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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CUL1 8454 broad.mit.edu 37 7 148457565 148457566 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:148457565_148457566CC>AA uc010lpg.3 + 6 1292_1293 c.766_767CC>AA c.(766-768)cca>AAa p.P256K CUL1_uc003wey.3_Missense_Mutation_p.P256K|CUL1_uc003wez.3_Missense_Mutation_p.P146K NM_003592 NP_003583 Q13616 CUL1_HUMAN Homo sapiens cullin 1 (CUL1), mRNA. 256 G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination SCF ubiquitin ligase complex|cytosol|nucleoplasm ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCAGCAGAACCCAGTTACTGAA 0.332000 250 10 0 0 6.4e-05 0 0 ST18 9705 broad.mit.edu 37 8 53084780 53084780 + Missense_Mutation SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr8:53084780T>C uc003xqz.2 - 4 797 c.641A>G c.(640-642)aAa>aGa p.K214R ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.K179R|ST18_uc011lds.1_Missense_Mutation_p.K119R|ST18_uc003xra.2_Missense_Mutation_p.K214R|ST18_uc003xrb.2_Missense_Mutation_p.K214R NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 214 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCTAGGTGGTTTGGTTTCTTC 0.408000 42 6 0 0 3.59834e-05 0 0 AQP12A 375318 broad.mit.edu 37 2 241631380 241631380 + Missense_Mutation SNP T A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:241631380T>A uc002vzu.3 + 0 119 c.50T>A c.(49-51)cTc>cAc p.L17H AQP12A_uc002vzv.3_Intron NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN Homo sapiens aquaporin 12A (AQP12A), mRNA. 17 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) ACCTTCGCCCTCTGTGAGGCG 0.687000 33 6 0 0 8.12818e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92532703 92532704 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:92532703_92532704CC>AA uc001pdj.4 + 8 6541_6542 c.6524_6525CC>AA c.(6523-6525)ccc>cAA p.P2175Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2175 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGGAGCTTCCCATCACTATTG 0.431000 TCGA Ovarian(4;0.039) 460 10 0 0 6.4e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92086445 92086446 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:92086445_92086446CC>AA uc001pdj.4 + 0 1184_1185 c.1167_1168CC>AA c.(1165-1170)tcccct>tcAAct p.P390T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 390 Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGAATTTTCCCCTCCTGGTGT 0.401000 TCGA Ovarian(4;0.039) 387 12 0 0 6.4e-05 0 0 NRCAM 4897 broad.mit.edu 37 7 107823349 107823349 + Missense_Mutation SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:107823349C>T uc022aka.1 - 19 2426 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K NRCAM_uc011kmk.2_Missense_Mutation_p.E774K|NRCAM_uc003vfd.3_Missense_Mutation_p.E755K|NRCAM_uc003vfe.3_Missense_Mutation_p.E755K|NRCAM_uc003vfc.3_Missense_Mutation_p.E758K NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA. 774 Fibronectin type-III 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CCATTAGATTCGAAACCATTC 0.413000 47 6 0 0 8.12818e-05 0 0 STXBP4 252983 broad.mit.edu 37 17 53084896 53084897 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr17:53084896_53084897GG>TT uc002iuf.1 + 7 811_812 c.604_605GG>TT c.(604-606)ggg>TTg p.G202L STXBP4_uc010dcc.1_Missense_Mutation_p.G127L|STXBP4_uc010dcd.1_Missense_Mutation_p.G202L NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA. 202 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TGAAAATTATGGGCTACAAGAA 0.356000 399 10 0 0 6.4e-05 0 0 TFR2 7036 broad.mit.edu 37 7 100226876 100226876 + Splice_Site SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:100226876C>T uc003uvv.1 - 10 1459 c.1390_splice c.e10+1 p.G464_splice TFR2_uc010lhc.1_Splice_Site_p.G5_splice|TFR2_uc003uvu.1_Splice_Site_p.G293_splice NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 464 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTGACCTTACCGTTGCTCACC 0.657000 76 10 0 0 0.00010058 0 0 RGS7 6000 broad.mit.edu 37 1 241099908 241099908 + Silent SNP G T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:241099908G>T uc001hyv.2 - 4 655 c.325C>A c.(325-327)Cgg>Agg p.R109R RGS7_uc010pyh.2_Silent_p.R83R|RGS7_uc010pyj.1_Silent_p.R25R|RGS7_uc001hyu.2_Silent_p.R109R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.R109R NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 109 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.R109R(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ACTTGAAACCGGTAAAAGGTG 0.398000 144 6 8.12818e-05 0.00723187 8.12818e-05 1 0 TUBA3D 113457 broad.mit.edu 37 2 132238267 132238267 + Missense_Mutation SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:132238267C>T uc002tsu.4 + 3 1194 c.1001C>T c.(1000-1002)aCc>aTc p.T334I NM_080386 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA. 334 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GCCATCGCCACCATCAAGACC 0.562000 38 10 0 0 3.86212e-05 0 0 TPK1 27010 broad.mit.edu 37 7 144320354 144320355 + Splice_Site DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:144320354_144320355CC>AA uc003weq.3 - 6 362 c.259_splice c.e6-1 p.G87_splice TPK1_uc003weo.3_Splice_Site_p.G82_splice|TPK1_uc003wep.3_Splice_Site|TPK1_uc003wer.3_Splice_Site_p.G87_splice|TPK1_uc003wes.3_Splice_Site NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA. 87 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity p.?(1) large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) AGCTCACATCCCTATGTATTAA 0.312000 386 15 0 0 6.4e-05 0 0 CACNG2 10369 broad.mit.edu 37 22 36983595 36983596 + Splice_Site DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr22:36983595_36983596CC>AA uc003aps.2 - 2 281 c.212_splice c.e2-1 p.G71_splice NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 71 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TTTGAAATTCCCTGCAAAACAA 0.485000 151 8 0 0 6.4e-05 0 0 BTN3A2 11118 broad.mit.edu 37 6 26369000 26369000 + Missense_Mutation SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr6:26369000C>T uc010jqh.2 + 3 552 c.293C>T c.(292-294)tCg>tTg p.S98L BTN3A2_uc003nhp.3_Missense_Mutation_p.S98L|BTN3A2_uc011dkd.2_Missense_Mutation_p.S56L|BTN3A2_uc011dke.2_Missense_Mutation_p.S75L|BTN3A2_uc010jqi.2_Missense_Mutation_p.S98L NM_001197247 NP_001184176 P78410 BT3A2_HUMAN Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA. 98 Ig-like V-type. integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GGGAGAACTTCGATTCTGCGG 0.512000 32 7 0 0 0.00010058 0 0 TPTE 7179 broad.mit.edu 37 21 11012923 11012923 + RNA SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr21:11012923T>C uc002yis.1 - 8 c.1698A>G P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TTACCTAGCTTTTTTACTTTT 0.289000 46 31 0 0 2.25844e-05 0 0 SLC36A4 120103 broad.mit.edu 37 11 92895975 92895976 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:92895975_92895976CC>AA uc001pdn.3 - 8 1030_1031 c.933_934GG>TT c.