Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut KIF22 3835 broad.mit.edu 37 16 29809711 29809711 + Missense_Mutation SNP G G C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr16:29809711G>C ENST00000561482.1 + 3 716 c.79G>C c.(79-81)Ggg>Cgg p.G27R KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.G27R|KIF22_ENST00000569382.2_Missense_Mutation_p.G27R|KIF22_ENST00000160827.4_Missense_Mutation_p.G95R NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 95 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding p.G95R(1) endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 TGCCTTCTATGGGGAGAGGAG 0.532000 3 90 0 0 0.004672 0 0 SELP 6403 broad.mit.edu 37 1 169564029 169564029 + Missense_Mutation SNP A A G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:169564029A>G ENST00000263686.6 - 13 2225 c.2188T>C c.(2188-2190)Tgc>Cgc p.C730R SELP_ENST00000367786.2_Missense_Mutation_p.C668R|SELP_ENST00000367788.2_Missense_Mutation_p.C668R|SELP_ENST00000367794.2_Missense_Mutation_p.C668R|SELP_ENST00000367791.2_Missense_Mutation_p.C544R|SELP_ENST00000367793.2_Missense_Mutation_p.C668R|SELP_ENST00000458599.2_Missense_Mutation_p.C546R|SELP_ENST00000367792.2_Missense_Mutation_p.C546R NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 730 Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.C730R(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TGGAAAGAGCAGATTGATCCA 0.463000 9 105 0 0 0.004482 0 0 FRY 10129 broad.mit.edu 37 13 32868709 32868709 + Splice_Site SNP T T G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr13:32868709T>G ENST00000380250.3 + 60 9279 c.e60+2 FRY_ENST00000380217.1_Splice_Site|FRY_ENST00000542859.1_Splice_Site NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.?(1) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGAGTGCAGGTGACTCTGCTA 0.512000 12 20 0 0 0.003163 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 45 0 0 0.009096 0 0 HSPA9 3313 broad.mit.edu 37 5 137892191 137892191 + Missense_Mutation SNP A A T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr5:137892191A>T ENST00000297185.3 - 16 2037 c.1912T>A c.(1912-1914)Tcc>Acc p.S638T HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 638 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding p.S638T(1) breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGAAGAGAGGATGCTGCCTGT 0.418000 5 256 0 0 0.014758 0 0 TOB1 10140 broad.mit.edu 37 17 48940623 48940623 + Silent SNP T T C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr17:48940623T>C ENST00000499247.2 - 2 1189 c.756A>G c.(754-756)ccA>ccG p.P252P TOB1_ENST00000268957.3_Silent_p.P252P NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 252 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity p.P252P(2) breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) gtggtggtggtggcggtggcg 0.522000 3 22 0 0 0.004672 0 0 CAGE1 285782 broad.mit.edu 37 6 7370201 7370201 + Missense_Mutation SNP G G T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr6:7370201G>T ENST00000502583.1 - 6 2408 c.1844C>A c.(1843-1845)tCc>tAc p.S615Y CAGE1_ENST00000512086.1_Missense_Mutation_p.S615Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.S479Y|CAGE1_ENST00000338150.4_Missense_Mutation_p.S615Y|CAGE1_ENST00000379918.4_Missense_Mutation_p.S615Y NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 615 p.S615Y(2)|p.S479Y(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GTGCATTTTGGAGGCCAGCTG 0.418000 18 28 6.94344e-10 8.93968e-10 0.006122 1 0 SLCO4A1 28231 broad.mit.edu 37 20 61299189 61299189 + Missense_Mutation SNP A A G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr20:61299189A>G ENST00000217159.1 + 8 1770 c.1565A>G c.(1564-1566)gAc>gGc p.D522G SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.D522G NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 522 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.D522G(1) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TGCGGCTCGGACGGCCTCATG 0.657000 30 90 0 0 0.010818 0 0 OR2T1 26696 broad.mit.edu 37 1 248569685 248569685 + Missense_Mutation SNP G G T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:248569685G>T ENST00000366474.1 + 1 390 c.390G>T c.(388-390)aaG>aaT p.K130N NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K130N(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGTGCCTAAGATGCTGGTTA 0.453000 40 235 1.35964e-18 1.79542e-18 0.014410 1 0 BAGE2 85319 broad.mit.edu 37 21 11097627 11097627 + RNA SNP G G C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr21:11097627G>C ENST00000470054.1 - 0 242 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gagcagctgggcagacaatgc 0.557000 3 36 0 0 0.004672 0 0 CBX4 8535 broad.mit.edu 37 17 77807808 77807808 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr17:77807808C>T ENST00000269397.4 - 5 1810 c.1633G>A c.(1633-1635)Gtc>Atc p.V545I NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 545 Interaction with RNF2. