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 ZMYM3 9203 ucsc.edu hg19 X 70468373 70468373 + Missense_Mutation SNP C C T TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 C C Unknown Untested Somatic Phase_I WXS none Illumina HiSeq c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb AGGGCTTGTGCGCTGGAGGGA 0.607 0 32.0 30.0 31.0 X 70468373 2203 4300 6503 SO:0001630 splice_region_variant AB002383 CCDS14409.1, CCDS55443.1, CCDS55444.1 Xq13.1 2013-01-08 2005-12-19 2005-12-19 ENSG00000147130 ENSG00000147130 """Zinc fingers, MYM type""" 13054 protein-coding gene gene with protein product 300061 """zinc finger protein 261""" ZNF261 10486218 Standard NM_201599 Approved ZNF198L2, DXS6673E, KIAA0385, MYM uc004dzh.2 Q14202 OTTHUMG00000021799 ENST00000353904.2:c.1738-1G>A X.37:g.70468373C>T D3DVV3|O15089|Q96E26 ENST00000353904.2 37 CCDS14409.1 . . . . . . . . . . c 1.777 -0.482793 0.04383 0.0 1.49E-4 ENSG00000147130 ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988 T;T;T;T;T 0.43688 1.52;0.94;1.52;1.52;1.52 5.27 3.35 0.38373 TRASH (1); 0.356856 0.23779 N 0.044656 T 0.22399 0.0540 N 0.12182 0.205 0.21147 N 0.999775 B;B 0.19706 0.038;0.022 B;B 0.13407 0.009;0.004 T 0.13575 -1.0504 10 0.30854 T 0.27 -6.7912 8.5121 0.33224 0.1527:0.7642:0.0:0.0832 . 580;580 Q14202-2;Q14202 .;ZMYM3_HUMAN H 580;580;580;582;582 ENSP00000322845:R580H;ENSP00000363110:R580H;ENSP00000343909:R580H;ENSP00000363096:R582H;ENSP00000363100:R582H ENSP00000322845:R580H R - 2 0 ZMYM3 70385098 0.072000 0.21174 1.000000 0.80357 0.488000 0.33401 0.125000 0.15749 0.990000 0.38787 0.183000 0.17082 CGC ZMYM3-201 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000057154.1 3 26 NM_201599 4 11 MRPS35 60488 broad.mit.edu hg19 12 27863872 27863872 + Silent SNP C C T TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr12:27863872C>T ENST00000081029.3 + 1 167 c.96C>T c.(94-96)gtC>gtT p.V32V MRPS35_ENST00000538315.1_Silent_p.V32V NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 32 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) CCACTCCGGTCCCGACACCTA 0.652 0 59.0 47.0 51.0 12 27863872 2203 4300 6503 SO:0001819 synonymous_variant AF182422 CCDS8714.1, CCDS53769.1 12p11 2012-09-13 ENSG00000061794 ENSG00000061794 """Mitochondrial ribosomal proteins / small subunits""" 16635 protein-coding gene gene with protein product 611995 11279123 Standard NM_021821 Approved MRPS28, MDS023 uc001rih.3 P82673 OTTHUMG00000169215 ENST00000081029.3:c.96C>T 12.37:g.27863872C>T B2RDZ7|Q96Q21 ENST00000081029.3 37 CCDS8714.1 MRPS35-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402897.1 14.774251 0 -7 21 0 0 1 0 NM_021821 5 14.774251 5 0.500000 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T A rs121913492 TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr9:80409488T>A ENST00000286548.4 - 5 848 c.626A>T c.(625-627)cAa>cTa p.Q209L GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L 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>T 9.37:g.80409488T>A ENSP00000286548:p.Gln209Leu O15108|Q13462|Q6NT27|Q92471|Q9BZB9 ENST00000286548.4 37 CCDS6658.1 . . . . . . . . . . T 29.2 4.985495 0.93044 . . 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 0.97573 0.9205 H 0.99347 4.525 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.99402 1.0928 10 0.87932 D 0 . 