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 GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks ref_context gc_content COSMIC_n_overlapping_mutations ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_Chromosome ESP_Position ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term HGNC_AccessionNumbers HGNC_CCDSIDs HGNC_Chromosome HGNC_DateModified HGNC_DateNameChanged HGNC_DateSymbolChanged HGNC_EnsemblGeneID HGNC_EnsemblIDsuppliedbyEnsembl HGNC_Genefamilydescription HGNC_HGNCID HGNC_LocusGroup HGNC_LocusType HGNC_NameSynonyms HGNC_OMIMIDsuppliedbyNCBI HGNC_PreviousNames HGNC_PreviousSymbols HGNC_PubmedIDs HGNC_RecordType HGNC_RefSeqsuppliedbyNCBI HGNC_Status HGNC_Synonyms HGNC_UCSCIDsuppliedbyUCSC HGNC_UniProtIDsuppliedbyUniProt HGNC_VEGAIDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change UniProt_alt_uniprot_accessions annotation_transcript build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript init_n_lod init_t_lod isArtifactMode n_alt_count n_ref_count oxoGCut pox pox_cutoff qox refseq_mrna_id t_alt_count t_lod_fstar t_ref_count tumor_f JAKMIP1 152789 broad.mit.edu hg19 4 6050593 6050593 + Silent SNP C C A TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr4:6050593C>A ENST00000409021.3 - 16 2468 c.2019G>T c.(2017-2019)ctG>ctT p.L673L JAKMIP1_ENST00000409371.3_Silent_p.L488L NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 444 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTTTTCACACAGGGCAAGCA 0.468 0 97.0 95.0 96.0 4 6050593 1986 4151 6137 SO:0001819 synonymous_variant AK056126 CCDS3385.1, CCDS47005.1 4p16.1 2013-10-11 2009-08-13 ENSG00000152969 ENSG00000152969 26460 protein-coding gene gene with protein product 611195 18941173 Standard NM_144720 Approved MARLIN1, JAMIP1, Gababrbp, FLJ31564 uc010idb.1 Q96N16 OTTHUMG00000125491 ENST00000409021.3:c.2019G>T 4.37:g.6050593C>A A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3 ENST00000409021.3 37 CCDS47005.1 JAKMIP1-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000329747.1 -1.711817 1 6 63 0 0.115264 1 0.128071 NM_144720 3 6.777134 41 0.068182 KCTD19 146212 broad.mit.edu hg19 16 67327540 67327540 + Missense_Mutation SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr16:67327540C>T ENST00000304372.5 - 12 2180 c.2125G>A c.(2125-2127)Gac>Aac p.D709N NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 709 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGCCCCTTGTCTTTCGCTCCA 0.597 0 91.0 97.0 95.0 16 67327540 2013 4180 6193 SO:0001583 missense AK097481 CCDS42179.1 16q22.1 2013-06-20 2013-06-20 ENSG00000168676 24753 protein-coding gene gene with protein product """potassium channel tetramerisation domain containing 19""" Standard NM_001100915 Approved FLJ40162 uc002esu.2 Q17RG1 ENST00000304372.5:c.2125G>A 16.37:g.67327540C>T ENSP00000305702:p.Asp709Asn B4DZ49|Q8N804 ENST00000304372.5 37 CCDS42179.1 . . . . . . . . . . C 14.00 2.404509 0.42613 . . ENSG00000168676 ENST00000304372 T 0.59772 0.24 5.86 5.86 0.93980 . 0.426896 0.22428 N 0.060193 T 0.39489 0.1080 N 0.19112 0.55 0.35187 D 0.773001 P 0.38922 0.651 B 0.24541 0.054 T 0.57516 -0.7798 10 0.59425 D 0.04 -16.2777 15.6912 0.77453 0.0:1.0:0.0:0.0 . 709 Q17RG1 KCD19_HUMAN N 709 ENSP00000305702:D709N ENSP00000305702:D709N D - 1 0 KCTD19 65885041 1.000000 0.71417 1.000000 0.80357 0.312000 0.27988 3.895000 0.56258 2.779000 0.95612 0.563000 0.77884 GAC KCTD19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000422061.1 72.590610 0 -19 97 0 0 1 0 XM_085367 27 76.101897 65 0.293478 PARPBP 55010 broad.mit.edu hg19 12 102576331 102576331 + Missense_Mutation SNP C C G TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr12:102576331C>G ENST00000327680.2 + 10 1409 c.946C>G c.