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity p.V545I(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TTCGCGGTGACGTCGGTGATA 0.627000 9 30 0 0 0.008291 0 0 NEDD4 4734 broad.mit.edu 37 15 56141027 56141027 + Missense_Mutation SNP A A C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr15:56141027A>C ENST00000508342.1 - 11 2961 c.2662T>G c.(2662-2664)Tcc>Gcc p.S888A NEDD4_ENST00000435532.3_Missense_Mutation_p.S469A|NEDD4_ENST00000506154.1_Missense_Mutation_p.S872A|NEDD4_ENST00000338963.2_Missense_Mutation_p.S816A P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 888 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity p.S816A(1)|p.S469A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) AGATCATTGGAAGTATCAAGT 0.338000 53 55 0 0 0.014410 0 0 ALMS1 7840 broad.mit.edu 37 2 73746982 73746982 + Missense_Mutation SNP A A G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr2:73746982A>G ENST00000264448.6 + 11 9728 c.9617A>G c.(9616-9618)gAa>gGa p.E3206G ALMS1_ENST00000409009.1_Missense_Mutation_p.E3164G NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3206 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.E3206G(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ATAACAACAGAAAGTCCAGAA 0.383000 3 76 0 0 0.004672 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138805 32138805 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr12:32138805C>T ENST00000312561.4 + 4 5330 c.4916C>T c.(4915-4917)cCa>cTa p.P1639L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.P1639V(1) AAATTATGTCCAGATATCTTA 0.378000 9 33 0 0 0.006214 0 0 PTPRD 5789 broad.mit.edu 37 9 8521531 8521531 + Missense_Mutation SNP G G T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr9:8521531G>T ENST00000381196.4 - 17 1250 c.707C>A c.(706-708)cCa>cAa p.P236Q PTPRD_ENST00000537002.1_Missense_Mutation_p.P233Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.P226Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.P236Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.P226Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P223Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.P223Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.P236Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.P233Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.P236Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.P236Q NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 236 Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P236Q(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGAGAATCTTGGTGGGACACG 0.448000 TSP Lung(15;0.13) 5 43 3.59834e-05 4.36034e-05 0.001168 1 0 SRCAP 10847 broad.mit.edu 37 16 30736029 30736029 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr16:30736029C>T ENST00000262518.4 + 25 5669 c.5284C>T c.(5284-5286)Cca>Tca p.P1762S SRCAP_ENST00000395059.2_Missense_Mutation_p.P1700S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1604S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1762 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.P1762S(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCCAGTGGGcccagccccagc 0.622000 15 12 0 0 0.004007 0 0 DLK1 8788 broad.mit.edu 37 14 101200790 101200790 + Missense_Mutation SNP C C A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr14:101200790C>A ENST00000341267.4 + 5 951 c.709C>A c.(709-711)Ccc>Acc p.P237T DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 237 EGF-like 6. multicellular organismal development extracellular space|integral to membrane|soluble fraction p.P237T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) TCTGTGCAAGCCCGAGTTCAC 0.682000 28 22 1.2476e-16 1.62662e-16 0.006320 1 0 GAL3ST3 89792 broad.mit.edu 37 11 65811095 65811095 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr11:65811095C>T ENST00000312006.4 - 3 460 c.179G>A c.(178-180)cGc>cAc p.R60H GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R60H NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 60 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.R60H(1) kidney(1)|lung(9)|ovary(2)|skin(2) 14 GTGCTTGGGGCGCGGCGGCGA 0.647000 7 10 0 0 0.004482 0 0 CYP17A1 1586 broad.mit.edu 37 10 104597001 104597001 + Silent SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr10:104597001G>A ENST00000369887.3 - 1 289 c.118C>T c.(118-120)Ctg>Ttg p.L40L CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 40 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity p.L40L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) AGGAATGGCAGGCTGCCCACC 0.532000 3 78 0 0 0.004672 0 0 PASD1 139135 broad.mit.edu 37 X 150842574 150842574 + Silent SNP T T A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chrX:150842574T>A ENST00000370357.4 + 15 2336 c.2091T>A c.(2089-2091)tcT>tcA p.S697S NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 697 nucleus signal transducer activity p.S697S(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AAGAGTTGTCTGATTCACTCG 0.532000 22 104 0 0 0.012319 0 0 BTD 686 broad.mit.edu 37 3 15686794 15686794 + Silent SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr3:15686794G>A ENST00000383778.4 + 4 1729 c.1371G>A c.