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 TMC1 117531 broad.mit.edu 37 9 75435847 75435847 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:75435847G>T ENST00000297784.5 + 20 2393 c.1853G>T c.(1852-1854)tGc>tTc p.C618F TMC1_ENST00000396237.3_Missense_Mutation_p.C618F|TMC1_ENST00000340019.3_Missense_Mutation_p.C618F|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 618 sensory perception of sound integral to membrane p.C618F(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GCCGTTATGTGCTGCAATGTT 0.502000 10 133 0.000442599 0.000483143 1 1 0 HECW2 57520 broad.mit.edu 37 2 197298051 197298051 + Missense_Mutation SNP C C T rs151108819 byFrequency TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:197298051C>T ENST00000260983.2 - 2 279 c.97G>A c.(97-99)Gcc>Acc p.A33T NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 33 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.A33T(2) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAGCTCTGGGCGGCAAGGCTC 0.597000 9 46 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142264928 142264928 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:142264928T>G ENST00000378004.3 + 5 805 c.450T>G c.(448-450)aaT>aaG p.N150K ARHGAP26_ENST00000274498.4_Missense_Mutation_p.N150K NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 150 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding p.N150K(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACACTTGAATTTGTCTTCCA 0.338000 10 43 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23793962 23793962 + Nonsense_Mutation SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:23793962A>T ENST00000354639.3 + 10 1557 c.1093A>T c.(1093-1095)Aaa>Taa p.K365* STK31_ENST00000433467.2_Nonsense_Mutation_p.K388*|STK31_ENST00000428484.1_Nonsense_Mutation_p.K365*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Nonsense_Mutation_p.K388* NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 388 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.K388*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCGTTTCGGAAAAGACCTTTC 0.368000 8 123 0 0 1 0 0 FAM178A 55719 broad.mit.edu 37 10 102678196 102678196 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:102678196C>T ENST00000238961.3 + 4 1119 c.971C>T c.(970-972)tCa>tTa p.S324L FAM178A_ENST00000370271.3_Missense_Mutation_p.S324L|FAM178A_ENST00000370269.3_Missense_Mutation_p.S324L NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 324 p.S324L(1) GAACCTACTTCAGGTAGAATC 0.299000 20 141 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725167 140725167 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:140725167G>A ENST00000253812.6 + 1 1567 c.1567G>A c.(1567-1569)Gag>Aag p.E523K PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.E523K(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGACTACGAGCAATTTAG 0.562000 16 109 0 0 1 0 0 TMEM19 55266 broad.mit.edu 37 12 72091178 72091178 + Nonsense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:72091178C>A ENST00000266673.5 + 4 1095 c.501C>A c.(499-501)taC>taA p.Y167* TMEM19_ENST00000549735.1_Nonsense_Mutation_p.Y167*|RP11-293I14.2_ENST00000548802.1_3'UTR NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 167 integral to membrane p.Y167*(1) large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CCAAGCAGTACTCCGCTTCCT 0.512000 19 85 2.32416e-17 3.19572e-17 1 1 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725928 130725928 + RNA SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:130725928T>A ENST00000412425.1 - 0 690 NR_036537.1 TAGCTGAGCCTGACCACTTGT 0.403000 4 63 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687143 68687143 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:68687143C>A ENST00000361320.4 + 2 1047 c.469C>A c.(469-471)Cgg>Agg p.R157R CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 157 integral to membrane p.R157R(2) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TCGGGGCTTGCGGAAGCTGCT 0.458000 16 115 3.32936e-07 4.13999e-07 1 1 0 RAB19 401409 broad.mit.edu 37 7 140110849 140110849 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:140110849G>T ENST00000275874.5 + 3 476 c.278G>T c.(277-279)tGg>tTg p.W93L RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.W93L(1) breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) CCCCAAATCTGGACCAAGTGA 0.502000 20 111 4.96729e-08 6.3993e-08 1 1 0 TMEM244 253582 broad.mit.edu 37 6 130164711 130164711 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:130164711T>G ENST00000438392.1 - 4 337 c.157A>C c.(157-159)Aaa>Caa p.K53Q TMEM244_ENST00000368143.1_Missense_Mutation_p.K53Q Q5VVB8 CF191_HUMAN transmembrane protein 244 53 integral to membrane p.K53Q(1) GGATTTGTTTTGAAATCAAAT 0.323000 4 119 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7691039 7691039 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:7691039C>T ENST00000358368.4 - 5 677 c.640G>A c.(640-642)Ggc>Agc p.G214S XAB2_ENST00000534844.1_Missense_Mutation_p.G211S NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 214 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding p.G211S(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 TTGGACTTGCCGGCCTTAGAC 0.642000 Direct reversal of damage;Nucleotide excision repair (NER) 3 108 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629646 9629646 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:9629646G>T ENST00000382492.2 - 1 817 c.499C>A c.(499-501)Caa>Aaa p.Q167K CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 167 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity p.Q167K(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TCTTCTTTTTGAATTGTGGCA 0.358000 5 52 3.59834e-05 4.18343e-05 1 1 0 TRBV25-1 28562 broad.mit.edu 37 7 142378624 142378624 + RNA SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:142378624C>T ENST00000390398.3 + 0 53 TATCAGGCTCCTCTGCTACGT 0.468000 3 8 0 0 1 0 0 S1PR2 9294 broad.mit.edu 37 19 10334757 10334757 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:10334757G>A ENST00000590320.1 - 2 935 c.825C>T c.(823-825)gcC>gcT p.A275A NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 275 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity p.A275A(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGGTGGAGACGGCGAAAAAGT 0.632000 5 28 0 0 1 0 0 MSRB2 22921 broad.mit.edu 37 10 23408331 23408331 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:23408331G>T ENST00000376510.3 + 4 498 c.395G>T c.(394-396)cGt>cTt p.R132L MSRB2_ENST00000468633.1_3'UTR NM_012228.3 NP_036360.3 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 132 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R132L(1) endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 9 L-Methionine(DB00134) ATCCTGAGACGTCTGGATACC 0.517000 8 73 0.00448238 0.00478344 1 1 0 ZNF486 90649 broad.mit.edu 37 19 20308637 20308637 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:20308637C>T ENST00000335117.8 + 4 1175 c.1118C>T c.(1117-1119)aCt>aTt p.T373I CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T373I(1)|p.T367I(1) endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 ATAATTCATACTGGAGAGAAA 0.433000 8 49 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129125534 129125534 + Missense_Mutation SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:129125534T>C ENST00000249344.2 + 21 2409 c.2369T>C c.(2368-2370)gTg>gCg p.V790A NM_020704.2 NP_065755.1 striatin interacting protein 2 p.V790A(1) TTTTCACCTGTGGATAACTGC 0.502000 14 66 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89811676 89811676 + Nonsense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:89811676G>T ENST00000310775.7 + 10 888 c.802G>T c.