(931-936)atgggg>atTTgg p.311_312MG>IW SLC36A4_uc001pdm.3_Missense_Mutation_p.176_177MG>IW NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA. 311 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GTAACAATCCCCATGCCAATAT 0.347000 459 12 0 0 6.4e-05 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214123 11214123 + Missense_Mutation SNP G C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:11214123G>C uc001qzp.1 - 0 771 c.771C>G c.(769-771)aaC>aaG p.N257K PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_176887 NP_795368 P59540 T2R46_HUMAN Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA. 257 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AGACAGGTTTGTTTTCCAGAC 0.408000 183 33 0 0 8.91981e-05 0 0 HAVCR1 26762 broad.mit.edu 37 5 156469690 156469691 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr5:156469690_156469691CC>AA uc010jij.1 - 5 969_970 c.784_785GG>TT c.(784-786)ggg>TTg p.G262L HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L|HAVCR1_uc021ygj.1_Missense_Mutation_p.G262L|HAVCR1_uc021ygk.1_Missense_Mutation_p.G93L NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 257 interspecies interaction between organisms integral to membrane receptor activity p.G262V(2) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGTCATTCCCATCTACTCAA 0.347000 318 13 0 0 6.4e-05 0 0 IMPG2 50939 broad.mit.edu 37 3 100976421 100976422 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr3:100976421_100976422CC>AA uc003duq.2 - 9 1307_1308 c.1104_1105GG>TT c.(1102-1107)ctgggg>ctTTgg p.G369W IMPG2_uc011bhe.2_Missense_Mutation_p.G232W NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 369 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity p.L368L(2) NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GAAGAGTTCCCCAGCAAAAAAT 0.401000 79 7 0 0 6.4e-05 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514717 113514717 + Missense_Mutation SNP T G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:113514717T>G uc002tie.2 - 3 310 c.231A>C c.(229-231)aaA>aaC p.K77N CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA. 77 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGGGCTGGAGTTTAATGCTGA 0.413000 99 27 0 0 0.000147802 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917924 144917925 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:144917924_144917925CC>AA uc021ouh.1 - 10 1663_1664 c.1361_1362GG>TT c.(1360-1362)cgg>cTT p.R454L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R454L|PDE4DIP_uc001elx.4_Missense_Mutation_p.R520L|PDE4DIP_uc001emd.2_Missense_Mutation_p.R454L|PDE4DIP_uc001emc.2_Missense_Mutation_p.R454L|PDE4DIP_uc001emb.1_Missense_Mutation_p.R617L|PDE4DIP_uc001eme.1_5'UTR NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 454 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding p.R454L(6)|p.R617L(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTAGGAGCTCCCGAAATTCCTG 0.337000 T PDGFRB MPD 301 9 0 0 6.4e-05 0 0 LAYN 143903 broad.mit.edu 37 11 111428347 111428348 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:111428347_111428348GG>TT uc001plr.1 + 6 1100_1101 c.764_765GG>TT c.(763-765)tgg>tTT p.W255F LAYN_uc001plp.1_Missense_Mutation_p.W247F|LAYN_uc010rwg.1_Missense_Mutation_p.W102F|LAYN_uc010rwh.2_Missense_Mutation_p.W103F NM_178834 NP_849156 Q6UX15 LAYN_HUMAN Homo sapiens layilin (LAYN), mRNA. 255 cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) GTTGTATGTTGGGTTTGGATCT 0.421000 410 10 0 0 6.4e-05 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857274 101857274 + Missense_Mutation SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:101857274G>A uc022cbb.1 + 0 205 c.205G>A c.(205-207)Gag>Aag p.E69K ARMCX5_uc004ejg.3_Missense_Mutation_p.E69K|ARMCX5_uc022caw.1_Missense_Mutation_p.E69K|ARMCX5_uc022cax.1_Missense_Mutation_p.E69K|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.E69K|ARMCX5_uc022cba.1_Missense_Mutation_p.E69K|ARMCX5_uc004ejh.3_Missense_Mutation_p.E69K NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA. 69 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GACCTACAGGGAGGCTATGGC 0.507000 47 13 0 0 0.000151284 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 74 0 0 0.000147903 0 0 TSGA13 114960 broad.mit.edu 37 7 130364052 130364053 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:130364052_130364053GG>TT uc003vqi.3 - 4 784_785 c.327_328CC>AA c.(325-330)acccag>acAAag p.Q110K TSGA13_uc003vqj.3_Missense_Mutation_p.Q110K NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 110 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TTGTCTTGCTGGGTGATTGAGC 0.436000 646 12 0 0 6.4e-05 0 0 FOCAD 54914 broad.mit.edu 37 9 20820362 20820363 + Missense_Mutation DNP GG AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr9:20820362_20820363GG>AA uc003zog.1 + 14 1963_1964 c.1600_1601GG>AA c.(1600-1602)gga>AAa p.G534K FOCAD_uc003zoh.1_5'UTR NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 534 integral to membrane binding ACAACTACTTGGAACCACACCA 0.376000 16 33 0 0 6.4e-05 0 0 CEP41 95681 broad.mit.edu 37 7 130040002 130040003 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:130040002_130040003CG>AT uc003vpz.3 - 9 897_898 c.850_851CG>AT c.(850-852)cgg>ATg p.R284M CEP41_uc003vpy.3_Missense_Mutation_p.R46M|CEP41_uc010lmf.3_Missense_Mutation_p.R81M|CEP41_uc003vqa.3_Intron|CEP41_uc011kpg.2_Intron NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN Homo sapiens centrosomal protein 41kDa (CEP41), mRNA. 284 G2/M transition of mitotic cell cycle centrosome|cytosol GGATCGTTTCCGGGCAGACCCA 0.490000 468 13 0 0 6.4e-05 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19414170 19414170 + RNA SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr13:19414170T>C uc010tcj.1 - 0 c.31940A>G Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GATTGAACAGTTGGTTCAAGT 0.269000 37 3 0 0 0.000151284 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111862223 111862224 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr13:111862223_111862224CG>AT uc001vrs.2 + 4 655_656 c.405_406CG>AT c.