(1369-1371)gaG>gaA p.E457E BTD_ENST00000449107.1_Silent_p.E479E|BTD_ENST00000437172.1_Silent_p.E479E|BTD_ENST00000303498.5_Silent_p.E477E P43251 BTD_HUMAN biotinidase 477 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity p.E477E(1) breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 AAATCACAGAGGCCACGGGGA 0.512000 44 2 0 0 0.010771 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100386 27100386 + Missense_Mutation SNP C C G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr6:27100386C>G ENST00000607124.1 - 1 143 c.144G>C c.(142-144)caG>caC p.Q48H HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.Q48H|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.Q48H P06899 H2B1J_HUMAN histone cluster 1, H2bj 48 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding p.Q48H(1) breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 CAGGGTGGACCTGCTTCAGAA 0.552000 25 221 0 0 0.009535 0 0 PROP1 5626 broad.mit.edu 37 5 177422865 177422865 + Missense_Mutation SNP C C G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr5:177422865C>G ENST00000308304.2 - 1 378 c.70G>C c.(70-72)Gag>Cag p.E24Q NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 24 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E24Q(1) endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTGTCTCTCAGGCAACAGG 0.652000 14 13 0 0 0.018920 0 0 DOCK8 81704 broad.mit.edu 37 9 340238 340238 + Silent SNP C C G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr9:340238C>G ENST00000432829.2 + 14 1708 c.1392C>G c.(1390-1392)ccC>ccG p.P464P DOCK8_ENST00000469391.1_Silent_p.P464P|DOCK8_ENST00000453981.1_Silent_p.P532P NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 532 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.P532P(1)|p.P464P(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCGTGAAACCCTTTCCTGAAA 0.453000 13 80 0 0 0.003163 0 0 DSG4 147409 broad.mit.edu 37 18 28993383 28993383 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr18:28993383C>T ENST00000359747.4 + 15 3034 c.3005C>T c.(3004-3006)aCt>aTt p.T1002I DSG4_ENST00000308128.4_Missense_Mutation_p.T983I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 983 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.T1002I(1)|p.T983I(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTAGCACGACTGAGGGTTGT 0.458000 89 5 0 0 0.014410 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42852432 42852432 + Silent SNP C C A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr21:42852432C>A ENST00000398585.3 - 6 714 c.654G>T c.(652-654)ggG>ggT p.G218G TMPRSS2_ENST00000458356.1_Silent_p.G181G|TMPRSS2_ENST00000332149.5_Silent_p.G181G NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 181 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity p.G181G(2)|p.G218G(1) TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) AGGCCGCCCGCCCGTAGTTCT 0.572000 T """ERG, ETV1, ETV4, ETV5""" prostate 17 20 4.7546e-09 6.04598e-09 0.004007 1 0 MRPS15 64960 broad.mit.edu 37 1 36923551 36923551 + Nonsense_Mutation SNP A A T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:36923551A>T ENST00000373116.5 - 6 578 c.417T>A c.(415-417)taT>taA p.Y139* MRPS15_ENST00000488606.1_5'UTR NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 139 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome p.Y139*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGTTCTTCATAACTGCGGA 0.517000 77 104 0 0 0.014410 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059758 152059758 + Missense_Mutation SNP G G T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:152059758G>T ENST00000368806.1 - 3 464 c.400C>A c.(400-402)Ctt>Att p.L134I NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 134 calcium ion binding p.L134I(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCTGAAGGAAGCATCCTCTTT 0.478000 5 145 2.7689e-08 3.478e-08 0.001984 1 0 IFITM3 10410 broad.mit.edu 37 11 320649 320649 + Silent SNP G G A rs11553885 by1000genomes TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr11:320649G>A ENST00000399808.4 - 1 401 c.165C>T c.(163-165)ccC>ccT p.P55P IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 55 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P55P(5) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGACATGGTCGGGCACGGAGG 0.637000 4 71 0 0 0.001984 0 0 MUC5B 727897 broad.mit.edu 37 11 1262717 1262717 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr11:1262717C>T ENST00000447027.1 + 31 4674 c.4616C>T c.(4615-4617)gCt>gTt p.A1539V MUC5B_ENST00000529681.1_Missense_Mutation_p.A1536V Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1536 7 X Cys-rich subdomain repeats. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.A1536V(1)|p.A1539V(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ATCAGGGCCGCTGGAGGGCAC 0.587000 5 19 0 0 0.014758 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 39 0 0 0.004672 0 0 EGFR 1956 broad.mit.edu 37 7 55259439 55259439 + Missense_Mutation SNP T T G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:55259439T>G ENST00000275493.2 + 21 2674 c.2497T>G c.