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 PLXNA4 91584 broad.mit.edu 37 7 131844259 131844259 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:131844259G>A ENST00000359827.3 - 25 5595 c.4633C>T c.(4633-4635)Cgg>Tgg p.R1545W PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W Q9HCM2 PLXA4_HUMAN plexin A4 1545 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTTTGGGCCGGTGGGAGCAA 0.557000 7 863 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 339 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69082833 69082833 + Splice_Site SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr12:69082833C>T ENST00000229179.4 + 2 432 c.100_splice c.e2+1 p.L34_splice NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 34 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AAGAGTTTTACGTATCCTTTG 0.378000 9 170 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91454724 91454724 + Missense_Mutation SNP G G A rs146632780 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:91454724G>A ENST00000360468.3 + 13 2071 c.2053G>A c.(2053-2055)Gtg>Atg p.V685M MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V685M NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 685 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GCCCCTGGCCGTGCAGATCAG 0.647000 4 233 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|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 13 288 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36930968 36930968 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:36930968G>A ENST00000373674.3 + 5 1178 c.850G>A c.(850-852)Gta>Ata p.V284I PI16_ENST00000491324.1_Intron NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 284 extracellular region|integral to membrane peptidase inhibitor activity p.V284I(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCACCTTGCGTAACAACTGA 0.567000 23 286 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84652654 84652654 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:84652654G>A ENST00000393868.2 - 8 1109 c.899C>T c.(898-900)gCc>gTc p.A300V SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 300 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) AATTGCCCCGGCATGACCCAT 0.473000 5 629 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28518096 28518096 + Missense_Mutation SNP G G C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:28518096G>C ENST00000261609.7 - 8 963 c.855C>G c.(853-855)gaC>gaG p.D285E NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 285 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCAAGTGCTGGTCCTGCAGGG 0.612000 5 221 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852910 15852910 + Silent SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:15852910G>A ENST00000305892.1 + 1 708 c.708G>A c.(706-708)cgG>cgA p.R236R NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTGAGGGCCGGCACAAGACTT 0.502000 5 681 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 5 246 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142641797 142641797 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:142641797G>A ENST00000355265.2 - 12 1820 c.1346C>T c.(1345-1347)gCc>gTc p.A449V NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 449 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AGTGATGAGGGCATCCCGGAT 0.617000 4 195 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 8 823 0 0 1 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598726 144598726 + RNA SNP A A C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:144598726A>C ENST00000419820.1 + 0 654 CATTCGGTGCACCAAGAGCAA 0.572000 15 91 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 633162 633162 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:633162G>A ENST00000026218.5 + 10 1899 c.1811G>A c.(1810-1812)gGc>gAc p.G604D PIGQ_ENST00000321878.5_3'UTR NM_148920.2 NP_683721.1 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 604 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CCTGAACACGGCAGGCCCTGC 0.642000 5 652 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53555118 53555118 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr8:53555118C>T ENST00000025008.5 - 18 4653 c.4130G>A c.(4129-4131)cGt>cAt p.R1377H RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1377 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CTCAAGCAAACGAGCTCGATC 0.358000 16 343 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 5 271 0 0 1 0 0 RPS12 6206 broad.mit.edu 37 6 133138134 133138134 + Silent SNP C C G rs146638149 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:133138134C>G ENST00000230050.3 + 5 480 c.270C>G c.(268-270)ggC>ggG p.G90G NM_001016.3 NP_001007.2 P25398 RS12_HUMAN ribosomal protein S12 90 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(13)|lung(3)|urinary_tract(1) 18 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) AATGGGTAGGCCTTTGTAAAA 0.358000 5 259 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 5 453 0 0 1 0 0 UGT1A3 0 broad.mit.edu 37 2 234638622 234638622 + Missense_Mutation SNP A A G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:234638622A>G ENST00000482026.1 + 1 869 c.850A>G c.