15.9502 0.79827 0.0:0.0:0.0:1.0 . 209 P50148 GNAQ_HUMAN L 209;7 ENSP00000286548:Q209L;ENSP00000443197:Q7L ENSP00000286548:Q209L 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 60.121832 0 -22 90 0 0 1 0 NM_002072 19 60.169552 22 0.463415 NEBL 10529 ucsc.edu hg19 10 21102943 21102943 + Missense_Mutation SNP C C A TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 C C Unknown Untested Somatic Phase_I WXS none Illumina HiSeq c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb GTCTACCTTTCATCTGTTTAT 0.333 1 177.0 164.0 168.0 10 21102943 2203 4300 6503 SO:0001583 missense Y16241 CCDS7133.1, CCDS7134.1 10p12 2014-09-17 ENSG00000078114 ENSG00000078114 16932 protein-coding gene gene with protein product 605491 9733644, 10470015 Standard NM_213569 Approved uc001iqi.3 O76041 OTTHUMG00000017788 ENST00000377122.4:c.2271G>T 10.37:g.21102943C>A ENSP00000366326:p.Met757Ile B0YJ45|Q2TBD0|Q70I54|Q9UIC4 ENST00000377122.4 37 CCDS7134.1 . . . . . . . . . . C 11.38 1.621180 0.28889 . . ENSG00000078114 ENST00000377122 T 0.46819 0.86 6.01 5.11 0.69529 . 0.284283 0.38005 N 0.001848 T 0.37999 0.1024 L 0.34521 1.04 0.80722 D 1 B 0.15141 0.012 B 0.24006 0.05 T 0.15809 -1.0424 10 0.14656 T 0.56 . 15.0403 0.71785 0.0:0.9324:0.0:0.0676 . 757 O76041 NEBL_HUMAN I 757 ENSP00000366326:M757I ENSP00000366326:M757I M - 3 0 NEBL 21142949 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.686000 0.46968 1.558000 0.49541 0.650000 0.86243 ATG NEBL-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000047113.1 0 61 NM_006393 4 28 KRR1 11103 broad.mit.edu hg19 12 75897718 75897718 + Missense_Mutation SNP T T C TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr12:75897718T>C ENST00000229214.4 - 7 820 c.797A>G c.(796-798)tAt>tGt p.Y266C KRR1_ENST00000438169.2_Intron NM_007043.6 NP_008974.5 Q13601 KRR1_HUMAN KRR1, small subunit (SSU) processome component, homolog (yeast) 266 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 GAATGGCGTATATTCTTTCTT 0.343 0 259.0 245.0 250.0 12 75897718 2203 4300 6503 SO:0001583 missense U55766 CCDS9012.1 12q 2011-03-15 2006-05-18 2006-05-18 ENSG00000111615 ENSG00000111615 5176 protein-coding gene gene with protein product 612817 """HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2""" HRB2 7505766, 11027267, 11359931, 8675026 Standard NM_007043 Approved RIP-1 uc001sxt.3 Q13601 OTTHUMG00000169759 ENST00000229214.4:c.797A>G 12.37:g.75897718T>C ENSP00000229214:p.Tyr266Cys A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5 ENST00000229214.4 37 CCDS9012.1 . . . . . . . . . . T 23.0 4.368063 0.82463 . . ENSG00000111615 ENST00000229214 T 0.31510 1.49 5.73 5.73 0.89815 . 0.000000 0.85682 D 0.000000 T 0.65821 0.2728 M 0.92738 3.34 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.75340 -0.3352 10 0.87932 D 0 -8.1063 16.0153 0.80434 0.0:0.0:0.0:1.0 . 266 Q13601 KRR1_HUMAN C 266 ENSP00000229214:Y266C ENSP00000229214:Y266C Y - 2 0 KRR1 74183985 1.000000 0.71417 0.997000 0.53966 0.954000 0.61252 7.324000 0.79115 2.190000 0.69967 0.397000 0.26171 TAT KRR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405727.1 -7.701973 0 -30 165 0 0 1 0 NM_007043 5 11.829324 88 0.053763 TMEM8B 51754 broad.mit.edu hg19 9 35846950 35846950 + Silent SNP G G A TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr9:35846950G>A ENST00000377988.2 + 10 2065 c.777G>A c.