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 MAP3K19 80122 broad.mit.edu hg19 2 135738473 135738473 + Missense_Mutation SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr2:135738473C>T ENST00000375845.3 - 9 3868 c.3838G>A c.(3838-3840)Gga>Aga p.G1280R MAP3K19_ENST00000315513.3_Missense_Mutation_p.G141R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G462R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G412R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1167R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G414R NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CGGTGTGCTCCGATGTAAAAC 0.502 0 64.0 56.0 59.0 2 135738473 2203 4300 6503 SO:0001583 missense AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 """Mitogen-activated protein kinase cascade / Kinase kinase kinases""" 26249 protein-coding gene gene with protein product """Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)""" YSK4 12477932 Standard NM_001282883 Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.3838G>A 2.37:g.135738473C>T ENSP00000365005:p.Gly1280Arg B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 ENST00000375845.3 37 CCDS2176.2 . . . . . . . . . . C 27.4 4.824205 0.90955 . . ENSG00000176601 ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513 T;T;T;T;T;T;T 0.64618 -0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11 5.6 5.6 0.85130 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.43747 D 0.000523 T 0.69214 0.3086 N 0.20304 0.555 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 0.998;1.0;0.998;0.998;1.0 T 0.73748 -0.3885 10 0.87932 D 0 . 18.6071 0.91271 0.0:1.0:0.0:0.0 . 412;1167;414;462;1280 B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5 .;.;.;.;YSK4_HUMAN R 1280;1167;462;414;412;670;141 ENSP00000365005:G1280R;ENSP00000351140:G1167R;ENSP00000365004:G462R;ENSP00000376650:G414R;ENSP00000376649:G412R;ENSP00000392827:G670R;ENSP00000321160:G141R ENSP00000321160:G141R G - 1 0 YSK4 135454943 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 7.616000 0.83018 2.629000 0.89072 0.591000 0.81541 GGA MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000158244.1 10.729494 0 1 36 0 0 1 0 NM_025052 6 15.422610 34 0.150000 MACF1 23499 broad.mit.edu hg19 1 39796950 39796950 + Missense_Mutation SNP G G C TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr1:39796950G>C ENST00000564288.1 + 37 5467 c.4690G>C c.(4690-4692)Ggc>Cgc p.G1564R MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G1569R Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1569 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CATGCAAAAGGGCCTCCTTGA 0.453 0 60.0 56.0 57.0 1 39796950 2203 4300 6503 SO:0001583 missense AB007934 CCDS435.1 1p32-p31 2013-01-10 ENSG00000127603 ENSG00000127603 """EF-hand domain containing""" 13664 protein-coding gene gene with protein product """actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7""" 608271 7635207, 10529403 Standard NM_012090 Approved KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 uc031pmc.1 Q9UPN3 OTTHUMG00000007754 ENST00000372915.3:c.4705G>C 1.37:g.39796950G>C ENSP00000362006:p.Gly1569Arg B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 ENST00000372915.3 37 . . . . . . . . . . G 17.67 3.447103 0.63178 . . ENSG00000127603 ENST00000372915;ENST00000289893 T;T 0.74421 -0.84;-0.84 5.96 5.96 0.96718 . 0.000000 0.56097 D 0.000030 D 0.86707 0.5997 M 0.72118 2.19 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.86701 0.1929 10 0.87932 D 0 . 20.4192 0.99033 0.0:0.0:1.0:0.0 . 1569 Q9UPN3 MACF1_HUMAN R 1569;4 ENSP00000362006:G1569R;ENSP00000289893:G4R ENSP00000289893:G4R G + 1 0 MACF1 39569537 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 9.750000 0.98875 2.831000 0.97527 0.650000 0.86243 GGC MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000392096.1 10.855415 0 14 50 0 0 1 0 NM_033044 5 14.238404 26 0.161290 NWD1 284434 broad.mit.edu hg19 19 16861023 16861023 + Missense_Mutation SNP T T A TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr19:16861023T>A ENST00000524140.2 + 6 1988 c.1570T>A c.