 52530525 52530525 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:52530525T>C ENST00000313334.8 + 3 351 c.83T>C c.(82-84)gTa>gCa p.V28A BTF3L4_ENST00000484036.1_Missense_Mutation_p.V28A|BTF3L4_ENST00000489308.2_Missense_Mutation_p.V28A|BTF3L4_ENST00000472944.2_5'UTR|BTF3L4_ENST00000533836.1_3'UTR NM_152265.4 NP_689478.1 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 28 endometrium(2)|kidney(1)|large_intestine(2) 5 AAGAAGGTGGTACATAGAACA 0.418000 9 41 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783683 47783683 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr21:47783683A>G ENST00000359568.5 + 14 2550 c.2443A>G c.(2443-2445)Acg>Gcg p.T815A PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 815 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) GAGGTCCTTGACGGAGCAGCA 0.592000 7 56 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87399901 87399901 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:87399901G>A ENST00000338056.3 + 8 1096 c.685G>A c.(685-687)Gat>Aat p.D229N RUNDC3B_ENST00000493037.1_Missense_Mutation_p.D212N|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.D212N|RUNDC3B_ENST00000496000.1_3'UTR NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 229 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TCCCAGTTCTGATAGTATCAG 0.388000 3 13 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73235046 73235046 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:73235046G>T ENST00000377110.3 - 15 2282 c.2039C>A c.(2038-2040)gCc>gAc p.A680D TRPM3_ENST00000358082.3_Missense_Mutation_p.A542D|TRPM3_ENST00000396280.5_Missense_Mutation_p.A529D|TRPM3_ENST00000408909.2_Missense_Mutation_p.A539D|TRPM3_ENST00000423814.3_Missense_Mutation_p.A707D|TRPM3_ENST00000377105.1_Missense_Mutation_p.A539D|TRPM3_ENST00000377106.1_Missense_Mutation_p.A552D|TRPM3_ENST00000360823.2_Missense_Mutation_p.A542D|TRPM3_ENST00000396292.4_Missense_Mutation_p.A552D|TRPM3_ENST00000396285.1_Missense_Mutation_p.A527D|TRPM3_ENST00000357533.2_Missense_Mutation_p.A684D|TRPM3_ENST00000377111.2_Missense_Mutation_p.A680D Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GTTCTCAGAGGCCTCATGAGC 0.587000 4 30 0.00024832 0.00025544 1 1 0 PRR14 78994 broad.mit.edu 37 16 30664040 30664040 + Splice_Site SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:30664040A>T ENST00000542965.2 + 3 648 c.e3-1 PRR14_ENST00000300835.4_Splice_Site Q9BWN1 PRR14_HUMAN proline rich 14 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) TTTCTCTTCCAGGTCCCCGTG 0.587000 9 26 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5338649 5338649 + Nonsense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:5338649G>T ENST00000396872.3 + 8 1074 c.913G>T c.(913-915)Gag>Tag p.E305* SLC29A4_ENST00000406453.3_Nonsense_Mutation_p.E291*|SLC29A4_ENST00000297195.4_Nonsense_Mutation_p.E305* Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GGCCCCCAACGAGTCCCCAAA 0.692000 6 21 0.0215528 0.0217804 1 1 0 FOSL2 2355 broad.mit.edu 37 2 28616605 28616605 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:28616605C>T ENST00000264716.4 + 1 881 c.18C>T c.(16-18)ccC>ccT p.P6P AC104695.3_ENST00000427929.1_RNA|FOSL2_ENST00000460736.1_Intron|FOSL2_ENST00000379619.1_Intron|AC104695.3_ENST00000445878.1_RNA NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 6 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) AGGATTATCCCGGGAACTTTG 0.711000 4 5 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72288486 72288486 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:72288486T>C ENST00000550746.1 + 8 793 c.729T>C c.(727-729)taT>taC p.Y243Y TBC1D15_ENST00000319106.8_Silent_p.Y234Y|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.Y226Y NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 243 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGACCCTTATACGGCAACTA 0.353000 16 26 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109927862 109927862 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:109927862A>G ENST00000537063.1 + 8 920 c.683A>G c.(682-684)cAc>cGc p.H228R UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000280774.5_Intron Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CAACACCTGCACTTGGATTTT 0.473000 18 18 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85714467 85714467 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:85714467C>G ENST00000526033.1 - 9 1151 c.835G>C c.(835-837)Gaa>Caa p.E279Q PICALM_ENST00000528398.1_Missense_Mutation_p.E228Q|PICALM_ENST00000356360.5_Missense_Mutation_p.E279Q|PICALM_ENST00000393346.3_Missense_Mutation_p.E279Q|PICALM_ENST00000532317.1_Missense_Mutation_p.E279Q NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 279 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) AAATGTTGTTCCAAAGCATCA 0.358000 T """MLLT10, MLL""" """TALL, AML, """ 8 42 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70229858 70229858 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:70229858C>G ENST00000399180.2 - 2 394 c.395G>C c.(394-396)cGg>cCg p.R132P DNA2_ENST00000358410.3_Missense_Mutation_p.R46P|DNA2_ENST00000399179.2_Missense_Mutation_p.R46P P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 46 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 CACCAGGTACCGGTTATCCAT 0.413000 6 18 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9590195 9590195 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:9590195G>A ENST00000285199.7 + 8 1418 c.1322G>A c.(1321-1323)cGc>cAc p.R441H USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.R441H NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 AGCAAGGTCCGCCATCTTATG 0.552000 3 12 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54780385 54780385 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:54780385G>A ENST00000218436.6 - 10 3245 c.3216C>T c.(3214-3216)agC>agT p.S1072S NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1072 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AGGTGAAGATGCTAGGCAATG 0.527000 10 9 0 0 1 0 0 IGKV3-15 28913 broad.mit.edu 37 2 89384818 89384818 + RNA SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:89384818A>G ENST00000390252.2 - 0 296 ACCATAGATGAGGAGCCTGGG 0.592000 25 25 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136742914 136742914 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:136742914C>T ENST00000354570.3 - 2 501 c.91G>A c.(91-93)Gat>Aat p.D31N MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.D16N|MAP7_ENST00000438100.2_Missense_Mutation_p.D53N|MAP7_ENST00000454590.1_Missense_Mutation_p.D53N NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 31 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TTTTTCTTATCTTGCACTTTG 0.383000 14 29 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118499701 118499701 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:118499701G>C ENST00000349139.5 + 25 2511 c.2464G>C c.(2464-2466)Gaa>Caa p.E822Q SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TGAGCTGGAAGAATCTCTACT 0.338000 18 79 0 0 1 0 0 TMED6 146456 broad.mit.edu 37 16 69385535 69385535 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:69385535C>T ENST00000288025.3 - 1 177 c.122G>A c.(121-123)cGa>cAa p.R41Q RP11-343C2.7_ENST00000564737.1_Silent_p.S33S|RP11-343C2.9_ENST00000563634.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 41 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 AAAGTCATATCGATCAGCTCC 0.522000 33 87 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138687884 138687884 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:138687884A>G ENST00000520602.1 - 16 2010 c.1725T>C c.(1723-1725)taT>taC p.Y575Y MCF2_ENST00000519895.1_Silent_p.Y591Y|MCF2_ENST00000338585.6_Silent_p.Y531Y|MCF2_ENST00000370573.4_Silent_p.Y515Y|MCF2_ENST00000414978.1_Silent_p.Y575Y|MCF2_ENST00000370578.4_Silent_p.Y660Y|MCF2_ENST00000370576.4_Silent_p.Y515Y|MCF2_ENST00000536274.1_Silent_p.Y476Y P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 515 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) ACAAAACAGTATACAGTTCTC 0.353000 35 113 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7918760 7918760 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:7918760A>G ENST00000254854.4 + 15 3034 c.2884A>G c.(2884-2886)Act>Gct p.T962A NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 962 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TGCCGTGGGCACTTTCCGCAT 0.647000 7 13 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78390881 78390881 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:78390881G>A ENST00000238561.5 + 8 1039 c.940G>A c.(940-942)Gta>Ata p.V314I ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.V246I NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 321 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CCCCGGCAATGTACTGGTGCG 0.572000 7 42 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570648 104570648 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:104570648C>T ENST00000551177.1 + 8 853 c.761C>T c.(760-762)gCc>gTc p.A254V ASPG_ENST00000546892.2_Missense_Mutation_p.A254V|ASPG_ENST00000455920.2_Missense_Mutation_p.A254V NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 254 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CAGGTTCGGGCCTTCTTGCAG 0.682000 8 16 0 0 1 0 0 SCML1 6322 broad.mit.edu 37 X 17771498 17771498 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:17771498T>C ENST00000380043.3 + 7 1223 c.895T>C c.(895-897)Tgc>Cgc p.C299R SCML1_ENST00000380045.3_Missense_Mutation_p.C205R|SCML1_ENST00000380041.3_Missense_Mutation_p.C326R|SCML1_ENST00000398080.1_Missense_Mutation_p.C205R NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 326 SAM. anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) ACAAGGAAAATGCTTTGAAAA 0.438000 18 53 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61187078 61187078 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:61187078C>T ENST00000216513.4 - 2 1008 c.949G>A c.