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 TGFBI 7045 broad.mit.edu 37 5 135382985 135382985 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr5:135382985G>A ENST00000442011.2 + 6 808 c.647G>A c.(646-648)cGg>cAg p.R216Q TGFBI_ENST00000305126.8_Missense_Mutation_p.R216Q NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 216 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AACTGTGCCCGGCTGCTGAAA 0.532000 21 78 0 0 1 0 0 ATP5SL 55101 broad.mit.edu 37 19 41939481 41939481 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:41939481C>T ENST00000221943.9 - 4 399 c.394G>A c.(394-396)Ggt>Agt p.G132S ATP5SL_ENST00000597457.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.G105S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.G111S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G132S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.G105S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G138S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G138S NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 132 breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 TCACAGTCACCGGCATCCACA 0.537000 44 114 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198678866 198678866 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:198678866G>A ENST00000367376.2 + 11 1249 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K PTPRC_ENST00000442510.2_Missense_Mutation_p.E362K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E312K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E199K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E201K NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 360 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.E360K(1) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCTTGAACCCGAACATGAGTA 0.279000 4 121 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6449551 6449551 + Missense_Mutation SNP G G A rs138713047 by1000genomes TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:6449551G>A ENST00000297056.6 - 15 2105 c.1936C>T c.(1936-1938)Cgg>Tgg p.R646W DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W|DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 646 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.R646W(1) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TCCAAGGCCCGCATCAGGATG 0.587000 4 117 0 0 1 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66770010 66770010 + Silent SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr16:66770010G>A ENST00000258198.2 - 5 873 c.667C>T c.(667-669)Ctg>Ttg p.L223L DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Silent_p.L146L NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 223 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) GGGATCCCCAGGTTATGAGTC 0.552000 4 50 0 0 1 0 0 WBP7 0 broad.mit.edu 37 19 36213342 36213342 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:36213342G>A ENST00000420124.1 + 4 2539 c.2539G>A c.(2539-2541)Gag>Aag p.E847K WBP7_ENST00000222270.7_Missense_Mutation_p.E847K|KMT2B_ENST00000607650.1_RNA GTCTGAAGATGAGTCGGTGGA 0.637000 6 18 0 0 1 0 0 NUDT13 25961 broad.mit.edu 37 10 74881976 74881976 + Missense_Mutation SNP A A C TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr10:74881976A>C ENST00000357321.4 + 4 385 c.267A>C c.(265-267)agA>agC p.R89S NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S NM_015901.4 NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 89 hydrolase activity|metal ion binding large_intestine(2)|lung(5) 7 Prostate(51;0.0119) ATGCACAAAGAATAGAAGATT 0.433000 5 129 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231337222 231337222 + Missense_Mutation SNP A A C TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:231337222A>C ENST00000444294.3 + 5 2351 c.1493A>C c.(1492-1494)cAg>cCg p.Q498P TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 498 COS. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CCGCTGCTGCAGGCCATCCAC 0.572000 5 19 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746501 37746501 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr9:37746501G>A ENST00000539465.1 + 16 5065 c.4472G>A c.(4471-4473)cGt>cAt p.R1491H FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1491H|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1491 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GGGGCCGTGCGTGACACCTTC 0.657000 6 30 0 0 1 0 0 BSX 390259 broad.mit.edu 37 11 122848488 122848488 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr11:122848488C>A ENST00000343035.2 - 3 619 c.571G>T c.(571-573)Ggt>Tgt p.G191C NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 191 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GCCTCTGAACCGCGGGGGCTG 0.657000 10 25 4.68919e-08 4.9497e-08 1 1 0 LILRB5 0 broad.mit.edu 37 19 54760375 54760375 + Missense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:54760375T>A ENST00000450632.1 - 3 409 c.332A>T c.(331-333)gAc>gTc p.D111V LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V|LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 111 Ig-like C2-type 1.|Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTCCAGGGGGTCACTGGGCTC 0.622000 32 93 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116066820 116066820 + Silent SNP G G T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr2:116066820G>T ENST00000410059.1 + 2 546 c.66G>T c.