(850-852)Agg>Ggg p.R284G UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTGTGCCAACAGGAAGCCACT 0.438000 18 651 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 18 105 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120769305 120769305 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:120769305C>T ENST00000527524.2 + 12 1516 c.1229C>T c.(1228-1230)tCg>tTg p.S410L GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 410 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCCAACATCTCGGACACTCTC 0.612000 7 139 0 0 1 0 0 PVALB 5816 broad.mit.edu 37 22 37209707 37209707 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr22:37209707C>T ENST00000216200.5 - 4 342 c.287G>A c.(286-288)gGc>gAc p.G96D PVALB_ENST00000404171.1_Missense_Mutation_p.G64D|PVALB_ENST00000417718.2_Missense_Mutation_p.G96D NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 96 EF-hand 2. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 CCCAATTTTGCCGTCCCCATC 0.512000 8 954 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 6 503 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T T C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:22940373T>C ENST00000397104.3 - 5 2064 c.2065A>G c.(2065-2067)Aag>Gag p.K689E ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E zinc finger protein 99 p.K689E(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343000 5 339 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82421570 82421570 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:82421570G>A ENST00000370728.1 + 13 2476 c.1831G>A c.(1831-1833)Gac>Aac p.D611N LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N O95490 LPHN2_HUMAN latrophilin 2 611 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGCAATTGTTGACACAGTGGA 0.358000 20 320 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35660888 35660888 + Silent SNP G G A rs148445726 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr22:35660888G>A ENST00000216106.5 + 5 635 c.507G>A c.(505-507)tcG>tcA p.S169S HMGXB4_ENST00000444518.2_Silent_p.S60S NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 169 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCACAAATCGAAAAAAATGA 0.463000 16 412 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998573 72998573 + Missense_Mutation SNP A A G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr18:72998573A>G ENST00000322038.5 + 2 1660 c.1076A>G c.(1075-1077)tAc>tGc p.Y359C TSHZ1_ENST00000580243.1_Missense_Mutation_p.Y404C NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 404 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGCGCCAGCTACACCTGGCAG 0.612000 4 197 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519935 49519935 + Missense_Mutation SNP C C T rs146354951 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:49519935C>T ENST00000221421.2 - 2 51 c.52G>A c.(52-54)Gca>Aca p.A18T NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 18 A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775). cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity p.A18T(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) GATGCCCATGCCCCGCCCATG 0.647000 5 340 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10671101 10671101 + Silent SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:10671101G>A ENST00000312962.6 - 9 724 c.705C>T c.(703-705)aaC>aaT p.N235N KRI1_ENST00000361821.5_Silent_p.N231N NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 235 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) ACTCAGGGTCGTTCCAGTATT 0.552000 39 488 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74968164 74968164 + Missense_Mutation SNP G G A rs138556118 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr14:74968164G>A ENST00000261978.4 - 35 5686 c.5300C>T c.(5299-5301)gCg>gTg p.A1767V LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1767 EGF-like 19; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CATGTGGGCCGCATCCAGCTG 0.617000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 570 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32754256 32754256 + Silent SNP G G A rs61729170 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr22:32754256G>A ENST00000249007.4 + 1 403 c.198G>A c.(196-198)tcG>tcA p.S66S RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 66 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GCATCAATTCGCTGCAGAAGG 0.537000 5 477 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1415695 1415695 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:1415695G>A ENST00000446702.2 + 16 2660 c.2033G>A c.(2032-2034)gGc>gAc p.G678D CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D|CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D Q9UQ52 CNTN6_HUMAN contactin 6 678 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.G678D(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTTGTTGCCGGCAACAGCATT 0.383000 5 383 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47195677 47195677 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:47195677G>A ENST00000320640.6 - 16 1873 c.1645C>T c.(1645-1647)Cac>Tac p.H549Y ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 549 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) GGGACATTGTGAGGGTATGGA 0.373000 24 429 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295522 62295522 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:62295522C>T ENST00000378024.4 - 5 6641 c.6367G>A c.