#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NFX1	4799	broad.mit.edu	37	9	33294604	33294604	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr9:33294604A>G	ENST00000379540.3	+	2	274	c.212A>G	c.(211-213)cAt>cGt	p.H71R	NFX1_ENST00000379521.4_Missense_Mutation_p.H71R|NFX1_ENST00000318524.6_Missense_Mutation_p.H71R	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	71					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTTCATCAGCATAGTTATCAT	0.453																																						uc003zsr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(211-213)cAt>cGt		Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.							169.0	172.0	171.0					9																	33294604		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294604A>G	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.212A>G	9.37:g.33294604A>G	ENSP00000368856:p.His71Arg					NFX1_uc011lnw.2_Missense_Mutation_p.H71R|NFX1_uc003zso.3_Missense_Mutation_p.H71R|NFX1_uc003zsp.2_Missense_Mutation_p.H71R|NFX1_uc010mjr.2_Missense_Mutation_p.H71R|NFX1_uc003zsq.3_Missense_Mutation_p.H71R	p.H71R	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	1	365	+			71					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.212A>G	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	4.777	0.144520	0.09134	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.21031	2.35;2.03;2.03	5.31	2.92	0.33932	.	0.474887	0.21097	N	0.080226	T	0.11281	0.0275	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.12013	0.001;0.0;0.0;0.005	B;B;B;B	0.09377	0.004;0.001;0.003;0.004	T	0.21621	-1.0240	10	0.66056	D	0.02	.	1.6876	0.02845	0.557:0.1793:0.0916:0.1721	.	71;71;71;71	F5GXD0;Q12986;Q12986-2;Q12986-3	.;NFX1_HUMAN;.;.	R	71	ENSP00000368856:H71R;ENSP00000368836:H71R;ENSP00000317695:H71R	ENSP00000317695:H71R	H	+	2	0	NFX1	33284604	0.001000	0.12720	0.828000	0.32881	0.601000	0.36947	0.285000	0.18883	0.810000	0.34279	0.450000	0.29827	CAT		0.453	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			7	333	0	0	0	1	0	7	333				
SERF2	10169	broad.mit.edu	37	15	44085945	44085945	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085945A>T	ENST00000381359.1	+	5	1083	c.154A>T	c.(154-156)Aac>Tac	p.N52Y	SERF2_ENST00000409614.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000339624.5_Missense_Mutation_p.Q59H|SERF2_ENST00000402131.1_Missense_Mutation_p.N38Y|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.Q96H|SERF2_ENST00000249786.4_Missense_Mutation_p.N52Y|SERF2_ENST00000403425.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409291.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	52						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAAAAGGCAAACGAGAAGAA	0.572																																						uc010bdq.3																			0				lung(1)	1						c.(286-288)caA>caT		Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.							215.0	176.0	189.0					15																	44085945		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085945A>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.154A>T	15.37:g.44085945A>T	ENSP00000370764:p.Asn52Tyr					ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.N52Y|SERF2_uc021skb.1_Missense_Mutation_p.N52Y|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Missense_Mutation_p.Q59H|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.N38Y|MIR1282_uc021ske.1_Non-coding_Transcript	p.Q96H	NM_001199875	NP_001186804	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	2	689	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	0					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	ENST00000381359.1	37	c.288A>T	CCDS32218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.81|13.81	2.347824|2.347824	0.41599|0.41599	.|.	.|.	ENSG00000140264|ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000409960;ENST00000339624	T;T;T;T;T|T;T	0.51817|0.55052	0.85;0.85;0.69;0.69;0.69|0.55;0.54	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.64594|0.64594	0.2612|0.2612	.|.	.|.	.|.	0.26907|0.26907	N|N	0.966983|0.966983	B|D;P	0.28026|0.61080	0.198|0.989;0.704	B|P;B	0.12837|0.56916	0.008|0.809;0.36	T|T	0.61019|0.61019	-0.7147|-0.7147	8|8	0.87932|0.51188	D|T	0|0.08	.|.	12.7757|12.7757	0.57445|0.57445	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	52|59;96	P84101|A6NL45;B9A026	SERF2_HUMAN|.;.	Y|H	52;52;38;38;38|96;59	ENSP00000370764:N52Y;ENSP00000249786:N52Y;ENSP00000386044:N38Y;ENSP00000384300:N38Y;ENSP00000386783:N38Y|ENSP00000387187:Q96H;ENSP00000339647:Q59H	ENSP00000249786:N52Y|ENSP00000339647:Q59H	N|Q	+|+	1|3	0|2	SERF2|SERF2	41873237|41873237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.727000|1.727000	0.38095|0.38095	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.572	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		5	189	0	0	0	1	0	5	189				
