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 LGSN 51557 broad.mit.edu 37 6 63990012 63990012 + Nonsense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:63990012G>A ENST00000370657.4 - 4 1477 c.1444C>T c.(1444-1446)Cga>Tga p.R482* LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 482 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACAAAATATCGAATAAAGGTT 0.378000 11 371 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 5 87 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100681577 100681577 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:100681577G>A ENST00000370132.3 - 6 747 c.734C>T c.(733-735)cCg>cTg p.P245L DBT_ENST00000370131.3_Missense_Mutation_p.P245L NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 245 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TGTGAATACCGGAGGTTTTGA 0.388000 5 642 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 5 311 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46000100 46000100 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:46000100C>T ENST00000296137.2 - 13 3804 c.3599G>A c.(3598-3600)cGc>cAc p.R1200H FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H|FYCO1_ENST00000438446.1_5'UTR NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1200 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) ACAGAAGATGCGGCCACATAT 0.532000 5 381 0 0 1 0 0 LPCAT2 54947 broad.mit.edu 37 16 55579653 55579653 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:55579653C>T ENST00000262134.5 + 9 1043 c.859C>T c.(859-861)Cca>Tca p.P287S NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 287 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 TCAGTTTATGCCAGTTCAAGT 0.289000 5 363 0 0 1 0 0 GTSF1 121355 broad.mit.edu 37 12 54858949 54858949 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:54858949C>T ENST00000552397.1 - 3 915 c.19G>A c.(19-21)Gac>Aac p.D7N GTSF1_ENST00000552395.1_Intron|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 7 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TCCAGGGAGTCGGCTGAAAGA 0.428000 8 273 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 138 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715132 92715132 + Missense_Mutation SNP G G A rs150751119 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:92715132G>A ENST00000257068.2 + 2 749 c.743G>A c.(742-744)cGg>cAg p.R248Q NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 248 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AGCGACTTGCGGAGCTTTCTA 0.572000 7 376 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155239821 155239821 + Missense_Mutation SNP G G A rs140822242 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:155239821G>A ENST00000424344.3 + 10 1617 c.1250G>A c.(1249-1251)aGc>aAc p.S417N IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S438N Q01113 IL9R_HUMAN interleukin 9 receptor 438 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) agcagcagcagcaacaacaac 0.642000 5 109 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516511 102516511 + RNA SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:102516511C>T ENST00000557932.1 + 0 1459 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 AGACTTGGGCCGTTGCTCTGA 0.627000 10 330 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36445384 36445384 + Missense_Mutation SNP T T G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:36445384T>G ENST00000255448.4 - 5 1128 c.917A>C c.(916-918)aAg>aCg p.K306T DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000360631.3_Missense_Mutation_p.K306T NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 306 Pro/Ser-rich. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GGCAGGGGACTTGCTACGCCT 0.532000 6 556 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63053934 63053934 + Missense_Mutation SNP G G A rs143603462 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:63053934G>A ENST00000561311.1 + 37 4923 c.4693G>A c.(4693-4695)Gca>Aca p.A1565T TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T|TLN2_ENST00000472902.1_5'UTR Q9Y4G6 TLN2_HUMAN talin 2 1565 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CATCGCCACCGCACCCTTGAT 0.522000 6 601 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23654017 23654017 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:23654017G>A ENST00000305877.8 + 19 4067 c.3316G>A c.(3316-3318)Gac>Aac p.D1106N BCR_ENST00000359540.3_Missense_Mutation_p.D1062N|BCR_ENST00000436990.2_3'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 1106 Rho-GAP. D -> N. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GGCAGCCTTCGACGTCAGTGA 0.632000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 5 288 0 0 1 0 0 IGHV3-13 0 broad.mit.edu 37 14 106586383 106586383 + RNA SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr14:106586383C>T ENST00000390602.2 - 0 181 TCAGGGACCCCCCAGGCTGTA 0.562000 6 570 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136742933 136742933 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:136742933G>A ENST00000354570.3 - 2 482 c.72C>T c.(70-72)ccC>ccT p.P24P MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Silent_p.P9P|MAP7_ENST00000454590.1_Silent_p.P46P|MAP7_ENST00000438100.2_Silent_p.P46P NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 24 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGTAGCTGTCGGGTGCTACAG 0.373000 6 384 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220479983 220479983 + Nonsense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:220479983C>T ENST00000456909.1 + 24 3127 c.3037C>T c.(3037-3039)Cag>Tag p.Q1013* STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024* Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 1024 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCAGGGAGCAGCAGCCACT 0.647000 4 69 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156378 150156378 + Missense_Mutation SNP G G T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:150156378G>T ENST00000325307.7 + 5 690 c.594G>T c.(592-594)gaG>gaT p.E198D HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 198 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaggaggaggaTGAATAAA 0.463000 6 368 0.0215528 0.0220239 1 1 0 TNXB 7148 broad.mit.edu 37 6 32064921 32064921 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:32064921C>T ENST00000375244.3 - 3 910 c.709G>A c.(709-711)Gca>Aca p.A237T TNXB_ENST00000375247.2_Missense_Mutation_p.A237T|TNXB_ENST00000479795.1_Missense_Mutation_p.A237T P22105 TENX_HUMAN tenascin XB 237 EGF-like 3. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGAAGCCTGCCCGGCACACA 0.701000 4 85 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25674740 25674740 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:25674740G>A ENST00000382051.3 + 10 1130 c.1080G>A c.(1078-1080)ccG>ccA p.P360P SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 360 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCCACCTCCCGGATCTTGCTG 0.512000 T ROS1 NSCLC 18 561 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 5 534 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 5 578 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518385 108518385 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:108518385G>A ENST00000375915.2 - 1 698 c.560C>T c.(559-561)gCg>gTg p.A187V NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 187 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CACCGCGTCCGCATTCTCCAC 0.652000 7 669 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21204188 21204188 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:21204188G>A ENST00000342679.4 + 5 531 c.282G>A c.