(1570-1572)Tgg>Agg p.W524R NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R|NWD1_ENST00000552788.1_Missense_Mutation_p.W524R|NWD1_ENST00000523826.1_Missense_Mutation_p.W318R NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 524 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGATTTGCTCTGGGCCAGCCT 0.637 0 33.0 34.0 33.0 19 16861023 2202 4298 6500 SO:0001583 missense BX648940 CCDS32945.1, CCDS32945.2 19p13.11 2013-01-09 ENSG00000188039 """WD repeat domain containing""" 27619 protein-coding gene gene with protein product Standard NM_001007525 Approved uc002neu.4 Q149M9 ENST00000524140.2:c.1570T>A 19.37:g.16861023T>A ENSP00000428579:p.Trp524Arg C9J021|Q68CT3 ENST00000524140.2 37 CCDS32945.2 . . . . . . . . . . t 15.34 2.805787 0.50421 . . ENSG00000188039 ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803 T;T;T;T;T;T 0.55052 0.54;0.6;0.54;0.55;0.6;0.6 5.04 4.02 0.46733 . 0.242048 0.35207 N 0.003377 T 0.59059 0.2166 L 0.36672 1.1 0.31585 N 0.654591 B;P;D 0.76494 0.251;0.552;0.999 B;B;D 0.85130 0.038;0.157;0.997 T 0.62714 -0.6796 10 0.48119 T 0.1 -19.6071 8.555 0.33476 0.0:0.0933:0.0:0.9067 . 524;524;389 Q149M9;Q149M9-3;C9J2Y8 NWD1_HUMAN;.;. R 389;524;524;524;318;524;389 ENSP00000428579:W524R;ENSP00000447548:W524R;ENSP00000369136:W524R;ENSP00000428955:W318R;ENSP00000447224:W524R;ENSP00000340159:W389R ENSP00000340159:W389R W + 1 0 NWD1 16722023 0.984000 0.35163 0.935000 0.37517 0.659000 0.38960 1.401000 0.34589 0.780000 0.33566 0.448000 0.29417 TGG NWD1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000379040.3 -1.610438 0 -9 38 0 0 1 0 NM_001007525 3 6.608614 40 0.069767 DTNA 1837 broad.mit.edu hg19 18 32459684 32459684 + Splice_Site SNP G G A TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr18:32459684G>A ENST00000283365.9 + 19 2261 c.e19+1 DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000399113.3_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000444659.1_Splice_Site NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GTGGCGACATGTGAGTATCTT 0.423 0 58.0 54.0 55.0 18 32459684 2203 4300 6503 SO:0001630 splice_region_variant U84540 CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1 18q12 2014-09-17 ENSG00000134769 ENSG00000134769 3057 protein-coding gene gene with protein product """dystrophin-related protein 3""" 601239 8081380, 15834686 Standard NM_001390 Approved D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3 uc010dmn.1 Q9Y4J8 OTTHUMG00000132309 ENST00000399113.3:c.2081+1G>A 18.37:g.32459684G>A A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59 ENST00000399113.3 37 CCDS59311.1 . . . . . . . . . . G 11.65 1.701312 0.30142 . . ENSG00000134769 ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414 . . . 5.12 5.12 0.69794 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.0969 0.86637 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . DTNA 30713682 1.000000 0.71417 0.953000 0.39169 0.068000 0.16541 7.003000 0.76310 2.545000 0.85829 0.655000 0.94253 . DTNA-005 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255422.2 20.650755 0 6 41 0 0 1 0 NM_001390 9 23.817959 33 0.214286 CTC-457E21.6 0 broad.mit.edu hg19 19 22785642 22785642 + RNA SNP G G A TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr19:22785642G>A ENST00000600260.1 + 0 1649 NR_033899.1 GAGCAGCACCGAGAGGAGGAG 0.672 0 19.37:g.22785642G>A ENST00000599738.1 37 CTC-457E21.6-001 KNOWN basic|readthrough_transcript processed_transcript processed_transcript OTTHUMT00000464575.1 10.996514 0 6 19 0 0 1 0 4 11.176661 7 0.363636 BPIFB1 92747 broad.mit.edu hg19 20 31890861 31890861 + Missense_Mutation SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr20:31890861C>T ENST00000253354.1 + 11 1282 c.1121C>T c.(1120-1122)cCt>cTt p.P374L BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 374 extracellular space lipid binding GCCCTCCGCCCTTTGTTCACC 0.532 0 109.0 90.0 96.0 20 31890861 2203 4300 6503 SO:0001583 missense BC008429 CCDS13218.