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 DMXL2 23312 broad.mit.edu 37 15 51855614 51855614 + Nonsense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr15:51855614C>T ENST00000251076.5 - 6 818 c.531G>A c.(529-531)tgG>tgA p.W177* DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 177 cell junction|synaptic vesicle membrane Rab GTPase binding p.W177*(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CATCAGGAGACCATTCCATCA 0.308000 3 72 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8604860 8604860 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr19:8604860G>A ENST00000338257.8 - 16 1930 c.1663C>T c.(1663-1665)Cgc>Tgc p.R555C NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 555 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.R555C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GTGCTGGGGCGCCCCTTCTTG 0.637000 20 46 0 0 1 0 0 KLHL9 55958 broad.mit.edu 37 9 21333237 21333237 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr9:21333237G>A ENST00000359039.4 - 1 2142 c.1622C>T c.(1621-1623)gCc>gTc p.A541V KLHL9_ENST00000537938.1_Missense_Mutation_p.A473V Q9P2J3 KLHL9_HUMAN kelch-like family member 9 541 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) TTCAAAGACGGCAACTCCAAC 0.398000 5 275 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112516059 112516059 + Silent SNP A A G TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr12:112516059A>G ENST00000261745.4 - 7 845 c.597T>C c.(595-597)taT>taC p.Y199Y NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 199 cytoplasm protein binding p.Y199Y(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 GGATCATATAATAAAGTTCAA 0.299000 7 163 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29454710 29454710 + Missense_Mutation SNP T T C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr6:29454710T>C ENST00000377127.3 - 1 1028 c.970A>G c.(970-972)Agg>Ggg p.R324G NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 324 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.R324G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TCCTTCAGCCTTTTCTTTCTG 0.463000 5 220 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358388 124358388 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr10:124358388G>A ENST00000338354.3 + 26 3161 c.3055G>A c.(3055-3057)Gat>Aat p.D1019N DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1019 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.D1019N(3) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CACCGTGTGCGATGACAGCTG 0.602000 219 349 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227527 28227527 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr6:28227527G>A ENST00000343684.3 + 1 430 c.378G>A c.(376-378)gaG>gaA p.E126E NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 126 p.E126E(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 AGGAGAGAGAGAGGATTGGGG 0.542000 38 73 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49168464 49168464 + Missense_Mutation SNP C C G TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr11:49168464C>G ENST00000340334.7 - 20 2420 c.2052G>C c.(2050-2052)aaG>aaC p.K684N FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 699 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CCCCTGCATACTTGTTGTGGC 0.428000 4 205 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123954657 123954657 + Silent SNP C C T rs138045107 byFrequency TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr10:123954657C>T ENST00000369005.1 + 8 6277 c.5937C>T c.(5935-5937)ccC>ccT p.P1979P TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.P57P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000360561.3_Silent_p.P57P|TACC2_ENST00000515603.1_Silent_p.P1934P|TACC2_ENST00000358010.1_Silent_p.P125P|TACC2_ENST00000513429.1_Silent_p.P125P|TACC2_ENST00000368999.1_Silent_p.P57P|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Silent_p.P57P|TACC2_ENST00000453444.2_Silent_p.P1983P|TACC2_ENST00000515273.1_Silent_p.P1983P|TACC2_ENST00000334433.3_Silent_p.P1979P NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1979 Pro-rich. microtubule organizing center|nucleus nuclear hormone receptor binding p.P1979P(2) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCCCAGAACCCGAGGTCAGCA 0.622000 26 53 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7223203 7223203 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chrX:7223203G>A ENST00000217961.4 + 7 1295 c.1075G>A c.(1075-1077)Gga>Aga p.G359R NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 359 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity p.G359R(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) AATTCATGGCGGAAGTAATGG 0.458000 Ichthyosis 3 70 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141955370 141955370 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr7:141955370G>A ENST00000552471.1 - 2 483 c.164C>T c.