(280-282)cgG>cgA p.R94R MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_Silent_p.R65R NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 94 Protein kinase. R -> L (in dbSNP:rs56067280). activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCCTGCAGCGGATCCGGGCCA 0.612000 6 345 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 8 748 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 380 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:24993386G>T ENST00000323848.9 + 13 2024 c.1709G>T c.(1708-1710)cGc>cTc p.R570L SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.R570L(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCTCGACGGCGCAGGACTCCC 0.557000 6 305 0.000157383 0.0001626 1 1 0 ADCY6 112 broad.mit.edu 37 12 49164612 49164612 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:49164612G>A ENST00000307885.4 - 19 3887 c.3193C>T c.(3193-3195)Cgg>Tgg p.R1065W ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 1065 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TCCATGAGCCGCATGGCGTAG 0.552000 6 421 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4857048 4857048 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:4857048G>A ENST00000323997.6 + 6 484 c.352G>A c.(352-354)Gtg>Atg p.V118M ENO3_ENST00000518175.1_Missense_Mutation_p.V118M|ENO3_ENST00000519584.1_Missense_Mutation_p.V75M NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 118 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 GTCCTTGGCCGTGTGTAAGGC 0.612000 6 651 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99118343 99118343 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:99118343G>A ENST00000370992.4 - 33 3853 c.3742C>T c.(3742-3744)Ccg>Tcg p.P1248S RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1248 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TAGGGATCCGGCCGGCCTTTC 0.582000 7 1208 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 11 918 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417866 105417866 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr14:105417866C>T ENST00000333244.5 - 7 4041 c.3922G>A c.(3922-3924)Gca>Aca p.A1308T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1308 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCAGCTGTGCGCCATCCAAC 0.597000 6 958 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136310876 136310876 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:136310876G>A ENST00000371929.3 + 21 3111 c.2667G>A c.(2665-2667)acG>acA p.T889T ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 889 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCATCAGGACGGGGGCTCAAG 0.677000 6 277 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3697456 3697456 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:3697456T>C ENST00000324932.7 - 33 5756 c.5336A>G c.(5335-5337)tAt>tGt p.Y1779C NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1796 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GTCCATGGCATAGTCCTCAGG 0.592000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 13 398 0 0 1 0 0 FAM86EP 0 broad.mit.edu 37 4 3944423 3944423 + RNA SNP G G T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:3944423G>T ENST00000313946.8 - 0 1908 GCTGTGGTTGGCTCTGATTTC 0.542000 4 47 1 1 1 1 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 8 233 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:38463709G>A ENST00000373016.3 - 4 595 c.427C>T c.(427-429)Ccc>Tcc p.P143S FHL3_ENST00000485803.1_5'UTR NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 143 LIM zinc-binding 2. muscle organ development zinc ion binding p.P143S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622000 6 655 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124273731 124273731 + Silent SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:124273731C>A ENST00000368984.3 + 9 1427 c.1299C>A c.(1297-1299)gtC>gtA p.V433V NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 433 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) AAAACGACGTCATAATCAGCA 0.493000 21 963 7.07596e-05 7.3922e-05 1 1 0 CELSR1 9620 broad.mit.edu 37 22 46806347 46806347 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:46806347G>A ENST00000262738.3 - 7 4880 c.4881C>T c.(4879-4881)gaC>gaT p.D1627D NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1627 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CATTTTTGCCGTCGACTGACA 0.632000 6 635 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136081795 136081795 + Missense_Mutation SNP A A G rs1132279 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:136081795A>G ENST00000372034.3 - 5 438 c.397T>C c.(397-399)Tct>Cct p.S133P OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity p.S133P(2) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TTGGTATCAGAATTCCTACCT 0.612000 6 291 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 6 786 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154072575 154072575 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:154072575C>T ENST00000368559.3 - 14 1935 c.1864G>A c.(1864-1866)Gca>Aca p.A622T NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 622 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GATTTAGCTGCGATATGTGTA 0.443000 21 550 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:39316759T>C ENST00000390661.3 - 1 224 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 7 484 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45433222 45433222 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:45433222C>T ENST00000321429.4 + 14 1926 c.1519C>T c.(1519-1521)Cgg>Tgg p.R507W DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 507 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) ACAATTTGTGCGGCTACGGGA 0.622000 6 651 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 398 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7679231 7679231 + Silent SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:7679231C>T ENST00000256861.6 - 5 690 c.612G>A c.(610-612)ccG>ccA p.P204P ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 204 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TGTTGTGAAGCGGCAGCACCT 0.647000 24 709 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908384 140908384 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:140908384C>T ENST00000253811.6 - 22 3046 c.2906G>A c.(2905-2907)cGt>cAt p.R969H DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H O60610 DIAP1_HUMAN diaphanous-related formin 1 968 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACTCTTACGTAACTCCTC 0.448000 5 311 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22292036 22292036 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:22292036C>T ENST00000323684.1 + 1 972 c.928C>T c.(928-930)Cgt>Tgt p.R310C NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 310 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TAACTCGGTTCGTAGCCAAGT 0.468000 12 380 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 6 300 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804824 27804824 + Missense_Mutation SNP G G C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:27804824G>C ENST00000408964.2 + 1 5436 c.5385G>C c.(5383-5385)gaG>gaC p.E1795D NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1795 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GTCCCTCTGAGAGAAGCCATC 0.547000 27 831 0 0 1 0 0 STARD3 0 broad.mit.edu 37 17 37819133 37819133 + Missense_Mutation SNP G G A rs35874339 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:37819133G>A ENST00000336308.5 + 15 1528 c.1310G>A c.