(403-408)atcggg>atATgg p.G136W ARHGEF7_uc001vrr.2_Missense_Mutation_p.G115W|ARHGEF7_uc001vrt.2_Missense_Mutation_p.G86W|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Intron|ARHGEF7_uc001vrw.4_5'UTR|ARHGEF7_uc001vrx.4_5'UTR|ARHGEF7_uc010tjo.2_Missense_Mutation_p.G33W NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA. 136 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTGCAGACATCGGGCTGGGGAG 0.525000 165 6 0 0 6.4e-05 0 0 P2RX4 5025 broad.mit.edu 37 12 121666527 121666528 + Splice_Site DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:121666527_121666528GG>TT uc001tzr.3 + 7 910 c.606_splice c.e7-1 p.K202_splice P2RX4_uc010szr.1_Splice_Site|P2RX4_uc010szs.1_Splice_Site|P2RX4_uc009zxc.3_Splice_Site_p.K175_splice|P2RX4_uc010szt.2_Splice_Site_p.K101_splice|P2RX4_uc009zxb.3_Splice_Site NM_002560 NP_002551 Q99571 P2RX4_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA. 202 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCGACTTTAGGAGGAATATCC 0.465000 208 9 0 0 6.4e-05 0 0 CACNA1S 779 broad.mit.edu 37 1 201042689 201042690 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:201042689_201042690GG>TT uc001gvv.3 - 14 2371_2372 c.2144_2145CC>AA c.(2143-2145)ccc>cAA p.P715Q NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 715 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGCAGTGGTGGGGATGCCCTC 0.550000 239 9 0 0 6.4e-05 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:57485446T>C uc001smz.3 + 1 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NM_005967 NP_005958 Q15742 NAB2_HUMAN Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA. 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 7 5 0 0 3.59834e-05 0 0 HMGXB4 10042 broad.mit.edu 37 22 35658400 35658401 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr22:35658400_35658401CC>AA uc003anl.3 + 1 191_192 c.17_18CC>AA c.(16-18)tcc>tAA p.S6* HMGXB4_uc011amh.1_Intron|HMGXB4_uc003ank.3_5'UTR NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA. 6 Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of 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 TATGATGACTCCGTGAAGAAAG 0.505000 147 7 0 0 6.4e-05 0 0 KCNC2 3747 broad.mit.edu 37 12 75444669 75444669 + Silent SNP T A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:75444669T>A uc001sxg.1 - 2 1660 c.1116A>T c.(1114-1116)ggA>ggT p.G372G KCNC2_uc009zry.3_Silent_p.G372G|KCNC2_uc001sxe.3_Silent_p.G372G|KCNC2_uc001sxf.3_Silent_p.G372G|KCNC2_uc010stw.1_Silent_p.G372G NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 372 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity p.G372*(1)|p.L371L(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 GAAGAGTATGTCCAAGCACCC 0.443000 22 5 0 0 1.23904e-05 0 0 DISP1 84976 broad.mit.edu 37 1 223179274 223179275 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:223179274_223179275CG>AT uc001hnu.2 + 9 4861_4862 c.4535_4536CG>AT c.(4534-4536)tcg>tAT p.S1512Y NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1512 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTAACACACTCGGAACTTTCTG 0.361000 455 9 0 0 6.4e-05 0 0 NBEAL1 65065 broad.mit.edu 37 2 203977932 203977933 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:203977932_203977933CC>AA uc002uzt.3 + 15 2643_2644 c.2310_2311CC>AA c.(2308-2313)acccaa>acAAaa p.Q771K NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 771 binding p.L771I(1) NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CAGCTGGAACCCAAGACAGTGA 0.446000 247 8 0 0 6.4e-05 0 0 HMGCR 3156 broad.mit.edu 37 5 74645947 74645948 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr5:74645947_74645948CC>AA uc011cst.2 + 6 949_950 c.697_698CC>AA c.(697-699)cca>AAa p.P233K HMGCR_uc003kdp.3_Missense_Mutation_p.P213K|HMGCR_uc003kdq.3_Missense_Mutation_p.P213K|HMGCR_uc010izn.1_Missense_Mutation_p.P53K NM_000859 NP_000850 P04035 HMDH_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA. 213 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GACTTTCTTCCCAGCTTGTGTG 0.396000 361 15 0 0 6.4e-05 0 0 C8orf37 157657 broad.mit.edu 37 8 96272124 96272125 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr8:96272124_96272125CG>AT uc003yho.2 - 3 362_363 c.317_318CG>AT c.(316-318)ccg>cAT p.P106H NM_177965 NP_808880 Q96NL8 CH037_HUMAN Homo sapiens chromosome 8 open reading frame 37 (C8orf37), mRNA. 106 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) CAAGGTACACCGGACTGCAACT 0.327000 337 7 0 0 6.4e-05 0 0 RSRC2 65117 broad.mit.edu 37 12 122990136 122990137 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:122990136_122990137GG>TT uc001ucr.3 - 9 1402_1403 c.1242_1243CC>AA c.(1240-1245)acccac>acAAac p.H415N RSRC2_uc001uco.3_Missense_Mutation_p.H184N|RSRC2_uc001ucp.3_Missense_Mutation_p.H356N|RSRC2_uc001ucs.3_Missense_Mutation_p.H184N|RSRC2_uc001uct.3_Missense_Mutation_p.H367N NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA. 415 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CTTTGTGTGTGGGTTTGTGATC 0.391000 87 6 0 0 6.4e-05 0 0 LEMD3 23592 broad.mit.edu 37 12 65564456 65564456 + Silent SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:65564456C>T uc001ssl.2 + 0 1106 c.1080C>T c.(1078-1080)aaC>aaT p.N360N LEMD3_uc009zqo.2_Silent_p.N360N NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA. 360 negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) ACCGTGTTAACGCTAAGAAAC 0.552000 31 7 0 0 5.18039e-06 0 0 SLC23A2 9962 broad.mit.edu 37 20 4865410 4865411 + Silent DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr20:4865410_4865411GG>TT uc002wlg.1 - 7 1005_1006 c.630_631CC>AA c.(628-633)ccccgg>ccAAgg p.210_211PR>PR SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Silent_p.210_211PR>PR|SLC23A2_uc002wli.3_Silent_p.209_210PR>PR NM_005116 NP_976072 Q9UGH3 S23A2_HUMAN Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA. 210 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.R211R(2) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCTCGGATCCGGGGATACCAGA 0.416000 147 6 0 0 6.4e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr20:29628251A>G uc010ztl.1 + 2 195 c.163A>G c.(163-165)Aat>Gat p.N55D FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 86 6 0 0 1.12685e-05 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44021765 44021765 + Missense_Mutation SNP A G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:44021765A>G uc002rtl.3 + 5 590 c.490A>G c.(490-492)Atg>Gtg p.M164V DYNC2LI1_uc002rth.3_Missense_Mutation_p.M164V|DYNC2LI1_uc002rti.3_3'UTR|DYNC2LI1_uc002rtk.3_Missense_Mutation_p.M164V|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.M38V|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.M38V NM_001193464 NP_001180393 Q8TCX1 DC2L1_HUMAN Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA. 164 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGAATAATATGCCGAAGGA 0.363000 302 106 0 0 0.000147903 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442540 37442541 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:37442540_37442541CC>AA uc021ppc.1 + 12 1679_1680 c.1580_1581CC>AA c.