CARHSP1	23589	broad.mit.edu	37	16	8952307	8952307	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr16:8952307G>A	ENST00000396593.2	-	3	540	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CARHSP1_ENST00000561530.1_Missense_Mutation_p.P61S|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000562843.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000567554.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000311052.5_Missense_Mutation_p.P61S|CARHSP1_ENST00000567626.1_5'Flank	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	61					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						TTGTAGACGGGGCCCTGTGAA	0.607																																						uc002czh.1																			0				endometrium(2)|lung(1)	3						c.(181-183)Ccc>Tcc		Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA.							55.0	61.0	59.0					16																	8952307		2197	4300	6497	SO:0001583	missense	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	P granule|cytoplasmic mRNA processing body|cytosol	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8952307G>A	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.181C>T	16.37:g.8952307G>A	ENSP00000379838:p.Pro61Ser					CARHSP1_uc002czi.1_Missense_Mutation_p.P61S	p.P61S	NM_001042476	NP_055131	Q9Y2V2	CHSP1_HUMAN			2	531	-			61					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Missense_Mutation	SNP	ENST00000396593.2	37	c.181C>T	CCDS10537.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551441	0.86127	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.37	3.32	0.38043	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.84846	2.72	0.80722	D	1	P	0.48407	0.91	P	0.45998	0.5	T	0.74990	-0.3475	9	0.87932	D	0	1.8599	13.1807	0.59653	0.0:0.0:0.7102:0.2898	.	61	Q9Y2V2	CHSP1_HUMAN	S	61	.	ENSP00000311847:P61S	P	-	1	0	CARHSP1	8859808	1.000000	0.71417	0.848000	0.33437	0.927000	0.56198	7.797000	0.85911	0.576000	0.29452	0.561000	0.74099	CCC		0.607	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		6	81	0	0	0	1	0	6	81				
PAWR	5074	broad.mit.edu	37	12	79990400	79990400	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:79990400T>C	ENST00000328827.4	-	5	1094	c.722A>G	c.(721-723)tAt>tGt	p.Y241C		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	241					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTTCGAGAATATCTACTTGA	0.358																																						uc001syx.3																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(721-723)tAt>tGt		Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.							102.0	97.0	99.0					12																	79990400		2203	4300	6503	SO:0001583	missense	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:79990400T>C	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.722A>G	12.37:g.79990400T>C	ENSP00000328088:p.Tyr241Cys						p.Y241C	NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN			4	1008	-			241					O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	c.722A>G	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023211	0.54683	.	.	ENSG00000177425	ENST00000328827	T	0.18960	2.18	5.51	-0.0393	0.13876	.	0.734850	0.12666	N	0.449235	T	0.28300	0.0699	L	0.43152	1.355	0.35779	D	0.821481	D	0.63046	0.992	P	0.55999	0.789	T	0.26883	-1.0090	9	.	.	.	-0.0346	11.2479	0.49008	0.4913:0.0:0.0:0.5087	.	241	Q96IZ0	PAWR_HUMAN	C	241	ENSP00000328088:Y241C	.	Y	-	2	0	PAWR	78514531	1.000000	0.71417	0.844000	0.33320	0.796000	0.44982	1.731000	0.38135	-0.247000	0.09597	-0.481000	0.04817	TAT		0.358	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		46	76	0	0	0	1	0	46	76				
SETBP1	26040	broad.mit.edu	37	18	42281493	42281493	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr18:42281493A>T	ENST00000282030.5	+	2	478	c.182A>T	c.(181-183)gAt>gTt	p.D61V	SETBP1_ENST00000426838.4_Missense_Mutation_p.D61V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	61						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGGAGGATGAACTAGGC	0.582									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(181-183)gAt>gTt		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							79.0	67.0	71.0					18																	42281493		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281493A>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.182A>T	18.37:g.42281493A>T	ENSP00000282030:p.Asp61Val					SETBP1_uc002lay.3_Missense_Mutation_p.D61V	p.D61V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	1	478	+			61					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.182A>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680110	0.68042	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.71461	-0.57	5.7	5.7	0.88788	.	