(1309-1311)cGc>cAc p.R437H STARD3_ENST00000580611.1_Missense_Mutation_p.A419T|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 437 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGCGACAGCGCATCAGCGAG 0.667000 7 705 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582534 179582534 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:179582534C>T ENST00000589042.1 - 87 25291 c.25067G>A c.(25066-25068)cGc>cAc p.R8356H TTN_ENST00000591111.1_Missense_Mutation_p.R8039H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7112H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8039 Ig-like 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGAAGTTTGCGCGCTGTAAA 0.373000 4 156 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63206625 63206625 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:63206625C>T ENST00000449996.3 + 17 1372 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W RGS9_ENST00000262406.9_Missense_Mutation_p.R437W|RGS9_ENST00000443584.3_Missense_Mutation_p.R434W NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 437 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CCCTTTTATGCGGCGTCACCT 0.572000 6 638 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190935 42190935 + Silent SNP G G A rs145571605 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:42190935G>A ENST00000006724.3 - 2 483 c.282C>T c.(280-282)ccC>ccT p.P94P CEACAM7_ENST00000338196.4_Silent_p.P94P|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 94 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CGTTGTGTGCGGGCCCTGGGG 0.443000 7 962 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101576467 101576467 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:101576467G>A ENST00000310954.6 - 11 2117 c.1831C>T c.(1831-1833)Cgg>Tgg p.R611W NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 611 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GCTAGGGACCGTTGTCTGTGA 0.338000 11 630 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94543309 94543309 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:94543309G>A ENST00000370225.3 - 11 1577 c.1491C>T c.(1489-1491)ttC>ttT p.F497F ABCA4_ENST00000535735.1_Silent_p.F497F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 497 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCCTCCAGTCGAAGTTGGCCA 0.537000 18 634 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 17 492 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110458293 110458293 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:110458293T>C ENST00000329608.6 + 3 591 c.200T>C c.(199-201)tTt>tCt p.F67S CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 67 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CAAATTACATTTGAGTTTGTA 0.502000 12 415 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29630479 29630479 + Silent SNP G G A rs145675393 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:29630479G>A ENST00000323874.8 + 16 2699 c.2589G>A c.(2587-2589)gcG>gcA p.A863A PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000373779.3_Silent_p.A863A Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 873 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TGCACCCTGCGGTGCGTGTCG 0.687000 6 426 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46782199 46782199 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:46782199G>A ENST00000529230.1 - 33 4403 c.4357C>T c.(4357-4359)Cgc>Tgc p.R1453C CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1453 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding p.R1453C(1) breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GGTCCCTTGCGTAACATGTTG 0.483000 8 271 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100538 93100538 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:93100538G>A ENST00000544406.2 + 2 397 c.131G>A c.(130-132)cGc>cAc p.R44H C12orf74_ENST00000397833.3_Missense_Mutation_p.R44H Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 44 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 GCCCCAGGCCGCATCTCCACC 0.642000 5 389 0 0 1 0 0 SLC25A22 79751 broad.mit.edu 37 11 792328 792328 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:792328C>T ENST00000320230.5 - 8 1199 c.718G>A c.(718-720)Gct>Act p.A240T SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T NM_001191061.1|NM_024698.5 NP_001177990.1|NP_078974.1 Q9H936 GHC1_HUMAN solute carrier family 25 (mitochondrial carrier: glutamate), member 22 240 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 5 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) ACGGCCACAGCGGCGGCACTC 0.682000 15 672 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 12 581 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 9 40 3.09899e-07 3.27407e-07 1 1 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 4 159 0 0 1 0 0 CXorf56 63932 broad.mit.edu 37 X 118699217 118699217 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:118699217G>A ENST00000371594.4 - 1 180 c.102C>T c.(100-102)tgC>tgT p.C34C CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C|CXorf56_ENST00000486230.1_Silent_p.C34C|CXorf56_ENST00000476164.1_Silent_p.C34C NM_022101.3 NP_071384.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 34 protein binding cervix(1)|endometrium(2)|lung(7) 10 CCATCTGGCCGCACAAACAGT 0.577000 5 579 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541693 55541693 + Silent SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:55541693T>C ENST00000361760.1 + 1 780 c.780T>C c.(778-780)ctT>ctC p.L260L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TCCTTTTCCTTTACTGTGTTC 0.458000 4 325 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21204218 21204218 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:21204218G>A ENST00000342679.4 + 5 561 c.312G>A c.(310-312)caG>caA p.Q104Q MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_Silent_p.Q75Q NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 104 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CACAGGAGCAGAAGCGGCTGC 0.587000 6 441 0 0 1 0 0 RBM15B 29890 broad.mit.edu 37 3 51430415 51430415 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:51430415C>T ENST00000323686.4 + 1 1685 c.1585C>T c.(1585-1587)Cgg>Tgg p.R529W NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 529 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CGACCTGGTGCGGGACAGGAC 0.612000 5 457 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 7 68 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55472007 55472007 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:55472007C>T ENST00000341048.4 - 4 435 c.284G>A c.(283-285)cGc>cAc p.R95H ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 94 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TAAACTTGTGCGGCCATAAGC 0.542000 5 576 0 0 1 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507263 71507263 + Silent SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:71507263A>G ENST00000528685.1 + 3 360 c.360A>G c.(358-360)acA>acG p.T120T FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CTGTCCCTACAGGACTCCAGT 0.627000 7 583 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95484551 95484551 + RNA SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:95484551G>A ENST00000432432.2 - 0 1383 NR_040113.1 CTGAGGATACGTTTTCCCAAT 0.358000 7 427 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75968972 75968972 + Missense_Mutation SNP T T A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:75968972T>A ENST00000308508.5 - 10 5980 c.5888A>T c.