(802-804)Gaa>Taa p.E268* FANCI_ENST00000300027.8_Nonsense_Mutation_p.E268* NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 268 cell cycle|DNA repair nucleoplasm protein binding p.E268*(2) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TCGTCATGTGGAAGGCACCAT 0.418000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 150 8.10497e-08 1.03483e-07 1 1 0 STK11IP 114790 broad.mit.edu 37 2 220476447 220476447 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:220476447C>T ENST00000456909.1 + 18 2316 c.2226C>T c.(2224-2226)gcC>gcT p.A742A STK11IP_ENST00000295641.10_Silent_p.A753A Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 753 protein localization cytoplasm protein kinase binding p.A753A(1)|p.A742A(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCCGTCTGCCAGCCCTGTCT 0.627000 4 49 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679976 100679976 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:100679976C>A ENST00000306151.4 + 3 5343 c.5279C>A c.(5278-5280)cCg>cAg p.P1760Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1760 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P1760Q(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) AGCACCACGCCGGTACTCAGT 0.507000 22 316 9.04412e-07 1.11492e-06 1 1 0 TPSAB1 7177 broad.mit.edu 37 16 1291244 1291244 + Missense_Mutation SNP A A G rs150845192 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:1291244A>G ENST00000461509.2 + 2 367 c.173A>G c.(172-174)cAc>cGc p.H58R TPSAB1_ENST00000338844.3_Missense_Mutation_p.H51R P20231 TRYB2_HUMAN tryptase alpha/beta 1 51 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity p.H51R(1) NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) CTGAGAGTCCACGGCCCATAC 0.711000 5 71 0 0 1 0 0 NR6A1 2649 broad.mit.edu 37 9 127302372 127302372 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:127302372G>C ENST00000487099.2 - 5 693 c.536C>G c.(535-537)tCc>tGc p.S179C NR6A1_ENST00000344523.4_Missense_Mutation_p.S179C|NR6A1_ENST00000373584.3_Missense_Mutation_p.S175C|NR6A1_ENST00000416460.2_Missense_Mutation_p.S175C NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 179 Sufficient for interaction with UIMC1 (By similarity). cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.S179C(1) NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GTTCCCAGGGGAACTGTGGTC 0.517000 18 93 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30312666 30312666 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:30312666T>A ENST00000262643.3 + 8 926 c.647T>A c.(646-648)gTg>gAg p.V216E CCNE1_ENST00000357943.5_Missense_Mutation_p.V173E|CCNE1_ENST00000444983.2_Missense_Mutation_p.V201E NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 216 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity p.V216E(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) TTTGCGTATGTGACAGATGGA 0.388000 A serous ovarian 6 55 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72732960 72732960 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:72732960C>A ENST00000333149.2 - 4 787 c.587G>T c.(586-588)gGg>gTg p.G196V TRIM50_ENST00000453152.1_Missense_Mutation_p.G196V NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 196 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding p.G196V(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 ACCCCCTATCCCCTCCAGGCA 0.667000 8 104 0.000274275 0.000304041 1 1 0 TRIM10 10107 broad.mit.edu 37 6 30128630 30128630 + Silent SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:30128630G>T ENST00000449742.2 - 1 81 c.6C>A c.(4-6)gcC>gcA p.A2A TRIM10_ENST00000376704.3_Silent_p.A2A NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 2 cytoplasm zinc ion binding p.A2A(1) ovary(1) 1 AGGCAGCAGAGGCCATGCTGG 0.602000 5 21 1.024e-07 1.29586e-07 1 1 0 CD1D 912 broad.mit.edu 37 1 158153922 158153922 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:158153922C>T ENST00000368171.3 + 7 1489 c.990C>T c.(988-990)tcC>tcT p.S330S NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 330 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding p.S330S(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CTCACAGTTCCTATCAGGGCG 0.517000 3 110 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65021068 65021068 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:65021068C>A ENST00000262138.3 + 3 399 c.397C>A c.(397-399)Cgc>Agc p.R133S NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 133 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 activity p.R133S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GATCTACAGCCGCAAGAACAA 0.672000 4 75 0.000602214 0.000652399 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 53 0 0 1 0 0 DNAJC4 3338 broad.mit.edu 37 11 63999376 63999376 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:63999376G>A ENST00000321685.3 + 3 585 c.120G>A c.(118-120)ggG>ggA p.G40G RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_Silent_p.G40G|DNAJC4_ENST00000355040.4_Silent_p.G40G|RP11-783K16.14_ENST00000539963.1_RNA NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 40 J. protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding p.G40G(1) endometrium(1)|lung(1)|prostate(1) 3 AACTGTTGGGGGTGCATCCTG 0.552000 7 55 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206325297 206325297 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:206325297G>A ENST00000361052.3 + 5 655 c.537G>A c.(535-537)caG>caA p.Q179Q CTSE_ENST00000360218.2_Silent_p.Q174Q|CTSE_ENST00000432969.2_Silent_p.Q99Q|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000358184.2_Silent_p.Q174Q P14091 CATE_HUMAN cathepsin E 179 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity p.Q174Q(2) endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) AGCCAGGCCAGACCTTTGTGG 0.532000 3 57 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 39947886 39947886 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:39947886C>T ENST00000308666.3 - 10 2186 c.2051G>A c.(2050-2052)cGc>cAc p.R684H NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 684 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding p.R684H(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TTGTTCAAAGCGCCAACCTCC 0.348000 6 84 0 0 1 0 0 TMEM234 56063 broad.mit.edu 37 1 32682936 32682936 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:32682936C>A ENST00000373593.1 - 4 272 c.252G>T c.(250-252)gtG>gtT p.V84V TMEM234_ENST00000344461.3_Silent_p.V84V|TMEM234_ENST00000309777.6_Silent_p.V84V|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000545122.1_Silent_p.V84V Q8WY98 TM234_HUMAN transmembrane protein 234 84 integral to membrane p.V84V(1) kidney(2)|lung(3) 5 TACAGATGGGCACAGCCAGGG 0.453000 7 66 0.000157383 0.000177211 1 1 0 ZNF155 7711 broad.mit.edu 37 19 44495759 44495759 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:44495759G>A ENST00000270014.2 + 3 203 c.75G>A c.(73-75)ctG>ctA p.L25L ZNF155_ENST00000590615.1_Silent_p.L25L|ZNF155_ENST00000407951.2_Silent_p.L36L NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 25 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D26N(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TGGGGCTGCTGGACCCTGCCC 0.517000 54 180 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39552755 39552755 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:39552755G>C ENST00000251645.2 - 3 557 c.505C>G c.(505-507)Ctg>Gtg p.L169V NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 169 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton p.L169V(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) CACAGGGTCAGCTCATCCAGG 0.597000 6 54 0 0 1 0 0 EMC1 23065 broad.mit.edu 37 1 19545844 19545844 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:19545844T>A ENST00000477853.1 - 23 2977 c.2935A>T c.