0.059261	0.64402	D	0.000003	T	0.78723	0.4328	L	0.44542	1.39	0.58432	D	0.999997	D;P	0.76494	0.999;0.936	D;P	0.66351	0.943;0.64	T	0.80917	-0.1168	10	0.87932	D	0	.	15.9644	0.79956	1.0:0.0:0.0:0.0	.	61;61	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	V	61	ENSP00000282030:D61V	ENSP00000282030:D61V	D	+	2	0	SETBP1	40535491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.636000	0.61339	2.170000	0.68504	0.482000	0.46254	GAT		0.582	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	114	0	0	0	1	0	12	114				
USH2A	7399	broad.mit.edu	37	1	216251673	216251673	+	Missense_Mutation	SNP	C	C	T	rs541275063	byFrequency	TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:216251673C>T	ENST00000307340.3	-	27	5716	c.5330G>A	c.(5329-5331)cGg>cAg	p.R1777Q	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1777Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1777	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATTTAACCGGAAGGTCAA	0.373										HNSCC(13;0.011)			C|||	2	0.000399361	0.0015	0.0	5008	,	,		18311	0.0		0.0	False		,,,				2504	0.0					uc001hku.1																			0		p.F1776Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5329-5331)cGg>cAg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							204.0	224.0	217.0					1																	216251673		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251673C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5330G>A	1.37:g.216251673C>T	ENSP00000305941:p.Arg1777Gln	HNSCC(13;0.011)					p.R1777Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5717	-			1777			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5330G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857576	0.32791	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78246	-1.16;-1.16	5.58	-2.94	0.05581	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.073040	0.07458	N	0.900087	T	0.56455	0.1986	N	0.20807	0.61	0.09310	N	1	B	0.22346	0.068	B	0.13407	0.009	T	0.35574	-0.9783	10	0.16896	T	0.51	.	5.5354	0.17007	0.3139:0.3219:0.0:0.3642	.	1777	O75445	USH2A_HUMAN	Q	1777	ENSP00000305941:R1777Q;ENSP00000355910:R1777Q	ENSP00000305941:R1777Q	R	-	2	0	USH2A	214318296	0.953000	0.32496	0.031000	0.17742	0.987000	0.75469	0.152000	0.16302	-0.352000	0.08237	-0.142000	0.14014	CGG		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	712	0	0	0	1	0	5	712				
SERF2	10169	broad.mit.edu	37	15	44085952	44085952	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085952A>T	ENST00000381359.1	+	5	1090	c.161A>T	c.(160-162)aAg>aTg	p.K54M	SERF2_ENST00000409614.1_Missense_Mutation_p.K40M|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000339624.5_Nonsense_Mutation_p.R62*|SERF2_ENST00000402131.1_Missense_Mutation_p.K40M|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Nonsense_Mutation_p.R99*|SERF2_ENST00000249786.4_Missense_Mutation_p.K54M|SERF2_ENST00000403425.1_Missense_Mutation_p.K40M|SERF2_ENST00000409291.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	54						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCAAACGAGAAGAAGGAGGAA	0.562																																						uc010bdq.3																			0				lung(1)	1						c.(295-297)Aga>Tga		Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.							214.0	175.0	188.0					15																	44085952		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085952A>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.161A>T	15.37:g.44085952A>T	ENSP00000370764:p.Lys54Met					ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.K54M|SERF2_uc021skb.1_Missense_Mutation_p.K54M|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Nonsense_Mutation_p.R62*|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.K40M|MIR1282_uc021ske.1_Non-coding_Transcript	p.R99*	NM_001199875	NP_001186804	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	2	696	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	0					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Nonsense_Mutation	SNP	ENST00000381359.1	37	c.295A>T	CCDS32218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.556558|4.556558	0.86231|0.86231	.|.	.|.	