(6367-6369)Gac>Aac p.D2123N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2123 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAGTGTAAGTCCACATCAGGC 0.522000 7 1326 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 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.C432C(6) 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) GAACATCCTGCGCCCAGCGGG 0.582000 6 357 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166318 161166318 + Missense_Mutation SNP A A T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:161166318A>T ENST00000367995.3 - 2 1411 c.986T>A c.(985-987)aTg>aAg p.M329K ADAMTS4_ENST00000367996.4_Intron O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 0 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) tgtgcagtgcatggcctgcGG 0.562000 19 313 0 0 1 0 0 DOLK 22845 broad.mit.edu 37 9 131708515 131708515 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr9:131708515C>T ENST00000372586.3 - 1 1383 c.1068G>A c.(1066-1068)cgG>cgA p.R356R RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 356 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 AGAGCAGTGGCCGGTCAAAGA 0.547000 7 714 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 4 68 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66479413 66479413 + Silent SNP T T C rs145686658 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:66479413T>C ENST00000359626.5 + 5 599 c.435T>C c.(433-435)acT>acC p.T145T NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 145 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.T145T(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) GCCTACCAACTGAAAGTGCAG 0.428000 6 607 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187725 57187725 + Missense_Mutation SNP G G T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:57187725G>T ENST00000331162.4 - 5 1667 c.1397C>A c.(1396-1398)aCa>aAa p.T466K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATGTGTAGGGTCT 0.428000 5 551 0.0381472 0.0387041 1 1 0 ZNF781 163115 broad.mit.edu 37 19 38160168 38160168 + Missense_Mutation SNP C C A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:38160168C>A ENST00000358582.4 - 4 1630 c.882G>T c.(880-882)ttG>ttT p.L294F ZNF781_ENST00000590008.1_Missense_Mutation_p.L294F|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 GGACAGGAGACAAAAACCTTC 0.383000 25 421 9.57634e-11 1.03993e-10 1 1 0 AQP9 366 broad.mit.edu 37 15 58471472 58471472 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:58471472C>T ENST00000219919.4 + 5 1011 c.641C>T c.(640-642)gCc>gTc p.A214V AQP9_ENST00000536493.1_Missense_Mutation_p.A214V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.A149V NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 214 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) AGTGGCTGTGCCATGAACCCA 0.557000 4 206 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49248495 49248495 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:49248495G>A ENST00000332955.2 - 3 833 c.286C>T c.(286-288)Cgc>Tgc p.R96C NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 96 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TCTGTGATGCGTTTCAGATCC 0.507000 13 283 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 7 648 0 0 1 0 0 TP53I13 90313 broad.mit.edu 37 17 27898646 27898646 + Missense_Mutation SNP A A T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:27898646A>T ENST00000301057.7 + 4 336 c.221A>T c.(220-222)cAt>cTt p.H74L RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 74 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) CCCTGTGCCCATCCCTGGCTG 0.577000 9 277 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98349783 98349783 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:98349783G>A ENST00000264972.5 + 7 1029 c.814G>A c.(814-816)Gcc>Acc p.A272T ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 272 Interdomain B. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CACACTCCCAGCCCACCCATC 0.706000 9 113 0 0 1 0 0 LDB1 8861 broad.mit.edu 37 10 103868035 103868035 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr10:103868035C>T ENST00000361198.5 - 11 1566 c.943G>A c.(943-945)Ggg>Agg p.G315R LDB1_ENST00000425280.1_Missense_Mutation_p.G351R NM_003893.4 NP_003884.1 Q86U70 LDB1_HUMAN LIM domain binding 1 351 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) TCCTCGTCCCCGAACTCCCCG 0.632000 9 215 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-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 11 108 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 6 300 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105412405 105412405 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr4:105412405C>T ENST00000394767.2 - 2 1005 c.555G>A c.(553-555)ccG>ccA p.P185P CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Silent_p.P16P NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 16 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) ACGGCTCTGGCGGGCAGCCAG 0.627000 6 886 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 5004223 5004223 + Missense_Mutation SNP C C G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:5004223C>G ENST00000380051.2 - 1 58 c.14G>C c.