(5887-5889)cAg>cTg p.Q1963L CTD-2026K11.1_ENST00000569467.1_RNA NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1963 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GAGCTGCTGCTGGCTCAGTGA 0.672000 18 493 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629467 9629467 + Silent SNP C C T rs140696180 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:9629467C>T ENST00000382492.2 - 1 996 c.678G>A c.(676-678)gcG>gcA p.A226A CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 226 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TAGACAGCAACGCGCTGATGG 0.498000 8 299 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528497 157528497 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:157528497G>A ENST00000346085.5 + 20 6223 c.6222G>A c.(6220-6222)tcG>tcA p.S2074S ARID1B_ENST00000275248.4_Silent_p.S2056S|ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000350026.5_Silent_p.S2061S NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2061 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GACCCAACTCGGTCCTGTCGC 0.532000 40 991 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341591 55341591 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:55341591C>T ENST00000391728.4 + 9 1229 c.1196C>T c.(1195-1197)gCa>gTa p.A399V KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GTGACATACGCACAGTTGGAT 0.517000 9 594 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510281 169510281 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:169510281G>A ENST00000367796.3 - 13 4263 c.4062C>T c.(4060-4062)tcC>tcT p.S1354S F5_ENST00000367797.3_Silent_p.S1349S P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1349 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.S1349S(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CGAGGGCTGGGGAAAGGTTTG 0.517000 7 1246 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 8 254 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 5 456 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855633 79855633 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:79855633T>C ENST00000338682.3 - 5 878 c.206A>G c.(205-207)tAc>tGc p.Y69C NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 69 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CTCTAACAGGTATTTCACCAT 0.448000 20 766 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120175780 120175780 + Silent SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:120175780C>A ENST00000260264.4 + 7 526 c.492C>A c.(490-492)ccC>ccA p.P164P POU2F3_ENST00000543440.2_Silent_p.P162P NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 162 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CTTTAGAACCCCACCTGGAAG 0.542000 6 488 0.217242 0.220784 1 1 0 OR2M5 127059 broad.mit.edu 37 1 248309150 248309150 + Missense_Mutation SNP G G A rs147580819 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:248309150G>A ENST00000366476.1 + 1 701 c.701G>A c.(700-702)cGt>cAt p.R234H NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GGAGAGGGTCGTCGCAAAGCT 0.463000 27 1002 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29630460 29630460 + Missense_Mutation SNP C C T rs146215972 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:29630460C>T ENST00000323874.8 + 16 2680 c.2570C>T c.(2569-2571)aCg>aTg p.T857M PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000373779.3_Missense_Mutation_p.T857M Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 867 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCATACCACACGGGGCAGCTG 0.662000 6 410 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41519413 41519413 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:41519413G>A ENST00000396942.1 - 41 5608 c.5525C>T c.(5524-5526)gCc>gTc p.A1842V RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000396945.1_Intron P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1842 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCTGGGCGGCATCGGCGCT 0.572000 6 400 0 0 1 0 0 PHF15 0 broad.mit.edu 37 5 133895608 133895608 + Missense_Mutation SNP G G T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:133895608G>T ENST00000395003.1 + 5 579 c.400G>T c.(400-402)Ggc>Tgc p.G134C PHF15_ENST00000282605.4_Missense_Mutation_p.G134C|PHF15_ENST00000402835.1_Missense_Mutation_p.G134C|PHF15_ENST00000361895.2_Missense_Mutation_p.G134C NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 134 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGGCCAGGGGGCAGCCGCTA 0.577000 5 228 1 1 1 1 0 CAPN9 10753 broad.mit.edu 37 1 230928629 230928629 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:230928629G>A ENST00000354537.1 + 16 1829 c.1747G>A c.(1747-1749)Ggc>Agc p.G583S RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 609 Domain IV.|EF-hand 2. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TGACAAGTCCGGCACCATGTC 0.512000 28 728 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261762 21261762 + Missense_Mutation SNP G G C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:21261762G>C ENST00000311620.5 + 2 948 c.875G>C c.(874-876)aGa>aCa p.R292T NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 292 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) GATAGCAAGAGAGAGTTTGGT 0.458000 4 154 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320990 79320990 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:79320990G>A ENST00000428286.1 - 8 6323 c.5123C>T c.(5122-5124)gCg>gTg p.A1708V PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2067V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2067 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAAGTCAGGCGCGGCAGAGGC 0.512000 7 628 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:151238835G>A ENST00000368884.3 + 8 895 c.815G>A c.(814-816)cGc>cAc p.R272H PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 272 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAGTTTGGCCGCACTGGGCTT 0.547000 5 522 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914959 46914959 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:46914959T>C ENST00000307522.3 - 1 1882 c.1109A>G c.(1108-1110)gAg>gGg p.E370G NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 370 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) AGCTGGGGCCTCTGCCCTCTG 0.607000 11 1145 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 313 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 5 346 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350369 100350369 + RNA SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:100350369C>T ENST00000542585.1 + 0 2789 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACTCACCATCCCCACGGAAAA 0.502000 5 588 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466059 10466059 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:10466059C>T ENST00000382483.3 - 4 5772 c.5549G>A c.(5548-5550)gGt>gAt p.G1850D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1850 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCCTCTACACCTTCTGACTC 0.642000 9 1412 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111428363 111428363 + Silent SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:111428363A>G ENST00000436913.2 + 5 722 c.321A>G c.(319-321)agA>agG p.R107R LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000375615.3_Silent_p.R260R NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 260 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) GGATCTGTAGAAAAAGGCAAG 0.443000 52 1669 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28792265 28792265 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:28792265C>T ENST00000373839.3 + 5 602 c.341C>T c.