ENSG00000140264|ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000409960;ENST00000339624	T;T;T;T;T|.	0.58652|.	0.64;0.64;0.32;0.32;0.32|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|.	0.73156|.	0.3551|.	.|.	.|.	.|.	0.38867|0.38867	D|D	0.956615|0.956615	P|.	0.51240|.	0.943|.	P|.	0.55667|.	0.781|.	T|.	0.77653|.	-0.2507|.	8|.	0.72032|0.66056	D|D	0.01|0.02	.|.	12.7757|12.7757	0.57445|0.57445	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	54|.	P84101|.	SERF2_HUMAN|.	M|X	54;54;40;40;40|99;62	ENSP00000370764:K54M;ENSP00000249786:K54M;ENSP00000386044:K40M;ENSP00000384300:K40M;ENSP00000386783:K40M|.	ENSP00000249786:K54M|ENSP00000339647:R62X	K|R	+|+	2|1	0|2	SERF2|SERF2	41873244|41873244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.957000|3.957000	0.56730|0.56730	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.562	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		6	183	0	0	0	1	0	6	183				
ARHGAP30	257106	broad.mit.edu	37	1	161024210	161024210	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:161024210T>A	ENST00000368013.3	-	5	802	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q161L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	161	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATGTTGGTCTGGGCACTGAA	0.597																																						uc001fxl.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(481-483)cAg>cTg		Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.							106.0	87.0	93.0					1																	161024210		2202	4300	6502	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161024210T>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.482A>T	1.37:g.161024210T>A	ENSP00000356992:p.Gln161Leu					ARHGAP30_uc001fxk.3_Missense_Mutation_p.Q161L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.Q7L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q7L	p.Q161L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		4	828	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		161			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.482A>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189102	0.78789	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017	T;T	0.18016	2.24;2.24	5.47	5.47	0.80525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.136109	0.49916	D	0.000136	T	0.07818	0.0196	N	0.12637	0.245	0.80722	D	1	P;B	0.37781	0.608;0.216	B;B	0.44224	0.444;0.234	T	0.17167	-1.0378	10	0.66056	D	0.02	.	13.5662	0.61819	0.0:0.0:0.0:1.0	.	161;161	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	161;161;13	ENSP00000356995:Q161L;ENSP00000356992:Q161L	ENSP00000356992:Q161L	Q	-	2	0	ARHGAP30	159290834	0.981000	0.34729	0.998000	0.56505	0.993000	0.82548	1.585000	0.36600	2.081000	0.62600	0.524000	0.50904	CAG		0.597	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		13	39	0	0	0	1	0	13	39				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	86	0	0	0	1	0	41	86				
COL6A3	1293	broad.mit.edu	37	2	238280362	238280362	+	Intron	SNP	G	G	A	rs370194938|rs368338594		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr2:238280362G>A	ENST00000295550.4	-	9	4738				COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.A1026V|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1227V|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACCTCCGACGCCCCCATCTC	0.478																																						uc002vwq.3																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3679-3681)gCg>gTg		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA.		G	,VAL/ALA,VAL/ALA,,	0,4406		0,0,2203	71.0	79.0	76.0		,3077,3680,,	-3.3	0.0	2		76	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,intron,intron	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,64,64,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,1026/1037,1227/1238,,	238280362	1,13005	2203	4300	6503	SO:0001627	intron_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280362G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4285+12C>T	2.37:g.238280362G>A						COL6A3_uc002vwl.2_Intron|COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwr.3_Missense_Mutation_p.A1026V	p.A1227V	NM_057165	NP_476506	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3965	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1434			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3680C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546659	0.04024	0.0	1.16E-4	ENSG00000163359	ENST00000392004;ENST00000392003	T;T	0.61158	0.27;0.13	1.65	-3.29	0.05017	.	.	.	.	.	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	P;P	0.40578	0.718;0.722	B;B	0.39299	0.283;0.296	T	0.35895	-0.9770	9	0.54805	T	0.06	.	5.9709	0.19351	0.2324:0.2927:0.4749:0.0	.	1026;1227	A8MT30;E9PGQ9	.;.	V	1227;1026	ENSP00000375861:A1227V;ENSP00000375860:A1026V	ENSP00000375860:A1026V	A	-	2	0	COL6A3	237945101	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.339000	0.00184	-3.258000	0.00049	GCG		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	246	0	0	0	1	0	5	246				