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000125999 ENSG00000125999 """BPI fold containing""" 16108 protein-coding gene gene with protein product """von Ebner minor salivary gland protein""" """chromosome 20 open reading frame 114""" C20orf114 11971875, 21787333 Standard NM_033197 Approved dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP uc002wyw.1 Q8TDL5 OTTHUMG00000032252 ENST00000253354.1:c.1121C>T 20.37:g.31890861C>T ENSP00000253354:p.Pro374Leu A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6 ENST00000253354.1 37 CCDS13218.1 . . . . . . . . . . C 19.58 3.854591 0.71719 . . ENSG00000125999 ENST00000253354 T 0.09163 3.01 5.27 5.27 0.74061 . 0.091223 0.48767 D 0.000161 T 0.32194 0.0821 M 0.72894 2.215 0.43703 D 0.996166 D 0.89917 1.0 D 0.97110 1.0 T 0.01114 -1.1447 10 0.87932 D 0 -35.3612 14.2532 0.66033 0.0:1.0:0.0:0.0 . 374 Q8TDL5 BPIB1_HUMAN L 374 ENSP00000253354:P374L ENSP00000253354:P374L P + 2 0 BPIFB1 31354522 0.437000 0.25593 0.852000 0.33557 0.121000 0.20230 3.320000 0.51991 2.742000 0.94016 0.455000 0.32223 CCT BPIFB1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106499.2 -7.463367 0 -13 88 0 0 1 0 NM_033197 4 8.883091 73 0.051948 RPS6KA6 27330 broad.mit.edu hg19 X 83374915 83374915 + Missense_Mutation SNP C C G TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chrX:83374915C>G ENST00000262752.2 - 9 774 c.767G>C c.(766-768)tGg>tCg p.W256S RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 256 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATATGACCACCAATCAGCACT 0.338 0 82.0 72.0 75.0 X 83374915 2203 4299 6502 SO:0001583 missense AF184965 CCDS14451.1 Xq21.1 2011-04-05 2002-08-29 ENSG00000072133 ENSG00000072133 10435 protein-coding gene gene with protein product 300303 """ribosomal protein S6 kinase, 90kD, polypeptide 6""" 10644430 Standard NM_014496 Approved RSK4 uc004eej.2 Q9UK32 OTTHUMG00000021923 ENST00000262752.2:c.767G>C X.37:g.83374915C>G ENSP00000262752:p.Trp256Ser B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6 ENST00000262752.2 37 CCDS14451.1 . . . . . . . . . . C 20.6 4.021606 0.75275 . . ENSG00000072133 ENST00000262752;ENST00000543399 T;T 0.24723 1.84;1.84 5.42 5.42 0.78866 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.56934 0.2019 M 0.83012 2.62 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.87578 0.998;0.998 T 0.63875 -0.6538 10 0.87932 D 0 . 18.2405 0.89966 0.0:1.0:0.0:0.0 . 256;256 B7ZL90;Q9UK32 .;KS6A6_HUMAN S 256 ENSP00000262752:W256S;ENSP00000440830:W256S ENSP00000262752:W256S W - 2 0 RPS6KA6 83261571 1.000000 0.71417 1.000000 0.80357 0.838000 0.47535 7.642000 0.83385 2.245000 0.73994 0.600000 0.82982 TGG RPS6KA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057372.1 73.291220 0 -64 82 0 0 1 0 NM_014496 24 73.540395 32 0.428571 ZNF197 10168 broad.mit.edu hg19 3 44670659 44670659 + Missense_Mutation SNP A A G TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr3:44670659A>G ENST00000396058.1 + 1 180 c.13A>G c.(13-15)Aat>Gat p.N5D RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D O14709 ZN197_HUMAN zinc finger protein 197 5 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GACAAGAGAAAATGTAGCCCA 0.458 0 111.0 120.0 117.0 3 44670659 2203 4300 6503 SO:0001583 missense AF011573 CCDS2717.1, CCDS33743.1 3p21 2013-01-09 2003-10-07 ENSG00000186448 ENSG00000186448 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 12988 protein-coding gene gene with protein product """zinc finger protein 166""" ZNF166 9380504, 8353497 Standard XM_005264783 Approved P18, D3S1363E, ZKSCAN9, ZSCAN41 uc003cnm.3 O14709 OTTHUMG00000133089 ENST00000396058.1:c.13A>G 3.37:g.44670659A>G ENSP00000379370:p.Asn5Asp B2RAH8|Q86VG0 ENST00000396058.1 37 CCDS2717.1 . . . . . . . . . . A 19.40 3.819714 0.71028 . . ENSG00000186448 ENST00000412641;ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058 T;T;T;T;T 0.10763 2.84;5.66;3.37;5.66;3.37 4.23 4.23 0.50019 . 0.836377 0.09995 N 0.729217 T 0.14485 0.0350 N 0.08118 0 0.22389 N 0.999141 P;D 0.58268 0.877;0.982 B;D 0.67548 0.339;0.952 T 0.36114 -0.9761 10 0.48119 T 0.1 . 9.8955 0.41316 1.0:0.0:0.0:0.0 . 