(2935-2937)Act>Tct p.T979S EMC1_ENST00000375199.3_Missense_Mutation_p.T978S|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.T957S|EMC1_ENST00000480380.1_5'UTR NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 p.T979S(1) AGTCTCTTAGTGATCATGGTG 0.498000 9 41 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41245544 41245544 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:41245544G>A ENST00000309486.4 - 9 2143 c.1116C>T c.(1114-1116)ctC>ctT p.L372L BRCA1_ENST00000357654.3_Silent_p.L668L|BRCA1_ENST00000354071.3_Silent_p.L668L|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Silent_p.L621L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Silent_p.L668L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Silent_p.L668L NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 668 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.L668L(1) NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TACCTTCCATGAGTTGTAGGT 0.398000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 13 93 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 20 2.56e-06 3.12889e-06 1 1 0 SPG11 80208 broad.mit.edu 37 15 44955626 44955626 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:44955626C>A ENST00000261866.7 - 1 236 c.220G>T c.(220-222)Ggc>Tgc p.G74C SPG11_ENST00000559193.1_Missense_Mutation_p.G74C|SPG11_ENST00000558319.1_Missense_Mutation_p.G74C|SPG11_ENST00000535302.2_Missense_Mutation_p.G74C|SPG11_ENST00000427534.2_Missense_Mutation_p.G74C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 74 cell death cytosol|integral to membrane|nucleus protein binding p.G74C(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CGACCCCCGCCCCGGCTGCCA 0.701000 3 10 0.00909568 0.00949403 1 1 0 OLFM4 10562 broad.mit.edu 37 13 53624329 53624329 + Missense_Mutation SNP G G A rs144683972 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr13:53624329G>A ENST00000219022.2 + 5 1034 c.956G>A c.(955-957)cGa>cAa p.R319Q NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 319 Olfactomedin-like. cell adhesion extracellular space p.R319Q(1) breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ATAAATGCTCGAGAGTTGCGG 0.433000 4 88 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44570427 44570427 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:44570427A>G ENST00000591793.1 + 7 859 c.776A>G c.(775-777)aAt>aGt p.N259S ZNF223_ENST00000434772.3_Missense_Mutation_p.N149S Q9UK11 ZN223_HUMAN zinc finger protein 223 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N149S(1) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) AAACCTTCCAATTGTGGGAAG 0.448000 4 150 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110891 55110891 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:55110891C>A ENST00000314721.2 + 1 265 c.215C>A c.(214-216)tCc>tAc p.S72Y NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72Y(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GCCATATATTCCACTGCCATG 0.443000 43 155 6.61955e-31 9.19025e-31 1 1 0 LRRC4B 94030 broad.mit.edu 37 19 51022162 51022162 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:51022162G>A ENST00000599957.1 - 3 1005 c.808C>T c.(808-810)Cgc>Tgc p.R270C LRRC4B_ENST00000389201.3_Missense_Mutation_p.R270C Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 270 cell junction|integral to membrane|presynaptic membrane p.R270C(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AAGGCGTTGCGCTCGATGGTG 0.657000 15 56 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831476 58831476 + Missense_Mutation SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr14:58831476T>C ENST00000355431.3 + 20 3042 c.2669T>C c.(2668-2670)aTt>aCt p.I890T ARID4A_ENST00000431317.2_Missense_Mutation_p.I890T|ARID4A_ENST00000395168.3_Missense_Mutation_p.I890T|ARID4A_ENST00000348476.3_Missense_Mutation_p.I890T NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 890 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity p.I890T(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGTGATTGTATTGGATCTGAG 0.353000 3 38 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141101 143141101 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:143141101C>A ENST00000332690.1 + 1 556 c.556C>A c.(556-558)Cgg>Agg p.R186R EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 186 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.R186R(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CGATAGCATACGGAGCTACTG 0.398000 23 145 3.08376e-08 4.04567e-08 1 1 0 KDELR2 11014 broad.mit.edu 37 7 6505922 6505922 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:6505922G>A ENST00000258739.4 - 4 568 c.384C>T c.(382-384)tcC>tcT p.S128S DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Intron NM_006854.3 NP_006845.1 P33947 ERD22_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 128 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity p.S128S(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GGATAGCCACGGACTCCAGGT 0.542000 9 58 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809322 5809322 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:5809322G>T ENST00000317078.1 - 1 724 c.725C>A c.(724-726)aCc>aAc p.T242N TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T242N(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGCAGTGCAGGTGCTGAAGGC 0.473000 8 60 0.000157383 0.000177211 1 1 0 CHDC2 286464 broad.mit.edu 37 X 36103615 36103615 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chrX:36103615C>A ENST00000378660.1 + 5 789 c.601C>A c.(601-603)Caa>Aaa p.Q201K CHDC2_ENST00000313548.4_Missense_Mutation_p.Q201K calponin homology domain containing 2 p.Q201K(1) AAGGGTAATTCAACTCCATTT 0.378000 12 30 2.10051e-16 2.86069e-16 1 1 0 CPED1 79974 broad.mit.edu 37 7 120704319 120704319 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:120704319C>G ENST00000310396.5 + 5 1035 c.568C>G c.(568-570)Cca>Gca p.P190A CPED1_ENST00000423795.1_5'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.P190A NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.P190A(1) AATACAGCAGCCACTTTGCAG 0.393000 6 61 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44495760 44495760 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:44495760G>A ENST00000270014.2 + 3 204 c.76G>A c.(76-78)Gac>Aac p.D26N ZNF155_ENST00000590615.1_Missense_Mutation_p.D26N|ZNF155_ENST00000407951.2_Missense_Mutation_p.D37N NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 26 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D26N(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GGGGCTGCTGGACCCTGCCCA 0.517000 56 182 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97327418 97327418 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:97327418G>T ENST00000328504.3 + 2 392 c.125G>T c.(124-126)tGt>tTt p.C42F SPATA8_ENST00000558553.1_Start_Codon_SNP_p.M1I NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 42 p.C42F(1) large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GCCATGACATGTCCCTGCGGC 0.592000 12 67 9.31168e-06 1.11897e-05 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158238861 158238861 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:158238861C>G ENST00000296526.7 + 5 1043 c.718C>G c.(718-720)Ctg>Gtg p.L240V GRIA2_ENST00000393815.2_Missense_Mutation_p.L193V|GRIA2_ENST00000264426.9_Missense_Mutation_p.L240V|GRIA2_ENST00000449365.1_Missense_Mutation_p.L193V|GRIA2_ENST00000507898.1_Missense_Mutation_p.L193V NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 240 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.L240V(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CATTGCAAATCTGGTAGGTGA 0.249000 4 32 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89811675 89811675 + Silent SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:89811675G>C ENST00000310775.7 + 10 887 c.801G>C c.