(1579-1581)ccc>cAA p.P527Q ANKRD30A_uc001iza.1_Missense_Mutation_p.P527Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 583 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTGTGTTTACCCAAGGCTACAC 0.297000 274 9 0 0 6.4e-05 0 0 ROR2 4920 broad.mit.edu 37 9 94486904 94486904 + Silent SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr9:94486904G>A uc004arj.2 - 8 2071 c.1872C>T c.(1870-1872)taC>taT p.Y624Y ROR2_uc004ari.1_Silent_p.Y484Y NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 624 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCAGCTTGTCGTACACTAGCA 0.577000 59 13 0 0 0.000151284 0 0 PNPLA8 50640 broad.mit.edu 37 7 108154703 108154704 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:108154703_108154704CG>AT uc003vff.1 - 4 1497_1498 c.1090_1091CG>AT c.(1090-1092)cgg>ATg p.R364M PNPLA8_uc003vfi.1_Missense_Mutation_p.R264M|PNPLA8_uc003vfh.1_Missense_Mutation_p.R364M|PNPLA8_uc003vfj.1_Missense_Mutation_p.R364M|PNPLA8_uc003vfk.1_Missense_Mutation_p.R264M NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA. 364 fatty acid metabolic process|lipid catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 AACTAATGCCCGGGTCCTGTTA 0.356000 345 9 0 0 6.4e-05 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543262 182543263 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:182543262_182543263CG>AT uc021vto.1 - 0 325_326 c.325_326CG>AT c.(325-327)cgg>ATg p.R109M CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.R109M|NEUROD1_uc021vtn.1_Missense_Mutation_p.R109M NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 109 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.R109L(2) endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GTTCCGCTCCCGGGCGTTAGCC 0.545000 231 7 0 0 6.4e-05 0 0 CXorf23 256643 broad.mit.edu 37 X 19953962 19953963 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:19953962_19953963CC>AA uc004czp.3 - 8 1827_1828 c.1827_1828GG>TT c.(1825-1830)gaggga>gaTTga p.609_610EG>D* CXorf23_uc011mjg.2_Intron|CXorf23_uc004czo.3_Nonsense_Mutation_p.588_589EG>D* NM_198279 NP_938020 A2AJT9 CX023_HUMAN Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA. 638 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 CGGTGGTTTCCCTCAACCTCAA 0.347000 297 10 0 0 6.4e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92086896 92086897 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:92086896_92086897CC>AA uc001pdj.4 + 0 1635_1636 c.1618_1619CC>AA c.(1618-1620)cca>AAa p.P540K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 540 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGAATCCTCCCCAGAAATTTAC 0.401000 TCGA Ovarian(4;0.039) 347 10 0 0 6.4e-05 0 0 DTX1 1840 broad.mit.edu 37 12 113515257 113515257 + Silent SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:113515257C>T uc001tuk.1 + 1 624 c.288C>T c.(286-288)ttC>ttT p.F96F NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 96 WWE 2. Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGCGCAACTTCTACGACCCGT 0.672000 23 6 0 0 3.59834e-05 0 0 CCNE2 9134 broad.mit.edu 37 8 95897418 95897419 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr8:95897418_95897419CC>AA uc003yhc.3 - 8 811_812 c.707_708GG>TT c.(706-708)tgg>tTT p.W236F CCNE2_uc003yhd.2_Missense_Mutation_p.W236F NM_057749 NP_477097 O96020 CCNE2_HUMAN Homo sapiens cyclin E2 (CCNE2), mRNA. 236 G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) GACAAAGTTCCCATTTTAAAGC 0.366000 322 11 0 0 6.4e-05 0 0 RRP15 51018 broad.mit.edu 37 1 218458675 218458675 + Missense_Mutation SNP C G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:218458675C>G uc001hlj.3 + 0 47 c.17C>G c.(16-18)cCg>cGg p.P6R NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA. 6 mitochondrion|nucleolus protein binding p.A5S(1) ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) GCCGCCGCTCCGGACTCACGT 0.547000 19 21 0 0 3.10358e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92570935 92570936 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:92570935_92570936CG>AT uc001pdj.4 + 15 10348_10349 c.10331_10332CG>AT c.(10330-10332)ccg>cAT p.P3444H FAT3_uc001pdi.4_5'Flank NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3444 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACAACAGCCCGGTGTTTACAC 0.470000 TCGA Ovarian(4;0.039) 316 8 0 0 6.4e-05 0 0 DOCK7 85440 broad.mit.edu 37 1 63048872 63048872 + Silent SNP G C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:63048872G>C uc001daq.3 - 15 1888 c.1854C>G c.(1852-1854)gcC>gcG p.A618A DOCK7_uc001dan.3_Silent_p.A510A|DOCK7_uc001dao.3_Silent_p.A510A|DOCK7_uc001dap.3_Silent_p.A618A NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 618 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GATATACTACGGCTGTATAGG 0.348000 143 5 0 0 8.12818e-05 0 0 PTBP2 58155 broad.mit.edu 37 1 97278427 97278427 + Missense_Mutation SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:97278427C>T uc001drq.3 + 11 1577 c.1331C>T c.(1330-1332)tCc>tTc p.S444F PTBP2_uc001drn.2_Missense_Mutation_p.S449F|PTBP2_uc001dro.2_Missense_Mutation_p.S444F|PTBP2_uc010otz.1_Missense_Mutation_p.S460F|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.S392F|PTBP2_uc001drr.3_Missense_Mutation_p.S449F|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drs.1_Missense_Mutation_p.S63F|PTBP2_uc001drt.3_Missense_Mutation_p.S63F|PTBP2_uc021oqi.1_5'Flank NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA. 444 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AAACCTGGATCCAAAAATTTT 0.373000 26 9 0 0 2.17888e-05 0 0 C17orf80 55028 broad.mit.edu 37 17 71231869 71231869 + Missense_Mutation SNP T G G rs148616003 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr17:71231869T>G uc002jjm.4 + 2 442 c.248T>G c.(247-249)gTg>gGg p.V83G C17orf80_uc010wqu.1_Missense_Mutation_p.V83G|C17orf80_uc010dfj.3_Missense_Mutation_p.V83G|C17orf80_uc002jjk.1_Missense_Mutation_p.V83G|C17orf80_uc002jjl.4_Missense_Mutation_p.V83G NM_017941 NP_060411 Q9BSJ5 CQ080_HUMAN Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA. 83 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) AAGTTGGTGGTGGACAAACCA 0.398000 32 11 0 0 6.40141e-05 0 0 FAM211A 388341 broad.mit.edu 37 17 16347246 16347246 + Missense_Mutation SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr17:16347246G>A uc010cph.1 - 3 867 c.691C>T c.