#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
CACNA1C	775	broad.mit.edu	37	12	2614030	2614030	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:2614030A>G	ENST00000347598.4	+	8	1136	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G	CACNA1C_ENST00000327702.7_Missense_Mutation_p.D379G|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D379G|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D379G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	379					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGGAAGGGACTGGCCCTGG	0.512																																						uc009zdu.1																			0		p.N378K(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1135-1137)gAc>gGc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						107.0	109.0	108.0					12																	2614030		1977	4171	6148	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2614030A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1136A>G	12.37:g.2614030A>G	ENSP00000266376:p.Asp379Gly					CACNA1C_uc001qkc.2_Missense_Mutation_p.D379G|CACNA1C_uc001qjz.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkd.2_Missense_Mutation_p.D379G|CACNA1C_uc001qke.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkf.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdw.1_Missense_Mutation_p.D379G|CACNA1C_uc001qkg.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkh.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkl.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkp.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkq.2_Missense_Mutation_p.D379G|CACNA1C_uc001qku.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkr.2_Missense_Mutation_p.D379G|CACNA1C_uc001qks.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkt.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdv.1_Missense_Mutation_p.D376G|CACNA1C_uc001qkb.2_Missense_Mutation_p.D379G|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	p.D379G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1449	+			379					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1136A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359866	0.41801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.18	5.18	0.71444	Ion transport (1);	.	.	.	.	D	0.93776	0.8010	N	0.16833	0.445	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32800	0.385;0.096;0.0;0.261;0.142;0.096;0.142;0.0;0.0;0.142;0.083;0.0;0.142;0.0;0.019;0.142;0.142;0.019;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.37387	0.248;0.068;0.002;0.248;0.136;0.068;0.136;0.003;0.004;0.136;0.136;0.002;0.136;0.002;0.046;0.093;0.093;0.046;0.046	D	0.93520	0.6860	9	0.52906	T	0.07	.	15.1942	0.73071	1.0:0.0:0.0:0.0	.	379;376;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	G	379	ENSP00000336982:D379G;ENSP00000382563:D379G;ENSP00000437936:D379G;ENSP00000382552:D379G;ENSP00000382547:D379G;ENSP00000382506:D379G;ENSP00000382530:D379G;ENSP00000382546:D379G;ENSP00000382500:D379G;ENSP00000266376:D379G;ENSP00000382515:D379G;ENSP00000382510:D379G;ENSP00000341092:D379G;ENSP00000382537:D379G;ENSP00000329877:D379G;ENSP00000382557:D379G;ENSP00000385724:D379G;ENSP00000382504:D379G	ENSP00000329877:D379G	D	+	2	0	CACNA1C	2484291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.689000	0.54706	2.172000	0.68678	0.533000	0.62120	GAC		0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		10	17	0	0	0	1	0	10	17				
BRIP1	83990	broad.mit.edu	37	17	59761320	59761320	+	Silent	SNP	A	A	G			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr17:59761320A>G	ENST00000259008.2	-	20	3354	c.3087T>C	c.(3085-3087)agT>agC	p.S1029S		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1029	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GACTAGAGGCACTATTCTCTG	0.403			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3085-3087)agT>agC	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.							125.0	120.0	122.0					17																	59761320		2203	4300	6503	SO:0001819	synonymous_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761320A>G	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3087T>C	17.37:g.59761320A>G							p.S1029S	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	3393	-			1029			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.3087T>C	CCDS11631.1																																																																																				0.403	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		4	107	0	0	0	1	0	4	107				