(2497-2499)Ttg>Gtg p.L833V EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L788V|EGFR_ENST00000454757.2_Missense_Mutation_p.L780V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 833 Protein kinase. L -> V (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L833V(16) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGACCGTCGCTTGGTGCACCG 0.547000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 303 25 0 0 0.014410 0 0 SCNN1A 6337 broad.mit.edu 37 12 6483790 6483790 + Missense_Mutation SNP A A C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr12:6483790A>C ENST00000358945.3 - 1 600 c.160T>G c.(160-162)Tcc>Gcc p.S54A SCNN1A_ENST00000228916.2_Missense_Mutation_p.S54A|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S113A|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S77A|SCNN1A_ENST00000396966.2_Missense_Mutation_p.S54A P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 54 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding p.S54A(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) TCTCGGTAGGAGCGGTGGAAC 0.652000 7 24 0 0 0.003080 0 0 PLCH1 23007 broad.mit.edu 37 3 155200026 155200026 + Silent SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr3:155200026C>T ENST00000460012.1 - 23 4056 c.3699G>A c.(3697-3699)acG>acA p.T1233T PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1271 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.T1233T(1)|p.T1271T(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AAACTGTGTTCGTTGCATGTT 0.468000 30 124 0 0 0.009535 0 0 GATS 352954 broad.mit.edu 37 7 99821621 99821621 + Missense_Mutation SNP A A C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:99821621A>C ENST00000436886.2 - 3 543 c.295T>G c.(295-297)Ttc>Gtc p.F99V GATS_ENST00000543273.1_RNA NM_178831.6 NP_849153.3 Q8NAP1 GATS_HUMAN 99 p.F99V(1) endometrium(2)|large_intestine(2)|lung(4) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGCTGGAGAAGCTGCCACCG 0.607000 7 64 0 0 0.001984 0 0 GNL3L 54552 broad.mit.edu 37 X 54578810 54578810 + Missense_Mutation SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chrX:54578810G>A ENST00000336470.4 + 13 1406 c.1267G>A c.(1267-1269)Gag>Aag p.E423K GNL3L_ENST00000360845.2_Missense_Mutation_p.E423K NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 423 ribosome biogenesis nucleolus GTP binding p.E423K(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 GGAAATGACCGAGGTCTTTGA 0.527000 20 95 0 0 0.014323 0 0 DDX4 54514 broad.mit.edu 37 5 55088620 55088620 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr5:55088620C>T ENST00000505374.1 + 17 1546 c.1454C>T c.(1453-1455)cCa>cTa p.P485L DDX4_ENST00000514278.2_Missense_Mutation_p.P465L|DDX4_ENST00000511853.1_Missense_Mutation_p.P336L|DDX4_ENST00000354991.5_Missense_Mutation_p.P451L|DDX4_ENST00000353507.5_Missense_Mutation_p.P451L NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 485 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding p.P336L(1)|p.P485L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GCAACTTTTCCAGAGGAAATT 0.318000 17 69 0 0 0.006122 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 189 0 0 0.009096 0 0 CCDC106 29903 broad.mit.edu 37 19 56164048 56164048 + Missense_Mutation SNP A A G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr19:56164048A>G ENST00000586790.1 + 5 1683 c.779A>G c.(778-780)aAg>aGg p.K260R CCDC106_ENST00000308964.3_Missense_Mutation_p.K260R|CCDC106_ENST00000591241.1_Missense_Mutation_p.K225R|CCDC106_ENST00000591578.1_Missense_Mutation_p.K260R|CCDC106_ENST00000588740.1_Missense_Mutation_p.K260R Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 260 nucleus p.K260R(1) endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GAGACGCTCAAGAAGGTGCAG 0.667000 6 29 0 0 0.003080 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433139 72433139 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chrX:72433139C>T ENST00000373517.3 - 1 1545 c.1190G>A c.(1189-1191)cGt>cAt p.R397H NAP1L2_ENST00000536638.1_Missense_Mutation_p.R255H NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 397 nucleosome assembly chromatin assembly complex p.R397H(1) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TATGTAAGTACGTAAATTGTG 0.358000 6 70 0 0 0.001168 0 0 USP51 158880 broad.mit.edu 37 X 55513806 55513806 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chrX:55513806C>T ENST00000500968.3 - 2 1649 c.1567G>A c.(1567-1569)Gcc>Acc p.A523T USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 523 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.A523T(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 TCGAATGTGGCACAAGAGCCA 0.522000 11 24 0 0 0.010729 0 0 TPI1 7167 broad.mit.edu 37 12 6978046 6978046 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr12:6978046C>T ENST00000229270.4 + 2 582 c.245C>T c.(244-246)cCt>cTt p.P82L TPI1_ENST00000535434.1_5'UTR|TPI1_ENST00000396705.5_Missense_Mutation_p.P45L|TPI1_ENST00000488464.2_5'UTR NM_001159287.1 NP_001152759.