(163-165)gCa>gTa p.A55V PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V Q8IYP2 PRS58_HUMAN protease, serine, 58 55 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.A55V(2) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 ATTGCAGTGTGCAGCTGTGAT 0.522000 33 78 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149360521 149360521 + Silent SNP T T A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr5:149360521T>A ENST00000286298.4 + 3 1633 c.1365T>A c.(1363-1365)ctT>ctA p.L455L NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 455 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity p.L455L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATACTCAGCTTTCTGGTGTGG 0.418000 39 92 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003566 52003566 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr19:52003566C>T ENST00000598614.1 - 1 61 c.62G>A c.(61-63)cGt>cAt p.R21H SIGLEC12_ENST00000291707.3_Intron NM_033329.1 NP_201586.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 0 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTGGAGAAACGAGGGTCAGC 0.607000 16 38 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371601 240371601 + Silent SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:240371601C>T ENST00000319653.9 + 5 3719 c.3489C>T c.(3487-3489)ccC>ccT p.P1163P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1163 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1306P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGGGCATACCCCCACCTCCCC 0.692000 2 1 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112486397 112486397 + Missense_Mutation SNP G G A rs138153075 byFrequency TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr6:112486397G>A ENST00000230538.7 - 13 2030 c.1633C>T c.(1633-1635)Cgt>Tgt p.R545C LAMA4_ENST00000424408.2_Missense_Mutation_p.R538C|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.R538C|LAMA4_ENST00000389463.4_Missense_Mutation_p.R538C NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 545 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.R538C(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGAGTTAGACGAGGTGTTGTC 0.448000 35 83 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212486 149212486 + Missense_Mutation SNP A A T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr5:149212486A>T ENST00000309241.5 + 5 882 c.850A>T c.(850-852)Atg>Ttg p.M284L PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 284 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.M284L(2) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCAGGAAGACATGCAGGCGAT 0.672000 31 87 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48736776 48736776 + Missense_Mutation SNP C C A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr15:48736776C>A ENST00000316623.5 - 49 6454 c.5999G>T c.(5998-6000)tGc>tTc p.C2000F NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2000 EGF-like 34; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.C2000F(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCCAGGTGGGCAAATGCATCT 0.433000 58 118 6.3237e-29 6.8296e-29 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 56 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27480528 27480528 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:27480528G>A ENST00000263980.3 - 1 873 c.298C>T c.(298-300)Cgc>Tgc p.R100C SLC9A1_ENST00000374086.3_Missense_Mutation_p.R100C|SLC9A1_ENST00000545949.1_5'UTR NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 100 regulation of pH integral to membrane sodium:hydrogen antiporter activity p.R100C(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) AAGGGGGTGCGCACGTGTGTG 0.592000 4 134 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974537 49974537 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr11:49974537C>T ENST00000555099.1 + 1 595 c.563C>T c.(562-564)aCt>aTt p.T188I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T188I(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTTGCCTGCACTAATACCCAC 0.438000 73 202 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55148263 55148263 + Silent SNP T T G TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr19:55148263T>G ENST00000396331.1 + 16 2244 c.1887T>G c.(1885-1887)ccT>ccG p.P629P LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Silent_p.P613P NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 629 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAACTGAGCCTCCTCCATCCC 0.652000 HNSCC(37;0.09) 4 65 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76868351 76868351 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr11:76868351G>A ENST00000409709.3 + 8 1034 c.762G>A c.(760-762)gtG>gtA p.V254V MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 254 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.V254V(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACTACCACGTGTTCTACTGCA 0.582000 11 14 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 110 0 0 1 0 0 TFB2M 64216 broad.mit.edu 37 1 246729332 246729332 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:246729332G>A ENST00000366514.4 - 1 294 c.109C>T c.