(946-948)Ccc>Gcc p.P316A PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.P397A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 397 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 ACATAGGTCTCCCACACAGGT 0.338 0 42.0 43.0 43.0 12 102576331 2203 4299 6502 SO:0001583 missense AK000648 CCDS9090.1, CCDS9090.2 12q23.2 2013-03-14 2012-01-24 2012-01-24 ENSG00000185480 26074 protein-coding gene gene with protein product """PARP-1 binding protein""" 613687 """chromosome 12 open reading frame 48""" C12orf48 20931645 Standard NM_017915 Approved FLJ20641, PARI uc001tjf.3 Q9NWS1 ENST00000358383.5:c.1189C>G 12.37:g.102576331C>G ENSP00000351153:p.Pro397Ala B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36 ENST00000358383.5 37 CCDS9090.2 . . . . . . . . . . C 14.78 2.638060 0.47153 . . ENSG00000185480 ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507 T;T;T;T;T 0.40225 1.04;1.04;1.04;1.04;1.11 5.26 5.26 0.73747 . 0.000000 0.85682 D 0.000000 T 0.65471 0.2694 M 0.77103 2.36 0.45490 D 0.998458 D;D;D 0.89917 1.0;0.999;1.0 D;D;D 0.87578 0.998;0.996;0.998 T 0.69198 -0.5208 10 0.87932 D 0 -7.5577 14.7262 0.69346 0.0:1.0:0.0:0.0 . 474;276;397 B4DZ31;Q9NWS1-7;Q9NWS1 .;.;PR1BP_HUMAN A 316;474;397;316;243 ENSP00000332915:P316A;ENSP00000440850:P474A;ENSP00000351153:P397A;ENSP00000376643:P316A;ENSP00000411313:P243A ENSP00000332915:P316A P + 1 0 C12orf48 101100461 1.000000 0.71417 0.998000 0.56505 0.107000 0.19398 3.974000 0.56852 2.613000 0.88420 0.591000 0.81541 CCC PARPBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397030.2 53.114730 0 -7 49 0 0 1 0 NM_017915 18 53.366825 25 0.418605 BAP1 8314 broad.mit.edu hg19 3 52436620 52436620 + Missense_Mutation SNP T T A TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr3:52436620T>A ENST00000460680.1 - 16 2525 c.2054A>T c.(2053-2055)gAa>gTa p.E685V BAP1_ENST00000296288.5_Missense_Mutation_p.E667V NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 685 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CCCCTCACCTTCCTGAGCCAG 0.552 2 148.0 135.0 140.0 3 52436620 2203 4300 6503 SO:0001583 missense AF045581 CCDS2853.1 3p21.31-p21.2 2014-09-17 ENSG00000163930 ENSG00000163930 950 protein-coding gene gene with protein product 603089 9528852 Standard NM_004656 Approved hucep-6, KIAA0272, UCHL2 uc003ddx.4 Q92560 OTTHUMG00000158392 ENST00000460680.1:c.2054A>T 3.37:g.52436620T>A ENSP00000417132:p.Glu685Val B2RBS7|B3KRH1|Q5TEN1|Q5TEN2 ENST00000460680.1 37 CCDS2853.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 20.9|20.9 4.073625|4.073625 0.76415|0.76415 .|. .|. ENSG00000163930|ENSG00000163930 ENST00000460680;ENST00000296288;ENST00000478368|ENST00000469613 T;T;T|. 0.51325|. 0.71;0.71;0.71|. 5.82|5.82 5.82|5.82 0.92795|0.92795 Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|. 0.70928|. 0.3280|. L|L 0.57536|0.57536 1.79|1.79 0.80722|0.80722 D|D 1|1 D|. 0.69078|. 0.997|. P|. 0.60789|. 0.879|. T|. 0.69026|. -0.5254|. 10|. 0.87932|. D|. 0|. .|. 16.183|16.183 0.81925|0.81925 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 685|. Q92560|. BAP1_HUMAN|. V|X 685;667;209|85 ENSP00000417132:E685V;ENSP00000296288:E667V;ENSP00000420647:E209V|. ENSP00000296288:E667V|. E|K -|- 2|1 0|0 BAP1|BAP1 52411660|52411660 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.885000|0.885000 0.51271|0.51271 6.280000|6.280000 0.72626|0.72626 2.231000|2.231000 0.72958|0.72958 0.402000|0.402000 0.26972|0.26972 GAA|AAG BAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350895.1 134.539547 0 -4 73 0 0 1 0 38 136.200235 1 0.974359 XPC 7508 broad.mit.edu hg19 3 14200132 14200132 + Silent SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr3:14200132C>T ENST00000285021.7 - 9 1465 c.1251G>A c.(1249-1251)ccG>ccA p.P417P XPC_ENST00000449060.2_Silent_p.P380P NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 417 Arg/Lys-rich (basic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCCGGCCATGCGGACGTCGCT 0.607 0 142.0 140.0 140.0 3 14200132 1568 3582 5150 SO:0001819 synonymous_variant CCDS46763.1 3p25.1 2014-09-17 ENSG00000154767 ENSG00000154767 12816 protein-coding gene gene with protein product """xeroderma pigmentosum group C protein""" 613208 1522891 Standard NM_004628 Approved XPCC, RAD4 uc011ave.2 Q01831 OTTHUMG00000155526 ENST00000285021.7:c.1251G>A 3.37:g.14200132C>T B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0 ENST00000285021.7 37 CCDS46763.1 XPC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000340517.3 -4.650439 0 3 163 0 0 1 0 NM_004628 4 7.308321 57 0.065574 FHOD3 80206 broad.mit.edu hg19 18 33952644 33952644 + Splice_Site SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr18:33952644C>T ENST00000257209.4 + 3 396 c.274C>T c.