(340-342)gCc>gTc p.A114V PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 114 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ATAGGGAATGCCAGATCATCT 0.463000 5 423 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227947156 227947156 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:227947156G>A ENST00000366759.4 + 3 1507 c.1093G>A c.(1093-1095)Gca>Aca p.A365T SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T|SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 365 endomembrane system|membrane|perinuclear region of cytoplasm p.A365T(1) endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTCTTCCCCCGCAGAGAAGAG 0.517000 6 749 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 37 379 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 7 387 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 4 164 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356192 37356192 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr20:37356192G>A ENST00000217420.1 + 2 751 c.488G>A c.(487-489)gGc>gAc p.G163D NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 163 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGCTACACCGGCAAGATCCTC 0.637000 5 401 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176860178 176860178 + Silent SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:176860178T>C ENST00000355472.5 + 6 639 c.471T>C c.(469-471)ccT>ccC p.P157P GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000355958.5_Silent_p.P157P|GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 157 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGTGGCCCCTTTTGCCGACT 0.627000 5 538 0 0 1 0 0 AQPEP 0 broad.mit.edu 37 5 115351411 115351411 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:115351411G>A ENST00000357872.4 + 18 2829 c.2705G>A c.(2704-2706)cGg>cAg p.R902Q AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 902 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GAAGTTGGCCGGTATGTCGCA 0.408000 4 215 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242386 3242386 + Missense_Mutation SNP G G A rs146759954 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:3242386G>A ENST00000217939.6 - 5 1494 c.1340C>T c.(1339-1341)aCg>aTg p.T447M NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 447 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTCTTGGCCGTACTCTGACG 0.488000 10 801 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 7 477 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112641004 112641004 + Missense_Mutation SNP A A T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:112641004A>T ENST00000393104.2 + 4 384 c.24A>T c.(22-24)ttA>ttT p.L8F PDCD4_ENST00000280154.7_Missense_Mutation_p.L19F NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 19 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGATAACTTAAGTGACTCTC 0.308000 6 342 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542283 12542283 + Missense_Mutation SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:12542283A>G ENST00000301547.5 - 4 900 c.703T>C c.(703-705)Tct>Cct p.S235P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 235 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CTGTAAAAAGAAAAGGCTTTA 0.378000 6 739 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 6 597 3.86212e-05 4.0574e-05 1 1 0 CXorf57 55086 broad.mit.edu 37 X 105855530 105855530 + Missense_Mutation SNP G G A rs146201497 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:105855530G>A ENST00000372548.4 + 1 329 c.220G>A c.(220-222)Gtc>Atc p.V74I CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 74 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 TGTGCTGGCCGTCCAGAGGTA 0.567000 6 528 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 758 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429554 12429554 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:12429554C>T ENST00000293725.5 - 4 1490 c.1285G>A c.(1285-1287)Gcg>Acg p.A429T NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGCTTTCCCACAC 0.428000 7 747 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24669202 24669202 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:24669202C>T ENST00000361548.4 + 10 1455 c.1225C>T c.(1225-1227)Cgc>Tgc p.R409C GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409C|GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 409 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GAGGAAGATGCGCGATGACGA 0.602000 6 686 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19488948 19488948 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:19488948G>A ENST00000375267.2 - 35 4925 c.4922C>T c.(4921-4923)gCg>gTg p.A1641V UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1641 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CTCTTCCACCGCCAACTCCTC 0.502000 5 671 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19596091 19596091 + RNA SNP T T A rs146198474 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:19596091T>A ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CAGAGGGTTGTAGGCATAGAA 0.607000 5 420 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 93 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 8 343 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434506 31434506 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:31434506G>A ENST00000389202.2 + 24 2901 c.2852G>A c.(2851-2853)cGa>cAa p.R951Q NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 951 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.R951Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTGAGCATCGATACCGTGTG 0.498000 5 215 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484703 43484703 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:43484703G>A ENST00000395891.1 + 11 2537 c.1932G>A c.(1930-1932)gcG>gcA p.A644A HECW1_ENST00000453890.1_Silent_p.A644A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 644 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCAATGGCGCGGCCCAGGATG 0.711000 6 160 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:24993374C>A ENST00000323848.9 + 13 2012 c.1697C>A c.(1696-1698)cCt>cAt p.P566H SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.P566H(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.542000 6 316 0.000157383 0.0001626 1 1 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 4 171 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64643702 64643702 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:64643702C>T ENST00000371079.1 + 9 2353 c.1978C>T c.(1978-1980)Ccc>Tcc p.P660S ROR1_ENST00000545203.1_Missense_Mutation_p.P111S NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 660 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TCGCTGGATGCCCCCTGAAGC 0.458000 5 426 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 459 0 0 1 0 0 OTP 23440 broad.mit.edu 37 5 76932865 76932865 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:76932865G>A ENST00000306422.3 - 2 1366 c.228C>T c.(226-228)agC>agT p.S76S NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 76 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GGTCTTTGGCGCTCACCGCCA 0.711000 8 260 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17950895 17950895 + Missense_Mutation SNP T T A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:17950895T>A ENST00000361221.3 + 13 1373 c.1214T>A c.(1213-1215)aTg>aAg p.M405K ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.M163K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.M183K|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M405K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Intron NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 405 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TCCAAGTCCATGGTGCTAGAT 0.572000 7 857 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 7 438 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050775 238050775 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:238050775G>A ENST00000366570.4 - 5 798 c.640C>T c.