5;5 Q86VG0;O14709 .;ZN197_HUMAN D 5 ENSP00000394713:N5D;ENSP00000373250:N5D;ENSP00000345809:N5D;ENSP00000373251:N5D;ENSP00000379370:N5D ENSP00000334616:N5D N + 1 0 ZNF197 44645663 0.912000 0.30974 0.909000 0.35828 0.955000 0.61496 2.213000 0.42844 1.914000 0.55421 0.459000 0.35465 AAT ZNF197-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256747.4 46.075024 0 0 105 0 0 1 0 NM_006991 16 48.859775 43 0.271186 ITPR2 3709 broad.mit.edu hg19 12 26943118 26943118 + Silent SNP G G A TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr12:26943118G>A ENST00000381340.3 - 2 551 c.135C>T c.(133-135)gaC>gaT p.D45D ITPR2_ENST00000242737.5_Silent_p.D45D NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 45 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GGTTGGCAAGGTCCCCGGCCT 0.393 0 96.0 94.0 95.0 12 26943118 1899 4140 6039 SO:0001819 synonymous_variant D26350 CCDS41764.1 12p11.23 2014-07-18 2011-04-28 ENSG00000123104 ENSG00000123104 """Ion channels / Inositol triphosphate receptors""" 6181 protein-coding gene gene with protein product """cilia and flagella associated protein 48""" 600144 """inositol 1,4,5-triphosphate receptor, type 2""" 8081734 Standard XM_006719064 Approved IP3R2, CFAP48 uc001rhg.3 Q14571 OTTHUMG00000169181 ENST00000381340.3:c.135C>T 12.37:g.26943118G>A O94773 ENST00000381340.3 37 CCDS41764.1 ITPR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402732.1 35.989786 0 13 95 0 0 1 0 NM_002223 15 40.876496 53 0.220588 GDAP1L1 78997 broad.mit.edu hg19 20 42907913 42907913 + Silent SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr20:42907913C>T ENST00000342560.5 + 6 1165 c.1077C>T c.(1075-1077)taC>taT p.Y359Y GDAP1L1_ENST00000537864.1_Silent_p.Y167Y NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 359 endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ACTTTGCCTACTGGTACCTCA 0.562 0 93.0 87.0 89.0 20 42907913 2203 4300 6503 SO:0001819 synonymous_variant CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1 20q12 2012-02-09 2012-02-09 ENSG00000124194 ENSG00000124194 4213 protein-coding gene gene with protein product Standard NM_024034 Approved uc010zwl.3 Q96MZ0 OTTHUMG00000032530 ENST00000342560.5:c.1077C>T 20.37:g.42907913C>T B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5 ENST00000342560.5 37 CCDS13328.1 GDAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079356.1 32.744912 0 29 123 0 0 1 0 NM_024034 16 41.977211 76 0.173913 WDR25 79446 broad.mit.edu hg19 14 100996252 100996252 + Silent SNP C C T rs148470180 byFrequency TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr14:100996252C>T ENST00000335290.6 + 7 1735 c.1509C>T c.(1507-1509)cgC>cgT p.R503R WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R|WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 503 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) ACAGCTTCCGCACAGCCAGCC 0.677 0 77.0 74.0 75.0 14 100996252 2203 4300 6503 SO:0001819 synonymous_variant BC007953 CCDS32157.1 14q32.32 2013-01-09 ENSG00000176473 """WD repeat domain containing""" 21064 protein-coding gene gene with protein product """chromosome 14 open reading frame 67""" C14orf67 15587985 Standard NM_001161476 Approved MGC4645 uc001yhn.3 Q64LD2 ENST00000335290.6:c.1509C>T 14.37:g.100996252C>T A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5 ENST00000335290.6 37 CCDS32157.1 WDR25-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414312.1 28.535980 0 12 91 0 0 1 0 NM_024515 13 33.978589 52 0.200000 VGLL2 245806 broad.mit.edu hg19 6 117589488 117589488 + Silent SNP A A C TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr6:117589488A>C ENST00000326274.5 + 2 415 c.225A>C c.(223-225)ccA>ccC p.P75P VGLL2_ENST00000352536.3_Silent_p.P75P NM_182645.3 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 75 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) AAGAGCGCCCACCAGAGGCAG 0.577 0 103.0 118.0 113.0 6 117589488 2203 4300 6503 SO:0001819 synonymous_variant AY056583 CCDS5114.1, CCDS5115.1 6q22.31 2014-03-03 2014-03-03 ENSG00000170162 ENSG00000170162 20232 protein-coding gene gene with protein product 609979 """vestigial like 2 (Drosophila)""" 12376544 Standard NM_153453 Approved uc003pxn.3 Q8N8G2 OTTHUMG00000015451 ENST00000326274.5:c.225A>C 6.37:g.117589488A>C Q8WWX1 ENST00000326274.5 37 CCDS5115.1 VGLL2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041975.2 -12.215597 0 -10 160 0 0 1 0 NM_153453 8 7.970383 99 0.074766 CACNA1A 773 broad.mit.edu hg19 19 13322958 13322958 + Missense_Mutation SNP C C G TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr19:13322958C>G ENST00000360228.5 - 43 6261 c.6262G>C c.