(274-276)Cgg>Tgg p.R92W FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000359247.4_Splice_Site_p.R92W NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 92 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TCTCGTTAGGCGGGGCAAGAA 0.522 0 SO:0001630 splice_region_variant AK091899 CCDS32816.1, CCDS62418.1, CCDS62419.1 18q12 2007-08-02 ENSG00000134775 26178 protein-coding gene gene with protein product 609691 11214970 Standard NM_025135 Approved FHOS2, KIAA1695, FLJ22297, FLJ22717 uc021uiv.1 Q2V2M9 ENST00000590592.1:c.273-1C>T 18.37:g.33952644C>T A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7 ENST00000590592.1 37 CCDS32816.1 . . . . . . . . . . C 17.77 3.471204 0.63625 . . ENSG00000134775 ENST00000257209;ENST00000359247;ENST00000445677 T;T;T 0.20200 2.09;2.09;2.09 5.07 1.99 0.26369 GTPase-binding/formin homology 3 (1); 0.059478 0.64402 D 0.000009 T 0.33760 0.0874 L 0.40543 1.245 0.29114 N 0.880696 D;D;P 0.89917 1.0;1.0;0.85 D;D;B 0.83275 0.967;0.996;0.06 T 0.13388 -1.0511 10 0.87932 D 0 . 10.8051 0.46514 0.6476:0.3524:0.0:0.0 . 92;92;92 Q2V2M9;Q2V2M9-3;E5F5Q0 FHOD3_HUMAN;.;. W 92 ENSP00000257209:R92W;ENSP00000352186:R92W;ENSP00000411430:R92W ENSP00000257209:R92W R + 1 2 FHOD3 32206642 1.000000 0.71417 1.000000 0.80357 0.838000 0.47535 1.465000 0.35299 0.240000 0.21263 0.650000 0.86243 CGG FHOD3-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000460883.1 37.065480 0 6 38 0 0 1 0 XM_371114 13 37.100820 11 0.541667 SOGA1 140710 broad.mit.edu hg19 20 35443784 35443784 + Silent SNP G G A TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr20:35443784G>A ENST00000237536.4 - 5 2402 c.2061C>T c.(2059-2061)aaC>aaT p.N687N SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000357779.3_Silent_p.N449N NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 449 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CAGCACACTCGTTGTCCAGAC 0.647 0 33.0 35.0 34.0 20 35443784 2203 4299 6502 SO:0001819 synonymous_variant AK126630 CCDS46598.1, CCDS54459.1 20q11.23 2012-03-01 2012-02-27 2012-02-27 ENSG00000149639 ENSG00000149639 16111 protein-coding gene gene with protein product """suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy""" """chromosome 20 open reading frame 117"", ""KIAA0889""" C20orf117, KIAA0889 20813965 Standard NM_080627 Approved dJ132F21.1, FLJ44670, SOGA uc021wcx.1 O94964 OTTHUMG00000032395 ENST00000237536.4:c.2061C>T 20.37:g.35443784G>A A6NK10|Q14DB2|Q5JW51|Q6ZTG8 ENST00000237536.4 37 CCDS54459.1 SOGA1-005 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000276635.1 32.922908 0 -2 29 0 0 1 0 NM_199181 11 32.932383 12 0.478261 TSHZ2 128553 broad.mit.edu hg19 20 51873020 51873020 + Missense_Mutation SNP C C A TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr20:51873020C>A ENST00000371497.5 + 2 3910 c.3023C>A c.(3022-3024)gCg>gAg p.A1008E TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1008 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCAAACATGCGGTAAAACTC 0.468 0 119.0 101.0 107.0 20 51873020 2203 4300 6503 SO:0001583 missense AF230201 CCDS33490.1, CCDS54474.1 20q13.2 2013-11-20 2007-07-16 2006-03-14 ENSG00000182463 ENSG00000182463 """Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type""" 13010 protein-coding gene gene with protein product 614118 """chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2""" C20orf17, ZNF218 9671742 Standard NM_173485 Approved ZABC2, OVC10-2, TSH2 uc021wex.1 Q9NRE2 OTTHUMG00000033058 ENST00000371497.5:c.3023C>A 20.37:g.51873020C>A ENSP00000360552:p.Ala1008Glu B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260 ENST00000371497.5 37 CCDS33490.1 . . . . . . . . . . C 24.7 4.556662 0.86231 . . ENSG00000182463 ENST00000371497;ENST00000329613 T;T 0.28666 1.6;1.6 5.69 5.69 0.88448 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2); 0.000000 0.85682 D 0.000000 T 0.58424 0.2121 M 0.71920 2.185 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.59841 -0.7378 10 0.87932 D 0 -14.5615 19.8075 0.96536 0.0:1.0:0.0:0.0 . 