(13-15)cGc>cCc p.R5P RPP40_ENST00000319533.5_Missense_Mutation_p.R5P NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 5 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) CCGAAGCCGGCGCAGCGTGGC 0.697000 OREG0017160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 213 0 0 1 0 0 SNRPE 6635 broad.mit.edu 37 1 203831342 203831342 + Missense_Mutation SNP T T A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:203831342T>A ENST00000414487.2 + 2 118 c.73T>A c.(73-75)Tta>Ata p.L25I SNRPE_ENST00000483099.1_3'UTR NM_003094.2 NP_003085.1 P62304 RUXE_HUMAN small nuclear ribonucleoprotein polypeptide E 25 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding breast(1)|large_intestine(2)|lung(1)|skin(1) 5 all_cancers(21;0.103) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTCAGATACTTACAAAATGT 0.403000 13 358 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117307881 117307881 + Silent SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:117307881G>A ENST00000321322.6 - 26 4858 c.4857C>T c.(4855-4857)tgC>tgT p.C1619C DSCAML1_ENST00000527706.1_Silent_p.C1349C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1559 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.C1619C(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TTTCATTGCCGCAGCCCGCAC 0.632000 6 399 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 10 940 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 7 73 0 0 1 0 0 AZGP1 563 broad.mit.edu 37 7 99565782 99565782 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:99565782C>T ENST00000411734.1 - 3 605 c.600G>A c.(598-600)cgG>cgA p.R200R AZGP1_ENST00000292401.4_Silent_p.R203R P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 203 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GAGTACCTTGCCGGTCCAGGA 0.532000 5 279 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4163864 4163864 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:4163864C>T ENST00000294016.3 - 2 2118 c.1580G>A c.(1579-1581)gGc>gAc p.G527D NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 527 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTGAACTTTGCCGGCCACTCC 0.522000 5 536 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112324383 112324383 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:112324383G>A ENST00000206423.3 - 8 3687 c.2734C>T c.(2734-2736)Cgc>Tgc p.R912C CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 912 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCTGGGCAGCGCATCCCCAGT 0.473000 5 279 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135614834 135614834 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr8:135614834C>T ENST00000520727.1 - 7 1391 c.1092G>A c.(1090-1092)gcG>gcA p.A364A ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTGGGTCATGCGCGTCTCGGA 0.552000 5 381 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228564115 228564115 + Missense_Mutation SNP T T C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:228564115T>C ENST00000258403.3 - 3 387 c.316A>G c.(316-318)Atg>Gtg p.M106V SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 106 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.M106V(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ACAACCTGCATGGTCTTCACT 0.527000 7 597 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 6 64 0.00307968 0.00314761 1 1 0 IRF2 3660 broad.mit.edu 37 4 185329365 185329365 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr4:185329365G>A ENST00000393593.3 - 6 683 c.476C>T c.(475-477)gCg>gTg p.A159V IRF2_ENST00000512020.1_5'UTR NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 159 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) AGTCAGGACCGCATACTCAGG 0.393000 5 462 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30521098 30521098 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:30521098G>A ENST00000358365.3 + 11 1068 c.841G>A c.(841-843)Gat>Aat p.D281N RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000333942.6_Missense_Mutation_p.D281N NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 281 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) TGATGACCTGGATTTGACACC 0.363000 21 1707 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480147 73480147 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr8:73480147C>T ENST00000523207.1 + 2 766 c.178C>T c.(178-180)Cgc>Tgc p.R60C NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 60 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCCCAGGACGCGCCTGGGGAA 0.542000 21 371 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296158 39296158 + Silent SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:39296158G>A ENST00000345847.4 - 1 581 c.582C>T c.(580-582)tgC>tgT p.C194C NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 190 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGGGACGGGGGCAGGTGGAAA 0.612000 5 38 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606468 21606468 + Missense_Mutation SNP C C T rs142651314 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:21606468C>T ENST00000392288.2 + 4 1116 c.1007C>T c.(1006-1008)cCt>cTt p.P336L ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTCTCAACCCCTACTAAACAT 0.348000 7 446 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13140072 13140072 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr9:13140072G>A ENST00000319217.7 - 28 4164 c.3917C>T c.