#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
TMEM132D	121256	broad.mit.edu	37	12	129558772	129558772	+	Missense_Mutation	SNP	G	G	C	rs190298747	byFrequency	TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr12:129558772G>C	ENST00000422113.2	-	9	3274	c.2948C>G	c.(2947-2949)tCg>tGg	p.S983W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S521W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	983					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCATCTTGCGAGGAGGCAAA	0.493																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2947-2949)tCg>tGg		transmembrane protein 132D							116.0	103.0	107.0					12																	129558772		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558772G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2948C>G	12.37:g.129558772G>C	ENSP00000408581:p.Ser983Trp					TMEM132D_ENST00000389441.4_Missense_Mutation_p.S521W	p.S983W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3274	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	983					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2948C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555911	0.27827	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10477	2.87;3.68	4.14	3.21	0.36854	.	0.425407	0.21729	N	0.069996	T	0.16385	0.0394	L	0.43152	1.355	0.09310	N	0.999999	D;D	0.64830	0.994;0.988	P;P	0.57009	0.763;0.811	T	0.04537	-1.0944	9	.	.	.	-15.4305	7.4084	0.27004	0.0:0.1343:0.5236:0.3421	.	983;521	Q14C87;Q14C87-2	T132D_HUMAN;.	W	521;983	ENSP00000374092:S521W;ENSP00000408581:S983W	.	S	-	2	0	TMEM132D	128124725	0.994000	0.37717	0.003000	0.11579	0.301000	0.27625	2.849000	0.48286	0.802000	0.34089	0.411000	0.27672	TCG		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		72	140	0	0	0	0.870114	0	72	140				
CTCFL	140690	broad.mit.edu	37	20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	350					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1048-1050)gCc>gTc		CCCTC-binding factor (zinc finger protein)-like							193.0	180.0	184.0					20																	56093824		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093824G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1049C>T	20.37:g.56093824G>A	ENSP00000476783:p.Ala350Val					CTCFL_ENST00000433949.2_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000423479.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000422109.2_Missense_Mutation_p.A350V	p.A350V			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1710	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		350					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1049C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384711	0.82792	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.19105	3.12;3.12;3.12;2.17;3.12;3.12;2.17;3.12;2.17;3.12;3.12	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.39064	0.1064	L	0.41632	1.29	0.42331	D	0.992293	D;D;P;D;D;P;D;D	0.89917	1.0;0.994;0.89;1.0;0.999;0.94;0.999;0.999	D;D;P;D;D;P;D;D	0.87578	0.989;0.963;0.758;0.998;0.985;0.897;0.985;0.985	T	0.25847	-1.0120	10	0.72032	D	0.01	-29.0302	16.9368	0.86205	0.0:0.0:1.0:0.0	.	350;350;350;350;350;350;350;350	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	V	350;350;350;350;350;88;350;350;350;145;350	ENSP00000415579:A350V;ENSP00000243914:A350V;ENSP00000360239:A350V;ENSP00000415329:A350V;ENSP00000392034:A350V;ENSP00000437999:A88V;ENSP00000413713:A350V;ENSP00000403369:A350V;ENSP00000409344:A350V;ENSP00000439998:A145V;ENSP00000399061:A350V	ENSP00000243914:A350V	A	-	2	0	CTCFL	55527230	1.000000	0.71417	0.386000	0.26170	0.637000	0.38172	5.077000	0.64419	2.346000	0.79739	0.591000	0.81541	GCC		0.443	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		5	272	0	0	0	0.217242	0	5	272				
N4BP2L2	10443	broad.mit.edu	37	13	33110533	33110533	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr13:33110533T>C	ENST00000267068.3	-	2	796	c.632A>G	c.(631-633)aAt>aGt	p.N211S	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N211S|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	211					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GAGACCATTATTATGACCCTC	0.353																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(631-633)aAt>aGt		NEDD4 binding protein 2-like 2							70.0	71.0	70.0					13																	33110533		2203	4299	6502	SO:0001583	missense	10443							g.chr13:33110533T>C	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.632A>G	13.37:g.33110533T>C	ENSP00000267068:p.Asn211Ser					N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N211S|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.N211S	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	796	-		Lung SC(185;0.0262)	211					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.632A>G	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	9.572	1.121212	0.20877	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.41065	1.01;1.01;1.01	5.58	0.301	0.15781	.	