(691-693)Cgc>Tgc p.R231C FAM211A_uc002gqh.2_Missense_Mutation_p.P192L|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron|FAM211A_uc002gqg.1_3'UTR NM_001113567 NP_001107039 Q8NAA5 CQ076_HUMAN Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA. 231 lung(1) 1 GTGGTGAGGCGGGGCAGGGTG 0.632000 24 6 0 0 3.59834e-05 0 0 MUC3A 4584 broad.mit.edu 37 7 100551902 100551903 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:100551902_100551903GG>TT uc003uxl.1 + 0 1153_1154 c.353_354GG>TT c.(352-354)agg>aTT p.R118I MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCTTTCACTAGGGGAAGTACGT 0.436000 598 16 0 0 6.4e-05 0 0 TAF1A 9015 broad.mit.edu 37 1 222743899 222743900 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:222743899_222743900GG>TT uc009xdz.2 - 5 921_922 c.712_713CC>AA c.(712-714)cct>AAt p.P238N TAF1A_uc001hni.2_Missense_Mutation_p.P124N|TAF1A_uc001hnj.3_Missense_Mutation_p.P238N|TAF1A_uc010pur.2_Missense_Mutation_p.P238N NM_001201536 NP_001188465 Q15573 TAF1A_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA. 238 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) CTTCACAAAAGGGTCCCAAACT 0.342000 338 11 0 0 6.4e-05 0 0 DISP1 84976 broad.mit.edu 37 1 223176194 223176195 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:223176194_223176195CG>AT uc001hnu.2 + 9 1781_1782 c.1455_1456CG>AT c.(1453-1458)accggg>acATgg p.G486W NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 486 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTACCATCACCGGGATTGAGTT 0.426000 536 17 0 0 6.4e-05 0 0 NLRP11 204801 broad.mit.edu 37 19 56320401 56320402 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:56320401_56320402CG>AT uc010ygf.2 - 4 2285_2286 c.1574_1575CG>AT c.(1573-1575)tcg>tAT p.S525Y NLRP11_uc002qlz.3_Missense_Mutation_p.S426Y|NLRP11_uc002qmb.3_Missense_Mutation_p.S426Y|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 525 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TGTATCCCACCGAGTACCACTT 0.416000 145 5 0 0 6.4e-05 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254167 30254167 + Silent SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:30254167C>T uc022bug.1 + 0 126 c.126C>T c.(124-126)tcC>tcT p.S42S MAGEB3_uc004dca.2_Silent_p.S42S NM_002365 NP_002356 O15480 MAGB3_HUMAN Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA. 42 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CCTTTTCATCCCCTCTTATTT 0.498000 8 11 0 0 6.40141e-05 0 0 BLM 641 broad.mit.edu 37 15 91310218 91310219 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr15:91310218_91310219CC>AA uc002bpr.3 + 9 2369_2370 c.2272_2273CC>AA c.(2272-2274)cca>AAa p.P758K BLM_uc010uqh.2_Missense_Mutation_p.P758K|BLM_uc010uqi.2_Missense_Mutation_p.P383K|BLM_uc010bnx.3_Missense_Mutation_p.P758K NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 758 Helicase ATP-binding. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding p.D757G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AAAAAAAGACCCAATCATAAAA 0.272000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 269 10 0 0 6.4e-05 0 0 CECR1 51816 broad.mit.edu 37 22 17688079 17688079 + Missense_Mutation SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr22:17688079C>T uc002zmk.1 - 1 636 c.424G>A c.(424-426)Ggg>Agg p.G142R CECR1_uc010gqu.1_Missense_Mutation_p.G142R|CECR1_uc011agi.1_Missense_Mutation_p.G100R|CECR1_uc011agj.1_Missense_Mutation_p.G100R NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 142 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TGCATGATCCCCCTTGGGGTG 0.532000 15 45 0 0 0.000147903 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 91951 91951 + RNA SNP C G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrGL000211.1:91951C>G uc003bnz.1 + 6 c.1307C>G FLJ43315_uc003boa.3_Intron Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. GTAAATTTATCTATAGATTTC 0.318000 11 3 0 0 6.4e-05 0 0 BLM 641 broad.mit.edu 37 15 91308573 91308574 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr15:91308573_91308574GG>TT uc002bpr.3 + 8 2219_2220 c.2122_2123GG>TT c.(2122-2124)ggg>TTg p.G708L BLM_uc010uqh.2_Missense_Mutation_p.G708L|BLM_uc010uqi.2_Missense_Mutation_p.G333L|BLM_uc010bnx.3_Missense_Mutation_p.G708L NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 708 Helicase ATP-binding. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGTTTCTCCTGGGGTCACTGTT 0.401000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 350 10 0 0 6.4e-05 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502272 140502272 + Missense_Mutation SNP T A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr5:140502272T>A uc003lip.1 + 0 692 c.692T>A c.(691-693)aTc>aAc p.I231N NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 231 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAATCCTGATCATGGACATC 0.537000 53 12 0 0 1.49906e-05 0 0 HERC4 26091 broad.mit.edu 37 10 69785421 69785421 + Missense_Mutation SNP A G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:69785421A>G uc001jng.4 - 7 1101 c.790T>C c.(790-792)Ttt>Ctt p.F264L HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.F264L|HERC4_uc009xpr.3_Missense_Mutation_p.F264L|HERC4_uc001jni.4_Missense_Mutation_p.F8L NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA. 264 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 CCAAAAGTAAACACTCCACCT 0.358000 23 26 0 0 2.90539e-05 0 0 ZNF248 57209 broad.mit.edu 37 10 38120724 38120724 + Missense_Mutation SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:38120724T>C uc001izd.1 - 5 2058 c.1559A>G c.(1558-1560)tAt>tGt p.Y520C ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.Y520C NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN Homo sapiens zinc finger protein 248 (ZNF248), mRNA. 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 ATTACACTTATATGGTTTCTC 0.408000 18 19 0 0 9.7654e-05 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53679806 53679807 + Missense_Mutation DNP CG AT AT rs145665129 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr16:53679806_53679807CG>AT uc002ehp.3 - 16 2477_2478 c.2413_2414CG>AT c.(2413-2415)cga>ATa p.R805I RPGRIP1L_uc002eho.4_Missense_Mutation_p.R805I|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R805I|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R805I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R805I NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 805 C2 2. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GTGGCTTGCTCGGGACTGCAGG 0.436000 478 12 0 0 6.4e-05 0 0 NOX4 50507 broad.mit.edu 37 11 89073294 89073295 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:89073294_89073295CC>AA uc001pct.3 - 14 1621_1622 c.1382_1383GG>TT c.