VPS13D	55187	broad.mit.edu	37	1	12416017	12416017	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:12416017C>G	ENST00000358136.3	+	48	9871	c.9741C>G	c.(9739-9741)aaC>aaG	p.N3247K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N3222K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCAAAACTATATGGTGA	0.438																																						uc001atv.3																			0		p.Q3246P(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9739-9741)aaC>aaG		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							105.0	98.0	100.0					1																	12416017		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416017C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9741C>G	1.37:g.12416017C>G	ENSP00000350854:p.Asn3247Lys					VPS13D_uc001atw.3_Missense_Mutation_p.N3222K|VPS13D_uc001atx.3_Missense_Mutation_p.N2434K	p.N3247K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9882	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3246						Missense_Mutation	SNP	ENST00000358136.3	37	c.9741C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.481464|4.481464	0.84747|0.84747	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.53206|.	0.63;0.63|.	5.89|5.89	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;P|.	0.48834|.	0.916;0.863|.	P;B|.	0.46362|.	0.514;0.428|.	T|T	0.55927|0.55927	-0.8063|-0.8063	10|5	0.22109|.	T|.	0.4|.	.|.	15.0319|15.0319	0.71713|0.71713	0.0:0.932:0.0:0.068|0.0:0.932:0.0:0.068	.|.	3222;3246|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	K|S	3222;3247|2069	ENSP00000348666:N3222K;ENSP00000350854:N3247K|.	ENSP00000348666:N3222K|.	N|T	+|+	3|2	2|0	VPS13D|VPS13D	12338604|12338604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.754000|5.754000	0.68743|0.68743	1.505000|1.505000	0.48720|0.48720	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	125	0	0	0	1	0	5	125				
ADAM15	8751	broad.mit.edu	37	1	155026852	155026852	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:155026852A>G	ENST00000356955.2	+	6	583	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	ADAM15_ENST00000360674.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000531455.1_Missense_Mutation_p.Q171R|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000359280.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000447332.3_Missense_Mutation_p.Q145R|ADAM15_ENST00000449910.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000355956.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000271836.6_Missense_Mutation_p.Q161R|ADAM15_ENST00000368412.3_Missense_Mutation_p.Q161R|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	161					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGGACCTTCAGGGTCCTCCC	0.547																																						uc001fgr.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(481-483)cAg>cGg		Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.							53.0	60.0	58.0					1																	155026852		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	g.chr1:155026852A>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.482A>G	1.37:g.155026852A>G	ENSP00000349436:p.Gln161Arg					LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.Q145R|ADAM15_uc010peu.1_Missense_Mutation_p.Q178R|ADAM15_uc001fgx.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgs.1_Missense_Mutation_p.Q161R|ADAM15_uc010pev.1_Missense_Mutation_p.Q171R|ADAM15_uc001fgu.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgv.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgw.1_Missense_Mutation_p.Q161R	p.Q161R	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		5	583	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		161					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.482A>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	A	1.097	-0.662136	0.03454	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00864	5.76;5.76;5.76;5.68;5.6;5.76;5.74;5.76	4.76	-1.8	0.07907	.	0.683951	0.12134	N	0.496540	T	0.00552	0.0018	L	0.45581	1.43	0.09310	N	0.999999	B;B;B;B;P;B;B;B;B;P	0.39551	0.018;0.018;0.006;0.399;0.628;0.014;0.014;0.014;0.399;0.678	B;B;B;B;B;B;B;B;P;P	0.48598	0.026;0.026;0.016;0.396;0.396;0.015;0.015;0.015;0.583;0.531	T	0.47328	-0.9126	10	0.33141	T	0.24	.	