(949-951)Gat>Aat p.D317N NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 317 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GTGATGCCATCAGATGAACTG 0.458000 17 57 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49940149 49940149 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:49940149G>A ENST00000296474.3 - 1 921 c.894C>T c.(892-894)ctC>ctT p.L298L CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.L298L NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 298 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) ATCTGCAGTCGAGGACCAGCT 0.667000 16 76 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3786703 3786703 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:3786703T>C ENST00000262367.5 - 27 5317 c.4508A>G c.(4507-4509)tAc>tGc p.Y1503C CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1465C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1503 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.Y1503F(2) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CATCTTTTTGTACCACTCCTG 0.507000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 32 57 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6826270 6826270 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:6826270G>A ENST00000307659.5 + 3 545 c.90G>A c.(88-90)atG>atA p.M30I KIAA0232_ENST00000425103.1_Missense_Mutation_p.M30I NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 30 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 TTTCTGAAATGTCTCTGCTTC 0.468000 46 110 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143800283 143800283 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:143800283G>C ENST00000367591.4 + 10 952 c.889G>C c.(889-891)Gag>Cag p.E297Q NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 297 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) CAATATGGCTGAGTTCTTTCG 0.318000 21 25 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27438821 27438821 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:27438821C>T ENST00000527372.1 - 16 2839 c.2659G>A c.(2659-2661)Gct>Act p.A887T MYO18A_ENST00000531253.1_Missense_Mutation_p.A887T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A887T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A887T NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 887 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGCACCAGAGCCTCCTCTTCC 0.592000 OREG0024287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 22 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16380202 16380202 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:16380202T>G ENST00000375679.4 + 16 1802 c.1691T>G c.(1690-1692)cTg>cGg p.L564R CLCNKB_ENST00000375667.3_Missense_Mutation_p.L395R NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GACATGCCACTGGAGGAGGTG 0.627000 5 27 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206224503 206224503 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:206224503T>C ENST00000367126.4 + 1 528 c.63T>C c.(61-63)aaT>aaC p.N21N NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 21 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CTGCCCCCAATGCCACAACAC 0.657000 48 92 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56690865 56690865 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:56690865A>G ENST00000389934.3 - 9 1039 c.922T>C c.(922-924)Tgt>Cgt p.C308R TEX14_ENST00000349033.5_Missense_Mutation_p.C308R|TEX14_ENST00000240361.8_Missense_Mutation_p.C314R NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 314 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGGAGAGACACACAGCCATC 0.483000 4 66 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30825275 30825275 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:30825275G>T ENST00000383096.3 - 15 1709 c.1527C>A c.(1525-1527)ttC>ttA p.F509L CCDC178_ENST00000406524.2_Missense_Mutation_p.F509L|CCDC178_ENST00000402325.1_Missense_Mutation_p.F509L|CCDC178_ENST00000403303.1_Missense_Mutation_p.F509L|CCDC178_ENST00000300227.8_Missense_Mutation_p.F509L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.F509L|CCDC178_ENST00000583930.1_Missense_Mutation_p.F509L coiled-coil domain containing 178 TGGTTAGGTGGAAAAGAGTAC 0.328000 6 14 8.12818e-05 8.43685e-05 1 1 0 TRPV6 55503 broad.mit.edu 37 7 142569514 142569514 + Silent SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:142569514A>T ENST00000359396.3 - 15 2369 c.2124T>A c.(2122-2124)cgT>cgA p.R708R NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 708 Interaction with calmodulin. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TGATTATCCCACGCAGGTCTC 0.562000 4 42 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127520035 127520035 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:127520035G>A ENST00000299130.3 + 5 470 c.458G>A c.(457-459)tGt>tAt p.C153Y BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Missense_Mutation_p.C153Y|BCCIP_ENST00000278100.6_Missense_Mutation_p.C153Y|BCCIP_ENST00000429863.2_Missense_Mutation_p.C123Y NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 153 Interaction with BRCA2. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTACGCTTCTGTGAGAAGAAC 0.413000 9 62 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825300 121825300 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:121825300T>C ENST00000330540.2 + 4 772 c.656T>C c.(655-657)aTt>aCt p.I219T CD86_ENST00000493101.1_Missense_Mutation_p.I107T|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.I137T|CD86_ENST00000393627.2_Missense_Mutation_p.I213T NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 219 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ATCTTCTGTATTCTGGAAACT 0.388000 54 119 0 0 1 0 0 MRPS24 64951 broad.mit.edu 37 7 43906362 43906362 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:43906362T>A ENST00000317534.5 - 4 501 c.440A>T c.(439-441)tAc>tTc p.Y147F URGCP-MRPS24_ENST00000603700.1_3'UTR NM_032014.2 NP_114403.1 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 147 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 AGGACATTTGTAAAAGTAGGA 0.483000 12 55 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48511945 48511945 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:48511945C>T ENST00000339841.2 + 2 199 c.21C>T c.(19-21)taC>taT p.Y7Y ELSPBP1_ENST00000597519.1_Silent_p.Y7Y NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 7 single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GGTCCAGTTACCTGTTGGGAT 0.468000 10 10 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69343933 69343933 + Missense_Mutation SNP T T A rs146368799 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:69343933T>A ENST00000193403.6 - 20 2769 c.2386A>T c.(2386-2388)Atg>Ttg p.M796L ACTN1_ENST00000376839.3_Missense_Mutation_p.M726L|ACTN1_ENST00000438964.2_Missense_Mutation_p.M791L|ACTN1_ENST00000394419.4_Missense_Mutation_p.M818L|ACTN1_ENST00000538545.2_Missense_Mutation_p.M791L NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 796 EF-hand 2. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACAATGCTCATGATGCGGGCA 0.562000 9 25 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43585846 43585846 + RNA SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:43585846T>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AATCCTCCAATGTACCTGACT 0.493000 8 34 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82409446 82409446 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:82409446T>C ENST00000370728.1 + 8 1836 c.1191T>C c.(1189-1191)ccT>ccC p.P397P LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.P397P|LPHN2_ENST00000370727.1_Silent_p.P397P|LPHN2_ENST00000370717.2_Silent_p.P397P|LPHN2_ENST00000370723.1_Silent_p.P397P|LPHN2_ENST00000319517.6_Silent_p.P397P|LPHN2_ENST00000359929.3_Silent_p.P397P|LPHN2_ENST00000370730.1_Silent_p.P397P|LPHN2_ENST00000370715.1_Silent_p.P397P|LPHN2_ENST00000335786.5_Silent_p.P397P|LPHN2_ENST00000370713.1_Silent_p.P397P|LPHN2_ENST00000394879.1_Silent_p.P397P|LPHN2_ENST00000370725.1_Silent_p.P397P|LPHN2_ENST00000370721.1_Silent_p.P401P O95490 LPHN2_HUMAN latrophilin 2 397 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CACCTGATCCTGCCCAAGGTA 0.348000 13 69 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132232119 132232119 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:132232119C>G ENST00000265343.5 - 11 2582 c.2203G>C c.(2203-2205)Gag>Cag p.E735Q AFF4_ENST00000378595.3_Missense_Mutation_p.E735Q NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 735 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGGGCGGCTCTGTTTCTTTG 0.453000 30 59 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111637044 111637044 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:111637044C>T ENST00000527614.1 - 1 107 c.42G>A c.(40-42)gcG>gcA p.A14A PPP2R1B_ENST00000311129.5_Silent_p.A14A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000341980.6_Silent_p.A14A|PPP2R1B_ENST00000393055.2_Silent_p.A14A|PPP2R1B_ENST00000426998.2_Silent_p.A14A NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 14 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CATCTCCACCCGCTGCTCCTG 0.667000 6 32 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45387236 45387236 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:45387236G>A ENST00000389039.6 - 32 4678 c.4293C>T c.(4291-4293)gaC>gaT p.D1431D DUOX2_ENST00000603300.1_Silent_p.D1431D Q9NRD8 DUOX2_HUMAN dual oxidase 2 1431 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTTGGATGATGTCAGCCAGCC 0.572000 3 23 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100179184 100179184 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:100179184G>A ENST00000524871.1 + 21 3004 c.2714G>A c.