CHST10	9486	broad.mit.edu	37	2	101009934	101009934	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr2:101009934G>A	ENST00000264249.3	-	7	1229	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	CHST10_ENST00000409701.1_Missense_Mutation_p.H282Y|CHST10_ENST00000542617.1_Missense_Mutation_p.H330Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	282					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTCTCGTGGTGTCCAATCACA	0.522																																						uc002tam.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(844-846)Cac>Tac		Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.							223.0	184.0	197.0					2																	101009934		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009934G>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.844C>T	2.37:g.101009934G>A	ENSP00000264249:p.His282Tyr						p.H282Y	NM_004854	NP_004845	O43529	CHSTA_HUMAN			6	1242	-			282					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.844C>T	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010720	0.93346	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73152	-0.72;-0.72;-0.72	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	M	0.76574	2.34	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	D	0.84714	0.0736	10	0.87932	D	0	-39.552	20.2963	0.98556	0.0:0.0:1.0:0.0	.	282	O43529	CHSTA_HUMAN	Y	282;330;282	ENSP00000264249:H282Y;ENSP00000438869:H330Y;ENSP00000387309:H282Y	ENSP00000264249:H282Y	H	-	1	0	CHST10	100376366	1.000000	0.71417	0.973000	0.42090	0.999000	0.98932	9.869000	0.99810	2.813000	0.96785	0.655000	0.94253	CAC		0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		21	90	0	0	0	1	0	21	90				
IFT140	9742	broad.mit.edu	37	16	1570247	1570247	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:1570247T>C	ENST00000426508.2	-	28	4121	c.3758A>G	c.(3757-3759)tAc>tGc	p.Y1253C	IFT140_ENST00000361339.5_Missense_Mutation_p.Y447C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1253					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGACTGCAGGTAGTTAGCAGC	0.562																																						uc002cmb.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3757-3759)tAc>tGc		Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.							138.0	131.0	133.0					16																	1570247		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570247T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3758A>G	16.37:g.1570247T>C	ENSP00000406012:p.Tyr1253Cys					IFT140_uc002clz.3_Missense_Mutation_p.Y866C	p.Y1253C	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			27	4120	-		Hepatocellular(780;0.219)	1253					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3758A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046069	0.75846	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.57107	0.42;0.42	6.02	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80756	-0.1240	10	0.49607	T	0.09	.	13.5567	0.61763	0.0:0.0:0.1298:0.8702	.	1253;940	Q96RY7;B4DR58	IF140_HUMAN;.	C	1253;447;1253	ENSP00000354895:Y447C;ENSP00000406012:Y1253C	ENSP00000354895:Y447C	Y	-	2	0	IFT140	1510248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.971000	0.88012	1.085000	0.41206	0.533000	0.62120	TAC		0.562	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		4	110	0	0	0	1	0	4	110				
SCAF4	57466	broad.mit.edu	37	21	33073397	33073397	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr21:33073397T>C	ENST00000286835.7	-	7	1070	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	SCAF4_ENST00000434667.3_Missense_Mutation_p.I215V|SCAF4_ENST00000399804.1_Missense_Mutation_p.I230V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	230						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGCTGTGATAGCCTGAACC	0.453																																						uc002ypd.2																			0		p.A229A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(688-690)Atc>Gtc		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.							150.0	143.0	145.0					21																	33073397		2203	4300	6503	SO:0001583	missense	57466					nucleus	RNA binding|nucleotide binding	g.chr21:33073397T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.688A>G	21.37:g.33073397T>C	ENSP00000286835:p.Ile230Val					SCAF4_uc002ype.2_Missense_Mutation_p.I230V|SCAF4_uc010glu.2_Missense_Mutation_p.I215V|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.I230V	p.I230V	NM_020706	NP_065757	O95104	SFR15_HUMAN			6	1114	-			230					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.688A>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312278	0.40895	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.43688	1.0;0.96;0.94	6.07	3.66	0.41972	.	0.165882	0.51477	D	0.000096	T	0.34571	0.0902	L	0.50919	1.6	0.42758	D	0.993799	B;B;B;B	0.12630	0.004;0.003;0.006;0.004	B;B;B;B	0.09377	0.002;0.003;0.004;0.002	T	0.11891	-1.0569	10	0.11794	T	0.64	-1.5607	13.1868	0.59686	0.0:0.0:0.2513:0.7487	.	215;230;230;230	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	215;230;230	ENSP00000402377:I215V;ENSP00000286835:I230V;ENSP00000382703:I230V	ENSP00000286835:I230V	I	-	1	0	SCAF4	31995268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.686000	0.46968	0.505000	0.28104	0.533000	0.62120	ATC		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		16	52	0	0	0	1	0	16	52				