(799-801)gtG>gtC p.V267V FANCI_ENST00000300027.8_Silent_p.V267V NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 267 cell cycle|DNA repair nucleoplasm protein binding p.E268*(2) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCGTCATGTGGAAGGCACCA 0.413000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 150 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971611 57971611 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:57971611G>T ENST00000302592.6 - 1 42 c.43C>A c.(43-45)Cat>Aat p.H15N NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H15N(1) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TTTTCTTGATGCATATTTCTG 0.413000 17 95 1.02788e-11 1.37371e-11 1 1 0 VENTX 27287 broad.mit.edu 37 10 135053498 135053498 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:135053498G>A ENST00000325980.9 + 3 976 c.465G>A c.(463-465)ctG>ctA p.L155L NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 155 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L155L(1) NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) ACCCCCAGCTGCACAGCCCCT 0.562000 13 77 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113702712 113702712 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:113702712C>T ENST00000003302.4 - 8 831 c.763G>A c.(763-765)Gat>Aat p.D255N USP28_ENST00000542033.1_Intron|USP28_ENST00000545540.1_Missense_Mutation_p.D130N|USP28_ENST00000260188.5_Missense_Mutation_p.D255N|USP28_ENST00000537706.1_Missense_Mutation_p.D255N NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 255 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D255N(1) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCACTCACATCTTGCTATAAG 0.363000 4 23 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39636983 39636983 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:39636983C>A ENST00000246639.2 - 1 409 c.277G>T c.(277-279)Gcc>Tcc p.A93S KRT35_ENST00000393989.1_Missense_Mutation_p.A123S Q92764 KRT35_HUMAN keratin 35 123 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity p.A123S(1)|p.A123T(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) TCCAGGCTGGCGTTCTCCTGC 0.612000 7 97 0.000157383 0.000177211 1 1 0 OR52R1 119695 broad.mit.edu 37 11 4824855 4824855 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:4824855C>A ENST00000380382.1 - 1 992 c.993G>T c.(991-993)ttG>ttT p.L331F OR52R1_ENST00000356069.2_Missense_Mutation_p.L252F|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L331F(1)|p.L251F(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TATAAAGAGCCAAGATGACAC 0.473000 14 74 3.27435e-08 4.25666e-08 1 1 0 COBLL1 22837 broad.mit.edu 37 2 165561011 165561011 + Nonsense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:165561011C>A ENST00000375458.2 - 8 1389 c.1168G>T c.(1168-1170)Gga>Tga p.G390* COBLL1_ENST00000392717.2_Nonsense_Mutation_p.G428*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.G456*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.G390*|COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.G428* NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 428 p.G390*(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GGAGGAACTCCATCTACTGGC 0.378000 12 101 0.411799 0.414699 1 1 0 MAPK8IP3 23162 broad.mit.edu 37 16 1798647 1798647 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:1798647A>G ENST00000250894.4 + 8 1296 c.1139A>G c.(1138-1140)gAc>gGc p.D380G MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D380G|MAPK8IP3_ENST00000568271.1_3'UTR NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 380 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding p.D381G(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 ATCAACACCGACTCCCTGTAC 0.627000 5 36 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43315759 43315759 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:43315759G>A ENST00000374518.4 + 16 2719 c.2656G>A c.(2656-2658)Gtc>Atc p.V886I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 886 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.V886I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGGATGTACGTCCGCATTGA 0.448000 15 70 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846983 47846983 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:47846983T>G ENST00000339488.4 - 3 1630 c.1597A>C c.(1597-1599)Agc>Cgc p.S533R NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 533 integral to membrane hedgehog receptor activity p.S533C(1)|p.S533R(1) TCCTGGACGCTGCTGTTCCAG 0.488000 3 26 0 0 1 0 0 GPR22 2845 broad.mit.edu 37 7 107115089 107115089 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:107115089T>A ENST00000304402.4 + 3 1927 c.584T>A c.(583-585)cTt>cAt p.L195H COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 195 integral to plasma membrane G-protein coupled receptor activity p.L195H(1) large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 AACAAGACACTTTTATGTGTC 0.313000 3 52 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065344 23065344 + Missense_Mutation SNP G G T rs148539804 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr20:23065344G>T ENST00000246006.4 - 1 1633 c.1486C>A c.(1486-1488)Cgt>Agt p.R496S NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 496 R -> Q (in Ref. 1; AA sequence). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.R496S(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GTTGCAGCACGGGGCACGGTG 0.622000 10 51 1.08611e-07 1.3624e-07 1 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3686514 3686514 + Missense_Mutation SNP C C T rs111336308 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr20:3686514C>T ENST00000344754.4 - 3 582 c.583G>A c.(583-585)Ggc>Agc p.G195S SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G195S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 195 Ig-like C2-type 1. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.G195S(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGGCCGACGCCGGTGGGCTCA 0.642000 14 105 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11100015 11100015 + Nonsense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:11100015C>T ENST00000358026.2 + 7 1425 c.1141C>T c.(1141-1143)Cga>Tga p.R381* SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R381*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R381* NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 381 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.R381*(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CATCGCACACCGAATTCAGGA 0.607000 """F, N, Mis""" NSCLC 19 85 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7618423 7618423 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:7618423C>T ENST00000256861.6 - 10 2049 c.1971G>A c.(1969-1971)acG>acA p.T657T ITIH5_ENST00000397146.2_Silent_p.T657T|ITIH5_ENST00000397145.2_Silent_p.T657T|ITIH5_ENST00000298441.6_Silent_p.T443T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.T439T NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 657 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.T657T(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TACCTGGCTGCGTGCCAGCTC 0.682000 4 18 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7809897 7809897 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:7809897A>G ENST00000380358.4 + 29 4563 c.4562A>G c.