(3916-3918)gCc>gTc p.A1306V MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000540202.1_5'UTR NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1306 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ACCCATTTCGGCAAAGGCTGA 0.493000 6 598 0 0 1 0 0 MYL3 4634 broad.mit.edu 37 3 46904790 46904790 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:46904790G>A ENST00000395869.1 - 1 142 c.91C>T c.(91-93)Cgc>Tgc p.R31C MYL3_ENST00000292327.4_Missense_Mutation_p.R31C P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 31 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) TCCTTAGGGCGCTCAGGCTCA 0.602000 5 443 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 7 366 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 5 452 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 97 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125871630 125871630 + Silent SNP G G C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:125871630G>C ENST00000392693.3 - 11 2269 c.2142C>G c.(2140-2142)tcC>tcG p.S714S CDON_ENST00000263577.7_Silent_p.S714S|CDON_ENST00000531738.1_Silent_p.S91S NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 714 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGTGCCTAGAGGAATCTGTAA 0.433000 17 342 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 5 413 1.06961e-07 1.13493e-07 1 1 0 SFMBT1 51460 broad.mit.edu 37 3 52940182 52940182 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:52940182G>A ENST00000394752.3 - 20 2789 c.2407C>T c.(2407-2409)Cgg>Tgg p.R803W SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 803 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGATGAACCGCACAACGTCT 0.418000 5 337 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31793127 31793127 + Silent SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:31793127G>A ENST00000396193.1 - 19 2774 c.2181C>T c.(2179-2181)taC>taT p.Y727Y PDE1C_ENST00000321453.7_Silent_p.Y667Y|PDE1C_ENST00000396191.1_Silent_p.Y667Y NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 667 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AGCTAGATGCGTAAGCAGGGC 0.478000 5 374 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282688 152282688 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:152282688C>T ENST00000368799.1 - 3 4709 c.4674G>A c.(4672-4674)ggG>ggA p.G1558G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1558 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTGACGTGACCCTGAGTGCC 0.592000 Ichthyosis 59 1262 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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) 19 308 0 0 1 0 0 CCNG1 900 broad.mit.edu 37 5 162868135 162868135 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr5:162868135G>A ENST00000340828.2 + 3 540 c.316G>A c.(316-318)Gta>Ata p.V106I CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I|AC112205.1_ENST00000599797.1_Intron NM_004060.3 NP_004051.1 P51959 CCNG1_HUMAN cyclin G1 106 cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) TTATTTGGCTGTAAAATCAAT 0.393000 6 391 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86311613 86311613 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:86311613C>T ENST00000337975.5 - 2 1703 c.1429G>A c.(1429-1431)Gag>Aag p.E477K KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 477 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 TGGGGGCACTCGGCCTTGATC 0.612000 23 475 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 8 207 0 0 1 0 0 JAM2 58494 broad.mit.edu 37 21 27066110 27066110 + Missense_Mutation SNP G G T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr21:27066110G>T ENST00000480456.1 + 4 834 c.284G>T c.(283-285)cGg>cTg p.R95L JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 95 Ig-like V-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 TTCAATATCCGGATCAAAAAT 0.378000 9 230 1.58986e-06 1.64919e-06 1 1 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 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 TACATTCATACGGGTTCTCTC 0.403000 5 390 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909720 32909720 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:32909720C>T ENST00000304056.4 - 4 1808 c.1109G>A c.(1108-1110)cGc>cAc p.R370H AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 370 p.R370H(2) endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TGGCTTTATGCGGACAAAAAG 0.428000 5 517 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 16 186 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 10 169 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 5 267 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48604703 48604703 + Missense_Mutation SNP T T G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr18:48604703T>G ENST00000342988.3 + 12 2063 c.1525T>G c.(1525-1527)Tgg>Ggg p.W509G SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G|SMAD4_ENST00000586253.1_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 509 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTGAAAGGCTGGGGACCGGA 0.473000 20 253 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-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 5 419 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 9 256 3.09899e-07 3.26333e-07 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40395919 40395919 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:40395919G>A ENST00000221347.6 - 15 7485 c.7478C>T c.