(6262-6264)Ggc>Cgc p.G2088R CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2089 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) GCAGCCCGGCCCTGGCCTTCC 0.647 0 35.0 37.0 36.0 19 13322958 2052 4194 6246 SO:0001583 missense U79666 CCDS45998.1, CCDS45999.1 19p13 2014-09-17 ENSG00000141837 ENSG00000141837 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1388 protein-coding gene gene with protein product 601011 CACNL1A4, SCA6, MHP1, MHP 8825650, 16382099, 23827678 Standard NM_000068 Approved Cav2.1, EA2, APCA, HPCA, FHM uc010xne.2 O00555 OTTHUMG00000044590 ENST00000360228.5:c.6262G>C 19.37:g.13322958C>G ENSP00000353362:p.Gly2088Arg J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4 ENST00000360228.5 37 CCDS45998.1 . . . . . . . . . . C 14.90 2.673063 0.47781 . . ENSG00000141837 ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084 T 0.77750 -1.12 4.45 2.3 0.28687 . 0.628034 0.12091 U 0.500407 T 0.82231 0.4992 M 0.78456 2.415 0.35816 D 0.82425 B;P;B;B 0.35527 0.065;0.507;0.151;0.373 B;P;B;B 0.46629 0.075;0.522;0.212;0.221 T 0.82442 -0.0455 10 0.87932 D 0 . 8.7467 0.34591 0.0:0.8061:0.0:0.1939 . 2089;2094;2088;2089 O00555;E9PD31;Q9NS88;E7EVF2 CAC1A_HUMAN;.;.;. R 2088;2094;2089;2089 ENSP00000353362:G2088R ENSP00000317661:G2089R G - 1 0 CACNA1A 13183958 1.000000 0.71417 0.998000 0.56505 0.942000 0.58702 3.600000 0.54052 0.325000 0.23359 -0.350000 0.07774 GGC CACNA1A-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000104062.2 -3.415979 0 -8 42 0 0 1 0 NM_000068 3 6.705430 47 0.060000 RAB11FIP5 26056 broad.mit.edu hg19 2 73316089 73316089 + Silent SNP G G A TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr2:73316089G>A ENST00000258098.6 - 2 1026 c.786C>T c.(784-786)agC>agT p.S262S RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 262 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCAAGCTCCCGCTGGCTGAGG 0.647 0 50.0 49.0 49.0 2 73316089 2203 4300 6503 SO:0001819 synonymous_variant AF334812 CCDS1923.1 2p13 2008-02-05 ENSG00000135631 ENSG00000135631 24845 protein-coding gene gene with protein product 605536 10048485, 11163216 Standard NM_015470 Approved GAF1, KIAA0857, RIP11, pp75 uc002sis.4 Q9BXF6 OTTHUMG00000129779 ENST00000258098.6:c.786C>T 2.37:g.73316089G>A O94939|Q9P0M1 ENST00000258098.6 37 CCDS1923.1 RAB11FIP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251995.1 14.768037 0 5 54 0 0 1 0 NM_015470 8 20.497255 43 0.156863 AKAP9 10142 broad.mit.edu hg19 7 91659258 91659258 + Missense_Mutation SNP A A G TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr7:91659258A>G ENST00000359028.2 + 16 4459 c.4234A>G c.(4234-4236)Atg>Gtg p.M1412V AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1412 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGAGAACAATGTACCCTGG 0.284 0 117.0 125.0 122.0 7 91659258 2203 4299 6502 SO:0001583 missense AF091711 CCDS5622.1 7q21-q22 2014-09-17 2013-09-25 ENSG00000127914 ENSG00000127914 """A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 379 protein-coding gene gene with protein product """A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao""" 604001 9482789, 10390370, 24475373 Standard NM_147185 Approved KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 uc003ulg.3 Q99996 OTTHUMG00000131127 ENST00000356239.3:c.4198A>G 7.37:g.91659258A>G ENSP00000348573:p.Met1400Val A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2 ENST00000356239.3 37 CCDS5622.1 . . . . . . . . . . A 0.526 -0.859961 0.02610 . . ENSG00000127914 ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565 T;T;T 0.02631 4.22;4.22;4.22 4.2 -7.84 0.01196 . 1.213510 0.06130 N 0.670473 T 0.00906 0.0030 N 0.00483 -1.445 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.50083 -0.8869 10 0.02654 T 1 . 16.1099 0.81255 0.2421:0.0:0.7579:0.0 . 