(4561-4563)cAt>cGt p.H1521R CHD3_ENST00000330494.7_Missense_Mutation_p.H1462R|CHD3_ENST00000358181.4_Missense_Mutation_p.H1462R NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1462 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding p.H1462R(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TTCATGCGCCATCTGTGTGAG 0.612000 12 82 0 0 1 0 0 FITM1 161247 broad.mit.edu 37 14 24600930 24600930 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr14:24600930G>C ENST00000267426.5 + 1 447 c.158G>C c.(157-159)cGg>cCg p.R53P RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.240_240insT NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 53 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane p.R53P(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 CCCTGCTTACGGCGCCTCTAC 0.627000 4 42 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76829343 76829343 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:76829343A>G ENST00000278559.3 + 8 1301 c.1112A>G c.(1111-1113)cAg>cGg p.Q371R CAPN5_ENST00000529629.1_Missense_Mutation_p.Q371R|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q411R|CAPN5_ENST00000531028.1_Intron NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 371 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity p.Q371R(1) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GACCCGCGACAGAACCGCGGT 0.637000 3 18 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823129 47823129 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:47823129C>T ENST00000355085.3 + 2 117 c.95C>T c.(94-96)aCg>aTg p.T32M NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 32 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity p.T32M(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) ACTTCTAACACGCTGCGTGTT 0.532000 11 48 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070111 60070111 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:60070111C>T ENST00000355131.3 + 6 633 c.410C>T c.(409-411)gCg>gTg p.A137V MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Missense_Mutation_p.A137V|MS4A4A_ENST00000337908.4_Missense_Mutation_p.A156V NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 156 integral to membrane receptor activity p.A156V(1)|p.A137V(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TTTAGCTTGGCGTTTTATTCA 0.403000 8 105 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17058020 17058020 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:17058020C>T ENST00000443236.1 - 21 2698 c.2667G>A c.(2665-2667)tcG>tcA p.S889S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 842 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.S889S(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTTGGGAACCGAGAGCTTCA 0.607000 12 132 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52148735 52148735 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:52148735C>A ENST00000360844.6 - 4 790 c.749G>T c.(748-750)gGc>gTc p.G250V SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 250 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.G250V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) CCTACCTGTGCCTGTGCCATT 0.552000 8 27 0.00448238 0.00478344 1 1 0 ORC1 4998 broad.mit.edu 37 1 52867116 52867116 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:52867116G>A ENST00000371568.3 - 3 359 c.141C>T c.(139-141)atC>atT p.I47I ORC1_ENST00000371566.1_Silent_p.I47I NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 47 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding p.I47I(1) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTCCAATCTGGATGTGAATCT 0.408000 16 92 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725520 38725520 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:38725520C>T ENST00000409072.3 - 2 1020 c.86G>A c.(85-87)cGa>cAa p.R29Q family with sequence similarity 183, member B p.R29Q(4) endometrium(1)|lung(7) 8 TTTCTGGGTTCGTAACTCTTT 0.542000 7 60 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87080995 87080995 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:87080995G>A ENST00000265723.4 - 7 763 c.652C>T c.(652-654)Ctt>Ttt p.L218F ABCB4_ENST00000359206.3_Missense_Mutation_p.L218F|ABCB4_ENST00000358400.3_Missense_Mutation_p.L218F|ABCB4_ENST00000453593.1_Missense_Mutation_p.L218F|ABCB4_ENST00000545634.1_Missense_Mutation_p.L218F NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 218 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.L218F(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATTATCACAAGGGTGAGCTTC 0.468000 7 68 0 0 1 0 0 RNF144B 255488 broad.mit.edu 37 6 18457500 18457500 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:18457500A>G ENST00000259939.3 + 5 763 c.446A>G c.(445-447)cAc>cGc p.H149R RNF144B_ENST00000429054.2_Missense_Mutation_p.H60R NM_182757.3 NP_877434.2 Q7Z419 R144B_HUMAN ring finger protein 144B 149 apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.H149R(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(7) 11 Ovarian(93;0.00365)|Breast(50;0.0145) all_hematologic(90;0.0536) OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105) CCTTCTTGCCACCTGAAATTC 0.552000 25 290 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23794038 23794038 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:23794038T>G ENST00000354639.3 + 10 1633 c.1169T>G c.(1168-1170)aTa>aGa p.I390R STK31_ENST00000433467.2_Missense_Mutation_p.I413R|STK31_ENST00000428484.1_Missense_Mutation_p.I390R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.I413R NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 413 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.I413R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GGATTAGAGATAATATGGGCA 0.388000 5 155 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79682037 79682037 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:79682037C>T ENST00000331531.5 + 2 268 c.148C>T c.(148-150)Cgg>Tgg p.R50W SLC25A10_ENST00000571730.1_Missense_Mutation_p.R205W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R50W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R7W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R205W NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 50 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding p.R50W(1) endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CATGGCGCTGCGGGTGGTGCG 0.667000 8 32 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80746194 80746194 + Missense_Mutation SNP A A C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:80746194A>C ENST00000509894.1 + 17 2753 c.1924A>C c.(1924-1926)Att>Ctt p.I642L TTK_ENST00000230510.3_Missense_Mutation_p.I642L|TTK_ENST00000369798.2_Missense_Mutation_p.I643L P33981 TTK_HUMAN TTK protein kinase 643 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I643L(1)|p.I627L(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTTTAAAGGCATTGTTCACAG 0.328000 12 79 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156535979 156535979 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:156535979G>A ENST00000307851.4 - 1 746 c.16C>T c.(16-18)Ccc>Tcc p.P6S HAVCR2_ENST00000522593.1_Missense_Mutation_p.P6S|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 6 integral to membrane p.P6S(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGTCAAAGGGAAGATGTGAA 0.448000 9 51 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408275 40408275 + Missense_Mutation SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:40408275A>T ENST00000221347.6 - 8 4571 c.4564T>A c.(4564-4566)Tgg>Agg p.W1522R NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1522 extracellular region protein binding p.W1522R(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCAGTCCTCCAGGGCTCCACG 0.622000 44 54 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 61 0.115264 0.117734 1 1 0 WDR38 401551 broad.mit.edu 37 9 127619095 127619095 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:127619095T>A ENST00000373574.1 + 7 759 c.703T>A c.