.	.	.	.	T	0.33235	0.0856	L	0.55481	1.735	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.09377	0.004;0.001	T	0.34625	-0.9821	9	0.72032	D	0.01	-7.7112	3.7348	0.08507	0.2488:0.2738:0.0:0.4774	.	211;211	D6R968;Q92802	.;N42L2_HUMAN	S	211	ENSP00000394239:N211S;ENSP00000423362:N211S;ENSP00000267068:N211S	ENSP00000267068:N211S	N	-	2	0	N4BP2L2	32008533	0.000000	0.05858	0.000000	0.03702	0.689000	0.40095	-0.061000	0.11693	-0.143000	0.11334	0.460000	0.39030	AAT		0.353	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		66	117	0	0	0	0.870114	0	66	117				
OR51B4	79339	broad.mit.edu	37	11	5322806	5322806	+	Missense_Mutation	SNP	C	C	T	rs559479796		TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:5322806C>T	ENST00000380224.1	-	1	420	c.371G>A	c.(370-372)cGc>cAc	p.R124H	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	124					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R124H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGGTGTGCGGATGGCAAT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22654	0.0		0.0	False		,,,				2504	0.0					ENST00000380224.1																			1	Substitution - Missense(1)	p.R124H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(370-372)cGc>cAc		olfactory receptor, family 51, subfamily B, member 4							184.0	173.0	177.0					11																	5322806		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322806C>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.371G>A	11.37:g.5322806C>T	ENSP00000369573:p.Arg124His					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.R124H	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	420	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	124					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.371G>A	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167368	0.09339	.	.	ENSG00000183251	ENST00000380224	T	0.19806	2.12	4.71	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.466636	0.20302	N	0.095010	T	0.17662	0.0424	L	0.49126	1.545	0.09310	N	1	B	0.20988	0.05	B	0.15870	0.014	T	0.17137	-1.0379	10	0.49607	T	0.09	.	6.69	0.23165	0.0:0.6849:0.1473:0.1678	.	124	Q9Y5P0	O51B4_HUMAN	H	124	ENSP00000369573:R124H	ENSP00000369573:R124H	R	-	2	0	OR51B4	5279382	0.000000	0.05858	0.004000	0.12327	0.050000	0.14768	0.292000	0.19011	0.627000	0.30340	-0.736000	0.03550	CGC		0.453	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		4	138	0	0	0	0.150653	0	4	138				
CEP131	22994	broad.mit.edu	37	17	79180662	79180662	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr17:79180662G>A	ENST00000269392.4	-	5	644	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	AZI1_ENST00000575907.1_Missense_Mutation_p.P133S|AZI1_ENST00000450824.2_Missense_Mutation_p.P133S|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000374782.3_Missense_Mutation_p.P133S	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		133					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGCCCCGGGGCTGGTCATCC	0.652																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(397-399)Ccc>Tcc		5-azacytidine induced 1							53.0	62.0	59.0					17																	79180662		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79180662G>A																												ENST00000269392.4:c.397C>T	17.37:g.79180662G>A	ENSP00000269392:p.Pro133Ser					AZI1_ENST00000450824.2_Missense_Mutation_p.P133S|AZI1_ENST00000575907.1_Missense_Mutation_p.P133S|AZI1_ENST00000374782.3_Missense_Mutation_p.P133S	p.P133S	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	644	-	all_neural(118;0.0804)|Melanoma(429;0.242)		133					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.397C>T		.	.	.	.	.	.	.	.	.	.	g	19.78	3.891371	0.72524	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.18810	2.23;2.19;2.24	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.68952	2.095	0.47476	D	0.999439	P;P;D;D	0.89917	0.661;0.661;0.964;1.0	P;P;P;D	0.87578	0.508;0.508;0.851;0.998	T	0.46048	-0.9219	10	0.87932	D	0	-27.0548	15.6323	0.76920	0.0:0.0:1.0:0.0	.	133;133;133;133	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	S	133	ENSP00000393583:P133S;ENSP00000363914:P133S;ENSP00000269392:P133S	ENSP00000269392:P133S	P	-	1	0	AZI1	76795257	1.000000	0.71417	0.944000	0.38274	0.633000	0.38033	6.189000	0.72051	2.365000	0.80145	0.384000	0.25694	CCC		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			22	36	0	0	0	0.654019	0	22	36				