(2713-2715)aGa>aAa p.R905K CNTN5_ENST00000528682.1_Missense_Mutation_p.R905K|CNTN5_ENST00000527185.1_Missense_Mutation_p.R905K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R831K|CNTN5_ENST00000279463.3_Missense_Mutation_p.R905K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 905 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTCTAGGAAGACCACAGGGA 0.428000 5 17 0 0 1 0 0 SORD 6652 broad.mit.edu 37 15 45332609 45332609 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:45332609A>T ENST00000267814.9 + 2 250 c.70A>T c.(70-72)Aac>Tac p.N24Y SORD_ENST00000558580.1_Missense_Mutation_p.N3Y NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 24 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) CTTTTAGGAGAACTATCCTAT 0.308000 11 29 0 0 1 0 0 CYP2A7 1549 broad.mit.edu 37 19 41384769 41384769 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:41384769C>G ENST00000301146.4 - 5 1268 c.727G>C c.(727-729)Ggg>Cgg p.G243R CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G192R NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 243 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCCTCCAGCCCTTGCAGCAAC 0.537000 9 24 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86465051 86465051 + Silent SNP G G A rs144826636 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:86465051G>A ENST00000297814.2 - 16 3662 c.3519C>T c.(3517-3519)caC>caT p.H1173H RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Silent_p.H1076H|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Silent_p.H1107H|RP11-575L7.4_ENST00000589817.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1173 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TCTTTTGTTCGTGTTCCTTTT 0.418000 48 60 0 0 1 0 0 ATP5S 27109 broad.mit.edu 37 14 50788199 50788199 + Splice_Site SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:50788199A>C ENST00000245448.6 + 2 732 c.e2-1 ATP5S_ENST00000311459.7_Splice_Site|ATP5S_ENST00000426751.2_Splice_Site|ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000554438.1_Splice_Site NM_001003805.2 NP_001003805.1 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 12 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) TTGTGTGTCTAGATCAAATGA 0.418000 8 36 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46303791 46303791 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:46303791C>T ENST00000221538.3 - 5 1971 c.1829G>A c.(1828-1830)cGc>cAc p.R610H RSPH6A_ENST00000600188.1_Missense_Mutation_p.R346H|RSPH6A_ENST00000597055.1_Missense_Mutation_p.R610H NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 610 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GCAGGACAGGCGGGTGGTCCA 0.667000 8 21 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103596086 103596086 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:103596086C>T ENST00000560869.1 + 4 1509 c.870C>T c.(868-870)atC>atT p.I290I TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Silent_p.I290I Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 290 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) GTGACATCATCAACAGCCCCA 0.617000 8 19 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119048716 119048716 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:119048716G>A ENST00000371431.3 + 5 590 c.316G>A c.(316-318)Gac>Aac p.D106N AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 106 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 AGAGAGGAAAGACTTAATTCA 0.408000 21 87 0 0 1 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156721097 156721097 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:156721097C>T ENST00000264424.8 + 9 1128 c.1046C>T c.(1045-1047)aCg>aTg p.T349M GUCY1B3_ENST00000507146.1_Missense_Mutation_p.T281M|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.T281M|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.T371M|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.T281M|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.T329M|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.T349M NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 349 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) CATGATGCCACGCGCGATCTT 0.468000 4 32 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43918486 43918486 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:43918486G>A ENST00000336086.6 - 4 2683 c.447C>T c.(445-447)ctC>ctT p.L149L URGCP_ENST00000223341.7_Silent_p.L149L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Silent_p.L149L|URGCP_ENST00000447717.3_Silent_p.L149L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.L183L|URGCP_ENST00000453200.1_Silent_p.L192L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 192 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGTCTGAGGAGAGCAGCAGGG 0.527000 10 27 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374220 95374220 + RNA SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:95374220T>C ENST00000494840.1 - 0 1641 NR_077228.1 CCCACGTATGTGCAGTGACAT 0.423000 7 36 0 0 1 0 0 FAIM2 23017 broad.mit.edu 37 12 50283285 50283285 + Silent SNP G G A rs139044559 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:50283285G>A ENST00000320634.3 - 9 724 c.630C>T c.(628-630)acC>acT p.T210T FAIM2_ENST00000550890.1_Silent_p.T164T NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 210 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 AGCTGAAGACGGTGACTGAGA 0.652000 12 19 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57574709 57574709 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:57574709C>G ENST00000267811.5 + 19 2277 c.1973C>G c.(1972-1974)tCg>tGg p.S658W TCF12_ENST00000343827.3_Missense_Mutation_p.S488W|TCF12_ENST00000452095.2_Missense_Mutation_p.S678W|TCF12_ENST00000333725.5_Missense_Mutation_p.S682W|TCF12_ENST00000557843.1_Missense_Mutation_p.S658W|TCF12_ENST00000543579.1_Missense_Mutation_p.S512W|TCF12_ENST00000537840.1_Missense_Mutation_p.S422W|TCF12_ENST00000559710.1_Missense_Mutation_p.S292W|TCF12_ENST00000438423.2_Missense_Mutation_p.S682W|TCF12_ENST00000559703.1_Missense_Mutation_p.S315W NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 658 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TCTGCCGTATCGGCAGAGCCG 0.478000 T TEC extraskeletal myxoid chondrosarcoma 18 104 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48241511 48241511 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:48241511C>T ENST00000400384.2 + 3 1645 c.609C>T c.(607-609)ccC>ccT p.P203P MAPK4_ENST00000540640.1_5'UTR|MAPK4_ENST00000592595.1_Silent_p.P203P NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 203 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TCCTTTCCCCCAATAACTACA 0.502000 3 39 0 0 1 0 0 CRTAM 56253 broad.mit.edu 37 11 122742105 122742105 + Nonstop_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:122742105T>C ENST00000227348.4 + 10 1227 c.1180T>C c.(1180-1182)Tag>Cag p.*394Q CRTAM_ENST00000533709.1_Nonstop_Mutation_p.*195Q NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 0 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) GAGTATTGTGTAGTGCTCTCT 0.418000 7 28 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65919001 65919001 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:65919001G>A ENST00000321892.4 + 16 6042 c.5981G>A c.(5980-5982)cGg>cAg p.R1994Q BPTF_ENST00000306378.6_Missense_Mutation_p.R1868Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R1855Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R1994Q Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1994 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGTGCACTGCGGCCAAAGAGA 0.433000 11 56 0 0 1 0 0 PKIA 5569 broad.mit.edu 37 8 79510686 79510686 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:79510686A>G ENST00000396418.2 + 3 553 c.67A>G c.(67-69)Ata>Gta p.I23V PKIA_ENST00000518467.1_Missense_Mutation_p.I23V|PKIA_ENST00000352966.5_Missense_Mutation_p.I23V NM_006823.3|NM_181839.2 NP_006814.1|NP_862822.1 P61925 IPKA_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor alpha 23 cAMP-dependent protein kinase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 AAGAAATGCAATACATGATAT 0.398000 21 74 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 27016985 27016985 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:27016985A>G ENST00000443698.1 + 11 1041 c.870A>G c.(868-870)caA>caG p.Q290Q IFT74_ENST00000433700.1_Silent_p.Q290Q|IFT74_ENST00000380062.5_Silent_p.Q290Q|IFT74_ENST00000429045.2_Silent_p.Q290Q NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) 290 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) ATCGAGATCAAATGATTGCAG 0.403000 17 43 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5812138 5812138 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:5812138A>G ENST00000382674.2 + 20 3039 c.2855A>G c.(2854-2856)gAg>gGg p.E952G EVC_ENST00000264956.6_Missense_Mutation_p.E952G P57679 EVC_HUMAN Ellis van Creveld syndrome 952 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CCCAACAATGAGGACCTTGCC 0.592000 4 9 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177936929 177936929 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:177936929C>A ENST00000308284.6 - 2 277 c.188G>T c.(187-189)aGg>aTg p.R63M SEC16B_ENST00000464631.2_Missense_Mutation_p.R63M|RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 63 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 ATGGTCTGCCCTGGGCTCCTG 0.572000 25 30 1.64293e-13 1.8066e-13 1 1 0 ARMC5 79798 broad.mit.edu 37 16 31476378 31476378 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:31476378A>G ENST00000457010.2 + 4 2735 c.2034A>G c.(2032-2034)ccA>ccG p.P678P ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000408912.3_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 529 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CAGTCCCTCCATGGGCCCACA 0.647000 11 14 0 0 1 0 0 EMC9 51016 broad.mit.edu 37 14 24610507 24610507 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:24610507C>T ENST00000419198.2 - 1 287 c.7G>A c.