1008 Q9NRE2 TSH2_HUMAN E 1008;1005 ENSP00000360552:A1008E;ENSP00000333114:A1005E ENSP00000333114:A1005E A + 2 0 TSHZ2 51306427 1.000000 0.71417 0.985000 0.45067 0.981000 0.71138 7.482000 0.81143 2.681000 0.91329 0.637000 0.83480 GCG TSHZ2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080398.6 -5.018007 1 -14 53 0 0.150653 1 0.155848 NM_173485 3 6.478086 52 0.054545 LIPE 3991 broad.mit.edu hg19 19 42912150 42912150 + Missense_Mutation SNP A A G TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr19:42912150A>G ENST00000244289.4 - 4 1910 c.1634T>C c.(1633-1635)aTc>aCc p.I545T LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 545 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CATCTCGGTGATGTTCCAGAA 0.597 0 78.0 60.0 66.0 19 42912150 2203 4300 6503 SO:0001583 missense L11706 CCDS12607.1 19q13.1-q13.2 2014-03-14 ENSG00000079435 ENSG00000079435 6621 protein-coding gene gene with protein product 151750 8506334 Standard NM_005357 Approved HSL uc002otr.3 Q05469 OTTHUMG00000182814 ENST00000244289.4:c.1634T>C 19.37:g.42912150A>G ENSP00000244289:p.Ile545Thr Q3LRT2|Q6NSL7 ENST00000244289.4 37 CCDS12607.1 . . . . . . . . . . A 16.18 3.049033 0.55110 . . ENSG00000079435 ENST00000244289 T 0.37058 1.22 4.12 3.07 0.35406 Hormone-sensitive lipase, N-terminal (1); 0.156433 0.39834 N 0.001252 T 0.50514 0.1620 L 0.54323 1.7 0.38897 D 0.957238 D;D 0.76494 0.999;0.997 D;D 0.80764 0.984;0.994 T 0.51228 -0.8732 10 0.66056 D 0.02 -21.1103 9.0444 0.36338 0.8348:0.0:0.0:0.1652 . 545;545 A8K8W7;Q05469 .;LIPS_HUMAN T 545 ENSP00000244289:I545T ENSP00000244289:I545T I - 2 0 LIPE 47603990 1.000000 0.71417 0.989000 0.46669 0.703000 0.40648 3.784000 0.55416 0.538000 0.28769 0.459000 0.35465 ATC LIPE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463861.1 5.091048 0 16 33 0 0 1 0 NM_005357 4 6.382114 14 0.222222 PTCHD1 139411 ucsc.edu hg19 X 23411271 23411271 + Missense_Mutation SNP C C A TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 C C Unknown Untested Somatic Phase_I WXS none Illumina HiSeq f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe TACTGCCCAGCAAAAGTACTT 0.423 0 105.0 93.0 97.0 X 23411271 2203 4300 6503 SO:0001583 missense AK054858 CCDS35215.2 Xp22.13 2008-02-05 ENSG00000165186 ENSG00000165186 26392 protein-coding gene gene with protein product 300828 Standard NM_173495 Approved FLJ30296 uc004dal.4 Q96NR3 OTTHUMG00000021251 ENST00000379361.4:c.1636C>A X.37:g.23411271C>A ENSP00000368666:p.Gln546Lys B4DQH0|Q0IJ60|Q6P6B8 ENST00000379361.4 37 CCDS35215.2 . . . . . . . . . . C 20.2 3.947582 0.73787 . . ENSG00000165186 ENST00000379361 D 0.83992 -1.79 5.69 5.69 0.88448 . 0.000000 0.85682 D 0.000000 D 0.82540 0.5059 L 0.54323 1.7 0.53688 D 0.99997 B 0.17852 0.024 B 0.31290 0.127 T 0.76971 -0.2761 10 0.23302 T 0.38 . 18.7851 0.91951 0.0:1.0:0.0:0.0 . 546 Q96NR3 PTHD1_HUMAN K 546 ENSP00000368666:Q546K ENSP00000368666:Q546K Q + 1 0 PTCHD1 23321192 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.764000 0.68826 2.381000 0.81170 0.600000 0.82982 CAA PTCHD1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056047.2 -91 49 NM_173495 4 26 PREX2 80243 broad.mit.edu hg19 8 69000029 69000029 + Missense_Mutation SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr8:69000029C>T ENST00000288368.4 + 19 2375 c.2098C>T c.(2098-2100)Cat>Tat p.H700Y RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 700 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCTGTTGTGCATGCTGTAGG 0.453 0 199.0 186.0 190.0 8 69000029 2203 4300 6503 SO:0001583 missense AK024079 CCDS6201.1 8q13.1 2014-06-13 2008-09-15 2008-09-15 ENSG00000046889 ENSG00000046889 """Rho guanine nucleotide exchange factors""" 22950 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 129""" 612139 """DEP domain containing 2""" DEPDC2 15304342, 15304343 Standard NM_024870 Approved DEP.2, FLJ12987, P-REX2, PPP1R129 uc003xxv.1 Q70Z35 OTTHUMG00000164402 ENST00000288368.4:c.2098C>T 8.37:g.69000029C>T ENSP00000288368:p.His700Tyr B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961 ENST00000288368.4 37 CCDS6201.1 . . . . . . . . . . C 14.04 2.415959 0.42817 . . ENSG00000046889 ENST00000288368;ENST00000396539;ENST00000354677 T 0.26957 1.7 5.45 5.45 0.79879 PDZ/DHR/GLGF (4); 0.059839 0.64402 D 0.000002 T 0.23965 0.0580 L 0.31120 0.905 0.80722 D 1 B;B;B 0.27416 0.178;0.117;0.042 B;B;B 0.32928 0.155;0.123;0.051 T 0.04509 -1.0946 10 0.19147 T 0.46 . 