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 45 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity p.P82L(1)|p.P45L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19 TGTGCTCCCCCTACTGCCTAT 0.532000 OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 3 0 0 0.003080 0 0 COBL 23242 broad.mit.edu 37 7 51258724 51258724 + Missense_Mutation SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:51258724G>A ENST00000395542.2 - 4 692 c.508C>T c.(508-510)Cgt>Tgt p.R170C COBL_ENST00000441453.1_Missense_Mutation_p.R170C|COBL_ENST00000395540.2_Missense_Mutation_p.R170C|COBL_ENST00000265136.7_Missense_Mutation_p.R170C O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 170 p.R170C(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GGGCTCACACGCACAACAGCT 0.483000 5 61 0 0 0.001984 0 0 MUC17 140453 broad.mit.edu 37 7 100681373 100681373 + Missense_Mutation SNP C C A rs144624588 TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:100681373C>A ENST00000306151.4 + 3 6740 c.6676C>A c.(6676-6678)Cct>Act p.P2226T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2226 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2226T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACAAGTATGCCTGTCAGCAC 0.502000 14 290 0.00185496 0.00217114 0.016723 1 0 PAK6 56924 broad.mit.edu 37 15 40558063 40558063 + Silent SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr15:40558063G>A ENST00000455577.2 + 5 1137 c.225G>A c.(223-225)gcG>gcA p.A75A PAK6_ENST00000453867.1_Silent_p.A75A|PAK6_ENST00000560346.1_Silent_p.A75A|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000542403.2_Silent_p.A75A|PAK6_ENST00000441369.1_Silent_p.A75A|PAK6_ENST00000260404.4_Silent_p.A75A NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 75 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.A75A(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GGGGCAGCGCGATGCCTGTGG 0.622000 3 9 0 0 0.009096 0 0 YLPM1 56252 broad.mit.edu 37 14 75265095 75265095 + Missense_Mutation SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr14:75265095G>A ENST00000325680.7 + 5 3219 c.3095G>A c.(3094-3096)cGg>cAg p.R1032Q YLPM1_ENST00000238571.3_Missense_Mutation_p.R837Q|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 837 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.R837Q(1)|p.R1032Q(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAAGACACACGGGATAAAGGT 0.493000 23 77 0 0 0.012319 0 0 ASAP3 55616 broad.mit.edu 37 1 23763945 23763945 + Missense_Mutation SNP G G T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:23763945G>T ENST00000336689.3 - 13 1167 c.1123C>A c.(1123-1125)Cag>Aag p.Q375K ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.Q366K NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 375 PH. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding p.Q375K(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 TCCTCTGCCTGAAAGTGGTAC 0.667000 8 66 3.86212e-05 4.62556e-05 0.008291 1 0 RASGEF1C 255426 broad.mit.edu 37 5 179545863 179545863 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr5:179545863C>T ENST00000393371.2 - 8 1207 c.911G>A c.(910-912)gGc>gAc p.G304D RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G304D|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G153D|RASGEF1C_ENST00000519883.1_5'UTR Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 304 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity p.G304D(2) breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATGTTCATGCCGGCTGGAAG 0.627000 4 69 0 0 0.009096 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 39 0 0 0.004672 0 0 OR1L1 26737 broad.mit.edu 37 9 125424498 125424498 + Missense_Mutation SNP C C A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr9:125424498C>A ENST00000373686.1 + 1 654 c.654C>A c.(652-654)ttC>ttA p.F218L Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F218L(1) breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 AGCTCATCTTCTGTGCCTCAA 0.428000 103 142 2.94851e-48 3.94411e-48 0.014410 1 0 BCAS1 8537 broad.mit.edu 37 20 52645352 52645352 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr20:52645352C>T ENST00000395961.3 - 4 468 c.302G>A c.(301-303)cGg>cAg p.R101Q BCAS1_ENST00000371435.2_Missense_Mutation_p.R101Q|BCAS1_ENST00000371440.3_Missense_Mutation_p.R101Q|BCAS1_ENST00000411563.1_Missense_Mutation_p.R4Q NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 101 cytoplasm protein binding p.R101Q(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGGTACAGGCCGAGAGAGCAT 0.512000 17 106 0 0 0.004990 0 0 FANCM 57697 broad.mit.edu 37 14 45642257 45642257 + Splice_Site SNP G G C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr14:45642257G>C ENST00000267430.5 + 13 2245 c.e13-1 FANCM_ENST00000542564.2_Splice_Site NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.?(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AAATAATTAAGGCTCAAGAAT 0.313000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 92 0 0 0.004482 0 0 H3F3B 3021 broad.mit.edu 37 17 73774708 73774708 + Missense_Mutation SNP A A C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr17:73774708A>C ENST00000254810.4 - 4 511 c.379T>G c.