(7-9)Gag>Aag p.E3K EMC9_ENST00000216799.4_Missense_Mutation_p.E3K|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR ER membrane protein complex subunit 9 ATCTCCACCTCCCCCATGGCG 0.667000 OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 23 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7888152 7888152 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:7888152C>A ENST00000332175.8 + 3 1282 c.245C>A c.(244-246)gCc>gAc p.A82D PTPRM_ENST00000400053.4_Missense_Mutation_p.A20D|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82D|PTPRM_ENST00000580170.1_Missense_Mutation_p.A82D NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 82 MAM. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GGGCAGAGAGCCCACCTGCTC 0.458000 28 96 5.61819e-17 6.22556e-17 1 1 0 MCM5 4174 broad.mit.edu 37 22 35812629 35812629 + Splice_Site SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:35812629A>T ENST00000216122.4 + 12 1567 c.e12-1 MCM5_ENST00000382011.5_Splice_Site|MCM5_ENST00000465557.1_Splice_Site NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 GTCGCCTGTTAGGCTGGGATC 0.552000 7 27 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231061312 231061312 + Silent SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:231061312C>G ENST00000366661.4 - 13 1546 c.1539G>C c.(1537-1539)ctG>ctC p.L513L TTC13_ENST00000366662.4_Silent_p.L460L|TTC13_ENST00000414259.1_Silent_p.L460L NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 513 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CATATTGCATCAGGGATCCCA 0.403000 21 59 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218285 134218285 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:134218285C>G ENST00000305233.5 + 2 340 c.281C>G c.(280-282)cCc>cGc p.P94R PWWP2B_ENST00000368609.4_Missense_Mutation_p.P94R NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 94 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GTTCAGCCCCCCGAGACCACC 0.746000 5 9 0 0 1 0 0 SBDS 51119 broad.mit.edu 37 7 66458277 66458277 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:66458277G>A ENST00000246868.2 - 3 569 c.386C>T c.(385-387)aCc>aTc p.T129I NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 129 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 AAGGATCACGGTGTATGGTCT 0.413000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 24 144 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127965871 127965871 + Splice_Site SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:127965871C>T ENST00000223073.2 - 11 1317 c.1203G>A c.(1201-1203)gaG>gaA p.E401E RBM28_ENST00000415472.2_Splice_Site_p.E260E NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TCTTCCTTACCTCATTCTCTG 0.408000 4 30 0 0 1 0 0 FAM199X 139231 broad.mit.edu 37 X 103411545 103411545 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:103411545C>A ENST00000493442.1 + 1 245 c.79C>A c.(79-81)Cct>Act p.P27T NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 27 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 CCTGGGACCTCCTCGCGGGGT 0.672000 3 8 0.115264 0.115667 1 1 0 TRERF1 55809 broad.mit.edu 37 6 42237328 42237328 + Translation_Start_Site SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:42237328T>C ENST00000541110.1 - 5 569 c.1A>G c.(1-3)Atg>Gtg p.M1V TRERF1_ENST00000372922.4_Start_Codon_SNP_p.M1V|TRERF1_ENST00000354325.2_Start_Codon_SNP_p.M1V|TRERF1_ENST00000372917.4_Start_Codon_SNP_p.M1V|TRERF1_ENST00000340840.2_Start_Codon_SNP_p.M1V Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1 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) TGGTCACCCATGCTGTCTGCC 0.483000 31 16 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56497762 56497762 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:56497762T>C ENST00000370754.5 - 27 3595 c.3596A>G c.(3595-3597)gAa>gGa p.E1199G DST_ENST00000244364.6_Missense_Mutation_p.E695G|DST_ENST00000518935.1_Missense_Mutation_p.E695G|DST_ENST00000370788.2_Missense_Mutation_p.E1021G|DST_ENST00000312431.6_Missense_Mutation_p.E1021G|DST_ENST00000361203.3_Missense_Mutation_p.E1021G|DST_ENST00000370769.4_Missense_Mutation_p.E1021G|DST_ENST00000370765.6_Missense_Mutation_p.E695G|DST_ENST00000421834.2_Missense_Mutation_p.E1021G|DST_ENST00000446842.2_Missense_Mutation_p.E695G Q03001 DYST_HUMAN dystonin 1021 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGGCTATCTTCCAGAAAATC 0.358000 22 49 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66410116 66410116 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:66410116G>A ENST00000341567.4 + 3 568 c.313G>A c.(313-315)Gag>Aag p.E105K NM_017994.4 NP_060464.1 transmembrane protein 248 CCAGGCCCTGGAGGACTCGGG 0.577000 18 43 0 0 1 0 0 TCF25 22980 broad.mit.edu 37 16 89961457 89961457 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:89961457G>C ENST00000263346.8 + 8 896 c.840G>C c.(838-840)caG>caC p.Q280H TCF25_ENST00000263347.7_Missense_Mutation_p.Q45H NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 280 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TTCTGCTCCAGACGAGCCCTT 0.562000 17 29 0 0 1 0 0 STOM 2040 broad.mit.edu 37 9 124103676 124103676 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:124103676G>T ENST00000286713.2 - 7 688 c.671C>A c.(670-672)gCc>gAc p.A224D STOM_ENST00000538954.1_Missense_Mutation_p.A173D|AL161784.1_ENST00000594963.1_Missense_Mutation_p.A18S|STOM_ENST00000347359.2_Missense_Mutation_p.A59D NM_001270526.1|NM_004099.5 NP_001257455.1|NP_004090.4 P27105 STOM_HUMAN stomatin 224 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) TTCTCCTTCGGCTGCAATAAC 0.522000 27 36 8.24728e-16 9.12127e-16 1 1 0 PHTF2 57157 broad.mit.edu 37 7 77549629 77549629 + Silent SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:77549629A>T ENST00000416283.2 + 8 834 c.708A>T c.(706-708)tcA>tcT p.S236S PHTF2_ENST00000422959.2_Silent_p.S236S|PHTF2_ENST00000424760.1_Silent_p.S232S|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Silent_p.S232S|PHTF2_ENST00000248550.7_Silent_p.S270S|PHTF2_ENST00000415251.2_Silent_p.S232S|PHTF2_ENST00000307305.8_Silent_p.S232S|PHTF2_ENST00000450574.1_Silent_p.S236S NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TTGATAAATCAACTGAAACTG 0.328000 6 18 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419246 55419246 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:55419246T>A ENST00000312422.2 + 1 867 c.867T>A c.(865-867)aaT>aaA p.N289K NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CACTGAGAAATGCAGAAGTAA 0.383000 4 238 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2861179 2861179 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:2861179C>T ENST00000545496.1 - 9 1419 c.1128G>A c.(1126-1128)acG>acA p.T376T ARSE_ENST00000381134.3_Silent_p.T351T|ARSE_ENST00000540563.1_Silent_p.T306T NM_001282628.1 NP_001269557.1 P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 351 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGTGATCCGACGTAAAATAAA 0.473000 9 43 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19175583 19175583 + Silent SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:19175583C>A ENST00000263200.10 - 28 4416 c.4344G>T c.(4342-4344)gtG>gtT p.V1448V CLTCL1_ENST00000353891.5_Silent_p.V1448V|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Silent_p.V1448V NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1448 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GGTAAGGCTTCACCAGGGGCA 0.582000 T ? ALCL 41 85 2.19962e-31 2.46598e-31 1 1 0 ARHGEF2 9181 broad.mit.edu 37 1 155922566 155922566 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:155922566C>A ENST00000462460.2 - 19 2226 c.1972G>T c.(1972-1974)Ggg>Tgg p.G658W ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.G585W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.G585W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.G614W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.G613W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.G612W Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCAAACAGCCCGACCTTCTCT 0.602000 4 34 5.9392e-07 6.28985e-07 1 1 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119393 32119393 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr21:32119393T>C ENST00000333892.2 - 1 158 c.128A>G c.(127-129)tAt>tGt p.Y43C NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 43 intermediate filament lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 gccagttccatagccagagcc 0.557000 16 45 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 410401 410401 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:410401A>C ENST00000280886.6 - 20 2477 c.2390T>G c.(2389-2391)aTg>aGg p.M797R DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.M118R NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 797 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCTGACCACCATGAGGCCATC 0.617000 17 25 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59001827 59001827 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:59001827G>T ENST00000589222.1 + 13 1121 c.1053G>T c.(1051-1053)gaG>gaT p.E351D BCAS3_ENST00000585744.1_Missense_Mutation_p.E122D|BCAS3_ENST00000588462.1_Missense_Mutation_p.E351D|BCAS3_ENST00000407086.3_Missense_Mutation_p.E351D|BCAS3_ENST00000390652.5_Missense_Mutation_p.E351D|BCAS3_ENST00000588874.1_Missense_Mutation_p.E122D|BCAS3_ENST00000408905.3_Missense_Mutation_p.E351D Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 351 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CTGCCCATGAGAAGCCAGTGT 0.393000 16 33 4.7546e-09 5.1012e-09 1 1 0 FAT2 2196 broad.mit.edu 37 5 150925519 150925519 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:150925519G>C ENST00000261800.5 - 9 5181 c.5169C>G c.(5167-5169)atC>atG p.I1723M NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1723 Cadherin 15. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTAAGACGAGATTTTCTCAT 0.408000 24 50 0 0 1 0 0 TREX2 11219 broad.mit.edu 37 X 152713230 152713230 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:152713230C>T ENST00000334497.2 - 10 1212 c.71G>A c.(70-72)cGt>cAt p.R24H TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000393862.2_5'UTR|HAUS7_ENST00000370211.4_3'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000414588.1_Missense_Mutation_p.V8I|TREX2_ENST00000370232.1_Missense_Mutation_p.R24H|TREX2_ENST00000402951.1_Missense_Mutation_p.R24H|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 24 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGCTGCAACGGCTTCTGCT 0.587000 Editing and processing nucleases 71 126 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43420506 43420506 + Translation_Start_Site SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:43420506G>C ENST00000601833.1 - 0 1268 PSG6_ENST00000187910.2_Missense_Mutation_p.I66M|PSG6_ENST00000402603.4_Missense_Mutation_p.I66M|PSG6_ENST00000292125.2_Missense_Mutation_p.I66M pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) CTTTGTACCAGATGTAGCCAG 0.448000 65 223 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134552526 134552526 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:134552526G>C ENST00000361388.2 + 3 508 c.42G>C c.(40-42)aaG>aaC p.K14N CALD1_ENST00000417172.1_Missense_Mutation_p.K14N|CALD1_ENST00000361901.2_Missense_Mutation_p.K14N|CALD1_ENST00000422748.1_Missense_Mutation_p.K14N|CALD1_ENST00000361675.2_Missense_Mutation_p.K14N NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 14 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GAAGGCAAAAGAGGGAGGAGA 0.458000 4 19 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941329 22941329 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:22941329G>A ENST00000397104.3 - 5 1108 c.1109C>T c.(1108-1110)gCt>gTt p.A370V ZNF99_ENST00000596209.1_Missense_Mutation_p.A461V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ATTGCTAAAAGCTTTGCTGCA 0.368000 20 33 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156955941 156955941 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:156955941T>C ENST00000368194.3 - 2 1096 c.57A>G c.(55-57)ggA>ggG p.G19G ARHGEF11_ENST00000361409.2_Silent_p.G19G NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 19 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGCAGAATCTCCCAGAGAAG 0.522000 13 38 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225591028 225591028 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:225591028G>A ENST00000338179.2 - 14 1950 c.1825C>T c.(1825-1827)Cgt>Tgt p.R609C LBR_ENST00000272163.4_Missense_Mutation_p.R609C NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 609 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GGAAATATACGGTAGGGCACA 0.438000 9 73 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21939629 21939629 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:21939629G>T ENST00000328843.6 + 82 13246 c.13215G>T c.(13213-13215)gaG>gaT p.E4405D DNAH11_ENST00000409508.3_Missense_Mutation_p.E4398D Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4405 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAAAAAATGAGTGGCCCCTGG 0.443000 Kartagener syndrome 13 27 1.15088e-07 1.22334e-07 1 1 0 SSBP4 170463 broad.mit.edu 37 19 18538730 18538730 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:18538730G>T ENST00000270061.7 + 4 511 c.217G>T c.(217-219)Gcg>Tcg p.A73S SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.A73S NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CCTGTACTGCGCGGCGCCTGA 0.667000 3 36 0.014758 0.0149402 1 1 0 ALG9 79796 broad.mit.edu 37 11 111724209 111724209 + Splice_Site SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:111724209C>T ENST00000524880.1 - 12 1782 c.e12-1 ALG9_ENST00000531154.1_Splice_Site|ALG9_ENST00000398006.2_Splice_Site|ALG9_ENST00000527228.1_Splice_Site Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) CCACAGGCACCTAAAACAGAG 0.368000 11 29 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40627508 40627508 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:40627508C>T ENST00000397536.2 - 7 861 c.826G>A c.(826-828)Gag>Aag p.E276K C15orf52_ENST00000559313.1_Missense_Mutation_p.E486K Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 486 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCTCCGGGCTCTGGGAGCCCT 0.662000 11 50 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111542403 111542403 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:111542403T>C ENST00000354925.2 - 6 2012 c.307A>G c.(307-309)Act>Gct p.T103A PITX2_ENST00000394595.3_Intron|PITX2_ENST00000306732.3_Missense_Mutation_p.T110A|PITX2_ENST00000557119.2_Missense_Mutation_p.T110A|PITX2_ENST00000394598.2_Missense_Mutation_p.T103A|PITX2_ENST00000355080.5_Missense_Mutation_p.T57A NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 103 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTCTGGAAAGTGGCCTCCAGC 0.612000 7 31 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33214834 33214834 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:33214834C>T ENST00000396033.2 - 6 886 c.751G>A c.(751-753)Ggt>Agt p.G251S ITGB1_ENST00000302278.3_Missense_Mutation_p.G251S|ITGB1_ENST00000374956.4_Missense_Mutation_p.G251S|ITGB1_ENST00000423113.1_Missense_Mutation_p.G251S NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 251 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GCATCGAAACCACCTTCTGGA 0.368000 18 40 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5141558 5141558 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:5141558A>G ENST00000380554.3 + 5 1139 c.487A>G c.(487-489)Att>Gtt p.I163V AKR1C3_ENST00000439082.2_Missense_Mutation_p.I44V|AKR1C3_ENST00000605149.1_Missense_Mutation_p.I140V NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 163 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) GGCCAAGTCCATTGGGGTGTC 0.517000 10 63 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44714125 44714125 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:44714125G>A ENST00000222673.5 + 7 946 c.904G>A c.(904-906)Gtg>Atg p.V302M OGDH_ENST00000443864.2_Missense_Mutation_p.V302M|OGDH_ENST00000444676.1_Missense_Mutation_p.V317M|OGDH_ENST00000439616.2_Missense_Mutation_p.V152M|OGDH_ENST00000447398.1_Missense_Mutation_p.V313M|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000543843.1_Missense_Mutation_p.V253M|OGDH_ENST00000449767.1_Missense_Mutation_p.V298M NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 302 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TGAGAATGGCGTGGACTACGT 0.562000 14 38 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 68937665 68937665 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr15:68937665G>C ENST00000543950.1 + 2 521 c.167G>C c.(166-168)gGg>gCg p.G56A CORO2B_ENST00000540068.1_Missense_Mutation_p.G56A|CORO2B_ENST00000566799.1_Missense_Mutation_p.G61A|CORO2B_ENST00000261861.5_Missense_Mutation_p.G56A NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 61 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GAGAGCGCAGGGGGCGGCTCC 0.627000 9 31 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239952 3239952 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:3239952G>A ENST00000217939.6 - 5 3928 c.3774C>T c.(3772-3774)agC>agT p.S1258S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1258 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGGAGAAGGGCTGGGCTTGG 0.453000 35 85 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244587308 244587308 + Silent SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:244587308C>A ENST00000366535.3 - 6 844 c.528G>T c.(526-528)cgG>cgT p.R176R ADSS_ENST00000462358.1_5'UTR NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 176 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) TGAGTCCACTCCGAGCAGCTT 0.398000 3 17 6.4e-05 6.65654e-05 1 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452336 100452336 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:100452336A>G ENST00000279907.7 - 14 2931 c.2719T>C c.(2719-2721)Tct>Cct p.S907P UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S557P NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 907 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CTTTTTGAAGACAAAAAATCC 0.363000 15 22 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371521 139371521 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:139371521C>A ENST00000313050.7 - 1 620 c.547G>T c.(547-549)Gac>Tac p.D183Y SEC16A_ENST00000371706.3_Missense_Mutation_p.D5Y|SEC16A_ENST00000290037.6_Missense_Mutation_p.D5Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.D5Y NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 5 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AGGGGTCGGTCGAGCCCAGGC 0.597000 6 69 2.7689e-08 2.95418e-08 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21268292 21268292 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:21268292T>A ENST00000602326.1 - 12 1788 c.1205A>T c.(1204-1206)gAa>gTa p.E402V EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E402V|EIF4G3_ENST00000374927.4_Missense_Mutation_p.E396V|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E407V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E396V|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E396V NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 396 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAGTTTCATTTCTTCTGGGGG 0.468000 7 66 0 0 1 0 0 STIP1 10963 broad.mit.edu 37 11 63971066 63971066 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:63971066A>G ENST00000358794.5 + 13 2225 c.1672A>G c.