1412;1400;1400;1412 Q99996;Q99996-2;Q99996-3;A4D1E4 AKAP9_HUMAN;.;.;. V 1400;1412;1412;1412;1412 ENSP00000348573:M1400V;ENSP00000351922:M1412V;ENSP00000350813:M1412V ENSP00000348573:M1400V M + 1 0 AKAP9 91497194 0.000000 0.05858 0.000000 0.03702 0.274000 0.26718 -1.790000 0.01759 -1.748000 0.01332 -0.361000 0.07541 ATG AKAP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253808.2 32.736614 0 -4 105 0 0 1 0 NM_005751 13 38.587643 54 0.194030 CLCN5 1184 broad.mit.edu hg19 X 49845342 49845342 + Missense_Mutation SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chrX:49845342C>T ENST00000376088.3 + 8 1336 c.695C>T c.(694-696)gCg>gTg p.A232V CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000307367.2_Missense_Mutation_p.A162V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 162 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) AAGGTGTTTGCGCCTTATGCC 0.413 0 193.0 146.0 162.0 X 49845342 2203 4300 6503 SO:0001583 missense X91906 CCDS14328.1, CCDS48115.1, CCDS69763.1 Xp11.23-p11.22 2012-09-26 2012-02-23 ENSG00000171365 ENSG00000171365 """Ion channels / Chloride channels : Voltage-sensitive""" 2023 protein-coding gene gene with protein product """Dent disease""" 300008 """nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5""" NPHL2, NPHL1 7874126, 8111383, 8099916, 8559248, 9602200 Standard NM_001272102 Approved DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5 uc004doq.1 P51795 OTTHUMG00000021514 ENST00000307367.2:c.485C>T X.37:g.49845342C>T ENSP00000304257:p.Ala162Val A1L475|B3KPN6|Q5JQD5|Q7RTN8 ENST00000307367.2 37 CCDS14328.1 . . . . . . . . . . C 34 5.356618 0.95854 . . ENSG00000171365 ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367 D;D;D;D 0.95001 -3.58;-3.58;-3.58;-3.58 5.45 5.45 0.79879 Chloride channel, core (2); 0.000000 0.85682 D 0.000000 D 0.97757 0.9264 M 0.91612 3.225 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.78314 0.983;0.991 D 0.98166 1.0449 10 0.49607 T 0.09 . 16.9775 0.86317 0.0:1.0:0.0:0.0 . 162;232 P51795;P51795-2 CLCN5_HUMAN;. V 232;64;232;162;162 ENSP00000365256:A232V;ENSP00000365259:A232V;ENSP00000365276:A162V;ENSP00000304257:A162V ENSP00000304257:A162V A + 2 0 CLCN5 49732082 1.000000 0.71417 0.972000 0.41901 0.991000 0.79684 7.692000 0.84203 2.270000 0.75569 0.594000 0.82650 GCG CLCN5-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056544.1 -5.222240 0 -53 61 0 0 1 0 3 6.829518 54 0.052632 MCHR2 84539 broad.mit.edu hg19 6 100369077 100369077 + Silent SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr6:100369077C>T ENST00000281806.2 - 6 1076 c.762G>A c.(760-762)ctG>ctA p.L254L MCHR2_ENST00000369212.2_Silent_p.L254L NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 254 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CCACCAGCACCAGCACCATCT 0.458 0 207.0 192.0 197.0 6 100369077 2203 4300 6503 SO:0001819 synonymous_variant AF347063 CCDS5044.1 6q16 2012-08-08 2006-02-15 2006-02-15 ENSG00000152034 ENSG00000152034 """GPCR / Class A : MCH receptors""" 20867 protein-coding gene gene with protein product 606111 """G protein-coupled receptor 145""" GPR145 11355873, 11274220 Standard NM_032503 Approved SLT, MCH2, MCH2R uc003pqi.1 Q969V1 OTTHUMG00000015270 ENST00000281806.2:c.762G>A 6.37:g.100369077C>T B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8 ENST00000281806.2 37 CCDS5044.1 MCHR2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041620.2 25.124616 0 2 114 0 0 1 0 NM_032503 13 33.122914 64 0.168831 TEP1 7011 ucsc.edu hg19 14 20837006 20837006 + Missense_Mutation SNP G G T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 G G Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e GTCCTTCGAAGCTGTCACCAG 0.542 0 109.0 83.0 92.0 14 20837006 2203 4300 6503 SO:0001583 missense CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 """WD repeat domain containing""" 11726 protein-coding gene gene with protein product """TROVE domain family, member 1""" 601686 9403057 Standard NM_007110 Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000556935.1:c.7388C>A 14.37:g.20837006G>T ENSP00000452574:p.Ala2463Asp A0AUV9 ENST00000556935.1 37 . . . . . . . . . . G 23.5 4.422869 0.83559 . . ENSG00000129566 ENST00000262715;ENST00000359243;ENST00000556935 T;T 0.65364 -0.15;-0.15 5.71 4.8 0.61643 WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.76263 0.3963 M 0.72894 2.215 0.80722 D 1 D;D 0.63046 0.989;0.992 P;D 0.65443 0.892;0.935 T 0.79347 -0.1841 10 0.87932 D 0 -5.4705 13.7739 0.63041 0.0:0.1542:0.8458:0.0 . 