(7477-7479)gCc>gTc p.A2493V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2493 VWFD 6. extracellular region protein binding p.A2493V(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCAGGACGGCAAACCGATG 0.627000 6 552 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115217379 115217379 + Missense_Mutation SNP T T A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:115217379T>A ENST00000369538.3 - 12 1928 c.1881A>T c.(1879-1881)ttA>ttT p.L627F AMPD1_ENST00000520113.2_Missense_Mutation_p.L631F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 598 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.L598F(2)|p.L631F(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCACCTTTTTTAAATTTAGGC 0.418000 10 309 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21795227 21795227 + Silent SNP T T A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:21795227T>A ENST00000318220.6 + 6 1060 c.12T>A c.(10-12)tcT>tcA p.S4S NBPF3_ENST00000318249.5_Silent_p.S60S|NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000454000.2_Intron Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 60 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGGTGGTATCTGCCGGCCCTT 0.512000 OREG0013205 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 703 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161753 90161753 + RNA SNP T T C rs6500470 by1000genomes TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:90161753T>C ENST00000567960.1 + 0 489 TUBB8P7_ENST00000564451.1_RNA CAGACAGGATTATAAACACAT 0.562000 6 294 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 556535 556535 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:556535C>T ENST00000437048.2 - 7 750 c.604G>A c.(604-606)Gaa>Aaa p.E202K VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E173K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.E202K NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 202 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GTTTACCTTTCGGAAAGCTGC 0.483000 5 859 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 5 265 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227663 39227663 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:39227663C>T ENST00000340369.3 - 2 3502 c.3274G>A c.(3274-3276)Ggt>Agt p.G1092S XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1092 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TTCCGAAGACCGTCCTGGATG 0.602000 14 331 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496126 76496126 + Missense_Mutation SNP G G A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:76496126G>A ENST00000388942.3 + 11 1342 c.1066G>A c.(1066-1068)Gca>Aca p.A356T NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 356 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CACCACGGCCGCAATAGACAT 0.602000 6 568 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58773981 58773981 + Nonsense_Mutation SNP C C G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:58773981C>G ENST00000269829.4 + 7 2483 c.2009C>G c.(2008-2010)tCa>tGa p.S670* ZNF544_ENST00000596652.1_Nonsense_Mutation_p.S670*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642* NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AAAGCCTTTTCAGGGAGCTCT 0.453000 10 692 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7137472 7137472 + Missense_Mutation SNP C C T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:7137472C>T ENST00000005340.5 - 1 392 c.110G>A c.(109-111)cGc>cAc p.R37H DVL2_ENST00000575458.1_Missense_Mutation_p.R37H NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 37 DIX. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 GAGGGTGATGCGCTCGGCGGG 0.602000 6 802 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 277 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 8 241 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) 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) TCGCTCTCCGTCCCCCCCACTG 0.515 11 762 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 7 899 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 15 309 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 7 464 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 22 70 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 11 577 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 8 974 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 8 411 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 12 449 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 8 824 --- --- --- --- GORASP2 26003 broad.mit.edu 37 2 171822424 171822424 + Frame_Shift_Del DEL A A - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:171822424delA ENST00000234160.4 + 10 1958 c.1143delA c.(1141-1143)ggfs p.G381fs GORASP2_ENST00000452526.2_Frame_Shift_Del_p.G393fs NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 381 Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CAAGCTCAGGAGAGCTGCTGT 0.602 13 328 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 7 57 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 8 482 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 10 498 --- --- --- --- LINC00698 0 broad.mit.edu 37 3 63083094 63083096 + RNA DEL CTG CTG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:63083094_63083096delCTG ENST00000468072.1 + 0 125 NR_027104.1 TCCGAGCCGTCTGCTGCTGCTGC 0.562 7 568 --- --- --- --- OR5H1 26341 broad.mit.edu 37 3 97851842 97851842 + Frame_Shift_Del DEL T T - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:97851842delT ENST00000354565.2 + 1 301 c.301delT c.