(1672-1674)Atg>Gtg p.M558V STIP1_ENST00000538945.1_Missense_Mutation_p.M487V|STIP1_ENST00000305218.4_Missense_Mutation_p.M511V NM_001282652.1 NP_001269581.1 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 511 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 CCTGGAACAGATGCAGAAGGA 0.602000 7 31 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47797837 47797837 + Splice_Site SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr18:47797837A>T ENST00000269468.5 - 16 2287 c.e16+1 MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000398495.2_3'UTR|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000457839.2_3'UTR|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000339998.6_Intron NM_015846.3 NP_056671.2 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 TGCAAATATCACCTTGAATCC 0.478000 45 120 0 0 1 0 0 TCHP 84260 broad.mit.edu 37 12 110344425 110344425 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:110344425C>A ENST00000312777.5 + 5 719 c.505C>A c.(505-507)Cag>Aag p.Q169K TCHP_ENST00000405876.4_Missense_Mutation_p.Q169K NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 169 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 TTGGGAAATGCAGAAAGAAGA 0.483000 4 17 0.000602214 0.000618374 1 1 0 HK2 3099 broad.mit.edu 37 2 75109301 75109301 + Nonsense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:75109301A>T ENST00000290573.2 + 12 2374 c.1774A>T c.(1774-1776)Aag>Tag p.K592* HK2_ENST00000409174.1_Nonsense_Mutation_p.K564* NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 592 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CATGGGCATGAAGGGCGTGTC 0.607000 5 32 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8996041 8996041 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:8996041T>C ENST00000344836.4 - 18 2143 c.1945A>G c.(1945-1947)Att>Gtt p.I649V USP7_ENST00000381886.4_Missense_Mutation_p.I633V|USP7_ENST00000535863.1_Missense_Mutation_p.I550V NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 649 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CTGAGCTCAATCATCTATTTC 0.408000 20 41 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21139390 21139390 + Silent SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:21139390T>A ENST00000377122.4 - 11 1446 c.1050A>T c.(1048-1050)ccA>ccT p.P350P NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 350 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATTCAAGCATTGGCTTTCCCT 0.323000 23 39 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50824135 50824135 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr10:50824135G>T ENST00000395562.2 + 2 506 c.37G>T c.(37-39)Gta>Tta p.V13L CHAT_ENST00000455728.2_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000337653.2_Intron|CHAT_ENST00000351556.3_Intron|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000339797.1_Intron NM_001142933.1|NM_001142934.1 NP_001136405|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 0 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACTGAGCACAGTAGGTATGGT 0.507000 23 46 2.48779e-11 2.71482e-11 1 1 0 ACRC 93953 broad.mit.edu 37 X 70823546 70823546 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:70823546A>G ENST00000373695.1 + 7 956 c.419A>G c.(418-420)gAc>gGc p.D140G ACRC_ENST00000373696.3_Missense_Mutation_p.D140G Q96QF7 ACRC_HUMAN acidic repeat containing 140 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) GAAGTTCCCGACGACAACAGT 0.483000 76 168 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82644182 82644182 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:82644182A>C ENST00000533655.1 + 6 2014 c.1802A>C c.(1801-1803)aAt>aCt p.N601T C11orf82_ENST00000329143.3_Missense_Mutation_p.N300T|C11orf82_ENST00000430323.2_Missense_Mutation_p.N601T|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 601 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 AGGAAGTATAATGATGTCTCT 0.313000 6 38 0 0 1 0 0 CELA2B 51032 broad.mit.edu 37 1 15812408 15812408 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:15812408T>C ENST00000375910.3 + 6 531 c.506T>C c.(505-507)cTc>cCc p.L169P NM_015849.2 NP_056933 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 169 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 AACGGGGCTCTCCCTGATGAC 0.562000 39 99 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206605263 206605263 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:206605263T>C ENST00000360409.3 + 8 1958 c.1167T>C c.(1165-1167)gaT>gaC p.D389D NRP2_ENST00000357118.4_Silent_p.D389D|NRP2_ENST00000355117.4_Silent_p.D389D|NRP2_ENST00000272849.3_Silent_p.D389D|NRP2_ENST00000540841.1_Silent_p.D389D|NRP2_ENST00000417189.1_Silent_p.D389D|NRP2_ENST00000412873.2_Silent_p.D389D|NRP2_ENST00000357785.5_Silent_p.D389D|NRP2_ENST00000540178.1_Silent_p.D389D NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 389 F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCAACAACGATGCAACTGAGG 0.507000 11 25 0 0 1 0 0 C1QTNF3-AMACR 100534612 broad.mit.edu 37 5 34033491 34033491 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:34033491C>T ENST00000382079.3 - 3 295 c.221G>A c.(220-222)gGt>gAt p.G74D C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G90D|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G163D 90 CCCCAGGTCACCTTTGTCGCC 0.552000 4 59 0 0 1 0 0 GPR137B 7107 broad.mit.edu 37 1 236306309 236306309 + Silent SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:236306309C>G ENST00000366592.3 + 1 478 c.387C>G c.(385-387)ctC>ctG p.L129L GPR137B_ENST00000366591.4_Silent_p.L129L NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 129 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TTTTCACCCTCACGCTGATGA 0.612000 11 72 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25291229 25291229 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:25291229C>T ENST00000400358.4 + 18 2050 c.1993C>T c.(1993-1995)Ctg>Ttg p.L665L SGSM1_ENST00000400359.4_Silent_p.L720L NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 720 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GAACATCCGCCTGCACAGCGA 0.647000 4 5 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118972285 118972285 + Silent SNP G G C rs145055477 TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:118972285G>C ENST00000409993.2 - 3 1632 c.81C>G c.(79-81)acC>acG p.T27T DPAGT1_ENST00000354202.4_Silent_p.T27T|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_5'UTR Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 27 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CCGGGATGAGGGTGACTGTGG 0.617000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 70 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35949913 35949913 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:35949913T>G ENST00000490799.1 - 8 1363 c.1010A>C c.(1009-1011)gAc>gCc p.D337A SLC26A8_ENST00000355574.2_Missense_Mutation_p.D337A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.D232A NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 337 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AGGAATCATGTCAATAAGCGT 0.423000 22 50 0 0 1 0 0 AKTIP 64400 broad.mit.edu 37 16 53526354 53526354 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:53526354G>A ENST00000394657.7 - 10 1023 c.849C>T c.(847-849)ttC>ttT p.F283F AKTIP_ENST00000300245.4_Silent_p.F284F|AKTIP_ENST00000570004.1_Silent_p.F283F NM_001012398.1|NM_022476.2 NP_001012398.1|NP_071921.1 Q9H8T0 AKTIP_HUMAN AKT interacting protein apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport FHF complex|plasma membrane acid-amino acid ligase activity|protein binding large_intestine(1)|lung(2)|prostate(2) 5 all_cancers(37;0.14) CTTCTTTACTGAAAGGCTGTA 0.463000 13 66 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121741723 121741723 + Missense_Mutation SNP G G C rs146679922 byFrequency TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:121741723G>C ENST00000393376.1 - 11 1385 c.1290C>G c.(1288-1290)gaC>gaG p.D430E AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.D430E Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 430 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GCTGTGTCGCGTCTGATAATA 0.323000 5 31 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6715471 6715471 + Silent SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:6715471A>C ENST00000309577.6 - 2 232 c.69T>G c.(67-69)ctT>ctG p.L23L CHD4_ENST00000544040.1_Silent_p.L23L|CHD4_ENST00000544484.1_Silent_p.L23L|CHD4_ENST00000357008.2_Silent_p.L23L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 23 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGTTGTTCAAAAGTGCATCCA 0.657000 12 17 0 0 1 0 0 VASN 114990 broad.mit.edu 37 16 4431764 4431764 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:4431764G>A ENST00000304735.3 + 2 1041 c.886G>A c.(886-888)Gcc>Acc p.A296T CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 296 extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 GCTGGCAGCTGCCCGCAACCC 0.697000 6 21 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67430091 67430091 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:67430091T>C ENST00000355520.5 - 9 1377 c.736A>G c.(736-738)Atg>Gtg p.M246V OPHN1_ENST00000540071.1_Missense_Mutation_p.M246V NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 246 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 AGTTCTTCCATCTCTTCCCGG 0.373000 11 20 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123210199 123210199 + Nonsense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:123210199G>T ENST00000371160.1 + 26 2841 c.2551G>T c.(2551-2553)Gaa>Taa p.E851* STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E851*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.E851*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E851*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E851*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E782* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 851 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 GCAAGAGGATGAAGCCAGTAA 0.348000 12 74 0.000151284 0.000156182 1 1 0 MAMDC2 256691 broad.mit.edu 37 9 72840727 72840727 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:72840727A>C ENST00000377182.4 + 13 2590 c.1973A>C c.