(640-642)Cgc>Tgc p.R214C RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 214 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGGGCCAAGCGCACAGAATCC 0.507000 6 408 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7644311 7644311 + Splice_Site SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:7644311G>A ENST00000572933.1 + 11 3149 c.e11+1 DNAH2_ENST00000570791.1_Splice_Site|DNAH2_ENST00000389173.2_Splice_Site|DNAH2_ENST00000082259.3_Splice_Site Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGTCATGACCGTAAGTGCCTG 0.592000 5 323 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 6 851 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4453441 4453441 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:4453441G>A ENST00000254718.4 - 9 1537 c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 411 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 AACATGGCCCGCAGCCAGGCC 0.597000 6 335 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114185121 114185121 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:114185121G>A ENST00000393081.1 + 18 1926 c.1619G>A c.(1618-1620)cGt>cAt p.R540H ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 540 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ATCATCGACCGTAAAAAGAAC 0.388000 6 302 0 0 1 0 0 NOL12 79159 broad.mit.edu 37 22 38084889 38084889 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:38084889G>A ENST00000359114.4 + 4 341 c.271G>A c.(271-273)Gca>Aca p.A91T NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA NM_024313.2 NP_077289.1 Q9UGY1 NOL12_HUMAN nucleolar protein 12 91 nucleolus rRNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 8 Melanoma(58;0.0574) GTTGGTGACAGCAAAGACGGA 0.642000 6 542 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207105858 207105858 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:207105858G>A ENST00000356495.4 - 8 2134 c.1951C>T c.(1951-1953)Ctg>Ttg p.L651L NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 651 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCACTGCCAGCACCAGGCCC 0.637000 5 398 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414313 20414313 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:20414313G>A ENST00000380338.4 - 5 817 c.531C>T c.(529-531)agC>agT p.S177S MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 177 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 6 317 0 0 1 0 0 HABP4 22927 broad.mit.edu 37 9 99227683 99227683 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:99227683C>T ENST00000375249.4 + 3 652 c.577C>T c.(577-579)Cgc>Tgc p.R193C HABP4_ENST00000375251.3_Intron NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 193 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) AGGGGGTATGCGCGGCAGAGG 0.483000 8 528 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 8 266 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 5 304 0.014758 0.0151634 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 7 432 0 0 1 0 0 H2AFZ 3015 broad.mit.edu 37 4 100870830 100870830 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:100870830G>A ENST00000296417.5 - 2 288 c.71C>T c.(70-72)gCc>gTc p.A24V H2AFZ_ENST00000529158.1_5'UTR NM_002106.3 NP_002097.1 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 24 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(3)|lung(1) 5 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) CTGCAAGCCGGCTCTCTGCGA 0.567000 6 741 0 0 1 0 0 SASS6 163786 broad.mit.edu 37 1 100573235 100573235 + Missense_Mutation SNP T T G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:100573235T>G ENST00000287482.5 - 10 1235 c.1095A>C c.(1093-1095)caA>caC p.Q365H SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H|SASS6_ENST00000462159.1_5'UTR NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 365 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) GCTTTCCTAGTTGTACTTGAT 0.249000 5 128 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911586 88911586 + Silent SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:88911586C>A ENST00000263321.5 + 1 967 c.465C>A c.(463-465)acC>acA p.T155T TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 155 T -> S (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CCATAGGGACCTATGGCCAAA 0.413000 24 627 1.10923e-09 1.17856e-09 1 1 0 TECTA 7007 broad.mit.edu 37 11 121016448 121016448 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:121016448G>A ENST00000392793.1 + 12 3999 c.3728G>A c.(3727-3729)cGc>cAc p.R1243H TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H O75443 TECTA_HUMAN tectorin alpha 1243 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.R1243H(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGTGTGGCCGCTACAACGGC 0.532000 9 390 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 9 834 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46946277 46946277 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:46946277C>T ENST00000429979.1 - 3 938 c.334G>A c.(334-336)Gtt>Att p.V112I KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000409879.2_Intron NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 112 Ser-rich. NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 GCGCTGCCAACGGAGTCTGTG 0.567000 11 311 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119243920 119243920 + Missense_Mutation SNP G G A rs146943763 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:119243920G>A ENST00000260187.2 - 2 565 c.271C>T c.(271-273)Cgg>Tgg p.R91W USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 91 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CTCTCTGCCCGCTTACCACCC 0.652000 6 727 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850345 35850345 + Missense_Mutation SNP C C T rs150489647 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:35850345C>T ENST00000327809.4 + 2 754 c.553C>T c.(553-555)Cgg>Tgg p.R185W FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 185 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTGCCCGTGCGGCTGGAGAT 0.622000 6 363 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 7 532 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887461 9887461 + Missense_Mutation SNP A A C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr18:9887461A>C ENST00000306084.6 + 2 1184 c.985A>C c.(985-987)Atc>Ctc p.I329L TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 329 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGAGGGTGACATCCCCAAGTC 0.592000 8 402 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 10 203 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411250 43411250 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:43411250G>A ENST00000187910.2 - 5 1129 c.1064C>T c.(1063-1065)gCg>gTg p.A355V PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GTTAGAGTCCGCAAAGCAGGA 0.448000 8 1172 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TGTGCACCCCAGGCCCCCTTCCC 0.626 8 62 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:27105930_27105931insG ENST00000324856.7 + 20 5912_5913 c.5541_5542insG c.