4.4022	0.11392	0.3939:0.3295:0.2766:0.0	.	171;178;145;161;161;161;161;161;161;161	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	R	161;161;161;161;161;161;161;171	ENSP00000349436:Q161R;ENSP00000403843:Q161R;ENSP00000352226:Q161R;ENSP00000353892:Q161R;ENSP00000357397:Q161R;ENSP00000348227:Q161R;ENSP00000271836:Q161R;ENSP00000432927:Q171R	ENSP00000271836:Q161R	Q	+	2	0	ADAM15	153293476	0.000000	0.05858	0.002000	0.10522	0.140000	0.21249	-1.172000	0.03112	-0.173000	0.10761	-0.429000	0.05907	CAG		0.547	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		4	199	0	0	0	1	0	4	199				
C2CD3	26005	broad.mit.edu	37	11	73879565	73879565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr11:73879565C>T	ENST00000334126.7	-	2	375	c.149G>A	c.(148-150)tGg>tAg	p.W50*	PPME1_ENST00000398427.4_5'Flank|C2CD3_ENST00000313663.7_Nonsense_Mutation_p.W50*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.W50*|PPME1_ENST00000328257.8_5'Flank			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	50					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAATCTTCCATATGACTCT	0.458																																						uc001ouu.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(148-150)tGg>tAg		Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.							166.0	161.0	162.0					11																	73879565		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73879565C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.149G>A	11.37:g.73879565C>T	ENSP00000334379:p.Trp50*					PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Nonsense_Mutation_p.W50*	p.W50*	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			1	376	-	Breast(11;4.16e-06)		50					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.394499	0.96009	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061;ENST00000535954	.	.	.	5.57	4.66	0.58398	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8029	12.332	0.55046	0.0:0.9176:0.0:0.0824	.	.	.	.	X	50;50;50;50;50;92	.	ENSP00000289350:W50X	W	-	2	0	C2CD3	73557213	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.944000	0.75940	1.355000	0.45865	0.655000	0.94253	TGG		0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		7	256	0	0	0	1	0	7	256				
SOX5	6660	broad.mit.edu	37	12	23696258	23696258	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:23696258T>C	ENST00000451604.2	-	13	1759	c.1658A>G	c.(1657-1659)gAa>gGa	p.E553G	SOX5_ENST00000381381.2_Missense_Mutation_p.E432G|SOX5_ENST00000309359.1_Missense_Mutation_p.E540G|SOX5_ENST00000396007.2_Missense_Mutation_p.E167G|SOX5_ENST00000537393.1_Missense_Mutation_p.E518G|SOX5_ENST00000545921.1_Missense_Mutation_p.E543G|SOX5_ENST00000546136.1_Missense_Mutation_p.E540G|SOX5_ENST00000541536.1_Missense_Mutation_p.E432G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	553					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TATGTGGGGTTCATTGCTACC	0.458																																						uc001rfw.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1657-1659)gAa>gGa		Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.							182.0	161.0	168.0					12																	23696258		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696258T>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1658A>G	12.37:g.23696258T>C	ENSP00000398273:p.Glu553Gly					SOX5_uc001rfx.3_Missense_Mutation_p.E540G|SOX5_uc001rfy.3_Missense_Mutation_p.E432G|SOX5_uc001rfv.3_Missense_Mutation_p.E167G|SOX5_uc010siv.2_Missense_Mutation_p.E540G|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E505G	p.E553G	NM_006940	NP_694534	P35711	SOX5_HUMAN			12	1760	-			553					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1658A>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958616	0.92726	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97455	-4.38;-4.38;-4.31;-4.39;-4.38;-4.31;-4.36;-4.39	6.17	6.17	0.99709	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.71036	2.16	0.51012	D	0.999902	D;D;D;D	0.76494	0.999;0.989;0.999;0.998	D;D;D;D	0.81914	0.995;0.969;0.989;0.957	D	0.98655	1.0681	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	518;432;553;167	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	G	540;540;432;553;505;518;432;167;543	ENSP00000437487:E540G;ENSP00000308927:E540G;ENSP00000370788:E432G;ENSP00000398273:E553G;ENSP00000439832:E518G;ENSP00000441973:E432G;ENSP00000379328:E167G;ENSP00000443520:E543G	ENSP00000308927:E540G	E	-	2	0	SOX5	23587525	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	8.026000	0.88783	2.371000	0.80710	0.533000	0.62120	GAA		0.458	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		5	210	0	0	0	1	0	5	210				