ASIC3	9311	broad.mit.edu	37	7	150746136	150746136	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr7:150746136C>A	ENST00000349064.5	+	1	362	c.164C>A	c.(163-165)aCc>aAc	p.T55N	ASIC3_ENST00000357922.4_Missense_Mutation_p.T55N|ASIC3_ENST00000297512.8_Missense_Mutation_p.T55N	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	55					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TCAGTGGCCACCTTCCTCTAC	0.662																																						ENST00000357922.4																			0											c.(163-165)aCc>aAc		acid-sensing (proton-gated) ion channel 3							67.0	58.0	61.0					7																	150746136		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746136C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.164C>A	7.37:g.150746136C>A	ENSP00000344838:p.Thr55Asn					ASIC3_ENST00000297512.8_Missense_Mutation_p.T55N|ASIC3_ENST00000349064.5_Missense_Mutation_p.T55N	p.T55N	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	758	+			55					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.164C>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915977	0.52546	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65178	-0.14;-0.14;-0.14	4.98	4.98	0.66077	.	0.770020	0.10446	U	0.673654	T	0.59004	0.2162	L	0.40543	1.245	0.27541	N	0.950802	P;B;P	0.40681	0.727;0.278;0.583	B;B;B	0.42692	0.395;0.306;0.36	T	0.55224	-0.8174	10	0.56958	D	0.05	-6.2697	11.9397	0.52894	0.0:0.8243:0.1757:0.0	.	55;55;55	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	N	55	ENSP00000350600:T55N;ENSP00000344838:T55N;ENSP00000297512:T55N	ENSP00000297512:T55N	T	+	2	0	ACCN3	150377069	0.065000	0.20965	0.990000	0.47175	0.819000	0.46315	1.088000	0.30877	2.480000	0.83734	0.462000	0.41574	ACC		0.662	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		5	40	1	0	0.00198382	0.248553	0.00240892	5	40				
CENPJ	55835	broad.mit.edu	37	13	25458475	25458475	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr13:25458475G>A	ENST00000381884.4	-	14	3789	c.3604C>T	c.(3604-3606)Cca>Tca	p.P1202S	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1202					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTGGTCTGGCATGACCTGC	0.453																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3604-3606)Cca>Tca		centromere protein J							130.0	114.0	119.0					13																	25458475		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25458475G>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3604C>T	13.37:g.25458475G>A	ENSP00000371308:p.Pro1202Ser					CENPJ_ENST00000545981.1_3'UTR	p.P1202S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	14	3789	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1202					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3604C>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612262	0.66672	.	.	ENSG00000151849	ENST00000381884	T	0.76060	-0.99	5.93	5.93	0.95920	.	0.170299	0.51477	D	0.000084	T	0.82208	0.4987	M	0.62016	1.91	0.80722	D	1	D	0.56521	0.976	P	0.62435	0.902	T	0.81172	-0.1054	10	0.44086	T	0.13	.	13.8105	0.63260	0.0:0.2568:0.7431:0.0	.	1202	Q9HC77	CENPJ_HUMAN	S	1202	ENSP00000371308:P1202S	ENSP00000371308:P1202S	P	-	1	0	CENPJ	24356475	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.363000	0.52321	2.815000	0.96918	0.561000	0.74099	CCA		0.453	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		4	131	0	0	0	0.184627	0	4	131				