(5539-5544)ggggggfs p.GG1847fs ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 25 649 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 9 300 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 7 299 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 8 748 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 8 201 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 16 832 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) 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) CTGGCTTGGCTGTGTGTGTGTC 0.515 15 1076 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 9 409 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 8 383 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 8 439 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 6 10 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (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 ATCGCTAATATTTTTTTTTAC 0.418 10 366 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233676006 233676008 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:233676006_233676008delCAG ENST00000373566.3 + 18 2214_2216 c.2017_2019delCAG c.(2017-2019)del p.Q677del GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q677del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q676del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q655del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q649del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q486del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q655del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 655 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ACTGTCTTCCCAGCAGCAGCAGC 0.424 7 404 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:20216050delT ENST00000412997.1 - 6 1324 c.973delA c.(973-975)tgfs p.M325fs SGOL1_ENST00000412868.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000263753.4_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000383774.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 325 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 GATTTGTGCATTTTTTTTTGG 0.318 11 186 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 11 772 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 349 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 9 1958 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 9 273 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 690 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114214679 114214681 + In_Frame_Del DEL CAC CAC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:114214679_114214681delCAC ENST00000357077.4 + 22 2513_2515 c.2460_2462delCAC c.(2458-2463)gtc>gt p.VT820del ANK2_ENST00000264366.6_In_Frame_Del_p.VT820del|ANK2_ENST00000506722.1_In_Frame_Del_p.VT799del|ANK2_ENST00000509550.1_In_Frame_Del_p.VT29del|ANK2_ENST00000394537.3_In_Frame_Del_p.VT820del NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 820 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGAGGAGGTCACCACCACCACC 0.468 9 217 --- --- --- --- PHF17 0 broad.mit.edu 37 4 129783052 129783052 + Frame_Shift_Del DEL C C - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:129783052delC ENST00000226319.6 + 9 1455 c.1175delC c.(1174-1176)tcfs p.S392fs PHF17_ENST00000413543.2_Frame_Shift_Del_p.S392fs|PHF17_ENST00000511647.1_Frame_Shift_Del_p.S392fs|PHF17_ENST00000452328.2_Frame_Shift_Del_p.S380fs|PHF17_ENST00000512960.1_Frame_Shift_Del_p.S392fs NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 392 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CCTGAGTGTTCCCCCCGGAAT 0.597 8 719 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 13 296 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 9 687 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 12 654 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886722 145886723 + Frame_Shift_Ins INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:145886722_145886723insA ENST00000296702.5 + 19 2900_2901 c.2862_2863insA c.(2860-2865)acaaaafs p.TK954fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 954 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCACTTACCAAAAAAAAGAG 0.376 7 469 --- --- --- --- GRIK2 2898 broad.mit.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:102503431_102503432insA ENST00000369138.1 + 15 3028_3029 c.2538_2539insA c.(2536-2541)tcaaaafs p.SK846fs GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 846 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N849fs*12(1)|p.N849fs*14(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATACAAATCCAAAAAAAACGC 0.351 7 498 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 8 855 --- --- --- --- RAET1E 135250 broad.mit.edu 37 6 150209805 150209806 + Splice_Site INS - - AA rs34836659 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:150209805_150209806insAA ENST00000357183.4 - 4 755 c.e4-2 RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Splice_Site|RAET1E_ENST00000532335.1_Intron|RP11-244K5.1_ENST00000605899.1_RNA NM_139165.2 NP_631904.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CTGGTGACACTaaaaaaaaaaa 0.371 12 243 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 10 405 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284925 38284934 + RNA DEL TGTGACTGTG TGTGACTGTG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:38284925_38284934delTGTGACTGTG ENST00000436911.2 - 0 330 tgagtgtgtctgtgactgtgtgtAATTAAA 0.371 7 190 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 8 413 --- --- --- --- AEBP1 165 broad.mit.edu 37 7 44153778 44153780 + In_Frame_Del DEL AGA AGA - rs13928 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:44153778_44153780delAGA ENST00000223357.3 + 21 3700_3702 c.3395_3397delAGA c.(3394-3399)gaa>g p.EK1132del AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1132 Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 gaggaggaggagaaagaggagga 0.552 8 290 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 7 22 --- --- --- --- RSBN1L 222194 broad.mit.edu 37 7 77326220 77326222 + In_Frame_Del DEL CCG CCG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:77326220_77326222delCCG ENST00000334955.7 + 1 461_463 c.434_436delCCG c.(433-438)ccc>c p.PA145del NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 145 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCCTCCTGCCCGCCGCCGCCGC 0.685 7 205 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:87074281_87074282insA ENST00000265723.4 - 10 1126_1127 c.1015_1016insT c.(1015-1017)aatfs p.N339fs ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 339 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.S339fs*3(1) 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) AATTAGGATTGAAAAAAAAACC 0.347 7 123 --- --- --- --- WDR60 55112 broad.mit.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:158704353delA ENST00000407559.3 + 12 1731 c.1573delA c.(1573-1575)aafs p.K526fs NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 526 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAACTTTGGGAAAAAAAATAC 0.328 7 345 --- --- --- --- SCARA3 51435 broad.mit.edu 37 8 27528420 27528420 + Frame_Shift_Del DEL C C - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:27528420delC ENST00000301904.3 + 6 1393 c.1373delC c.(1372-1374)gcfs p.A458fs SCARA3_ENST00000337221.4_Intron NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 458 Collagen-like 1. response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) ACCTCAGGTGCCCCCGGCCCT 0.667 8 889 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 9 268 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 11 768 --- --- --- --- ASPH 444 broad.mit.edu 37 8 62588724 62588726 + In_Frame_Del DEL TTC TTC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:62588724_62588726delTTC ENST00000379449.6 - 5 694_696 c.520_522delGAA c.(520-522)del p.E174del ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379454.4_Intron NM_001164756.1 NP_001158228.