2463;2571 G3V5X7;Q99973 .;TEP1_HUMAN D 2571;2563;2463 ENSP00000262715:A2571D;ENSP00000452574:A2463D ENSP00000262715:A2571D A - 2 0 TEP1 19906846 1.000000 0.71417 0.994000 0.49952 0.997000 0.91878 3.363000 0.52321 1.381000 0.46364 0.591000 0.81541 GCT TEP1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000410689.1 1 39 NM_007110 4 21 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e 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 43.167001 0 -28 84 0 0 1 0 NM_002072 16 47.159472 50 0.242424 DYSF 8291 broad.mit.edu hg19 2 71755450 71755450 + Silent SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr2:71755450C>T ENST00000258104.3 + 13 1480 c.1203C>T c.(1201-1203)aaC>aaT p.N401N DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000409651.1_Silent_p.N433N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000410041.1_Silent_p.N433N NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 401 C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TGATGGACAACGTGAAACAGA 0.537 0 128.0 95.0 106.0 2 71755450 2203 4300 6503 SO:0001819 synonymous_variant AF075575 CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1 2p13.3 2014-09-17 2013-09-12 ENSG00000135636 ENSG00000135636 3097 protein-coding gene gene with protein product """fer-1-like family member 1""" 603009 """limb girdle muscular dystrophy 2B (autosomal recessive)""" LGMD2B 8320700 Standard NM_003494 Approved FER1L1 uc010fen.3 O75923 OTTHUMG00000129757 ENST00000410020.3:c.1299C>T 2.37:g.71755450C>T A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7 ENST00000410020.3 37 CCDS46328.1 DYSF-007 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327477.2 10.492243 0 1 24 0 0 1 0 NM_003494 4 11.401236 12 0.250000 ANKRD20A11P 0 broad.mit.edu hg19 21 15352075 15352075 + RNA SNP G G A TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr21:15352075G>A ENST00000344693.5 - 0 683 NR_027270.1 GCCAGACAGCGCTCCATCTCC 0.667 0 21q11.2 2011-11-23 ENSG00000215559 ENSG00000215559 42024 pseudogene pseudogene """chromosome 21 open reading frame 81""" C21orf81 Standard NR_027270 Approved uc002yjj.4 OTTHUMG00000074237 21.37:g.15352075G>A ENST00000344693.5 37 ANKRD20A11P-005 KNOWN basic processed_transcript pseudogene OTTHUMT00000157750.1 5.980328 0 5 27 0 0 1 0 4 9.657279 25 0.137931 TTN 7273 broad.mit.edu hg19 2 179583473 179583473 + Missense_Mutation SNP C C T TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr2:179583473C>T ENST00000589042.1 - 84 24678 c.24454G>A c.(24454-24456)Gtt>Att p.V8152I TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7835I|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7835 Ig-like 64. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATTTGTAACGAGGCAAGAA 0.423 0 76.0 77.0 77.0 2 179583473 1988 4166 6154 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.24454G>A 2.37:g.179583473C>T ENSP00000467141:p.Val8152Ile A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 ENST00000589042.1 37 CCDS59435.1 . . . . . . . . . . C 10.01 1.233408 0.22626 . . ENSG00000155657 ENST00000342992 T 0.70749 -0.51 6.01 6.01 0.97437 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.66616 0.2807 L 0.49350 1.555 0.39248 D 0.963987 B 0.16603 0.018 B 0.18263 0.021 T 0.65286 -0.6205 9 0.87932 D 0 . 13.6832 0.62499 0.0:0.9299:0.0:0.0701 . 7835 Q8WZ42 TITIN_HUMAN I 6908 ENSP00000343764:V6908I ENSP00000343764:V6908I V - 1 0 TTN 179291718 0.429000 0.25530 0.598000 0.28837 0.995000 0.86356 1.079000 0.30766 2.861000 0.98227 0.650000 0.86243 GTT TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 28.469555 0 25 90 0 0 1 0 NM_133378 12 32.690766 44 0.214286 HHAT 55733 broad.mit.edu hg19 1 210522378 210522378 + Missense_Mutation SNP A A G TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr1:210522378A>G ENST00000367010.1 + 2 286 c.59A>G c.