(301-303)ttfs p.F102fs RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CAAGATACAGTTTTTTTCGTT 0.393 8 1260 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 7 616 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 13 77 --- --- --- --- MCF2L2 23101 broad.mit.edu 37 3 182897467 182897467 + Frame_Shift_Del DEL A A - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr3:182897467delA ENST00000328913.3 - 29 3416 c.3119delT c.(3118-3120)tcfs p.F1040fs MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.F1040fs NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1040 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTCCGACTGGAAAAGGCCCGC 0.597 7 641 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 10 95 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 14 37 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 8 197 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 11 869 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 11 905 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 9 410 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 9 246 --- --- --- --- RNF5 6048 broad.mit.edu 37 6 32148080 32148080 + Frame_Shift_Del DEL T T - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:32148080delT ENST00000375094.3 + 6 678 c.520delT c.(520-522)ttfs p.F175fs RNF5_ENST00000427134.2_Intron NM_006913.3 NP_008844.1 Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 175 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|lung(7)|urinary_tract(2) 10 CATCTTCTTCTTTTTTTGGCT 0.537 7 597 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 7 401 --- --- --- --- SLC26A8 116369 broad.mit.edu 37 6 35912065 35912065 + Frame_Shift_Del DEL T T - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:35912065delT ENST00000490799.1 - 20 2878 c.2525delA c.(2524-2526)atfs p.N842fs SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 842 Interaction with RACGAP1. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TGGACTTACATTTTTTTGGCT 0.398 8 404 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 7 469 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45296445 45296446 + Frame_Shift_Ins INS - - A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:45296445_45296446insA ENST00000352853.5 + 2 186_187 c.186_187insA c.(184-189)ctaaaafs p.LK62fs RUNX2_ENST00000465038.2_5'UTR|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000371438.1_5'UTR|SUPT3H_ENST00000459689.1_Intron Q13950 RUNX2_HUMAN runt-related transcription factor 2 0 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 AGTTCTATCTGAAAAAAAAAGG 0.386 8 354 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 9 663 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 9 461 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144769847 144769849 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:144769847_144769849delCCT ENST00000367545.3 + 16 2014_2016 c.2014_2016delCCT c.(2014-2016)del p.P677del NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 677 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.P672H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCAGGAACTGCCTCCTCCTCCTC 0.409 8 375 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 9 655 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11871469 11871470 + In_Frame_Ins INS - - GCAGCG TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:11871469_11871470insGCAGCG ENST00000423059.3 - 1 354_355 c.103_104insCGCTGC c.(103-105)cct>CGCTGCcct p.34_35insRC NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 34 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) cagcagcaggagcagcggcagc 0.772 HNSCC(18;0.044) 7 78 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 7 422 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 7 444 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 9 306 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728932 37728933 + Frame_Shift_Ins INS - - T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr8:37728932_37728933insT ENST00000330843.4 - 4 3399_3400 c.3387_3388insA c.(3385-3390)aaccacfs p.NH1129fs RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCTGCTGTGGCTTTTTTTTGAG 0.545 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 776 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39149853 39149853 + Frame_Shift_Del DEL C C - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr9:39149853delC ENST00000297668.6 - 10 1672 c.1599delG c.(1597-1599)gcfs p.A533fs CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 533 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTCCCCAGCGCCCCCTGCT 0.542 7 72 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 14 61 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 11 304 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Stop_Codon_Del NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 153 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTGTGGCTAAAAAAAATAA 0.254 7 249 --- --- --- --- TBC1D10C 374403 broad.mit.edu 37 11 67177148 67177149 + Frame_Shift_Ins INS - - G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:67177148_67177149insG ENST00000312390.5 + 10 1293_1294 c.1264_1265insG c.