(109-111)Ccg>Tcg p.P37S TFB2M_ENST00000544618.1_Missense_Mutation_p.P37S NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 37 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity p.P37S(1) breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) TTCCTCGCCGGCAAATGCTTT 0.627000 4 101 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10967711 10967711 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr3:10967711C>T ENST00000254488.2 + 9 1208 c.1142C>T c.(1141-1143)gCg>gTg p.A381V NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 381 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GCCTTTATTGCGTACCCCAAG 0.567000 6 473 0 0 1 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74562331 74562331 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr17:74562331G>A ENST00000225276.5 - 9 1299 c.980C>T c.(979-981)aCa>aTa p.T327I NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 327 protein glycosylation integral to Golgi membrane sialyltransferase activity p.T327I(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 GTAGTTGCTTGTGATGAATCC 0.448000 78 155 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27457443 27457443 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr2:27457443G>A ENST00000264705.4 + 23 3838 c.3676G>A c.(3676-3678)Gtt>Att p.V1226I CAD_ENST00000403525.1_Missense_Mutation_p.V1163I NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1226 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.V1226I(2) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTTCCCCTTCGTTTCCAAGAC 0.552000 48 99 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12136839 12136839 + Silent SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr16:12136839C>T ENST00000566228.1 + 5 402 c.333C>T c.(331-333)gaC>gaT p.D111D SNX29_ENST00000568359.1_3'UTR NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 0 cell communication phosphatidylinositol binding p.D111D(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TCGCCTCAGACGTGGGCCGGG 0.652000 3 34 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001717 177001717 + Missense_Mutation SNP G G C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:177001717G>C ENST00000367654.2 - 3 753 c.740C>G c.(739-741)aCt>aGt p.T247S ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S O14525 ASTN1_HUMAN astrotactin 1 247 cell migration|neuron cell-cell adhesion integral to membrane p.T247S(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCGCAGATCAGTGATGTCATA 0.622000 18 106 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216371806 216371806 + Missense_Mutation SNP G G A rs79279902 TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:216371806G>A ENST00000366943.2 - 18 4318 c.3932C>T c.(3931-3933)tCg>tTg p.S1311L RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1311L|USH2A_ENST00000307340.3_Missense_Mutation_p.S1311L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1311 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.S1311L(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCATTGGCCGATTCTACAAA 0.413000 HNSCC(13;0.011) 53 121 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6172165 6172165 + Silent SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr12:6172165C>T ENST00000261405.5 - 13 1742 c.1488G>A c.(1486-1488)gaG>gaA p.E496E NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 496 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.E496E(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCTGCAGGTCCTCCCCGTAGC 0.657000 OREG0021618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 21 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116937778 116937778 + Missense_Mutation SNP G G C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr7:116937778G>C ENST00000265441.3 - 4 1040 c.741C>G c.(739-741)aaC>aaG p.N247K NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 247 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity p.N247K(1) breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGCCATCCTGGTTCATGACCA 0.498000 61 120 0 0 1 0 0 GZMA 3001 broad.mit.edu 37 5 54405924 54405924 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr5:54405924G>A ENST00000274306.6 + 5 738 c.703G>A c.(703-705)Gga>Aga p.G235R NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 235 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity p.G235R(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AAATAAATGCGGAGACCCTCG 0.468000 35 106 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600584 29600584 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr13:29600584G>A ENST00000431530.3 + 1 1837 c.1779G>A c.(1777-1779)acG>acA p.T593T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 583 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.T593T(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGTTGAACACGTCCCCCAAAG 0.552000 22 68 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1988135 1988135 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr12:1988135G>A ENST00000382722.5 - 15 1993 c.1631C>T c.