RHOA	387	broad.mit.edu	37	3	49395503	49395503	+	IGR	SNP	C	C	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr3:49395503C>A	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.G70V|GPX1_ENST00000419783.1_Missense_Mutation_p.G70V	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCACCAGGCCCCGGGGTCC	0.697																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(208-210)gGc>gTc		glutathione peroxidase 1	Glutathione(DB00143)						12.0	16.0	15.0					3																	49395503		1862	4073	5935	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395503C>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395503C>A						GPX1_ENST00000419349.1_Missense_Mutation_p.G70V|GPX1_ENST00000496791.1_5'UTR	p.G70V	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	530	-			70					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.209G>T	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006075	0.93287	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.37058	3.13;1.22	5.88	5.0	0.66597	Thioredoxin-like fold (2);	0.055039	0.64402	D	0.000001	T	0.69260	0.3091	M	0.94142	3.5	0.80722	D	1	D;D	0.69078	0.997;0.989	D;D	0.67103	0.949;0.94	T	0.79813	-0.1645	10	0.87932	D	0	.	15.2504	0.73539	0.1414:0.8586:0.0:0.0	.	70;70	E9PAS1;P07203	.;GPX1_HUMAN	V	70	ENSP00000407375:G70V;ENSP00000391316:G70V	ENSP00000391316:G70V	G	-	2	0	GPX1	49370507	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	6.006000	0.70724	1.484000	0.48361	0.555000	0.69702	GGC		0.697	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	17	1	0	0.000602214	0.184627	0.000758344	4	17				
PTPRZ1	5803	broad.mit.edu	37	7	121636616	121636616	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr7:121636616A>T	ENST00000393386.2	+	9	1520	c.1109A>T	c.(1108-1110)gAc>gTc	p.D370V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D370V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	370	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGCTATCAAGACTTGGTAACT	0.338																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1108-1110)gAc>gTc		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							147.0	142.0	144.0					7																	121636616		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636616A>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1109A>T	7.37:g.121636616A>T	ENSP00000377047:p.Asp370Val					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D370V	p.D370V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			9	1520	+			370			Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1109A>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590909	0.86851	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.57595	0.39;0.39	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.64182	0.2575	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67385	-0.5684	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	370;370	C9JFM0;P23471	.;PTPRZ_HUMAN	V	370	ENSP00000377047:D370V;ENSP00000410000:D370V	ENSP00000377047:D370V	D	+	2	0	PTPRZ1	121423852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.710000	0.91388	2.246000	0.74042	0.533000	0.62120	GAC		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		68	232	0	0	0	0.870114	0	68	232				
MAP1B	4131	broad.mit.edu	37	5	71499625	71499625	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr5:71499625G>A	ENST00000296755.7	+	6	7546	c.7248G>A	c.(7246-7248)atG>atA	p.M2416I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2416	Mediates interaction with TMEM185A.				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGCAACATGCAGGTGAGAA	0.567																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(7246-7248)atG>atA		microtubule-associated protein 1B							49.0	50.0	50.0					5																	71499625		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71499625G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.7248G>A	5.37:g.71499625G>A	ENSP00000296755:p.Met2416Ile						p.M2416I	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	6	7546	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2416					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.7248G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936534	0.73442	.	.	ENSG00000131711	ENST00000296755	T	0.03004	4.08	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	N	0.14661	0.345	0.47441	D	0.999427	P	0.39831	0.69	B	0.33454	0.164	T	0.56171	-0.8023	10	0.72032	D	0.01	-23.9743	19.0887	0.93217	0.0:0.0:1.0:0.0	.	2416	P46821	MAP1B_HUMAN	I	2416	ENSP00000296755:M2416I	ENSP00000296755:M2416I	M	+	3	0	MAP1B	71535381	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.372000	0.66156	2.826000	0.97356	0.655000	0.94253	ATG		0.567	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	23	0	0	0	0.335167	0	9	23				