(379-381)Ttg>Gtg p.L127V H3F3B_ENST00000586607.1_Missense_Mutation_p.L127V|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000589599.1_Missense_Mutation_p.L127V|H3F3B_ENST00000592643.1_Missense_Mutation_p.S102R|H3F3B_ENST00000587560.1_Missense_Mutation_p.L127V NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 127 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding p.L127V(1) large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGCGAGCCAACTGGATGTCT 0.463000 6 134 0 0 0.001984 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271322 26271322 + Silent SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr6:26271322G>A ENST00000305910.3 - 1 290 c.291C>T c.(289-291)tgC>tgT p.C97C NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 97 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.C97C(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 AGTAGGCCTCGCAGGCCTCCT 0.572000 11 97 0 0 0.010729 0 0 MYCBP2 23077 broad.mit.edu 37 13 77655572 77655572 + Missense_Mutation SNP C C T rs150342167 TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr13:77655572C>T ENST00000407578.2 - 65 11674 c.11408G>A c.(11407-11409)cGa>cAa p.R3803Q MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3765Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3765Q|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3765 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.R3765Q(1)|p.R3803Q(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCCAAGATCTCGGGAATTGTC 0.383000 31 329 0 0 0.021022 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138804 32138804 + Missense_Mutation SNP C C G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr12:32138804C>G ENST00000312561.4 + 4 5329 c.4915C>G c.(4915-4917)Cca>Gca p.P1639A KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.P1639V(1) TAAATTATGTCCAGATATCTT 0.383000 9 36 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34049273 34049273 + Silent SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:34049273C>T ENST00000373381.4 - 47 7385 c.7209G>A c.(7207-7209)gaG>gaA p.E2403E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2405 CUB 14. integral to membrane|plasma membrane protein binding p.E2405E(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATATTGCTTCTCGCTGAGGA 0.502000 117 73 0 0 0.014410 0 0 OR2M5 127059 broad.mit.edu 37 1 248308638 248308638 + Silent SNP C C A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:248308638C>A ENST00000366476.1 + 1 189 c.189C>A c.(187-189)ctC>ctA p.L63L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L63L(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTTCCTCCTCAGTCAACTGT 0.517000 8 394 0.00621372 0.00719115 0.006214 1 0 FAM66D 100132923 broad.mit.edu 37 8 11986451 11986451 + RNA SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr8:11986451C>T ENST00000434078.2 + 0 608 NR_027425.1 GCACTTGGGACGATGACACAT 0.557000 3 9 0 0 0.004672 0 0 PTPN9 5780 broad.mit.edu 37 15 75798092 75798092 + Silent SNP T T G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr15:75798092T>G ENST00000306726.2 - 7 1404 c.892A>C c.(892-894)Agg>Cgg p.R298R PTPN9_ENST00000564970.1_5'UTR NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 298 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding p.R298P(1) central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCTTTTGCCTGGCATTAACA 0.478000 14 68 0 0 0.003163 0 0 MST1L 11223 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 12 45 0 0 0.013537 0 0 GPR98 84059 broad.mit.edu 37 5 90106986 90106986 + Silent SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr5:90106986C>T ENST00000405460.2 + 74 16005 c.15909C>T c.(15907-15909)ttC>ttT p.F5303F GPR98_ENST00000425867.2_Silent_p.F964F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5303 Calx-beta 34. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.F5303F(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCCTTATATTCCTAGATGGAG 0.408000 19 14 0 0 0.007413 0 0 PCDH8 5100 broad.mit.edu 37 13 53422137 53422137 + Silent SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr13:53422137G>A ENST00000377942.3 - 1 638 c.435C>T c.(433-435)tcC>tcT p.S145S PCDH8_ENST00000338862.4_Silent_p.S145S NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 145 Cadherin 2. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.S145S(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCGCACCCTCGGACACCTCTA 0.711000 11 45 0 0 0.013537 0 0 LMO2 4005 broad.mit.edu 37 11 33880984 33880984 + Missense_Mutation SNP C C G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr11:33880984C>G ENST00000257818.2 - 6 1431 c.602G>C c.(601-603)gGt>gCt p.G201A LMO2_ENST00000395833.3_Missense_Mutation_p.G132A NM_005574.3 NP_005565.2 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 132 multicellular organismal development nucleus protein binding|zinc ion binding p.G132A(1) NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 GTATCTGTCACCTACACAGAA 0.488000 T TRD@ T-ALL 38 13 0 0 0.006999 0 0 CD1A 909 broad.mit.edu 37 1 158224874 158224874 + Splice_Site SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:158224874G>A ENST00000289429.5 + 2 592 c.58_splice c.e2-1 p.G20_splice NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 20 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.G20E(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTTGTCGCAGGGCTCAAGGAG 0.483000 13 143 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179441553 179441553 + Missense_Mutation SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr2:179441553G>A ENST00000589042.1 - 325 69642 c.69418C>T c.