(1381-1383)tgg>tTT p.W461F NOX4_uc009yvr.3_Missense_Mutation_p.W436F|NOX4_uc001pcu.3_Missense_Mutation_p.W387F|NOX4_uc001pcw.3_Missense_Mutation_p.W154F|NOX4_uc001pcx.3_Missense_Mutation_p.W114F|NOX4_uc001pcv.3_Missense_Mutation_p.W421F|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Splice_Site_p.W295_splice|NOX4_uc009yvp.3_Missense_Mutation_p.W225F|NOX4_uc010rtv.2_Missense_Mutation_p.W397F|NOX4_uc009yvq.3_Missense_Mutation_p.W437F NM_016931 NP_001137309 Q9NPH5 NOX4_HUMAN Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA. 461 Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CTCTGCATACCCAAATAAAGTA 0.342000 146 8 0 0 6.4e-05 0 0 APOB 338 broad.mit.edu 37 2 21235357 21235358 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:21235357_21235358CC>AA uc002red.3 - 25 4510_4511 c.4382_4383GG>TT c.(4381-4383)tgg>tTT p.W1461F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1461 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTGTGGTCCCCAGGAACTAGA 0.381000 334 9 0 0 6.4e-05 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88876160 88876163 + Missense_Mutation DNP CG AT AT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:88876160_88876163CG>AT uc002stc.4 - 11 2247_2250 c.1945_1948CG>AT c.(1945-1950)ccgggc>ATgc p.649_650PG>M NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 649 Protein kinase. ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding p.G650R(1) ovary(3) 3 CTAACAATGCCCGGGTGTTCAAGC 0.407000 386 9 0 0 6.4e-05 0 0 NME9 347736 broad.mit.edu 37 3 138033207 138033208 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr3:138033207_138033208GG>TT uc003esg.3 - 5 454_455 c.426_427CC>AA c.(424-429)tcccat>tcAAat p.H143N NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.H58N|NME9_uc003ese.1_Missense_Mutation_p.H82N NM_178130 NP_835231 Q86XW9 TXND6_HUMAN Homo sapiens NME gene family member 9 (NME9), mRNA. 143 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TTCTTTCCATGGGAAACACATT 0.347000 368 13 0 0 6.4e-05 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455562 50455562 + Missense_Mutation SNP C T T rs140702198 byFrequency TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:50455562C>T uc010ybh.2 - 8 1832 c.1741G>A c.(1741-1743)Gtc>Atc p.V581I SIGLEC11_uc010ybi.2_Missense_Mutation_p.V485I NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 581 cell adhesion integral to membrane sugar binding p.V569I(1)|p.V581I(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TACCTGAAGACGACAAGGCAG 0.622000 25 20 0 0 3.10358e-05 0 0 KCTD7 154881 broad.mit.edu 37 7 66104168 66104168 + Silent SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:66104168C>T uc003tve.3 + 3 1003 c.819C>T c.(817-819)aaC>aaT p.N273N RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Silent_p.N273N NM_153033 NP_694578 Q96MP8 KCTD7_HUMAN Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA. 273 voltage-gated potassium channel complex voltage-gated potassium channel activity p.V272V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 ACCTCGTGAACCACTACTACT 0.577000 32 12 0 0 0.00010058 0 0 HSPG2 3339 broad.mit.edu 37 1 22178171 22178171 + Silent SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:22178171G>A uc009vqd.3 - 54 7069 c.7029C>T c.(7027-7029)ccC>ccT p.P2343P HSPG2_uc001bfj.3_Silent_p.P2342P NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2342 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGATGCGGATGGGCTGGGTGC 0.642000 34 8 0 0 3.86212e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 145311151 145311152 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:145311151_145311152CC>AA uc021oul.1 + 12 1885_1886 c.1850_1851CC>AA c.(1849-1851)ccc>cAA p.P617Q NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Missense_Mutation_p.P156Q|NBPF10_uc010oyj.2_5'Flank|NBPF10_uc010oyl.2_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.Q292K|NBPF10_uc021oum.1_Missense_Mutation_p.P156Q|NBPF10_uc021oun.1_5'Flank|NBPF10_uc021ouo.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 617 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCAACAGGTCCCAGGTGAGTCT 0.426000 354 11 0 0 6.4e-05 0 0 AIRE 326 broad.mit.edu 37 21 45706946 45706946 + Silent SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr21:45706946G>A uc002zei.2 + 2 520 c.393G>A c.(391-393)aaG>aaA p.K131K NM_000383 NP_000374 O43918 AIRE_HUMAN Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA. 131 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) TCCCCACCAAGAGGAAGGCCT 0.697000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 17 5 0 0 3.59834e-05 0 0 SSU72 29101 broad.mit.edu 37 1 1480368 1480369 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:1480368_1480369CC>AA uc001agd.3 - 2 563_564 c.238_239GG>TT c.(238-240)ggg>TTg p.G80L SSU72_uc009vkg.1_Missense_Mutation_p.G80L NM_014188 NP_054907 Q9NP77 SSU72_HUMAN Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) (SSU72), mRNA. 80 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) ATGTAAAATCCCATTCTGTGTA 0.480000 99 7 0 0 6.4e-05 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64527285 64527286 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr3:64527285_64527286GG>TT uc003dmg.3 - 33 5240_5241 c.5208_5209CC>AA c.(5206-5211)ccccag>ccAAag p.Q1737K ADAMTS9_uc011bfo.2_Missense_Mutation_p.Q1709K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.Q648K NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 1737 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTGCAATTCTGGGGTAACTCAC 0.391000 277 10 0 0 6.4e-05 0 0 LRPPRC 10128 broad.mit.edu 37 2 44190810 44190811 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:44190810_44190811CC>AA uc002rtr.2 - 11 1462_1463 c.1404_1405GG>TT c.(1402-1407)ttggga>ttTTga p.468_469LG>F* LRPPRC_uc010yob.1_Nonsense_Mutation_p.368_369LG>F* NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 468 mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GGATGTACTCCCAATTCTTGCA 0.366000 378 9 0 0 6.4e-05 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342234 60342234 + RNA SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr17:60342234C>T uc010woz.2 - 13 c.1895G>A Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 GTCTGGTGTGCTCCATCTCTG 0.498000 26 4 0 0 1.23904e-05 0 0 GRIA3 2892 broad.mit.edu 37 X 122551412 122551412 + Missense_Mutation SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:122551412G>A uc004etq.4 + 10 1952 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K GRIA3_uc004etr.4_Missense_Mutation_p.E554K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E538K NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 554 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CCTGGCTTATGAAATCTGGAT 0.428000 135 88 0 0 0.000147903 0 0 DOCK11 139818 broad.mit.edu 37 X 117752567 117752567 + Missense_Mutation SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:117752567T>C uc004eqp.2 + 30 3410 c.3347T>C c.