19.2862 0.94072 0.0:1.0:0.0:0.0 . 700;700;700 Q70Z35-2;Q70Z35;Q70Z35-3 .;PREX2_HUMAN;. Y 700 ENSP00000288368:H700Y ENSP00000288368:H700Y H + 1 0 PREX2 69162583 1.000000 0.71417 0.993000 0.49108 0.754000 0.42855 7.411000 0.80078 2.538000 0.85594 0.650000 0.86243 CAT PREX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378620.1 120.106082 0 -16 125 0 0 1 0 NM_025170 45 126.065327 109 0.292208 AMER3 205147 broad.mit.edu hg19 2 131519652 131519652 + Silent SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr2:131519652C>T ENST00000423981.1 + 2 117 c.7C>T c.(7-9)Ctg>Ttg p.L3L AMER3_ENST00000321420.4_Silent_p.L3L NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CAGCATGGAGCTGAAGAGAGG 0.627 0 16.0 17.0 17.0 2 131519652 2191 4271 6462 SO:0001819 synonymous_variant AK095696 CCDS2164.1 2q21.1 2012-12-03 2012-12-03 2012-12-03 ENSG00000178171 ENSG00000178171 """-""" 26771 protein-coding gene gene with protein product """family with sequence similarity 123C""" FAM123C 20843316 Standard NM_001105195 Approved FLJ38377 uc002trw.2 Q8N944 OTTHUMG00000131637 ENST00000423981.1:c.7C>T 2.37:g.131519652C>T B7ZLH6 ENST00000423981.1 37 CCDS2164.1 AMER3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254531.3 7.823927 0 -6 20 0 0 1 0 NM_152698 3 8.502517 9 0.250000 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr9:80409488T>G ENST00000286548.4 - 5 848 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348 153 108.0 105.0 106.0 9 80409488 2203 4300 6503 SO:0001583 missense CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 4390 protein-coding gene gene with protein product 600998 8825633 Standard NM_002072 Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.626A>C 9.37:g.80409488T>G ENSP00000286548:p.Gln209Pro O15108|Q13462|Q6NT27|Q92471|Q9BZB9 ENST00000286548.4 37 CCDS6658.1 . . . . . . . . . . T 25.2 4.614273 0.87359 . . ENSG00000156052 ENST00000286548;ENST00000397476 D;D 0.91237 -2.81;-2.81 5.69 5.69 0.88448 . 0.000000 0.85682 D 0.000000 D 0.97164 0.9073 H 0.97291 3.975 0.80722 D 1 D 0.76494 0.999 D 0.85130 0.997 D 0.98607 1.0661 10 0.87932 D 0 . 15.9502 0.79827 0.0:0.0:0.0:1.0 . 209 P50148 GNAQ_HUMAN P 209;7 ENSP00000286548:Q209P;ENSP00000443197:Q7P ENSP00000286548:Q209P Q - 2 0 GNAQ 79599308 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 8.040000 0.89188 2.167000 0.68274 0.460000 0.39030 CAA GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052761.1 60.889629 0 -11 101 0 0 1 0 NM_002072 20 62.486991 41 0.327869 F5 2153 broad.mit.edu hg19 1 169509628 169509628 + Missense_Mutation SNP A A G TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr1:169509628A>G ENST00000367796.3 - 13 4916 c.4715T>C c.(4714-4716)aTt>aCt p.I1572T F5_ENST00000367797.3_Missense_Mutation_p.I1567T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1567 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) CCATGCTGCAATGTTGTCAGG 0.393 0 117.0 113.0 115.0 1 169509628 2203 4300 6503 SO:0001583 missense M14335 CCDS1281.1 1q23 2012-10-02 ENSG00000198734 ENSG00000198734 3542 protein-coding gene gene with protein product 612309 Standard NM_000130 Approved uc001ggg.1 P12259 OTTHUMG00000034595 ENST00000367797.3:c.4700T>C 1.37:g.169509628A>G ENSP00000356771:p.Ile1567Thr A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6 ENST00000367797.3 37 CCDS1281.1 . . . . . . . . . . A 19.97 3.924707 0.73213 . . ENSG00000198734 ENST00000367797;ENST00000367796 T;T 0.56103 0.48;0.48 5.93 5.93 0.95920 . 0.198500 0.45361 D 0.000366 T 0.43787 0.1263 M 0.83312 2.635 0.31018 N 0.718466 P 0.41080 0.737 B 0.42522 0.39 T 0.52653 -0.8547 9 0.22706 T 0.39 -22.3938 10.6744 0.45776 0.929:0.0:0.071:0.0 . 