(69418-69420)Cct>Tct p.P23140S TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14200S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20572S|TTN_ENST00000591111.1_Missense_Mutation_p.P21499S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14075S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14267S|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21499 Ig-like 118. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P20572S(1)|p.P14200S(1)|p.P14267S(1)|p.P20570S(1)|p.P14075S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGGGCCAGGGGGACCTGAA 0.433000 34 32 0 0 0.010818 0 0 PTGS1 5742 broad.mit.edu 37 9 125145998 125145998 + Missense_Mutation SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr9:125145998G>A ENST00000362012.2 + 8 978 c.973G>A c.(973-975)Gag>Aag p.E325K PTGS1_ENST00000540753.1_Missense_Mutation_p.E300K|PTGS1_ENST00000223423.4_Missense_Mutation_p.E325K|PTGS1_ENST00000373698.5_Missense_Mutation_p.E216K NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 325 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity p.E325K(1) large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CTGGGGCGATGAGCAGCTTTT 0.612000 27 1 0 0 0.005443 0 0 UCHL5 51377 broad.mit.edu 37 1 192998323 192998323 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:192998323C>T ENST00000367452.4 - 6 949 c.179G>A c.(178-180)gGa>gAa p.G60E UCHL5_ENST00000367451.4_Missense_Mutation_p.G184E|UCHL5_ENST00000367455.3_Missense_Mutation_p.G184E|UCHL5_ENST00000367454.1_Missense_Mutation_p.G184E|UCHL5_ENST00000530098.2_Missense_Mutation_p.G60E|UCHL5_ENST00000367448.1_Missense_Mutation_p.G184E|UCHL5_ENST00000367449.1_Missense_Mutation_p.G184E Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 184 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.G184E(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 ATCAATCGGTCCTTCTCTTAA 0.368000 111 34 0 0 0.014410 0 0 PTPN9 5780 broad.mit.edu 37 15 75798091 75798091 + Missense_Mutation SNP C C G TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr15:75798091C>G ENST00000306726.2 - 7 1405 c.893G>C c.(892-894)aGg>aCg p.R298T PTPN9_ENST00000564970.1_5'UTR NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 298 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding p.R298P(1) central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGCTTTTGCCTGGCATTAAC 0.478000 13 69 0 0 0.020292 0 0 FOXO4 4303 broad.mit.edu 37 X 70321392 70321392 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chrX:70321392C>T ENST00000374259.3 + 2 1644 c.1312C>T c.(1312-1314)Cca>Tca p.P438S FOXO4_ENST00000341558.3_Missense_Mutation_p.P383S NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 438 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P438S(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) AGCACCACCTCCAGTCATGGC 0.607000 10 44 0 0 0.013537 0 0 COL27A1 85301 broad.mit.edu 37 9 117062395 117062395 + Missense_Mutation SNP G G A TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr9:117062395G>A ENST00000356083.3 + 50 5021 c.4630G>A c.(4630-4632)Gga>Aga p.G1544R NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1544 Collagen-like 15.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.G1544R(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 AGGTCTCTTCGGACCCAAGGT 0.532000 7 40 0 0 0.003080 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133292 91133292 + Missense_Mutation SNP G G C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chrX:91133292G>C ENST00000373094.1 + 2 2898 c.2053G>C c.(2053-2055)Gtt>Ctt p.V685L PCDH11X_ENST00000361655.2_Missense_Mutation_p.V685L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V685L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V685L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 685 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding p.V685L(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TTATGAATTGGTTCTACCGTC 0.428000 5 148 0 0 0.001168 0 0 ZNF568 374900 broad.mit.edu 37 19 37441720 37441720 + Missense_Mutation SNP G G C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr19:37441720G>C ENST00000415168.1 + 5 1849 c.1473G>C c.(1471-1473)gaG>gaC p.E491D ZNF568_ENST00000333987.7_Missense_Mutation_p.E555D|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E555D(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATACTGGAGAGAAACCATTCA 0.378000 25 27 0 0 0.021523 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 7 380 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155307999 155308000 + Frame_Shift_Ins INS - - T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:155307999_155308000insT ENST00000368346.3 - 27 9337_9338 c.8698_8699insA c.