SH3BGR	6450	broad.mit.edu	37	21	40823936	40823936	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr21:40823936G>A	ENST00000333634.4	+	1	181	c.103G>A	c.(103-105)Gct>Act	p.A35T	SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380631.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	35					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGCACTTGCTTGCCTGTG	0.592																																						uc002yya.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(103-105)Gct>Act		Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.							101.0	99.0	100.0					21																	40823936		2203	4300	6503	SO:0001583	missense	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40823936G>A		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.103G>A	21.37:g.40823936G>A	ENSP00000332513:p.Ala35Thr					SH3BGR_uc002yxz.3_Intron	p.A35T	NM_007341	NP_001001713	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	0	157	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	35					A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	c.103G>A	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465692	0.43839	.	.	ENSG00000185437	ENST00000333634	T	0.28255	1.62	4.22	2.29	0.28610	.	1.996380	0.02457	N	0.086146	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.22730	-1.0208	10	0.72032	D	0.01	.	7.5132	0.27585	0.0932:0.1658:0.741:0.0	.	35	P55822	SH3BG_HUMAN	T	35	ENSP00000332513:A35T	ENSP00000332513:A35T	A	+	1	0	SH3BGR	39745806	0.000000	0.05858	0.005000	0.12908	0.300000	0.27592	0.483000	0.22292	1.013000	0.39391	0.655000	0.94253	GCT		0.592	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		5	195	0	0	0	1	0	5	195				
ADCK2	90956	broad.mit.edu	37	7	140374545	140374545	+	Silent	SNP	G	G	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140374545G>C	ENST00000072869.4	+	2	1246	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L	ADCK2_ENST00000476491.1_Silent_p.L356L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	356	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTGAGAAGCTGATGGTCCAAC	0.458																																						uc003vvy.1																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1066-1068)ctG>ctC		Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.							125.0	107.0	113.0					7																	140374545		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374545G>C	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1068G>C	7.37:g.140374545G>C						ADCK2_uc003vvz.3_Silent_p.L356L	p.L356L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			1	1246	+	Melanoma(164;0.00956)		356			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1068G>C	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139494	0.21205	.	.	ENSG00000133597	ENST00000483369	.	.	.	5.49	1.66	0.24008	.	.	.	.	.	T	0.54255	0.1847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41928	-0.9481	4	.	.	.	-21.299	6.854	0.24030	0.0:0.4166:0.368:0.2153	.	.	.	.	H	194	.	.	D	+	1	0	ADCK2	140021014	0.996000	0.38824	0.999000	0.59377	0.989000	0.77384	0.466000	0.22019	0.097000	0.17492	-0.165000	0.13383	GAT		0.458	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		16	27	0	0	0	1	0	16	27				
GFRA4	64096	broad.mit.edu	37	20	3641263	3641264	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr20:3641263_3641264delCG	ENST00000319242.3	-	3	635_636	c.636_637delCG	c.(634-639)cgcgtgfs	p.V213fs	GFRA4_ENST00000290417.2_Frame_Shift_Del_p.V183fs			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	213					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CAGGGCGCCACGCGCGCGCTCA	0.698																																						uc002wio.3																			0				large_intestine(1)|lung(2)	3						c.(634-639)cgcgtgfs		Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641263_3641264delCG	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.636_637delCG	20.37:g.3641269_3641270delCG	ENSP00000313423:p.Val213fs					GFRA4_uc002win.3_Frame_Shift_Del_p.R182fs|GFRA4_uc002wip.1_3'UTR	p.R212fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			2	636_637	-			212					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.636_637delCG	CCDS13056.1																																																																																				0.698	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		2	4						2	4	---	---	---	---