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 0 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CGGTTTCGCTTTCTTCTTCTTCT 0.369 7 222 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 7 355 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633025 32633025 + Frame_Shift_Del DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:32633025delT ENST00000242310.4 - 1 2642 c.2553delA c.(2551-2553)aafs p.K851fs NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 851 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAGGAAAGGCTTTTTTTATAT 0.443 7 805 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 7 322 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 9 134 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 7 886 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 13 701 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 8 675 --- --- --- --- CYB5R2 51700 broad.mit.edu 37 11 7689748 7689748 + Frame_Shift_Del DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:7689748delT ENST00000533558.1 - 6 989 c.433delA c.(433-435)cafs p.T145fs CYB5R2_ENST00000524790.1_Frame_Shift_Del_p.T145fs|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299497.9_Frame_Shift_Del_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Del_p.T145fs Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 145 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCGGCCAGTGTTTTTTTAGGC 0.517 7 1116 --- --- --- --- PGA3 643834 broad.mit.edu 37 11 60971045 60971047 + In_Frame_Del DEL GCT GCT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:60971045_60971047delGCT ENST00000325558.6 + 1 194_196 c.9_11delGCT c.(7-12)tgg>tg p.WL3del NM_001079807.1 NP_001073275.1 pepsinogen 3, group I (pepsinogen A) endometrium(1)|lung(1)|ovary(1)|skin(2) 5 CCATGAAGTGGCTGCTGCTGCTG 0.567 7 595 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 11 292 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 9 90 --- --- --- --- ASIC1 41 broad.mit.edu 37 12 50452565 50452567 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:50452565_50452567delGAG ENST00000228468.4 + 2 401_403 c.16_18delGAG c.(16-18)del p.E9del ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 9 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTGAAGGCCGAGGAGGAGGAGG 0.616 9 454 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 7 699 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 7 357 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 10 472 --- --- --- --- CCDC92 80212 broad.mit.edu 37 12 124421800 124421800 + Frame_Shift_Del DEL G G - rs147939560 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:124421800delG ENST00000545135.1 - 3 4046 c.750delC c.(748-750)ccfs p.P250fs CCDC92_ENST00000238156.3_Frame_Shift_Del_p.P267fs|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Frame_Shift_Del_p.P250fs Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 267 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CGGAGGCGATGGGGGGGATGA 0.682 7 426 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 8 288 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 8 195 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 7 265 --- --- --- --- TNFAIP2 7127 broad.mit.edu 37 14 103599784 103599786 + In_Frame_Del DEL AGC AGC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr14:103599784_103599786delAGC ENST00000560869.1 + 10 2270_2272 c.1631_1633delAGC c.(1630-1635)gag>g p.EQ544del TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 544 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) AAGACGGCCGAGCAGCAGCAGCA 0.626 7 395 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 7 58 --- --- --- --- C15orf48 84419 broad.mit.edu 37 15 45724278 45724279 + Frame_Shift_Ins INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:45724278_45724279insA ENST00000344300.3 + 3 321_322 c.131_132insA c.(130-132)caafs p.Q44fs RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.Q44fs NM_032413.3 NP_115789.1 Q9C002 NMES1_HUMAN chromosome 15 open reading frame 48 44 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) AGCCTTGATCGAAAAAAAAATC 0.322 8 154 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 16 572 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 8 52 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 21 1394 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3817721 3817721 + Splice_Site DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:3817721delT ENST00000262367.5 - 16 4059 c.3250_splice c.e16+1 p.I1084_splice CREBBP_ENST00000382070.3_Splice_Site_p.I1046_splice NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1084 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AATGGCCTACTTTTTTTGCGC 0.398 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 10 478 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 12 162 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 8 396 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 16 550 --- --- --- --- ABR 29 broad.mit.edu 37 17 1028559 1028559 + Frame_Shift_Del DEL C C - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:1028559delC ENST00000544583.2 - 2 666 c.67delG c.(67-69)atfs p.D23fs ABR_ENST00000302538.5_Frame_Shift_Del_p.D69fs|ABR_ENST00000574437.1_Frame_Shift_Del_p.D23fs NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 69 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GAGACGCCATCCCCCCCGCCC 0.677 7 615 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 16 548 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 8 833 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 8 192 --- --- --- --- TNFRSF11A 8792 broad.mit.edu 37 18 60025540 60025540 + Frame_Shift_Del DEL T T - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr18:60025540delT ENST00000586569.1 + 5 525 c.487delT c.(487-489)ttfs p.F163fs TNFRSF11A_ENST00000269485.7_Frame_Shift_Del_p.F163fs NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 163 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) CTCTGATGCCTTTTCCTCCAC 0.443 7 766 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 23 909 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr20:24524183_24524185delGGA ENST00000376862.3 + 2 1083_1085 c.450_452delGGA c.(448-453)gtg>gt p.VE150del NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 150 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTACGATGTGGAGGAGGAGGAG 0.547 9 818 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15347257 15347258 + RNA INS - - A rs80199214 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr21:15347257_15347258insA ENST00000344693.5 - 0 736 NR_027270.1 ACCCTGCACAGAAAAAAAGTTG 0.307 7 11 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr21:46951916_46951918delCAG ENST00000311124.4 - 3 486_488 c.334_336delCTG c.(334-336)del p.L112del SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 112 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGAGTGGCCCAGCAGCAGCAGC 0.645 8 149 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 7 904 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 7 272 --- --- --- --- CA5B 11238 broad.mit.edu 37 X 15768189 15768189 + Frame_Shift_Del DEL C C - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:15768189delC ENST00000318636.3 + 2 179 c.43delC c.(43-45)cafs p.P15fs CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs|CA5B_ENST00000380313.1_3'UTR NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 15 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding p.P15A(1) endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) TCAAGCCTCTCCAGGCAAATT 0.468 22 736 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 8 54 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 12 1877 --- --- --- ---