(703-705)Tgg>Agg p.W235R NM_001045476.1|NM_001276374.1 NP_001038941.1|NP_001263303.1 Q5JTN6 WDR38_HUMAN WD repeat domain 38 235 p.W235R(1) breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 CCATGTCACCTGGGTGAAGAG 0.617000 14 52 0 0 1 0 0 SLC39A6 25800 broad.mit.edu 37 18 33694106 33694106 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr18:33694106C>A ENST00000269187.5 - 7 2010 c.1797G>T c.(1795-1797)gtG>gtT p.V599V SLC39A6_ENST00000440549.2_Silent_p.V324V|SLC39A6_ENST00000590986.1_Silent_p.V599V NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 599 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity p.V599V(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 CACCCATTATCACCATCCAGG 0.478000 5 60 3.59834e-05 4.18343e-05 1 1 0 C2orf70 339778 broad.mit.edu 37 2 26802211 26802211 + Missense_Mutation SNP G G A rs147381361 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:26802211G>A ENST00000409392.1 + 5 575 c.473G>A c.(472-474)cGa>cAa p.R158Q C2orf70_ENST00000329615.3_Missense_Mutation_p.E171K A6NJV1 CB070_HUMAN chromosome 2 open reading frame 70 0 p.E171K(1)|p.E171*(1) breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 ACTAGCCCCCGAGAACCTGAA 0.532000 13 46 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8751902 8751902 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:8751902C>T ENST00000534127.1 - 6 1320 c.935G>A c.(934-936)cGg>cAg p.R312Q ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R312Q|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R312Q NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 312 positive regulation of ERK1 and ERK2 cascade protein binding p.R312Q(1) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCTTTTCCCCCGGTCCACGCT 0.667000 17 71 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74838084 74838084 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:74838084T>A ENST00000358399.3 + 7 748 c.655T>A c.(655-657)Tct>Act p.S219T GDA_ENST00000376986.1_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.S219T|GDA_ENST00000545168.1_Missense_Mutation_p.S145T NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 219 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding p.S219T(2) central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCTCTCCTGCTCTGAGACTTT 0.413000 12 71 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33891898 33891898 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:33891898C>A ENST00000504830.1 - 1 399 c.64G>T c.(64-66)Ggg>Tgg p.G22W ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G22W|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G22W NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 22 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G22W(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CAAAGCGCCCCAAAGTTAAGG 0.498000 HNSCC(64;0.19) 14 106 0.000308642 0.000339506 1 1 0 SYBU 55638 broad.mit.edu 37 8 110631185 110631185 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr8:110631185G>A ENST00000399066.3 - 2 1031 c.304C>T c.(304-306)Cct>Tct p.P102S SYBU_ENST00000440310.1_Missense_Mutation_p.P105S|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000528647.1_Missense_Mutation_p.P104S|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000419099.1_Missense_Mutation_p.P104S|SYBU_ENST00000422135.1_Missense_Mutation_p.P105S|SYBU_ENST00000408908.2_Missense_Mutation_p.P105S|SYBU_ENST00000276646.9_Missense_Mutation_p.P105S|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000532779.1_Missense_Mutation_p.P37S|SYBU_ENST00000533171.1_Missense_Mutation_p.P105S|SYBU_ENST00000433638.1_Missense_Mutation_p.P105S|SYBU_ENST00000533895.1_Missense_Mutation_p.P104S|SYBU_ENST00000446070.2_Missense_Mutation_p.P104S|SYBU_ENST00000424158.2_Missense_Mutation_p.P110S NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 105 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane p.P102S(1) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCACTTCCAGGGCAAAAGCCA 0.483000 5 139 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685846 100685846 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:100685846C>T ENST00000306151.4 + 3 11213 c.11149C>T c.(11149-11151)Cct>Tct p.P3717S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3717 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P3717S(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) CCTTTCAACACCTTCTGTTGT 0.507000 11 170 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834457 125834457 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:125834457C>A ENST00000299308.3 + 2 520 c.512C>A c.(511-513)gCa>gAa p.A171E TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 171 integral to membrane p.A171E(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGGGAAGTGGCAGCCAGCTGT 0.592000 5 82 8.12818e-05 9.37363e-05 1 1 0 COX11 1353 broad.mit.edu 37 17 53045706 53045706 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:53045706G>T ENST00000299335.3 - 1 440 c.302C>A c.(301-303)gCt>gAt p.A101D COX11_ENST00000571584.1_Missense_Mutation_p.A101D NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 101 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity p.A101D(1) endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 CACGGCGACAGCGGCCACGTA 0.697000 3 63 1 1 1 1 0 NR1H4 9971 broad.mit.edu 37 12 100928726 100928726 + Silent SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:100928726T>C ENST00000548884.1 + 6 1186 c.645T>C c.(643-645)caT>caC p.H215H NR1H4_ENST00000392986.3_Silent_p.H219H|NR1H4_ENST00000551379.1_Silent_p.H229H|NR1H4_ENST00000549996.1_Silent_p.H168H|NR1H4_ENST00000188403.7_Silent_p.H225H NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 229 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.H215H(1)|p.H229H(1) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TGAAGCAGCATGCAGATCAGA 0.413000 13 60 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653418 19653418 + Missense_Mutation SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr21:19653418A>T ENST00000284885.3 - 22 2640 c.2607T>A c.(2605-2607)aaT>aaA p.N869K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 869 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.N869K(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTCTTCGCCTATTGTAATGAG 0.378000 14 163 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163291819 163291819 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:163291819C>A ENST00000332142.5 - 8 1942 c.1843G>T c.(1843-1845)Gtc>Ttc p.V615F KCNH7_ENST00000328032.4_Missense_Mutation_p.V608F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 615 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.V615F(1)|p.V608F(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGTGCTGTGACGTATTTGTCT 0.398000 10 80 2.17888e-05 2.5965e-05 1 1 0 C17orf103 256302 broad.mit.edu 37 17 21146727 21146727 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:21146727C>T ENST00000399011.2 - 4 239 c.238G>A c.(238-240)Gtg>Atg p.V80M C17orf103_ENST00000468196.1_Silent_p.S80S NM_152914.2 NP_690878.2 Q8N6N6 GTL3B_HUMAN chromosome 17 open reading frame 103 81 p.V80M(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 TCCTCCACCACGAAGTCCAGG 0.657000 4 38 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45134848 45134848 + Silent SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr3:45134848G>T ENST00000296129.1 - 6 1682 c.1548C>A c.