(1972-1974)aAa>aCa p.K658T SMC5-AS1_ENST00000594708.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 658 MAM 4. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GATGATGTTAAATTTCAGGCA 0.318000 5 30 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96624901 96624901 + Nonsense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:96624901G>A ENST00000376747.3 - 11 1187 c.1117C>T c.(1117-1119)Cag>Tag p.Q373* NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 373 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCGCCTGGCTGAATTTTAAAT 0.338000 11 26 0 0 1 0 0 RAB14 51552 broad.mit.edu 37 9 123953011 123953011 + Splice_Site SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:123953011T>G ENST00000373840.4 - 4 344 c.e4-2 NM_016322.3 NP_057406.2 P61106 RAB14_HUMAN RAB14, member RAS oncogene family embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle GDP binding|GTP binding|GTPase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CAGCCATAACTGTTAAGGAGG 0.358000 12 40 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2411650 2411650 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:2411650G>A ENST00000449969.1 + 4 624 c.463G>A c.(463-465)Gac>Aac p.D155N PLCH2_ENST00000378486.3_Missense_Mutation_p.D182N|PLCH2_ENST00000419816.2_Missense_Mutation_p.D182N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D182N O75038 PLCH2_HUMAN phospholipase C, eta 2 182 Necessary for plasma membrane localization (By similarity).|PH. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TGACGAGGCCGACAAGAACGG 0.617000 16 47 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124404582 124404582 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:124404582T>C ENST00000303921.2 - 1 1099 c.449A>G c.(448-450)gAg>gGg p.E150G NM_005302.3 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 150 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCTTCCTCCTCTGAGATCTG 0.607000 18 66 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25820123 25820123 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:25820123G>T ENST00000428257.1 - 2 295 c.188C>A c.(187-189)aCt>aAt p.T63N NGLY1_ENST00000396649.3_Missense_Mutation_p.T63N|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.T63N|NGLY1_ENST00000417874.2_Missense_Mutation_p.T21N NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 63 PUB. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CAAGAGTCTAGTAGAAAAGGC 0.363000 15 69 5.35267e-07 5.67917e-07 1 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64700272 64700272 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:64700272G>A ENST00000164133.2 + 12 1774 c.1152G>A c.(1150-1152)gaG>gaA p.E384E NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 384 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GGAACAATGAGTATATCCTAA 0.527000 19 39 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162813747 162813747 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:162813747G>A ENST00000375514.5 + 20 3020 c.2733G>A c.(2731-2733)ctG>ctA p.L911L SLC4A10_ENST00000421911.1_Silent_p.L930L|SLC4A10_ENST00000272716.5_Silent_p.L900L|SLC4A10_ENST00000415876.2_Silent_p.L900L|SLC4A10_ENST00000446997.1_Silent_p.L930L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 930 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CCAGTATTCTGAAGGTAACAA 0.333000 6 13 0 0 1 0 0 METTL15 196074 broad.mit.edu 37 11 28232615 28232615 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:28232615C>T ENST00000342303.5 + 4 732 c.277C>T c.(277-279)Cta>Tta p.L93L METTL15_ENST00000303459.6_Silent_p.L93L|METTL15_ENST00000407364.3_Silent_p.L93L|METTL15_ENST00000406787.3_Silent_p.L93L NM_152636.2 NP_689849.2 A6NJ78 MET15_HUMAN methyltransferase like 15 93 methyltransferase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 CTAGATTTTTCTAGATATGAC 0.368000 11 27 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100813090 100813090 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:100813090G>A ENST00000355338.2 - 7 1437 c.819C>T c.(817-819)gaC>gaT p.D273D WARS_ENST00000392882.2_Silent_p.D273D|WARS_ENST00000557135.1_Silent_p.D273D|WARS_ENST00000344102.5_Silent_p.D232D|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Silent_p.D232D|WARS_ENST00000358655.4_Silent_p.D232D NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 273 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TACCAATGCAGTCGCTGTCAG 0.468000 12 35 0 0 1 0 0 CTSL3P 392360 broad.mit.edu 37 9 90388527 90388527 + RNA SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:90388527G>A ENST00000354530.2 + 0 393 NR_027917.1 TGGAGGCCTGGACTCTGAGGA 0.463000 33 46 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49197844 49197844 + Silent SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:49197844C>A ENST00000262013.7 - 1 382 c.174G>T c.(172-174)ctG>ctT p.L58L SPAG9_ENST00000505279.1_Silent_p.L58L|SPAG9_ENST00000357122.4_Silent_p.L58L NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 58 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CCAGGTTCTCCAGCACAGCCA 0.652000 11 16 0.000151284 0.000156182 1 1 0 SDPR 8436 broad.mit.edu 37 2 192711255 192711255 + Missense_Mutation SNP C C G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:192711255C>G ENST00000304141.4 - 1 726 c.397G>C c.(397-399)Gat>Cat p.D133H NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 133 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CACTGCCTATCCATGCGCTCT 0.607000 3 31 0 0 1 0 0 TRGV9 6983 broad.mit.edu 37 7 38356729 38356729 + RNA SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:38356729C>T ENST00000444775.2 - 0 1623 ATTTGCCTGACGGAATGCCGG 0.453000 15 28 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173998673 173998673 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:173998673A>G ENST00000457714.1 + 7 2481 c.2052A>G c.(2050-2052)gcA>gcG p.A684A NLGN1_ENST00000361589.4_Silent_p.A684A|NLGN1_ENST00000401917.3_Silent_p.A724A|NLGN1_ENST00000545397.1_Silent_p.A684A NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 701 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CAGTTGGAGCATCACTGCTGT 0.478000 19 29 0 0 1 0 0 DCTD 1635 broad.mit.edu 37 4 183836102 183836102 + Missense_Mutation SNP T T G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:183836102T>G ENST00000438320.2 - 3 508 c.218A>C c.(217-219)aAt>aCt p.N73T DCTD_ENST00000357067.3_Missense_Mutation_p.N84T|DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000510370.1_Missense_Mutation_p.N73T NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase 73 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) GTCCAGCTTATTCTCTGCTGT 0.463000 12 25 0 0 1 0 0 TRAV29DV5 28653 broad.mit.edu 37 14 22631736 22631736 + RNA SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:22631736G>C ENST00000390458.3 + 0 439 CCAGCCTGGAGACTCTGCAGT 0.498000 6 10 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166859220 166859220 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:166859220T>C ENST00000423058.2 - 21 4063 c.4046A>G c.(4045-4047)aAt>aGt p.N1349S SCN1A_ENST00000409050.1_Missense_Mutation_p.N1321S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1349S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1338S NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1349 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGAAGCACATTCATGATGGA 0.353000 10 28 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74751326 74751326 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:74751326A>G ENST00000404568.3 - 4 759 c.540T>C c.(538-540)gaT>gaC p.D180D DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Silent_p.D180D NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 180 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 CCTGGAGTGAATCTGATGCCA 0.612000 12 49 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821597 72821597 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:72821597G>A ENST00000268489.5 - 10 11250 c.10578C>T c.(10576-10578)ggC>ggT p.G3526G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2612G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3526 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGTACGAgccgccgccgccgc 0.692000 32 62 0 0 1 0 0 BID 637 broad.mit.edu 37 22 18220843 18220843 + Missense_Mutation SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr22:18220843G>T ENST00000317361.7 - 5 980 c.654C>A c.(652-654)caC>caA p.H218Q BID_ENST00000342111.5_3'UTR|BID_ENST00000399767.1_Missense_Mutation_p.H76Q|BID_ENST00000399774.3_Missense_Mutation_p.H172Q|BID_ENST00000473439.1_5'UTR|BID_ENST00000551952.1_Missense_Mutation_p.H172Q|BID_ENST00000399765.1_Missense_Mutation_p.H76Q NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 172 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) TCACTGTTGTGTGAAAGACAT 0.542000 14 57 2.61681e-11 2.84479e-11 1 1 0 ANXA6 309 broad.mit.edu 37 5 150512104 150512104 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr5:150512104C>T ENST00000354546.5 - 10 896 c.669G>A c.(667-669)ggG>ggA p.G223G ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Silent_p.G191G|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Silent_p.G223G NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 223 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAATCGGCTTCCCTGTGGTCT 0.532000 4 8 0 0 1 0 0 TCEAL8 90843 broad.mit.edu 37 X 102508734 102508734 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:102508734G>A ENST00000372685.3 - 3 410 c.174C>T c.