1567 P12259 FA5_HUMAN T 1567;1572 ENSP00000356771:I1567T;ENSP00000356770:I1572T ENSP00000356770:I1572T I - 2 0 F5 167776252 1.000000 0.71417 0.997000 0.53966 0.992000 0.81027 6.035000 0.70940 2.273000 0.75805 0.482000 0.46254 ATT F5-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000083712.1 122.937837 0 25 107 0 0 1 0 NM_000130 35 123.481200 23 0.603448 POU3F3 5455 broad.mit.edu hg19 2 105472298 105472298 + Silent SNP T T C TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr2:105472298T>C ENST00000361360.2 + 1 330 c.330T>C c.(328-330)gcT>gcC p.A110A RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 110 Ala-rich.|Gly-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 ccgccgccgctgccgccgccg 0.791 0 2.0 3.0 3.0 2 105472298 326 964 1290 SO:0001819 synonymous_variant CCDS33265.1 2q12.1 2011-06-20 2007-07-13 ENSG00000198914 ENSG00000198914 """Homeoboxes / POU class""" 9216 protein-coding gene gene with protein product 602480 """POU domain class 3, transcription factor 3""" Standard NM_006236 Approved BRN1, OTF8 uc010ywg.2 P20264 OTTHUMG00000153067 ENST00000361360.2:c.330T>C 2.37:g.105472298T>C P78379|Q4ZG25 ENST00000361360.2 37 CCDS33265.1 POU3F3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329335.2 11.048330 0 7 9 0 0 1 0 3 10.930470 0 1.000000 KRT40 125115 broad.mit.edu hg19 17 39137347 39137347 + Silent SNP A A T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr17:39137347A>T ENST00000377755.4 - 4 778 c.744T>A c.(742-744)acT>acA p.T248T KRT40_ENST00000398486.2_Silent_p.T248T Q6A162 K1C40_HUMAN keratin 40 248 Linker 12.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GGGTGGGGGCAGTGTCCAGCT 0.537 0 121.0 131.0 128.0 17 39137347 2074 4216 6290 SO:0001819 synonymous_variant AK093919 CCDS42320.1 17q21.2 2013-01-16 ENSG00000204889 ENSG00000204889 """-"", ""Intermediate filaments type I, keratins (acidic)""" 26707 protein-coding gene gene with protein product 16831889 Standard NM_182497 Approved FLJ36600, KA36 uc010cxh.1 Q6A162 OTTHUMG00000133596 ENST00000398486.2:c.744T>A 17.37:g.39137347A>T Q6IFU5 ENST00000398486.2 37 CCDS42320.1 KRT40-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257701.3 -33.745760 0 9 157 0 0 1 0 NM_182497 4 6.306423 156 0.025000 MYO15A 51168 hgsc.bcm.edu hg19 17 18024984 18024984 + Missense_Mutation SNP C C G TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 C C . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe TCCAGGCCACCCCCTGTGCCG 0.677 0 11.0 13.0 12.0 17 18024984 1869 4056 5925 SO:0001583 missense AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 """Myosins / Myosin superfamily : Class XV""" 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 9603736 Standard NM_016239 Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.2870C>G 17.37:g.18024984C>G ENSP00000205890:p.Pro957Arg B4DFC7 ENST00000205890.5 37 CCDS42271.1 . . . . . . . . . . c 6.308 0.424980 0.11987 . . ENSG00000091536 ENST00000205890 D 0.91237 -2.81 4.49 2.42 0.29668 . . . . . D 0.82793 0.5114 L 0.29908 0.895 0.18873 N 0.999985 P 0.37015 0.578 B 0.30855 0.121 T 0.72097 -0.4393 9 0.87932 D 0 . 9.5673 0.39407 0.3823:0.6177:0.0:0.0 . 957 Q9UKN7 MYO15_HUMAN R 957 ENSP00000205890:P957R ENSP00000205890:P957R P + 2 0 MYO15A 17965709 0.007000 0.16637 0.044000 0.18714 0.256000 0.26092 1.033000 0.30191 0.317000 0.23160 -0.521000 0.04368 CCC MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132048.1 -1 21 NM_016239 7 12 FANCA 2175 broad.mit.edu hg19 16 89831391 89831391 + Silent SNP G G C TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr16:89831391G>C ENST00000389301.3 - 28 2715 c.2685C>G c.(2683-2685)ccC>ccG p.P895P FANCA_ENST00000568369.1_Silent_p.P895P NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 895 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GAAGGTGCAAGGGTCTCCAGG 0.527 0 140.0 125.0 130.0 16 89831391 2198 4300 6498 SO:0001819 synonymous_variant Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 """Fanconi anemia, complementation groups""" 3582 protein-coding gene gene with protein product 607139 FACA, FANCH 7581462, 9382107 Standard NM_001286167 Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.2685C>G 16.37:g.89831391G>C A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 ENST00000389301.3 37 CCDS32515.1 FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000421927.1 6.242892 0 7 70 0 0 1 0 5 12.474967 38 0.116279 GMEB2 26205 broad.mit.edu hg19 20 62236107 62236107 + Missense_Mutation SNP T T C TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr20:62236107T>C ENST00000266068.1 - 2 696 c.218A>G c.