(775-777)gtG>gtA p.V259V TMEM8B_ENST00000377991.4_Silent_p.V259V|TMEM8B_ENST00000377996.1_Silent_p.V259V|TMEM8B_ENST00000439587.2_Silent_p.V259V NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 259 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 GTCGATATGTGCTGGAAGCTG 0.552 0 212.0 160.0 177.0 9 35846950 2203 4300 6503 SO:0001819 synonymous_variant BC043384 CCDS6595.1, CCDS43800.1 9p13.3 2009-06-12 2009-06-12 2009-06-12 ENSG00000137103 ENSG00000137103 21427 protein-coding gene gene with protein product """nasopharyngeal carcinoma expressed 6""" """chromosome 9 open reading frame 127""" C9orf127 12918109, 8619474 Standard NM_016446 Approved NAG-5, NGX6 uc003zym.4 A6NDV4 OTTHUMG00000019885 ENST00000377991.4:c.777G>A 9.37:g.35846950G>A B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7 ENST00000377991.4 37 CCDS43800.1 TMEM8B-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052388.2 2.837767 0 12 89 0 0 1 0 NM_016446 5 11.085731 46 0.098039 ITPKB 3707 broad.mit.edu hg19 1 226923298 226923298 + Missense_Mutation SNP C C G TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr1:226923298C>G ENST00000429204.1 - 2 2189 c.1862G>C c.(1861-1863)aGt>aCt p.S621T ITPKB_ENST00000366784.1_Missense_Mutation_p.S621T|ITPKB_ENST00000272117.3_Missense_Mutation_p.S621T NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 621 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CTCAGGGTCACTGGAGATGTC 0.587 0 123.0 114.0 117.0 1 226923298 2203 4300 6503 SO:0001583 missense AJ242780 CCDS1555.1 1q42.12 2011-04-28 2011-04-28 ENSG00000143772 ENSG00000143772 6179 protein-coding gene gene with protein product 147522 """inositol 1,4,5-trisphosphate 3-kinase B""" 1654894, 1330886 Standard NM_002221 Approved IP3KB, IP3-3KB uc010pvo.2 P27987 OTTHUMG00000037582 ENST00000272117.3:c.1862G>C 1.37:g.226923298C>G ENSP00000272117:p.Ser621Thr Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47 ENST00000272117.3 37 CCDS1555.1 . . . . . . . . . . C 29.7 5.029051 0.93518 . . ENSG00000143772 ENST00000272117;ENST00000429204;ENST00000366784 T;T;T 0.53206 1.29;1.29;0.63 5.68 5.68 0.88126 . 0.000000 0.85682 D 0.000000 T 0.58878 0.2153 L 0.27053 0.805 0.51482 D 0.999926 D 0.76494 0.999 D 0.80764 0.994 T 0.56786 -0.7921 10 0.44086 T 0.13 -13.9239 20.14 0.98056 0.0:1.0:0.0:0.0 . 621 P27987 IP3KB_HUMAN T 621 ENSP00000272117:S621T;ENSP00000411152:S621T;ENSP00000355748:S621T ENSP00000272117:S621T S - 2 0 ITPKB 224989921 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.487000 0.73633 2.837000 0.97791 0.591000 0.81541 AGT ITPKB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091632.1 159.835767 0 10 129 0 0 1 0 NM_002221 47 160.153296 36 0.566265 ARHGEF17 9828 broad.mit.edu hg19 11 73021064 73021064 + Missense_Mutation SNP T T G TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr11:73021064T>G ENST00000263674.3 + 1 1731 c.1381T>G c.