(1546-1548)acC>acA p.T516T NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 516 CUB. extracellular region|integral to membrane|plasma membrane p.T516T(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGGTGCGAAGGGTCACCGAGA 0.572000 5 84 3.59834e-05 4.18343e-05 1 1 0 CHCHD2 51142 broad.mit.edu 37 7 56172005 56172005 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:56172005C>T ENST00000395422.3 - 2 376 c.214G>A c.(214-216)Gtg>Atg p.V72M NM_016139.2 NP_057223.1 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 2 72 mitochondrion p.V72M(1) endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTGTGCCCCACAGCAGAGCCC 0.612000 5 39 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133727632 133727632 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:133727632G>T ENST00000248211.6 + 3 274 c.52G>T c.(52-54)Gat>Tat p.D18Y ZNF10_ENST00000540927.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.D18Y|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.D18Y|ZNF268_ENST00000416488.1_Missense_Mutation_p.D18Y|ZNF10_ENST00000402932.2_Missense_Mutation_p.D18Y NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.D18Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GACCTTCAAGGATGTATTTGT 0.458000 13 81 0.000219431 0.000245146 1 1 0 PRSS22 64063 broad.mit.edu 37 16 2906186 2906186 + Nonsense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:2906186C>A ENST00000161006.3 - 3 243 c.178G>T c.(178-180)Gag>Tag p.E60* PRSS22_ENST00000571228.1_Nonsense_Mutation_p.E60*|PRSS22_ENST00000574768.1_5'UTR NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.E60*(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CAGGGCCACTCGCTGTCAGTG 0.602000 10 47 0.00829132 0.00878266 1 1 0 TTYH1 57348 broad.mit.edu 37 19 54937858 54937858 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:54937858C>T ENST00000301194.4 + 5 769 c.647C>T c.(646-648)gCc>gTc p.A216V TTYH1_ENST00000376531.3_Missense_Mutation_p.A216V|TTYH1_ENST00000391739.3_Missense_Mutation_p.A265V|TTYH1_ENST00000376530.3_Missense_Mutation_p.A216V|TTYH1_ENST00000489425.1_3'UTR Q9H313 TTYH1_HUMAN tweety family member 1 216 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity p.A216V(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGGTGGCTGGCCTACGTCCTC 0.647000 9 88 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164048 139164048 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr8:139164048G>T ENST00000395297.1 - 13 2840 c.2670C>A c.(2668-2670)aaC>aaA p.N890K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 890 p.N890K(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGTCCTGGGGTTTTCAAGTG 0.468000 HNSCC(54;0.14) 4 151 0.150653 0.15279 1 1 0 TPSAB1 7177 broad.mit.edu 37 16 1291189 1291189 + Missense_Mutation SNP G G A rs143010092 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:1291189G>A ENST00000461509.2 + 2 312 c.118G>A c.(118-120)Ggg>Agg p.G40R TPSAB1_ENST00000338844.3_Missense_Mutation_p.G33R P20231 TRYB2_HUMAN tryptase alpha/beta 1 33 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity p.G33R(1) NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GGGCATCGTCGGGGGTCAGGA 0.701000 4 44 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62938755 62938755 + Silent SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:62938755A>T ENST00000393630.3 + 22 2938 c.2547A>T c.(2545-2547)acA>acT p.T849T MON2_ENST00000280379.6_Silent_p.T849T|MON2_ENST00000393629.2_Silent_p.T848T|MON2_ENST00000552738.1_Silent_p.T825T|MON2_ENST00000552115.1_Silent_p.T848T|MON2_ENST00000393632.2_Silent_p.T848T|MON2_ENST00000546600.1_Silent_p.T848T NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 849 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding p.T848T(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CAGGATTAACATTTAACCATG 0.333000 12 51 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154128189 154128189 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chrX:154128189G>A ENST00000360256.4 - 21 6425 c.6225C>T c.(6223-6225)tcC>tcT p.S2075S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2075 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.S2075S(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TGATTGATCCGGAATAATGAA 0.418000 4 26 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591835 591835 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chrX:591835T>A ENST00000381578.1 + 2 894 c.203T>A c.(202-204)gTg>gAg p.V68E SHOX_ENST00000334060.3_Missense_Mutation_p.V68E|SHOX_ENST00000554971.1_Missense_Mutation_p.V68E|SHOX_ENST00000381575.1_Missense_Mutation_p.V68E NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 68 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V68E(1) endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACTGCCCGGTGCATTTGTTC 0.602000 9 88 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125289309 125289309 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:125289309G>A ENST00000304880.2 - 1 263 c.264C>T c.(262-264)caC>caT p.H88H NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H88H(1) breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AGGAGATGGTGTGATGCCGAG 0.473000 5 45 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119736190 119736190 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:119736190G>C ENST00000379735.5 - 6 1068 c.797C>G c.(796-798)cCt>cGt p.P266R SEC24D_ENST00000280551.6_Missense_Mutation_p.P265R|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 265 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.P265R(1) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TACTGGGCTAGGGATAGAGTC 0.502000 8 87 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24808294 24808294 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr14:24808294T>A ENST00000216274.5 - 3 616 c.398A>T c.(397-399)gAc>gTc p.D133V NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 133 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity p.D133V(1) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CGGGTTCTGGTCGTGCAGGTA 0.637000 5 50 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 37 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886922 25886922 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:25886922G>C ENST00000376351.3 + 11 2726 c.2367G>C c.(2365-2367)agG>agC p.R789S GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 789 integral to membrane|plasma membrane G-protein coupled receptor activity p.R789S(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCCTCATCAGGAAGAACCCCC 0.552000 13 67 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88106793 88106793 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:88106793G>A ENST00000273963.5 - 3 716 c.375C>T c.(373-375)gtC>gtT p.V125V KLHL8_ENST00000512111.1_Silent_p.V125V|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 125 BTB. p.V125V(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GTGAAGAATAGACAAACTTTA 0.418000 5 48 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44955627 44955627 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:44955627C>A ENST00000261866.7 - 1 235 c.219G>T c.(217-219)cgG>cgT p.R73R SPG11_ENST00000559193.1_Silent_p.R73R|SPG11_ENST00000558319.1_Silent_p.R73R|SPG11_ENST00000535302.2_Silent_p.R73R|SPG11_ENST00000427534.2_Silent_p.R73R NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 73 cell death cytosol|integral to membrane|nucleus protein binding p.G74C(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GACCCCCGCCCCGGCTGCCAG 0.697000 3 10 0.00909568 0.00949403 1 1 0 UBC 7316 broad.mit.edu 37 12 125397791 125397791 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:125397791T>G ENST00000536769.1 - 1 2103 c.527A>C c.