(1630-1632)gCg>gTg p.A544V CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A429V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A544V NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 544 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.A544V(2) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTACCGGGGCGCCAGCTTCAT 0.622000 8 24 0 0 1 0 0 GABRB2 0 broad.mit.edu 37 5 160886675 160886675 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr5:160886675C>T ENST00000274547.2 - 5 630 c.413G>A c.(412-414)cGc>cAc p.R138H GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000517547.1_Intron NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 138 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCGAATCATGCGGTTCTTAAC 0.448000 3 46 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158626393 158626393 + Missense_Mutation SNP G G C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:158626393G>C ENST00000368148.3 - 20 3039 c.2859C>G c.(2857-2859)gaC>gaG p.D953E SPTA1_ENST00000368147.3_Missense_Mutation_p.D953E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 953 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 p.D953E(1) 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) CTTTCATACTGTCTCCAAATG 0.413000 71 181 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531524 50531524 + Missense_Mutation SNP C C A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr10:50531524C>A ENST00000374144.3 + 3 1222 c.934C>A c.(934-936)Cta>Ata p.L312I C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 312 p.L312I(2) endometrium(1) 1 CACGACCTTGCTAAGAGAACC 0.577000 3 65 0.115264 0.115264 1 1 0 USP22 23326 broad.mit.edu 37 17 20910262 20910262 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr17:20910262G>A ENST00000261497.4 - 10 1472 c.1269C>T c.(1267-1269)acC>acT p.T423T USP22_ENST00000537526.2_Silent_p.T411T|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 423 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.T645T(1) endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 ACACATACGTGGTGATCTTCC 0.547000 4 25 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48638151 48638151 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr3:48638151C>T ENST00000203407.5 - 9 1505 c.1089G>A c.(1087-1089)atG>atA p.M363I NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 363 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding p.M363I(1) breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) CATCGATTTTCATTCGGTCAC 0.542000 14 92 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14822664 14822664 + Missense_Mutation SNP G G T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr12:14822664G>T ENST00000261170.3 - 10 1410 c.1274C>A c.(1273-1275)aCa>aAa p.T425K RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 425 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACCCCGGCCTGTAATATCATT 0.383000 4 148 0.00909568 0.0092673 1 1 0 PUM1 9698 broad.mit.edu 37 1 31406163 31406163 + Frame_Shift_Del DEL A A - TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:31406163delA ENST00000373747.3 - 22 3564 c.3465delT c.(3463-3465)cgfs p.R1155fs PUM1_ENST00000440538.2_Frame_Shift_Del_p.R1128fs|PUM1_ENST00000257075.5_Frame_Shift_Del_p.R1152fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.R1154fs|PUM1_ENST00000424085.2_Frame_Shift_Del_p.R910fs|PUM1_ENST00000423018.2_Frame_Shift_Del_p.R1010fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.R1190fs|PUM1_ENST00000373742.2_Frame_Shift_Del_p.R1093fs NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 1152 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AGGTGTACTTACGAAGAGTTG 0.532 68 165 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152329411 152329415 + Frame_Shift_Del DEL TTGCT TTGCT - TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:152329411_152329415delTTGCT ENST00000388718.5 - 3 919_923 c.847_851delAGCAA c.(847-852)tfs p.SN283fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 283 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCACTTGAATTGCTATAACCACAT 0.429 78 272 --- --- --- --- AF146191.4 0 broad.mit.edu 37 4 190818970 190818974 + RNA DEL AGGAA AGGAA - TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr4:190818970_190818974delAGGAA ENST00000511785.1 - 0 231 agggagagcgaggaaaggaaaggaa 0.483 6 5 --- --- --- --- RP11-991C1.2 0 broad.mit.edu 37 14 95516588 95516610 + RNA DEL GGAAGGAAGGAAGGAAAGAAGAA GGAAGGAAGGAAGGAAAGAAGAA - rs36211516 by1000genomes TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA ENST00000554033.1 + 0 41 aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg 0.448 3 6 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 3 4 --- --- --- --- CCDC144A 9720 broad.mit.edu 37 17 16612678 16612678 + Frame_Shift_Del DEL T T - TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr17:16612678delT ENST00000443444.2 + 5 1447 c.1307delT c.(1306-1308)gtfs p.V436fs CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000340621.5_Frame_Shift_Del_p.V435fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.V436fs A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 436 CCAGAAGTGGTTATGGTTGAA 0.353 27 47 --- --- --- ---