(64-66)ctG>ctT p.L22L DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.L15L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 22 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GGTAGGAACTGGGAAGTAACA 0.393000 14 32 7.93312e-07 8.2216e-07 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33132638 33132638 + Silent SNP G G A rs151319255 TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr6:33132638G>A ENST00000341947.2 - 64 5081 c.4854C>T c.(4852-4854)gaC>gaT p.D1618D COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000374708.4_Silent_p.D1532D|COL11A2_ENST00000374714.1_Silent_p.D1592D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000374713.1_Silent_p.D1571D|COL11A2_ENST00000357486.1_Silent_p.D1597D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1618 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.D1618D(1)|p.D1618E(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTGCGTGACGTCATCCCTAG 0.622000 3 9 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18504838 18504838 + Silent SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr9:18504838C>T ENST00000380548.4 + 2 414 c.75C>T c.(73-75)acC>acT p.T25T ADAMTSL1_ENST00000380570.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000327883.7_Silent_p.T25T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 25 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GTTCCAGGACCGCACGCTCCG 0.577000 5 81 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47493029 47493029 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr16:47493029A>G ENST00000320640.6 - 2 494 c.266T>C c.(265-267)gTa>gCa p.V89A ITFG1_ENST00000544001.2_5'UTR NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 89 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AGATACCTTTACTTTGGGTTT 0.274000 14 57 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49065748 49065748 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr3:49065748C>T ENST00000326739.4 - 4 296 c.257G>A c.(256-258)gGc>gAc p.G86D NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 86 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) GCCAATACCGCCTGTAAGCTA 0.493000 8 61 0 0 1 0 0 SASS6 163786 broad.mit.edu 37 1 100572509 100572509 + Missense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:100572509T>A ENST00000287482.5 - 12 1507 c.1367A>T c.(1366-1368)aAa>aTa p.K456I SASS6_ENST00000535161.1_Missense_Mutation_p.K289I|SASS6_ENST00000462159.1_5'UTR NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 456 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) TTCTTCAAGTTTTTTAACTGT 0.249000 8 30 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302800 123302800 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:123302800C>A ENST00000458573.2 + 2 1317 c.1160C>A c.(1159-1161)tCt>tAt p.S387Y LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 387 Pro-rich. cytoskeleton actin binding|tropomyosin binding ACACCTAGCTCTTCACCTTAT 0.512000 31 79 5.60225e-13 6.14093e-13 1 1 0 MOV10 4343 broad.mit.edu 37 1 113235477 113235477 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:113235477C>T ENST00000369644.1 + 8 1927 c.898C>T c.(898-900)Cgg>Tgg p.R300W MOV10_ENST00000413052.2_Missense_Mutation_p.R356W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R356W|MOV10_ENST00000369645.1_Missense_Mutation_p.R356W Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 356 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GCATGATATCCGGCACTATGA 0.602000 6 14 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73007695 73007695 + Missense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr15:73007695T>A ENST00000268057.4 + 5 325 c.284T>A c.(283-285)gTt>gAt p.V95D BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 95 adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 ACATGTGCAGTTCTTAGTCCT 0.433000 Bardet-Biedl syndrome 16 33 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103471673 103471673 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:103471673C>T ENST00000358392.2 - 17 2095 c.1778G>A c.(1777-1779)cGt>cAt p.R593H COL11A1_ENST00000353414.4_Missense_Mutation_p.R542H|COL11A1_ENST00000512756.1_Missense_Mutation_p.R465H|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.R581H NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 581 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGCACCTGGACGACCCTAATA 0.373000 7 65 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20078087 20078087 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr11:20078087A>G ENST00000540292.1 + 22 4705 c.4705A>G c.(4705-4707)Aaa>Gaa p.K1569E NAV2_ENST00000396087.3_Missense_Mutation_p.K1638E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000311043.8_Intron Q8IVL1 NAV2_HUMAN neuron navigator 2 1638 Ser-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ATCATGGGAGAAAAGTTCTGT 0.383000 15 49 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3293175 3293175 + Silent SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr9:3293175G>A ENST00000382004.3 - 7 944 c.633C>T c.(631-633)caC>caT p.H211H RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 211 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) GTTCCTGACAGTGTCGAAGGT 0.463000 5 80 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43698504 43698504 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:43698504C>T ENST00000405312.3 - 5 1468 c.1231G>A c.