(217-219)gAa>gGa p.E73G GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 73 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) TAACACGGCTTCCTTGAGCTG 0.577 0 76.0 75.0 75.0 20 62236107 2203 4300 6503 SO:0001583 missense AF173867 CCDS13528.1 20q13.33 2008-07-02 ENSG00000101216 ENSG00000101216 4371 protein-coding gene gene with protein product 607451 10523663, 11743720 Standard NM_012384 Approved P79PIF, KIAA1269, PIF79 uc002yfq.1 Q9UKD1 OTTHUMG00000032988 ENST00000266068.1:c.218A>G 20.37:g.62236107T>C ENSP00000266068:p.Glu73Gly E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1 ENST00000266068.1 37 CCDS13528.1 . . . . . . . . . . T 17.27 3.346293 0.61073 . . ENSG00000101216 ENST00000370069;ENST00000370077;ENST00000266068 T;T;T 0.68025 -0.3;0.3;0.3 4.87 4.87 0.63330 . 0.059134 0.64402 D 0.000004 T 0.47746 0.1462 N 0.08118 0 0.41882 D 0.990329 B 0.31383 0.321 B 0.30943 0.122 T 0.54702 -0.8254 10 0.56958 D 0.05 -3.4365 14.1277 0.65233 0.0:0.0:0.0:1.0 . 73 Q9UKD1 GMEB2_HUMAN G 22;73;73 ENSP00000359086:E22G;ENSP00000359094:E73G;ENSP00000266068:E73G ENSP00000266068:E73G E - 2 0 GMEB2 61706551 1.000000 0.71417 0.993000 0.49108 0.946000 0.59487 4.907000 0.63300 1.822000 0.53115 0.379000 0.24179 GAA GMEB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080166.1 83.104216 0 7 84 0 0 1 0 NM_012384 27 84.618375 50 0.350649 NLRP2 55655 broad.mit.edu hg19 19 55494140 55494140 + Silent SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr19:55494140C>T ENST00000543010.1 + 6 1217 c.1074C>T c.(1072-1074)ggC>ggT p.G358G NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000537859.1_Silent_p.G336G NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 358 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGGTGGAGGGCTTCCTGGAGG 0.622 0 34.0 32.0 33.0 19 55494140 2203 4300 6503 SO:0001819 synonymous_variant AK000517 CCDS12913.1, CCDS54318.1, CCDS54319.1 19q13.42 2008-02-05 2006-12-08 2006-12-08 ENSG00000022556 ENSG00000022556 """Nucleotide-binding domain and leucine rich repeat containing""" 22948 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2""" 609364 """NACHT, leucine rich repeat and PYD containing 2""" NALP2 12563287, 11270363 Standard NM_001174081 Approved FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9 uc021vbq.1 Q9NX02 OTTHUMG00000167763 ENST00000543010.1:c.1074C>T 19.37:g.55494140C>T B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3 ENST00000543010.1 37 CCDS12913.1 NLRP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396152.1 17.212518 0 6 31 0 0 1 0 NM_017852 7 18.462776 19 0.269231 POU3F3 5455 broad.mit.edu hg19 2 105472295 105472295 + Silent SNP C C T TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr2:105472295C>T ENST00000361360.2 + 1 327 c.327C>T c.(325-327)gcC>gcT p.A109A RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 109 Ala-rich.|Gly-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 ccgccgccgccgctgccgccg 0.781 0 2.0 3.0 3.0 2 105472295 374 1047 1421 SO:0001819 synonymous_variant CCDS33265.1 2q12.1 2011-06-20 2007-07-13 ENSG00000198914 ENSG00000198914 """Homeoboxes / POU class""" 9216 protein-coding gene gene with protein product 602480 """POU domain class 3, transcription factor 3""" Standard NM_006236 Approved BRN1, OTF8 uc010ywg.2 P20264 OTTHUMG00000153067 ENST00000361360.2:c.327C>T 2.37:g.105472295C>T P78379|Q4ZG25 ENST00000361360.2 37 CCDS33265.1 POU3F3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329335.2 11.448539 0 9 11 0 0 1 0 3 11.330699 0 1.000000 SNX4 8723 broad.mit.edu hg19 3 125223532 125223532 + Missense_Mutation SNP T T G TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr3:125223532T>G ENST00000251775.4 - 2 222 c.198A>C c.