(1381-1383)Tcc>Gcc p.S461A NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 461 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACAGCGGAAGTCCCTGTCAAA 0.577 0 74.0 79.0 77.0 11 73021064 2200 4293 6493 SO:0001583 missense AF378754 CCDS8221.1 11q13.3 2011-11-16 ENSG00000110237 ENSG00000110237 """Rho guanine nucleotide exchange factors""" 21726 protein-coding gene gene with protein product """Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4""" 11559528, 12071859 Standard NM_014786 Approved TEM4, KIAA0337, p164-RhoGEF uc001otu.3 Q96PE2 OTTHUMG00000167971 ENST00000263674.3:c.1381T>G 11.37:g.73021064T>G ENSP00000263674:p.Ser461Ala B2RP20|Q86XU2|Q8N2S0|Q9Y4G3 ENST00000263674.3 37 CCDS8221.1 . . . . . . . . . . T 20.9 4.058516 0.76074 . . ENSG00000110237 ENST00000263674 T 0.71341 -0.56 5.01 5.01 0.66863 . 0.186430 0.34435 N 0.003965 T 0.75517 0.3860 L 0.29908 0.895 0.38199 D 0.940129 D 0.64830 0.994 D 0.72625 0.978 T 0.80578 -0.1320 10 0.87932 D 0 -16.1841 13.5607 0.61788 0.0:0.0:0.0:1.0 . 461 Q96PE2 ARHGH_HUMAN A 461 ENSP00000263674:S461A ENSP00000263674:S461A S + 1 0 ARHGEF17 72698712 1.000000 0.71417 0.989000 0.46669 0.559000 0.35586 7.847000 0.86896 1.876000 0.54355 0.379000 0.24179 TCC ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397365.1 17.611395 0 4 42 0 0 1 0 NM_014786 7 19.380225 22 0.241379 RSG1 79363 ucsc.edu hg19 1 16559053 16559053 + Missense_Mutation SNP C C T rs142028968 byFrequency TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 C C Unknown Untested Somatic Phase_I WXS none Illumina HiSeq c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb ACCTGCTATGCGGGCCAGCTG 0.587 2 64.0 62.0 63.0 1 16559053 2203 4300 6503 SO:0001583 missense BC008702 CCDS171.1 1p36.13 2014-02-21 2011-02-22 2011-02-22 ENSG00000132881 ENSG00000132881 28127 protein-coding gene gene with protein product """Rem/Rab-Similar GTPase 1""" """chromosome 1 open reading frame 89""" C1orf89 19767740 Standard NM_030907 Approved MGC10731 uc001ayd.3 Q9BU20 OTTHUMG00000002214 ENST00000375599.3:c.479G>A 1.37:g.16559053C>T ENSP00000364749:p.Arg160His Q5TEV7 ENST00000375599.3 37 CCDS171.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 18.91|18.91 3.722860|3.722860 0.68959|0.68959 6.81E-4|6.81E-4 1.16E-4|1.16E-4 ENSG00000132881|ENSG00000132881 ENST00000434014|ENST00000375599 .|T .|0.69040 .|-0.37 5.61|5.61 5.61|5.61 0.85477|0.85477 .|Mitochondrial Rho-like (1); .|0.064449 .|0.64402 .|D .|0.000007 T|T 0.80401|0.80401 0.4616|0.4616 M|M 0.71206|0.71206 2.165|2.165 0.53688|0.53688 D|D 0.999973|0.999973 .|D .|0.89917 .|1.0 .|D .|0.65773 .|0.938 T|T 0.81351|0.81351 -0.0972|-0.0972 5|10 .|0.59425 .|D .|0.04 -4.6237|-4.6237 17.126|17.126 0.86714|0.86714 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|160 .|Q9BU20 .|RSG1_HUMAN T|H 91|160 .|ENSP00000364749:R160H .|ENSP00000364749:R160H A|R -|- 1|2 0|0 RSG1|RSG1 16431640|16431640 0.995000|0.995000 0.38212|0.38212 0.845000|0.845000 0.33349|0.33349 0.478000|0.478000 0.33099|0.33099 3.342000|3.342000 0.52159|0.52159 2.652000|2.652000 0.90054|0.90054 0.655000|0.655000 0.94253|0.94253 GCA|CGC RSG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006279.2 -11 54 NM_030907 4 33 AC015922.5 0 broad.mit.edu hg19 17 15736892 15736892 + RNA DEL A A - TCGA-V4-A9F2-01A-11D-A39W-08 TCGA-V4-A9F2-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b 8f068522-7afa-46ae-9055-37e0656dacdb g.chr17:15736892delA ENST00000584636.1 + 0 316 CAACTCTTCCAAGGCCTGTCT 0.453 0 17.37:g.15736892delA ENST00000584636.1 37 AC015922.5-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000444654.1 . . 1 15 2 4 0.33