(1231-1233)Gtc>Atc p.V411I PSG4_ENST00000433626.2_Missense_Mutation_p.V318I|PSG4_ENST00000244295.9_Missense_Mutation_p.V318I NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 411 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GAGACTTTGACTGTGATGGAT 0.453000 76 210 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412284 43412284 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr21:43412284G>A ENST00000310826.5 - 3 2104 c.1921C>T c.(1921-1923)Cgc>Tgc p.R641C ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000398505.3_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GGCTTGCCGCGCCTTAACTTA 0.433000 4 104 0 0 1 0 0 VCX 26609 broad.mit.edu 37 X 7811726 7811726 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chrX:7811726A>G ENST00000381059.3 + 3 509 c.290A>G c.(289-291)gAg>gGg p.E97G VCX_ENST00000341408.4_Missense_Mutation_p.E97G NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 97 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) CCAGTGAGCGAGGGGACCCAG 0.697000 4 79 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 4 205 0 0 1 0 0 PRPF31 26121 broad.mit.edu 37 19 54627954 54627954 + Silent SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:54627954G>A ENST00000321030.4 + 8 1123 c.774G>A c.(772-774)acG>acA p.T258T PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.T258T|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.T258T NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 258 Nop. assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGCGCAAGACGCTGTCGGGCT 0.652000 14 34 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651127 75651127 + Missense_Mutation SNP C C T rs140277288 byFrequency TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr15:75651127C>T ENST00000565683.1 - 19 2226 c.2215G>A c.(2215-2217)Gtg>Atg p.V739M MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 722 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 TGGTTCCCCACGGCGCCCTCA 0.572000 3 41 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604621 58604621 + Silent SNP T T G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr11:58604621T>G ENST00000287275.1 - 5 733 c.343A>C c.(343-345)Aga>Cga p.R115R GLYATL2_ENST00000532258.1_Silent_p.R115R|GLYATL2_ENST00000533636.1_5'UTR NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 115 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GCAACCTTTCTTATTGCTTCA 0.398000 42 86 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629378 51629378 + Silent SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:51629378C>T ENST00000440804.3 + 3 808 c.741C>T c.(739-741)gaC>gaT p.D247D SIGLEC9_ENST00000250360.3_Silent_p.D247D NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 247 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TCCAAGGAGACGGCACAGGTA 0.597000 15 67 0 0 1 0 0 PACSIN1 0 broad.mit.edu 37 6 34499460 34499460 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr6:34499460C>A ENST00000538621.1 + 9 1366 c.1121C>A c.(1120-1122)aCc>aAc p.T374N PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 374 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GGCAGTGAGACCAACGGGGGC 0.627000 13 148 9.05144e-12 9.73457e-12 1 1 0 TTLL12 23170 broad.mit.edu 37 22 43576901 43576901 + Silent SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr22:43576901C>T ENST00000216129.6 - 3 456 c.393G>A c.(391-393)gcG>gcA p.A131A NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 131 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) GCTGCTGGCGCGCGTGCTCCA 0.667000 4 69 0 0 1 0 0 LIMD1 8994 broad.mit.edu 37 3 45637533 45637533 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr3:45637533C>T ENST00000273317.4 + 1 1183 c.1162C>T c.(1162-1164)Ctt>Ttt p.L388F LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 388 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CCCCACCAGTCTTGTCCATCC 0.612000 14 20 0 0 1 0 0 PPP2R5E 5529 broad.mit.edu 37 14 64006397 64006397 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr14:64006397A>G ENST00000337537.3 - 2 609 c.7T>C c.(7-9)Tca>Cca p.S3P PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 3 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GTTGGTGCTGAGGACATATCC 0.418000 14 48 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 79 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145583708 145583708 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr8:145583708G>A ENST00000532887.1 + 3 1139 c.556G>A c.(556-558)Gac>Aac p.D186N SLC52A2_ENST00000402965.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.D98N|SLC52A2_ENST00000329994.2_Missense_Mutation_p.D186N|SLC52A2_ENST00000530047.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000527078.1_Missense_Mutation_p.D186N Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 186 integral to plasma membrane receptor activity|riboflavin transporter activity CCCCCCGCTCGACTTCCTTGA 0.672000 5 77 0 0 1 0 0 STRBP 0 broad.mit.edu 37 9 125936108 125936108 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr9:125936108G>A ENST00000447404.2 - 4 542 c.238C>T c.(238-240)Cgg>Tgg p.R80W STRBP_ENST00000360998.3_Missense_Mutation_p.R66W|STRBP_ENST00000348403.5_Missense_Mutation_p.R80W Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 80 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 CACAATGTCCGACCACCTTGA 0.393000 28 67 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738113 19738113 + Silent SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:19738113C>T ENST00000222567.5 - 4 913 c.843G>A c.