KIF4B	285643	broad.mit.edu	37	5	154393468	154393468	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr5:154393468C>T	ENST00000435029.4	+	1	209	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCGTTGTCGCCCTCTGGT	0.542																																						uc010jih.1																			0		p.R17H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(49-51)Cgc>Tgc		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							122.0	116.0	118.0					5																	154393468		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393468C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.49C>T	5.37:g.154393468C>T	ENSP00000387875:p.Arg17Cys						p.R17C	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	209	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	17			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.49C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989551	0.53934	.	.	ENSG00000226650	ENST00000435029	D	0.85339	-1.97	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.95149	0.8428	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93917	0.7202	9	0.87932	D	0	.	8.8832	0.35387	0.0:1.0:0.0:0.0	.	17	Q2VIQ3	KIF4B_HUMAN	C	17	ENSP00000387875:R17C	ENSP00000387875:R17C	R	+	1	0	KIF4B	154373661	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	1.391000	0.34475	1.138000	0.42230	0.563000	0.77884	CGC		0.542	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			16	59	0	0	0	1	0	16	59				
UTP20	27340	broad.mit.edu	37	12	101685754	101685754	+	Missense_Mutation	SNP	T	T	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:101685754T>A	ENST00000261637.4	+	10	1219	c.1045T>A	c.(1045-1047)Tct>Act	p.S349T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	349					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAGGTGTTATCTCAAACACT	0.423																																						uc001tia.1																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1045-1047)Tct>Act		Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.							155.0	153.0	153.0					12																	101685754		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685754T>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1045T>A	12.37:g.101685754T>A	ENSP00000261637:p.Ser349Thr						p.S349T	NM_014503	NP_055318	O75691	UTP20_HUMAN			9	1201	+			349					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1045T>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	4.046	0.006157	0.07866	.	.	ENSG00000120800	ENST00000261637	T	0.64991	-0.13	5.91	2.11	0.27256	Armadillo-type fold (1);	0.557097	0.19212	N	0.119896	T	0.40473	0.1118	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12142	-1.0559	10	0.14252	T	0.57	-9.4066	2.0281	0.03523	0.2313:0.0731:0.2137:0.4818	.	349	O75691	UTP20_HUMAN	T	349	ENSP00000261637:S349T	ENSP00000261637:S349T	S	+	1	0	UTP20	100209885	0.057000	0.20700	0.008000	0.14137	0.038000	0.13279	1.137000	0.31479	0.441000	0.26529	0.533000	0.62120	TCT		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		4	157	0	0	0	1	0	4	157				
COG7	91949	broad.mit.edu	37	16	23453819	23453819	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:23453819C>T	ENST00000307149.5	-	4	768	c.583G>A	c.(583-585)Gca>Aca	p.A195T	SNORA75_ENST00000391291.1_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	195					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGTGAATGCCGCTACAATC	0.458																																						uc002dlo.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(583-585)Gca>Aca		Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.							122.0	98.0	106.0					16																	23453819		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23453819C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.583G>A	16.37:g.23453819C>T	ENSP00000305442:p.Ala195Thr						p.A195T	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	780	-			195					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.583G>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	8.911	0.958683	0.18507	.	.	ENSG00000168434	ENST00000307149	T	0.50813	0.73	5.77	4.81	0.61882	.	0.257927	0.45126	D	0.000384	T	0.37210	0.0995	N	0.25485	0.75	0.26207	N	0.979357	B	0.12013	0.005	B	0.17433	0.018	T	0.21449	-1.0245	10	0.35671	T	0.21	-3.2925	15.5215	0.75869	0.1387:0.8613:0.0:0.0	.	195	P83436	COG7_HUMAN	T	195	ENSP00000305442:A195T	ENSP00000305442:A195T	A	-	1	0	COG7	23361320	0.808000	0.29022	0.003000	0.11579	0.007000	0.05969	1.937000	0.40193	1.415000	0.47037	0.655000	0.94253	GCA		0.458	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			4	99	0	0	0	1	0	4	99				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	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		20	47	0	0	0	1	0	20	47				