(526-528)gAg>gCg p.E176A UBC_ENST00000339647.5_Missense_Mutation_p.E176A|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 176 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.E176A(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTGACATTCTCGATGGTGTC 0.527000 10 142 0 0 1 0 0 AUP1 550 broad.mit.edu 37 2 74755588 74755588 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:74755588C>T ENST00000377526.3 - 5 862 c.553G>A c.(553-555)Gta>Ata p.V185I NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 251 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding p.V185I(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 AGAGGTTGTACCACATCTTGG 0.502000 7 32 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496708 20496708 + RNA SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:20496708A>G ENST00000555186.1 + 0 761 NR_038836.1 TGAACATGAAAGAAATGTACC 0.423000 3 25 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110822018 110822018 + Silent SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr13:110822018A>G ENST00000375820.4 - 43 3955 c.3834T>C c.(3832-3834)ggT>ggC p.G1278G NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1278 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.G1278G(1)|p.G921G(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCCCTGGGACACCGGGTGCTC 0.512000 15 81 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790184 248790184 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:248790184C>G ENST00000330803.2 - 1 307 c.246G>C c.(244-246)atG>atC p.M82I NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M82I(1) breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) CTTTAGAAACCATGTCTGCCA 0.502000 14 37 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94487168 94487168 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:94487168G>A ENST00000375708.3 - 9 1806 c.1608C>T c.(1606-1608)gtC>gtT p.V536V ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.V396V NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 536 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|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.V536V(1) 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 GCAGGCAGACGACGTTGGGGT 0.627000 11 63 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455939 110455939 + Silent SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr8:110455939G>T ENST00000378402.5 + 37 4703 c.4599G>T c.(4597-4599)gtG>gtT p.V1533V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1533 immune response cytosol|extracellular space|integral to membrane receptor activity p.V1535V(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAGCTCTGTGGCAGGCTGCC 0.403000 HNSCC(38;0.096) 7 25 0.0477658 0.0491403 1 1 0 TCERG1 10915 broad.mit.edu 37 5 145883476 145883476 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:145883476C>A ENST00000296702.5 + 18 2675 c.2637C>A c.(2635-2637)gcC>gcA p.A879A TCERG1_ENST00000394421.2_Silent_p.A858A|TCERG1_ENST00000509787.1_3'UTR NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 879 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity p.A879A(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAAAAGGCCCGTTCAGAAC 0.433000 6 64 0.0477658 0.0491403 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 6 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31025842 31025842 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:31025842C>G ENST00000355537.3 + 3 2406 c.2259C>G c.(2257-2259)tgC>tgG p.C753W NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 753 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.C753W(1)|p.C753*(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGAAGGACTGCCCGTACTGTG 0.602000 8 124 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8211605 8211605 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:8211605A>G ENST00000307637.4 - 2 1380 c.1177T>C c.(1177-1179)Tac>Cac p.Y393H NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 393 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity p.Y393H(1) breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) AAAATGTGGTATGGAGTCCAG 0.512000 5 34 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564566 176564566 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:176564566G>A ENST00000367662.3 + 3 2990 c.1826G>A c.(1825-1827)gGg>gAg p.G609E PAPPA2_ENST00000367661.3_Missense_Mutation_p.G609E NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 609 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G609E(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCTATGATGGGGGTGACTGC 0.587000 6 66 0 0 1 0 0 HOMER3 9454 broad.mit.edu 37 19 19042357 19042357 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:19042357C>T ENST00000539827.1 - 7 1420 c.768G>A c.(766-768)tcG>tcA p.S256S HOMER3_ENST00000433218.2_Silent_p.S256S|HOMER3_ENST00000221222.11_Silent_p.S256S|HOMER3_ENST00000392351.3_Silent_p.S256S|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000594439.1_Silent_p.S220S|HOMER3_ENST00000355887.6_Silent_p.S256S|HOMER3_ENST00000594794.1_Silent_p.S47S|HOMER3_ENST00000542541.2_Silent_p.S256S Q9NSC5 HOME3_HUMAN homer homolog 3 (Drosophila) 256 metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding p.S256S(1) endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) GCTGTTCCAGCGACTGGCCCT 0.637000 5 100 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816907 77816912 + In_Frame_Del DEL ACATTT ACATTT - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:77816907_77816912delACATTT ENST00000334306.2 - 1 2090_2095 c.2091_2096delAAATGT c.(2089-2097)gtc>gt p.VNV697del NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 697 GCTGTCCCTGACATTTACCCGAGAAG 0.539 27 334 --- --- --- --- PXDC1 221749 broad.mit.edu 37 6 3751655 3751657 + In_Frame_Del DEL CTC CTC - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:3751655_3751657delCTC ENST00000380283.4 - 1 603_605 c.109_111delGAG c.(109-111)del p.E37del RP11-420L9.5_ENST00000603791.1_RNA|PXDC1_ENST00000477592.2_5'UTR NM_183373.3 NP_899229.2 Q5TGL8 CF145_HUMAN PX domain containing 1 37 PX. cell communication phosphatidylinositol binding TCTCGAAGAACTCCTCTTCGTCG 0.690 2 4 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 8 649 --- --- --- --- TRGV3 6976 broad.mit.edu 37 7 38398480 38398481 + RNA INS - - AA rs3056123 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:38398480_38398481insAA ENST00000390346.2 - 0 226 GCACCCCTTTCAAGAAGAAAAC 0.480 7 37 --- --- --- --- CTSV 1515 broad.mit.edu 37 9 99798905 99798905 + Frame_Shift_Del DEL C C - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:99798905delC ENST00000259470.5 - 5 770 c.521delG c.(520-522)gcfs p.G174fs CTSV_ENST00000538255.1_Frame_Shift_Del_p.G174fs NM_001333.3 NP_001324.2 cathepsin V GCCCTGATTGCCTTGAGGACG 0.522 9 70 --- --- --- --- GAL3ST3 89792 broad.mit.edu 37 11 65810949 65810949 + Frame_Shift_Del DEL G G - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:65810949delG ENST00000312006.4 - 3 606 c.325delC c.(325-327)gcfs p.R109fs GAL3ST3_ENST00000527878.1_Frame_Shift_Del_p.R109fs NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 109 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 kidney(1)|lung(9)|ovary(2)|skin(2) 14 GAGAAGTTGCGGGGGTAGCAG 0.692 10 34 --- --- --- --- CTC-512J12.4 0 broad.mit.edu 37 19 44917439 44917446 + RNA DEL TTCCTTCC TTCCTTCC - rs74404943 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:44917439_44917446delTTCCTTCC ENST00000588655.1 - 0 488 ccttccttctttccttccttccttcctt 0.423 3 3 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 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) ACTTAATGTCAAAAAAAATGT 0.299 8 299 --- --- --- ---