(3346-3348)gTt>gCt p.V1116A DOCK11_uc004eqq.2_Missense_Mutation_p.V895A NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1116 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CACTTCTTGGTTGGTCTACTT 0.318000 52 28 0 0 3.70037e-05 0 0 RSRC2 65117 broad.mit.edu 37 12 123001841 123001841 + Missense_Mutation SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:123001841G>A uc001ucr.3 - 4 695 c.535C>T c.(535-537)Cgt>Tgt p.R179C RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_Missense_Mutation_p.R120C|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_Missense_Mutation_p.R131C|RSRC2_uc021rfm.1_Missense_Mutation_p.R179C NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA. 179 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GAGCGGGAACGAGACCTGATC 0.483000 27 39 0 0 0.000125731 0 0 TFAP2D 83741 broad.mit.edu 37 6 50712873 50712873 + Missense_Mutation SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr6:50712873C>T uc003paf.3 + 5 1449 c.937C>T c.(937-939)Cca>Tca p.P313S TFAP2D_uc011dwt.2_Non-coding_Transcript NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA. 313 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AACAGAGTTTCCAGCCAAAGC 0.453000 19 18 0 0 9.7654e-05 0 0 KCNT1 57582 broad.mit.edu 37 9 138670652 138670652 + Missense_Mutation SNP G A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr9:138670652G>A uc011mdq.2 + 22 2787 c.2713G>A c.(2713-2715)Gtg>Atg p.V905M KCNT1_uc011mdr.2_Missense_Mutation_p.V732M|KCNT1_uc010nbf.3_Missense_Mutation_p.V860M|KCNT1_uc004cgo.1_Missense_Mutation_p.V654M NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 905 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CATCGTCAACGTGCAGACCAT 0.637000 10 11 0 0 6.40141e-05 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C A A rs4041777 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr21:11012916C>A uc002yis.1 - 9 c.1704_splice c.e9+1 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TCAAATTTTACCTAGCTTTTT 0.299000 44 29 1.77063e-15 1.60455e-13 0.000117367 1 0 SIGLEC17P 284367 broad.mit.edu 37 19 51671531 51671531 + Missense_Mutation SNP C T T rs139300887 by1000genomes TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:51671531C>T uc010ycv.2 + 2 680 c.670C>T c.(670-672)Cgg>Tgg p.R224W SIGLEC17P_uc010ycu.2_Missense_Mutation_p.R224W|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.R224W|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.R224W Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA. GATCATCCCACGGCCTCAGGA 0.627000 13 5 0 0 1.23904e-05 0 0 UPF2 26019 broad.mit.edu 37 10 11994238 11994238 + Missense_Mutation SNP C A A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:11994238C>A uc001ila.3 - 13 3335 c.2861G>T c.(2860-2862)tGg>tTg p.W954L UPF2_uc001ilb.3_Missense_Mutation_p.W954L|UPF2_uc001ilc.3_Missense_Mutation_p.W954L|UPF2_uc009xiz.2_Missense_Mutation_p.W954L NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 954 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TTTCTTCCACCAAACATAACG 0.294000 216 9 1.58986e-06 0.000142752 3.86212e-05 1 0 ARMCX3 51566 broad.mit.edu 37 X 100881092 100881093 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:100881092_100881093CC>AA uc022cap.1 + 0 1123_1124 c.1123_1124CC>AA c.(1123-1125)cca>AAa p.P375K ARMCX3_uc004ehz.1_Missense_Mutation_p.P375K|ARMCX3_uc004eia.1_Missense_Mutation_p.P375K|ARMCX3_uc004eib.1_Missense_Mutation_p.P375K|ARMCX3_uc004eic.1_Missense_Mutation_p.P375K NM_177948 NP_808817 Q9UH62 ARMX3_HUMAN Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA. 375 integral to membrane binding p.P375Q(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ACATATGTTCCCAAAGAGCCAG 0.351000 170 7 0 0 6.4e-05 0 0 CLCC1 23155 broad.mit.edu 37 1 109479864 109479865 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:109479864_109479865GG>TT uc021ora.1 - 8 1228_1229 c.1217_1218CC>AA c.(1216-1218)ccc>cAA p.P406Q AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.P356Q|CLCC1_uc001dwf.1_Missense_Mutation_p.P406Q|CLCC1_uc009wes.1_Missense_Mutation_p.P285Q|CLCC1_uc009wet.1_Missense_Mutation_p.P221Q NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA. 406 Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CTTGCTCAGTGGGGCCCATTTG 0.500000 199 8 0 0 6.4e-05 0 0 PIK3CB 5291 broad.mit.edu 37 3 138452272 138452273 + Missense_Mutation DNP CC AA AA rs147232279 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr3:138452272_138452273CC>AA uc011bmq.2 - 5 980_981 c.980_981GG>TT c.(979-981)tgg>tTT p.W327F NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 327 G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TGTTATTTTCCCAAACATGCTG 0.292000 187 10 0 0 6.4e-05 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + Silent SNP T C C rs140267598 by1000genomes TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:142481789T>C uc011ksq.2 + 3 551 c.468T>C c.(466-468)gaT>gaC p.D156D TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. ACTACCCAGATGAGCTGCAGT 0.488000 7 3 0 0 1.23904e-05 0 0 CHRM3 1131 broad.mit.edu 37 1 240071307 240071307 + Missense_Mutation SNP G C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:240071307G>C uc021plc.1 + 0 556 c.556G>C c.(556-558)Ggt>Cgt p.G186R CHRM3_uc001hyp.3_Missense_Mutation_p.G186R NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 186 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AAAGAGAGCCGGTGTGATGAT 0.502000 134 5 0 0 5.18039e-06 0 0 TFIP11 24144 broad.mit.edu 37 22 26894937 26894937 + Missense_Mutation SNP C G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr22:26894937C>G uc003acr.2 - 8 1708 c.1334G>C c.(1333-1335)tGc>tCc p.C445S TFIP11_uc003acs.2_Missense_Mutation_p.C445S|TFIP11_uc003act.2_Missense_Mutation_p.C445S NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA. 445 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GCCATAAGTGCAGTCCTGAGG 0.557000 60 16 0 0 3.45872e-05 0 0 G3BP2 9908 broad.mit.edu 37 4 76584050 76584051 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr4:76584050_76584051GG>TT uc003hir.3 - 2 318_319 c.153_154CC>AA c.(151-156)ccccag>ccAAag p.Q52K G3BP2_uc003his.3_Missense_Mutation_p.Q52K|G3BP2_uc003hit.3_Missense_Mutation_p.Q52K NM_012297 NP_987101 Q9UN86 G3BP2_HUMAN Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA. 52 NTF2. Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACAGCTTCCTGGGGCTTTCCAC 0.347000 154 7 0 0 6.4e-05 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166913 96166914 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr8:96166913_96166914GG>TT uc022ayk.1 + 0 641_642 c.641_642GG>TT c.(640-642)ggg>gTT p.G214V PLEKHF2_uc003yhn.2_Missense_Mutation_p.G214V NM_024613 NP_078889 Q9H8W4 PKHF2_HUMAN Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA. 214 transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) CTTTCTGCTGGGGACATGGCCA 0.480000 382 11 0 0 6.4e-05 0 0 CEP41 95681 broad.mit.edu 37 7 130067831 130067832 + Missense_Mutation DNP GG TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:130067831_130067832GG>TT uc003vpz.3 - 1 108_109 c.61_62CC>AA c.(61-63)cca>AAa p.P21K CEP41_uc010lmf.3_5'UTR|CEP41_uc003vqa.3_Missense_Mutation_p.P21K|CEP41_uc011kpg.2_Missense_Mutation_p.P21K|CEP41_uc003vqb.1_Non-coding_Transcript NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN Homo sapiens centrosomal protein 41kDa (CEP41), mRNA. 21 G2/M transition of mitotic cell cycle centrosome|cytosol CTGGTATCTTGGGTTCTGTGGT 0.312000 649 20 0 0 6.4e-05 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453583 84453583 + Missense_Mutation SNP T C C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr13:84453583T>C uc001vlk.3 - 0 2946 c.2060A>G c.(2059-2061)tAt>tGt p.Y687C NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 687 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCCACAGTCATACACTCTGTG 0.587000 18 7 0 0 8.12818e-05 0 0 MIA3 375056 broad.mit.edu 37 1 222801195 222801196 + Missense_Mutation DNP CC AA AA TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:222801195_222801196CC>AA uc001hnl.3 + 3 642_643 c.633_634CC>AA c.(631-636)tcccat>tcAAat p.H212N MIA3_uc009xea.1_Missense_Mutation_p.H48N NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 212 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AGCACCACTCCCATGCAAACAG 0.416000 368 9 0 0 6.4e-05 0 0 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C T T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:148012531C>T uc001eqq.3 - 11 1460 c.1428G>A c.(1426-1428)aaG>aaA p.K476K NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Silent_p.K387K|NBPF14_uc021owc.1_Silent_p.K143K|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Silent_p.K631K|NBPF14_uc021owh.1_Silent_p.K387K|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA. 476 NBPF 5. cytoplasm p.K476K(4)|p.K476N(2)|p.E475Q(1)|p.K476Q(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 8 4 0 0 2.56e-06 0 0 PPFIA4 8497 broad.mit.edu 37 1 203008129 203008129 + Frame_Shift_Del DEL C - - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:203008129delC uc009xaj.3 + 5 434 c.434delC c.(433-435)accfs p.T145fs O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 61 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GCCCTGCCAACCCCCACCATG 0.642 OREG0014109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 4 --- --- 2 --- PXDN 7837 broad.mit.edu 37 2 1637997 1637998 + Frame_Shift_Ins INS - TT TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:1637997_1637998insTT uc002qxa.3 - 22 4482_4483 c.4418_4419insAA c.(4417-4419)aagfs p.K1473fs NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 1473 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCTCCGCCCTCTTCTGTAAGCA 0.639 --- 4 --- --- 2 --- ETV7 51513 broad.mit.edu 37 6 36341294 36341294 + Frame_Shift_Del DEL C - - rs3213530 byFrequency TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr6:36341294delC uc003omb.3 - 3 628 c.369delG c.(367-369)gggfs p.G123fs ETV7_uc003olz.2_Frame_Shift_Del_p.G123fs|ETV7_uc003oma.2_Frame_Shift_Del_p.G68fs|ETV7_uc003omc.3_Frame_Shift_Del_p.G68fs|ETV7_uc010jwj.3_Frame_Shift_Del_p.G64fs|ETV7_uc010jwi.3_Frame_Shift_Del_p.G123fs|ETV7_uc010jwh.3_Frame_Shift_Del_p.G42fs|ETV7_uc011dtl.2_5'UTR NM_016135 NP_001193970 Q9Y603 ETV7_HUMAN Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA. 123 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CAAAAAAGGGCCCACACACCA 0.627 --- 4 --- --- 2 --- EIF3B 8662 broad.mit.edu 37 7 2419064 2419064 + Frame_Shift_Del DEL G - - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:2419064delG uc003slx.3 + 17 2460 c.2377delG c.(2377-2379)gacfs p.D793fs EIF3B_uc003sly.3_Frame_Shift_Del_p.D793fs|EIF3B_uc003sma.3_Frame_Shift_Del_p.D521fs|EIF3B_uc003smb.3_Non-coding_Transcript NM_003751 NP_003742 P55884 EIF3B_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA. 793 D -> E (in dbSNP:rs1063257). regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CAACGTGGACGACTGGGAAGA 0.602 --- 4 --- --- 2 --- CD44 960 broad.mit.edu 37 11 35160867 35160867 + Frame_Shift_Del DEL G - - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:35160867delG uc001mvu.3 + 0 451 c.17delG c.(16-18)tggfs p.W6fs CD44_uc021qfw.1_Frame_Shift_Del_p.W6fs|CD44_uc001mvv.3_Frame_Shift_Del_p.W6fs|CD44_uc001mvw.3_Frame_Shift_Del_p.W6fs|CD44_uc001mwc.4_Frame_Shift_Del_p.W6fs|CD44_uc001mvx.3_Frame_Shift_Del_p.W6fs|CD44_uc010rer.2_Frame_Shift_Del_p.W6fs|CD44_uc001mvy.3_Frame_Shift_Del_p.W6fs|CD44_uc009ykh.3_Non-coding_Transcript NM_000610 NP_000601 P16070 CD44_HUMAN Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA. 6 cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation Golgi apparatus|cell surface|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AAGTTTTGGTGGCACGCAGCC 0.716 --- 4 --- --- 2 --- CDH19 28513 broad.mit.edu 37 18 64197127 64197128 + Frame_Shift_Ins INS - G G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr18:64197127_64197128insG uc002lkc.1 - 8 1550_1551 c.1412_1413insC c.(1411-1413)tctfs p.S471fs CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Frame_Shift_Ins_p.S471fs NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 471 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CATAGTATTGAGAGAACTCAGG 0.317 --- 92 --- --- 25 --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T - - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:9361741delT uc002mlb.1 + 0 22 c.22delT c.(22-24)tttfs p.F8fs NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 --- 6 --- --- 3 --- LDOC1 23641 broad.mit.edu 37 X 140271057 140271063 + Frame_Shift_Del DEL CGGGCAG - - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:140271057_140271063delCGGGCAG uc004fbj.3 - 0 248_254 c.144_150delCTGCCCG c.(142-150)agctgcccgfs p.S48fs NM_012317 NP_036449 O95751 LDOC1_HUMAN Homo sapiens leucine zipper, down-regulated in cancer 1 (LDOC1), mRNA. 48 negative regulation of cell proliferation nucleus protein binding p.P50L(2) endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) GGAAGGGCACCGGGCAGCTCGGCGGAC 0.638 --- 12 --- --- 8 ---