RBM17	84991	broad.mit.edu	37	10	6150700	6150700	+	Missense_Mutation	SNP	A	A	C	rs368547331		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr10:6150700A>C	ENST00000446108.1	+	6	1201	c.557A>C	c.(556-558)aAa>aCa	p.K186T	RBM17_ENST00000379888.4_Missense_Mutation_p.K186T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	186					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGAAAGACAAAGAGTGTAAG	0.488											OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ijb.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(556-558)aAa>aCa		Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.							145.0	136.0	139.0					10																	6150700		2203	4300	6503	SO:0001583	missense	84991				RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding	g.chr10:6150700A>C	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.557A>C	10.37:g.6150700A>C	ENSP00000388638:p.Lys186Thr		OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	631	RBM17_uc010qav.2_Missense_Mutation_p.K186T	p.K186T	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			5	783	+			186					Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.557A>C	CCDS7077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.72|13.72	2.321063|2.321063	0.41096|0.41096	.|.	.|.	ENSG00000134453|ENSG00000134453	ENST00000447032|ENST00000372795;ENST00000379888;ENST00000437845;ENST00000432931;ENST00000446108;ENST00000418631	T|T;T;T;T	0.47177|0.46819	0.85|0.86;0.86;0.86;0.86	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.121654|0.121654	0.56097|0.56097	D|D	0.000028|0.000028	T|T	0.24005|0.24005	0.0581|0.0581	N|N	0.04508|0.04508	-0.205|-0.205	0.40109|0.40109	D|D	0.976465|0.976465	.|B	.|0.27498	.|0.18	.|B	.|0.27076	.|0.076	T|T	0.12889|0.12889	-1.0530|-1.0530	8|10	0.14656|0.26408	T|T	0.56|0.33	-25.8673|-25.8673	9.2873|9.2873	0.37764|0.37764	0.9185:0.0:0.0815:0.0|0.9185:0.0:0.0815:0.0	.|.	.|186	.|Q96I25	.|SPF45_HUMAN	Q|T	93|154;186;154;185;186;186	ENSP00000406024:K93Q|ENSP00000369218:K186T;ENSP00000408214:K185T;ENSP00000388638:K186T;ENSP00000402303:K186T	ENSP00000406024:K93Q|ENSP00000361881:K154T	K|K	+|+	1|2	0|0	RBM17|RBM17	6190706|6190706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	5.437000|5.437000	0.66544|0.66544	1.931000|1.931000	0.55961|0.55961	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.488	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		4	19	0	0	0	1	0	4	19				
C16orf87	388272	broad.mit.edu	37	16	46843651	46843651	+	Silent	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:46843651T>C	ENST00000285697.4	-	3	471	c.210A>G	c.(208-210)agA>agG	p.R70R	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	70										large_intestine(4)|urinary_tract(1)	5						TTATCTTCTCTCTCCTAACTC	0.388																																						uc002eek.1																			0				large_intestine(4)|urinary_tract(1)	5						c.(208-210)agA>agG		Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA.							195.0	178.0	184.0					16																	46843651		2203	4300	6503	SO:0001819	synonymous_variant	388272							g.chr16:46843651T>C		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.210A>G	16.37:g.46843651T>C							p.R70R	NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN			2	223	-			70					Q63HN9	Silent	SNP	ENST00000285697.4	37	c.210A>G	CCDS10724.1																																																																																				0.388	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		3	115	0	0	0	1	0	3	115				
ASH1L	55870	broad.mit.edu	37	1	155491033	155491033	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:155491033G>C	ENST00000368346.3	-	2	917	c.278C>G	c.(277-279)gCt>gGt	p.A93G	ASH1L_ENST00000548830.1_Missense_Mutation_p.A93G|ASH1L_ENST00000392403.3_Missense_Mutation_p.A93G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	93					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTTCTCTTAGCCTGGAGGCC	0.383																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(277-279)gCt>gGt		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							157.0	162.0	160.0					1																	155491033		2203	4300	6503	SO:0001583	missense	55870				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491033G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.278C>G	1.37:g.155491033G>C	ENSP00000357330:p.Ala93Gly					ASH1L_uc001fkt.3_Missense_Mutation_p.A93G|ASH1L_uc009wqr.1_Missense_Mutation_p.A93G	p.A93G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		1	758	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		93					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.278C>G		.	.	.	.	.	.	.	.	.	.	G	28.4	4.915143	0.92178	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.91295	-2.82;-2.82	5.89	5.89	0.94794	.	0.075497	0.53938	D	0.000047	D	0.88385	0.6422	N	0.14661	0.345	0.49798	D	0.99982	D;D	0.58268	0.97;0.982	P;P	0.58013	0.681;0.831	D	0.90361	0.4373	10	0.66056	D	0.02	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	93;93	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	93	ENSP00000357330:A93G;ENSP00000376204:A93G	ENSP00000357330:A93G	A	-	2	0	ASH1L	153757657	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.926000	0.92839	2.788000	0.95919	0.557000	0.71058	GCT		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	222	0	0	0	1	0	8	222				