(8698-8700)agafs p.R2900fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2900 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.T2895fs*44(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACTTTCCTCTGTTTTTTTTTCA 0.520 7 231 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232564299 232564300 + Frame_Shift_Ins INS - - C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr1:232564299_232564300insC ENST00000366630.1 - 16 4625_4626 c.4267_4268insG c.(4267-4269)gatfs p.D1423fs SIPA1L2_ENST00000308942.4_Frame_Shift_Ins_p.D497fs|SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.D1423fs Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1423 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GACATCCATCTCACTATACATC 0.401 83 6 --- --- --- --- AQP12B 653437 broad.mit.edu 37 2 241621800 241621800 + Frame_Shift_Del DEL C C - TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr2:241621800delC ENST00000407834.3 - 1 517 c.455delG c.(454-456)acfs p.S153fs NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 141 integral to membrane transporter activity p.S152fs*24(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) 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) CAGGGCCGAGCTGCAGCTCTG 0.697 6 5 --- --- --- --- KLB 152831 broad.mit.edu 37 4 39436044 39436049 + In_Frame_Del DEL AGTTGT AGTTGT - TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr4:39436044_39436049delAGTTGT ENST00000257408.4 + 2 1137_1142 c.1040_1045delAGTTGT c.(1039-1047)atc>a p.KLF347del NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 347 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 ATGAGAAAGAAGTTGTTCTCCGTTCT 0.451 39 47 --- --- --- --- LOC646762 646762 broad.mit.edu 37 7 29720482 29720483 + RNA INS - - G rs70980562 TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:29720482_29720483insG ENST00000426767.1 - 0 366 NR_024278.1 CTCTCAGATCAGTGATGCCCTG 0.485 16 41 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242490 55242507 + In_Frame_Del DEL AAAGCCAACAAGGAAATC AAAGCCAACAAGGAAATC - rs121913463 TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:55242490_55242507delAAAGCCAACAAGGAAATC ENST00000275493.2 + 19 2437_2454 c.2260_2277delAAAGCCAACAAGGAAATC c.(2260-2277)del p.KANKEI754del EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KANKEI701del|EGFR_ENST00000455089.1_In_Frame_Del_p.KANKEI709del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 754 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(2)|p.K754E(2)|p.L747_K754del(2)|p.T751_I759del(2)|p.L747_K754>ST(1)|p.A755A(1)|p.T751_I759>REA(1)|p.P753_I759del(1)|p.K754R(1)|p.E758G(1)|p.K754K(1)|p.K757>NK(1)|p.K754I(1)|p.K754A(1)|p.L747_K754>N(1)|p.I759N(1)|p.A750_E758del(1)|p.A750_K754del(1)|p.N756Y(1)|p.K757R(1)|p.N756S(1)|p.E758D(1)|p.T751_E758del(1)|p.K757M(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGA 0.500 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 117 56 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 6 13 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 9 46 --- --- --- --- KLC2 64837 broad.mit.edu 37 11 66034357 66034358 + Frame_Shift_Ins INS - - TC TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr11:66034357_66034358insTC ENST00000417856.1 + 16 2042_2043 c.1799_1800insTC c.(1798-1800)gctfs p.A600fs KLC2_ENST00000316924.5_Frame_Shift_Ins_p.A600fs|KLC2_ENST00000421552.1_Frame_Shift_Ins_p.A523fs|KLC2_ENST00000394065.2_3'UTR|KLC2_ENST00000394066.2_Frame_Shift_Ins_p.A523fs|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Frame_Shift_Ins_p.A600fs NM_001134775.1 NP_001128247.1 Q9H0B6 KLC2_HUMAN kinesin light chain 2 600 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 GGAGGCACAGGTCTCTCTGACA 0.663 8 79 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr14:20296055_20296056insT ENST00000315947.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.W150fs NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 14 232 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579526 7579526 + Frame_Shift_Del DEL A A - TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr17:7579526delA ENST00000420246.2 - 4 293 c.161delT c.(160-162)tcfs p.F54fs TP53_ENST00000455263.2_Frame_Shift_Del_p.F54fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F54fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F54fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F54fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F54fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 54 Interaction with HRMT1L2. F -> L (in a sporadic cancer; somatic mutation).|F -> Y (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTTCAGTGAACCATTGTTC 0.592 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 176 11 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58889651 58889662 + RNA DEL CATTCTCCCATT CATTCTCCCATT - rs117834183 by1000genomes TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf7462a2-394f-4838-bcb6-4d0126fa48b1 cd2253b4-6c44-45fc-8300-61fb5d23a3bd g.chr20:58889651_58889662delCATTCTCCCATT ENST00000432910.1 + 0 332 NR_046099.1 tccatccatccattctcccattcatccatcct 0.538 4 3 --- --- --- ---