(58-60)tAt>tGt p.Y20C HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 20 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TTCCACTTCTATTCCTTCTAT 0.493 0 117.0 100.0 106.0 1 210522378 2203 4300 6503 SO:0001583 missense AK001586 CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1 1q32 2008-02-05 ENSG00000054392 ENSG00000054392 18270 protein-coding gene gene with protein product 605743 11160356 Standard NM_001170587 Approved FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2 uc009xcx.3 Q5VTY9 OTTHUMG00000036447 ENST00000367010.1:c.59A>G 1.37:g.210522378A>G ENSP00000355977:p.Tyr20Cys B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8 ENST00000367010.1 37 CCDS1495.1 . . . . . . . . . . a 17.80 3.479094 0.63849 . . ENSG00000054392 ENST00000413764;ENST00000541565;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010 T;T;T;T;T;T 0.58210 2.01;0.35;1.62;1.99;2.01;2.01 5.01 3.89 0.44902 . 0.133891 0.52532 D 0.000080 T 0.62672 0.2447 L 0.59436 1.845 0.80722 D 1 D;D;D 0.71674 0.986;0.986;0.998 P;P;D 0.66602 0.754;0.754;0.945 T 0.61108 -0.7129 10 0.48119 T 0.1 -4.3791 7.9863 0.30213 0.9024:0.0:0.0976:0.0 . 20;20;20 B7Z4D5;B7Z5I1;Q5VTY9 .;.;HHAT_HUMAN C 20 ENSP00000416845:Y20C;ENSP00000444995:Y20C;ENSP00000442625:Y20C;ENSP00000375773:Y20C;ENSP00000261458:Y20C;ENSP00000355977:Y20C ENSP00000261458:Y20C Y + 2 0 HHAT 208589001 1.000000 0.71417 1.000000 0.80357 0.939000 0.58152 3.407000 0.52644 0.880000 0.35969 0.533000 0.62120 TAT HHAT-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088662.1 42.399675 0 12 63 0 0 1 0 NM_018194 15 45.290755 42 0.263158 MROH2B 133558 broad.mit.edu hg19 5 41039566 41039566 + Frame_Shift_Del DEL A A - TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr5:41039566delA ENST00000399564.4 - 20 2495 c.2045delT c.(2044-2046)ttcfs p.F682fs MROH2B_ENST00000506092.2_Frame_Shift_Del_p.F237fs NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCGATTCATGAAAAACTTTTC 0.323 0 46.0 44.0 45.0 5 41039566 1823 4071 5894 SO:0001589 frameshift_variant CCDS47202.1 5p13.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000171495 ENSG00000171495 """maestro heat-like repeat containing""" 26857 protein-coding gene gene with protein product """HEAT repeat family member 7B2""" HEATR7B2 12477932 Standard NM_173489 Approved DKFZp781F0822, FLJ40243 uc003jmj.4 Q7Z745 OTTHUMG00000162151 ENST00000399564.4:c.2045delT 5.37:g.41039566delA ENSP00000382476:p.Phe682fs Q68DM1|Q7Z4U4|Q8N7X3 ENST00000399564.4 37 CCDS47202.1 MROH2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367558.2 . . 1 11 NM_173489 5 7 0.42 PANK4 55229 broad.mit.edu hg19 1 2451274 2451274 + Frame_Shift_Del DEL G G - TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr1:2451274delG ENST00000378466.3 - 6 831 c.819delC c.(817-819)gccfs p.A273fs PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 273 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CGAAGCTGCTGGCGATGAGGT 0.682 0 18.0 22.0 21.0 1 2451274 2178 4274 6452 SO:0001589 frameshift_variant AK001644 CCDS42.1 1p36.32 2008-02-05 ENSG00000157881 ENSG00000157881 19366 protein-coding gene gene with protein product 606162 11479594 Standard XR_241034 Approved FLJ10782 uc001ajm.1 Q9NVE7 OTTHUMG00000000791 ENST00000378466.3:c.819delC 1.37:g.2451274delG ENSP00000367727:p.Ala273fs B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5 ENST00000378466.3 37 CCDS42.1 PANK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000002082.1 . . 3 11 2 4 0.33 PRKDC 5591 broad.mit.edu hg19 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-VD-A8KM-01A-11D-A39W-08 TCGA-VD-A8KM-10C-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87 69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)aggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 0 248.0 251.0 250.0 8 48746799 1981 4176 6157 SO:0001589 frameshift_variant CCDS75734.1, CCDS75735.1 8q11 2014-09-17 ENSG00000253729 9413 protein-coding gene gene with protein product 600899 HYRC, HYRC1 7638222 Standard NM_001081640 Approved DNPK1, p350, DNAPK, XRCC7, DNA-PKcs uc003xqi.3 P78527 ENST00000314191.2:c.8107delA 8.37:g.48746799delT ENSP00000313420:p.Arg2703fs P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3 ENST00000314191.2 37 PRKDC-201 KNOWN basic|appris_principal protein_coding protein_coding . . -6 285 NM_001081640 7 386 0.02