(196-198)gaA>gaC p.E66D SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 66 PX. cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 CAGTTCGTTTTTCTGCTTCTG 0.353 0 191.0 163.0 173.0 3 125223532 2203 4300 6503 SO:0001583 missense AF065485 CCDS3032.1 3q21.2 2014-02-12 ENSG00000114520 ENSG00000114520 """Sorting nexins""" 11175 protein-coding gene gene with protein product 605931 9819414 Standard NM_003794 Approved ATG24B uc003eib.4 O95219 OTTHUMG00000159575 ENST00000251775.4:c.198A>C 3.37:g.125223532T>G ENSP00000251775:p.Glu66Asp B3KMH0|B4DQV4|D3DNA3 ENST00000251775.4 37 CCDS3032.1 . . . . . . . . . . T 19.04 3.748976 0.69533 . . ENSG00000114520 ENST00000251775 T 0.45276 0.9 4.75 3.6 0.41247 Phox homologous domain (5); 0.098437 0.64402 N 0.000002 T 0.60907 0.2305 M 0.87456 2.885 0.80722 D 1 D 0.63880 0.993 P 0.61940 0.896 T 0.60757 -0.7200 10 0.36615 T 0.2 -13.2006 7.9672 0.30107 0.0:0.2356:0.0:0.7644 . 66 O95219 SNX4_HUMAN D 66 ENSP00000251775:E66D ENSP00000251775:E66D E - 3 2 SNX4 126706222 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 0.740000 0.26188 0.856000 0.35383 0.533000 0.62120 GAA SNX4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356299.1 84.117479 0 4 55 0 0 1 0 NM_003794 22 86.108866 1 0.956522 TBX5 6910 broad.mit.edu hg19 12 114823293 114823293 + Nonsense_Mutation SNP G G C TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr12:114823293G>C ENST00000310346.4 - 7 1409 c.743C>G c.(742-744)tCa>tGa p.S248* TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248* NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 248 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTGCATTCTTGACATTCTGTG 0.478 0 169.0 138.0 148.0 12 114823293 2203 4300 6503 SO:0001587 stop_gained U89353 CCDS9173.1, CCDS9174.1 12q24.1 2014-09-17 ENSG00000089225 ENSG00000089225 """T-boxes""" 11604 protein-coding gene gene with protein product 601620 HOS 8988165, 8054982 Standard NM_000192 Approved uc001tvo.4 Q99593 OTTHUMG00000166191 ENST00000310346.4:c.743C>G 12.37:g.114823293G>C ENSP00000309913:p.Ser248* A6ND77|O15301|Q96TB0|Q9Y4I2 ENST00000310346.4 37 CCDS9173.1 . . . . . . . . . . G 43 10.149025 0.99348 . . ENSG00000089225 ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441 . . . 5.27 5.27 0.74061 . 0.193142 0.46145 D 0.000301 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.35671 T 0.21 . 18.8883 0.92388 0.0:0.0:1.0:0.0 . . . . X 198;248;145;248;248 . ENSP00000309913:S248X S - 2 0 TBX5 113307676 1.000000 0.71417 0.995000 0.50966 0.997000 0.91878 9.363000 0.97131 2.472000 0.83506 0.563000 0.77884 TCA TBX5-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000388297.1 133.891157 0 3 119 0 0 1 0 NM_080717 40 134.132857 50 0.444444 KIAA0196 9897 broad.mit.edu hg19 8 126094695 126094695 + Missense_Mutation SNP A A G TCGA-V4-A9EO-01A-12D-A39W-08 TCGA-V4-A9EO-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx f54dfe8e-ee48-41ae-9981-7af83d4cdfd4 3431d1f6-4c22-4c7b-bb6e-172762efe5fe g.chr8:126094695A>G ENST00000318410.7 - 4 696 c.347T>C c.(346-348)cTc>cCc p.L116P KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 116 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCCTTCATTGAGATCATCTAG 0.264 0 60.0 60.0 60.0 8 126094695 2201 4290 6491 SO:0001583 missense CCDS6355.1 8q24.13 2014-05-09 ENSG00000164961 ENSG00000164961 28984 protein-coding gene gene with protein product """strumpellin""" 610657 """spastic paraplegia 8 (autosomal dominant)""" SPG8 9973294, 17160902, 23085491 Standard NM_014846 Approved uc003yrt.3 Q12768 OTTHUMG00000164991 ENST00000318410.7:c.347T>C 8.37:g.126094695A>G ENSP00000318016:p.Leu116Pro A8K4R7|Q3KQX5|Q8TBQ2 ENST00000318410.7 37 CCDS6355.1 . . . . . . . . . . A 22.4 4.284335 0.80803 . . ENSG00000164961 ENST00000318410 D 0.88664 -2.41 5.59 5.59 0.84812 . 0.000000 0.85682 D 0.000000 D 0.94896 0.8350 M 0.84948 2.725 0.80722 D 1 D 0.69078 0.997 D 0.83275 0.996 D 0.95600 0.8662 10 0.87932 D 0 -15.0152 15.7537 0.78009 1.0:0.0:0.0:0.0 . 116 Q12768 STRUM_HUMAN P 116 ENSP00000318016:L116P ENSP00000318016:L116P L - 2 0 KIAA0196 126163877 1.000000 0.71417 1.000000 0.80357 0.862000 0.49288 9.057000 0.93889 2.114000 0.64651 0.460000 0.39030 CTC KIAA0196-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381369.1 208.902668 0 -10 115 0 0 1 0 NM_014846 64 208.930641 60 0.516129