(1264-1266)ggcfs p.G422fs TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G422fs NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 422 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCTCCTGACTCGGGCCCGGGGC 0.698 9 99 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 9 236 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 12 750 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 8 184 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 11 324 --- --- --- --- CATSPERB 79820 broad.mit.edu 37 14 92126248 92126249 + Frame_Shift_Del DEL AA AA - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr14:92126248_92126249delAA ENST00000256343.3 - 15 1520_1521 c.1364_1365delTT c.(1363-1365)tfs p.F455fs NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 455 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AAAAACTATGAAAAGTCTTCTT 0.337 8 578 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 114 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003383 42003385 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:42003383_42003385delCAG ENST00000219905.7 + 8 3101_3103 c.2920_2922delCAG c.(2920-2922)del p.Q981del MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 981 Gln-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCGGCAGGCACAGCAGCAGCAGC 0.458 7 369 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 7 104 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 10 322 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 9 309 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 9 75 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 11 325 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 9 454 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7750177 7750178 + In_Frame_Ins INS - - ACCACC rs61462443 TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:7750177_7750178insACCACC ENST00000254846.5 + 9 1141_1142 c.752_753insACCACC c.(751-753)tcc>tACCACCcc p.251_251S>YHP KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YHP NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 251 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ccaccaccattaccaccaccac 0.614 10 88 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44117226 44117239 + Frame_Shift_Del DEL TGGAAATGCAGGCT TGGAAATGCAGGCT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:44117226_44117239delTGGAAATGCAGGCT ENST00000262419.6 - 8 2502_2515 c.2032_2045delAGCCTGCATTTCCA c.(2032-2046)gfs p.SLHFQ678fs KANSL1_ENST00000393476.3_Frame_Shift_Del_p.SLHFQ35fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.SLHFQ678fs NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 678 MLL1 complex protein binding CAGCATGCTCTGGAAATGCAGGCTTGTGGGAACA 0.463 15 727 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 87 --- --- --- --- ZACN 353174 broad.mit.edu 37 17 74077980 74077982 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr17:74077980_74077982delCTG ENST00000334586.5 + 8 981_983 c.898_900delCTG c.(898-900)del p.L304del EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 304 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 CTTCACCATCCTGCTGCTGCTGC 0.655 8 451 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 7 224 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 146 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 7 991 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 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 11 514 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 12 576 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 11 444 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 7 924 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815035 55815036 + Splice_Site INS - - C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr19:55815035_55815036insC ENST00000309383.1 + 12 1404_1405 c.1126_splice c.e12-1 p.A376_splice BRSK1_ENST00000326848.7_Splice_Site_p.A71_splice|BRSK1_ENST00000590333.1_Splice_Site_p.A392_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TGTCCCTCAGACCCCCCCCGGA 0.579 10 381 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 13 313 --- --- --- --- CST1 1469 broad.mit.edu 37 20 23729754 23729754 + Frame_Shift_Del DEL C C - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr20:23729754delC ENST00000304749.2 - 2 311 c.241delG c.(241-243)tgfs p.V81fs CST1_ENST00000398402.1_Frame_Shift_Del_p.V81fs NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 81 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) AAGTAATTCACCCCCCCAACG 0.552 7 751 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 9 37 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 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 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) AATCCCAGAGCCTCCTCTCCCAA 0.596 11 877 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 12 422 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 472 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688565 153688565 + Frame_Shift_Del DEL G G - TCGA-IB-AAUM-01A-11D-A377-08 TCGA-IB-AAUM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b61630e4-5b3e-455b-b6df-ca8b76a678cd 3323a86b-52b7-46b7-aa03-cdfd4a3bb710 g.chrX:153688565delG ENST00000369682.3 + 2 217 c.42delG c.(40-42)gtfs p.V14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCTTGCCGTGGGGGGGGCCC 0.682 9 274 --- --- --- ---