(841-843)aaG>aaA p.K281K NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 281 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 GGTGCTTTTTCTTCTTCTTCT 0.433000 12 486 0 0 1 0 0 RP11-1055B8.7 0 broad.mit.edu 37 17 79409111 79409111 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr17:79409111G>A ENST00000307745.7 + 9 736 c.736G>A c.(736-738)Ggc>Agc p.G246S GGAGGACGGTGGCAAGGAGCG 0.721000 3 14 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116066821 116066821 + Nonsense_Mutation SNP G G T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr2:116066821G>T ENST00000410059.1 + 2 547 c.67G>T c.(67-69)Gga>Tga p.G23* DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16* NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 23 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTAGGAACTGGGAAGTAACAG 0.393000 15 32 1.3612e-06 1.38551e-06 1 1 0 CLCA4 22802 broad.mit.edu 37 1 87045673 87045673 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:87045673A>G ENST00000370563.3 + 14 2447 c.2405A>G c.(2404-2406)gAc>gGc p.D802G RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 802 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GATCTAAGAGACAGTTTTGAT 0.343000 5 51 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97377673 97377673 + Silent SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr2:97377673G>A ENST00000264963.4 - 5 619 c.597C>T c.(595-597)ggC>ggT p.G199G LMAN2L_ENST00000534882.1_Silent_p.G54G|LMAN2L_ENST00000377079.4_Silent_p.G210G|LMAN2L_ENST00000426463.2_Silent_p.G65G|LMAN2L_ENST00000537039.1_Silent_p.G61G NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 199 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 TGGCTGTGCAGCCTCCCAGCT 0.557000 11 46 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196689149 196689149 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr2:196689149C>T ENST00000312428.6 - 49 9221 c.9121G>A c.(9121-9123)Gaa>Aaa p.E3041K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3041 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTAGTTCTTCGCCAACATTT 0.348000 6 64 0 0 1 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 3 20 0 0 1 0 0 HOXA9 3205 broad.mit.edu 37 7 27204581 27204581 + Nonsense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:27204581T>A ENST00000343483.6 - 1 568 c.496A>T c.(496-498)Aga>Tga p.R166* RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_Intron NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 166 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 TGTTTTTCTCTATCAACTGGA 0.537000 T """NUP98, MSI2""" AML* 9 50 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27499985 27499985 + Missense_Mutation SNP T T C TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr10:27499985T>C ENST00000396271.3 - 9 1088 c.962A>G c.(961-963)aAt>aGt p.N321S ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000476758.1_5'UTR NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 330 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 AAATGGTCCATTGTTGGACGT 0.363000 13 88 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153137810 153137810 + Splice_Site SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chrX:153137810C>T ENST00000370060.1 - 5 387 c.e5-1 L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 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) CCAGCGGAACCTGTGGGCGGA 0.647000 7 9 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87060768 87060768 + Missense_Mutation SNP G G T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:87060768G>T ENST00000265723.4 - 15 1956 c.1845C>A c.(1843-1845)agC>agA p.S615R ABCB4_ENST00000545634.1_Missense_Mutation_p.S615R|ABCB4_ENST00000453593.1_Missense_Mutation_p.S615R|ABCB4_ENST00000359206.3_Missense_Mutation_p.S615R|ABCB4_ENST00000358400.3_Missense_Mutation_p.S615R NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 615 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCATCAGTTCGCTGTGGCTTC 0.458000 42 75 1.15183e-24 1.28734e-24 1 1 0 RP11-615J4.3 0 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 5 --- --- --- --- SGCD 6444 broad.mit.edu 37 5 156186353 156186353 + Frame_Shift_Del DEL G G - TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr5:156186353delG ENST00000435422.3 + 8 1309 c.822delG c.(820-822)cafs p.Q274fs SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 274 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCTGTCTCAGGCAGGAGCTG 0.502 9 157 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 10 556 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445273 49445274 + Frame_Shift_Del DEL CT CT - TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr12:49445273_49445274delCT ENST00000301067.7 - 10 2191_2192 c.2192_2193delAG c.(2191-2193)gfs p.E731fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGAGTTGCGGCTCCTCAGGTAG 0.688 28 59 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372914 + RNA DEL G G - rs67181940 TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr16:74372914delG ENST00000429810.2 - 0 1404 AACGTAGtttgtttttttttt 0.433 2 4 --- --- --- --- SMARCA1 6594 broad.mit.edu 37 X 128631828 128631829 + Frame_Shift_Ins INS - - T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chrX:128631828_128631829insT ENST00000371122.4 - 11 1626_1627 c.1497_1498insA c.(1495-1500)aaaacafs p.T500fs SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.T500fs|SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.T500fs NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 500 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TCACCCTGTTCTTTGAGTTTGG 0.312 28 18 --- --- --- ---