(172-174)ggC>ggT p.G58G TCEAL8_ENST00000360000.4_Silent_p.G58G NM_153333.2 NP_699164.1 Q8IYN2 TCAL8_HUMAN transcription elongation factor A (SII)-like 8 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|lung(1)|ovary(1) 4 TAAATCCCTGGCCAGGCTGAT 0.502000 31 61 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25283907 25283907 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr13:25283907C>T ENST00000218548.6 + 19 3055 c.2722C>T c.(2722-2724)Cgg>Tgg p.R908W ATP12A_ENST00000381946.3_Missense_Mutation_p.R902W NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 902 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CATTAACCTGCGGGTAGAATG 0.532000 28 68 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125076611 125076611 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:125076611A>C ENST00000522917.1 + 26 3558 c.3352A>C c.(3352-3354)Act>Cct p.T1118P FER1L6_ENST00000399018.1_Missense_Mutation_p.T1118P|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1118 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCTAACAGCCACTGAGTCCTC 0.537000 23 72 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123374755 123374755 + Missense_Mutation SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr9:123374755A>C ENST00000373930.3 - 4 1117 c.1006T>G c.(1006-1008)Ttt>Gtt p.F336V MEGF9_ENST00000426959.1_Missense_Mutation_p.F373V NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 336 Laminin EGF-like 3. integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 CTCTGATAAAATCCTTCTTTA 0.368000 9 27 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147113654 147113654 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr3:147113654T>C ENST00000383075.3 - 3 1185 c.673A>G c.(673-675)Aaa>Gaa p.K225E ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.K275E|ZIC4_ENST00000484399.1_Missense_Mutation_p.K225E|ZIC4_ENST00000425731.3_Missense_Mutation_p.K263E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K225E NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 225 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 TGAGTTCGTTTGTGTATTTTG 0.552000 24 45 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33148712 33148712 + Silent SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:33148712C>T ENST00000374820.2 - 11 1226 c.1206G>A c.(1204-1206)ttG>ttA p.L402L PIGU_ENST00000452740.2_3'UTR Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 422 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 CCTTGGCGGTCAAGTAGAGGC 0.617000 3 22 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 39 0 0 1 0 0 IFT43 112752 broad.mit.edu 37 14 76548996 76548996 + Silent SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr14:76548996G>A ENST00000314067.6 + 7 439 c.405G>A c.(403-405)ctG>ctA p.L135L IFT43_ENST00000238628.6_Silent_p.L140L NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 135 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 ACCGTGACCTGGACAATGACC 0.557000 17 48 0 0 1 0 0 FANCL 55120 broad.mit.edu 37 2 58468439 58468439 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr2:58468439T>A ENST00000402135.3 - 1 46 c.10A>T c.(10-12)Acg>Tcg p.T4S FANCL_ENST00000233741.4_Missense_Mutation_p.T4S|FANCL_ENST00000403295.3_Missense_Mutation_p.T4S|FANCL_ENST00000540646.1_Missense_Mutation_p.T4S NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 4 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 CTCGCTTCCGTCACCGCCATG 0.637000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 14 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30496506 30496506 + Splice_Site SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr20:30496506G>A ENST00000375938.4 + 5 571 c.e5+1 TTLL9_ENST00000535842.1_Splice_Site|TTLL9_ENST00000375934.4_Splice_Site|TTLL9_ENST00000375922.4_Splice_Site|TTLL9_ENST00000310998.4_Splice_Site|TTLL9_ENST00000375921.2_Splice_Site Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCACTATGAGGTGAGCTGGGC 0.537000 4 16 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cccfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 5 8 --- --- --- --- DDX60L 91351 broad.mit.edu 37 4 169342991 169343007 + Frame_Shift_Del DEL TTTTGCCTGAGGACGTT TTTTGCCTGAGGACGTT - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr4:169342991_169343007delTTTTGCCTGAGGACGTT ENST00000511577.1 - 17 2545_2561 c.2298_2314delAACGTCCTCAGGCAAAA c.(2296-2316)ccaacgtcctcaggcaaaaccfs p.TSSGKT767fs DDX60L_ENST00000260184.7_Frame_Shift_Del_p.TSSGKT767fs|DDX60L_ENST00000505890.1_Frame_Shift_Del_p.TSSGKT767fs Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 767 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GAAGCATAGGTTTTGCCTGAGGACGTTGGGGCAACAA 0.488 23 74 --- --- --- --- HIST1H2AJ 8331 broad.mit.edu 37 6 27782265 27782280 + Frame_Shift_Del DEL TGGAGGTGACGCGGGA TGGAGGTGACGCGGGA - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr6:27782265_27782280delTGGAGGTGACGCGGGA ENST00000333151.3 - 1 327_342 c.239_254delTCCCGCGTCACCTCCA c.(238-255)atcccgcgtcacctccagfs p.IPRHLQ80fs NM_021066.2 NP_066544.1 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 80 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 11 GATGGCCAGCTGGAGGTGACGCGGGATGATGCGAGT 0.648 12 52 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100473270 100473272 + In_Frame_Del DEL GCA GCA - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr7:100473270_100473272delGCA ENST00000388793.4 + 2 279_281 c.59_61delGCA c.(58-63)cgcagc>cgc p.S21del SRRT_ENST00000457580.2_In_Frame_Del_p.S21del|SRRT_ENST00000347433.4_In_Frame_Del_p.S21del|SRRT_ENST00000432932.1_In_Frame_Del_p.S21del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 21 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGAAGAGAGCGCAGCGACTACGA 0.581 8 24 --- --- --- --- C8orf86 389649 broad.mit.edu 37 8 38386020 38386036 + Frame_Shift_Del DEL GTTTTAGTCTCTTGCTC GTTTTAGTCTCTTGCTC - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:38386020_38386036delGTTTTAGTCTCTTGCTC ENST00000358138.1 - 1 144_160 c.120_136delGAGCAAGAGACTAAAAC c.(118-138)gggagcaagagactaaaaccafs p.SKRLKP41fs C8orf86_ENST00000437935.2_Frame_Shift_Del_p.SKRLKP41fs NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 41 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 AACTTGGCTGGTTTTAGTCTCTTGCTCCCAAGCTCCT 0.516 13 23 --- --- --- --- FAM110B 90362 broad.mit.edu 37 8 59059449 59059461 + Frame_Shift_Del DEL TGCCCCTCCCCTG TGCCCCTCCCCTG - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr8:59059449_59059461delTGCCCCTCCCCTG ENST00000361488.3 + 5 1540_1552 c.660_672delTGCCCCTCCCCTG c.(658-672)tctgcccctcccctgfs p.SAPPL220fs FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 220 microtubule organizing center|mitochondrion|nucleus p.P223S(1)|p.P222H(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GCAGTAGCTCTGCCCCTCCCCTGCCTCCCAAGC 0.638 9 32 --- --- --- --- OR5L1 219437 broad.mit.edu 37 11 55579107 55579107 + Frame_Shift_Del DEL C C - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr11:55579107delC ENST00000333973.2 + 1 254 c.165delC c.(163-165)ctcfs p.L55fs NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GCTCTCGGCTCCACACCCCCA 0.463 45 145 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58160753 58160775 + Frame_Shift_Del DEL GGAGGCGCCCAACTCGGGCGCCC GGAGGCGCCCAACTCGGGCGCCC - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:58160753_58160775delGGAGGCGCCCAACTCGGGCGCCC ENST00000228606.4 - 1 259_281 c.50_72delGGGCGCCCGAGTTGGGCGCCTCC c.(49-72)tgggcgcccgagttgggcgcctccfs p.WAPELGAS17fs NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 17 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GGTAGCCTAGGGAGGCGCCCAACTCGGGCGCCCAGCGGACGCG 0.619 16 84 --- --- --- --- RNFT2 84900 broad.mit.edu 37 12 117217069 117217081 + Frame_Shift_Del DEL AGACTTTGTTCTG AGACTTTGTTCTG - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr12:117217069_117217081delAGACTTTGTTCTG ENST00000257575.4 + 7 1031_1043 c.798_810delAGACTTTGTTCTG c.(796-810)gcagactttgttctgfs p.ADFVL266fs RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Frame_Shift_Del_p.ADFVL266fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.ADFVL266fs Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 266 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) TGGGGATCGCAGACTTTGTTCTGAAGTACATCA 0.545 28 76 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29118702 29118704 + RNA DEL AGC AGC - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:29118702_29118704delAGC ENST00000564580.1 + 0 1448 CTB-134H23.3_ENST00000562618.1_RNA GCCAGGTCCAagcagcagcagca 0.660 2 4 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821614 72821615 + In_Frame_Ins INS - - ACT TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr16:72821614_72821615insACT ENST00000268489.5 - 10 11232_11233 c.10560_10561insAGT c.(10558-10563)ggcggc>ggcAGTggc p.3520_3521GG>GSG ZFHX3_ENST00000397992.5_In_Frame_Ins_p.2606_2607GG>GSG|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ccgccgccgccgccaccgccgc 0.703 12 48 --- --- --- --- APOC1P1 342 broad.mit.edu 37 19 45431267 45431268 + RNA INS - - A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chr19:45431267_45431268insA ENST00000574565.1 + 0 402 NR_028412.1 TGAACAGATTGAAAAAAAAAAC 0.525 2 4 --- --- --- --- RPS6KA3 6197 broad.mit.edu 37 X 20174206 20174228 + Splice_Site DEL TGACTGTATGGGGCTGCTCACCT TGACTGTATGGGGCTGCTCACCT - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7e487301-13ba-4467-b03b-7454cf100659 67ff99f6-3100-4d2f-8829-9a98a96c2c44 g.chrX:20174206_20174228delTGACTGTATGGGGCTGCTCACCT ENST00000379565.3 - 21 2306_2308 c.2099_2101delAGGTGAGCAGCCCCATACAGTCA c.(2098-2103)aaggtg>atg p.KV700fs RPS6KA3_ENST00000544447.1_Splice_Site_p.KV672fs|RPS6KA3_ENST00000379548.4_Splice_Site_p.KV670fs|RPS6KA3_ENST00000540702.1_Splice_Site_p.KV671fs|RPS6KA3_ENST00000479809.1_5'UTR NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 700 axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TGGAAAACAGTGACTGTATGGGGCTGCTCACCTTTACTAGATG 0.511 12 56 --- --- --- ---