NEIL1	79661	broad.mit.edu	37	15	75647015	75647015	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr15:75647015G>A	ENST00000564784.1	+	10	1587	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.A320T|NEIL1_ENST00000355059.4_Missense_Mutation_p.A320T|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	320					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TCCAAGCAAGGCCCCTTCCAG	0.632								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(958-960)Gcc>Acc	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							48.0	52.0	50.0					15																	75647015		2197	4294	6491	SO:0001583	missense	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75647015G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.958G>A	15.37:g.75647015G>A	ENSP00000457352:p.Ala320Thr					NEIL1_ENST00000355059.4_Missense_Mutation_p.A320T|NEIL1_ENST00000569035.1_Missense_Mutation_p.A320T	p.A320T			Q96FI4	NEIL1_HUMAN			10	1587	+			320					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.958G>A	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331934	0.24167	.	.	ENSG00000140398	ENST00000355059	T	0.13089	2.62	3.65	0.591	0.17465	.	0.942829	0.08950	N	0.870319	T	0.11153	0.0272	L	0.50333	1.59	0.09310	N	1	B	0.15930	0.015	B	0.11329	0.006	T	0.40459	-0.9562	10	0.25106	T	0.35	-3.3838	2.9496	0.05858	0.2423:0.0:0.5311:0.2266	.	320	Q96FI4	NEIL1_HUMAN	T	320	ENSP00000347170:A320T	ENSP00000347170:A320T	A	+	1	0	NEIL1	73434068	0.000000	0.05858	0.019000	0.16419	0.019000	0.09904	-0.608000	0.05641	0.144000	0.18951	-0.266000	0.10368	GCC		0.632	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		20	45	0	0	0	0.575678	0	20	45				
CCDC15	80071	broad.mit.edu	37	11	124857562	124857562	+	Silent	SNP	A	A	G			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:124857562A>G	ENST00000344762.5	+	8	1699	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L	CCDC15_ENST00000529051.1_Silent_p.L480L	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	480						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTATCTAGAGACC	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1438-1440)ttA>ttG		coiled-coil domain containing 15							130.0	123.0	125.0					11																	124857562		1810	4072	5882	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124857562A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1440A>G	11.37:g.124857562A>G						CCDC15_ENST00000344762.5_Silent_p.L480L	p.L480L			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1699	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	480					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.1440A>G	CCDS44756.1																																																																																				0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	254	0	0	0	0.184627	0	5	254				
RRBP1	6238	broad.mit.edu	37	20	17641122	17641122	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr20:17641122C>T	ENST00000377813.1	-	3	334	c.31G>A	c.(31-33)Gtt>Att	p.V11I	RRBP1_ENST00000377807.2_Missense_Mutation_p.V11I|RRBP1_ENST00000360807.4_Missense_Mutation_p.V11I|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.V11I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	11					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AAGACCACAACCCCCAAGGTT	0.438																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(31-33)Gtt>Att		ribosome binding protein 1							83.0	81.0	82.0					20																	17641122		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17641122C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.31G>A	20.37:g.17641122C>T	ENSP00000367044:p.Val11Ile					RRBP1_ENST00000246043.4_Missense_Mutation_p.V11I|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.V11I|RRBP1_ENST00000360807.4_Missense_Mutation_p.V11I	p.V11I			Q9P2E9	RRBP1_HUMAN			3	334	-			11					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	C	15.67	2.902920	0.52227	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T	0.29655	1.56;2.07;1.56;2.07	4.54	4.54	0.55810	.	0.000000	0.29594	N	0.011715	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	B	0.29988	0.264	B	0.21151	0.033	T	0.10567	-1.0624	10	0.62326	D	0.03	-12.5258	16.6221	0.84933	0.0:1.0:0.0:0.0	.	11	Q9P2E9-3	.	I	11	ENSP00000354045:V11I;ENSP00000367044:V11I;ENSP00000367038:V11I;ENSP00000246043:V11I	ENSP00000246043:V11I	V	-	1	0	RRBP1	17589122	0.991000	0.36638	0.988000	0.46212	0.902000	0.53008	2.530000	0.45641	2.247000	0.74100	0.655000	0.94253	GTT		0.438	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		20	58	0	0	0	0.575678	0	20	58				
ATAD2B	54454	broad.mit.edu	37	2	23977134	23977134	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr2:23977134A>C	ENST00000238789.5	-	27	4593	c.4250T>G	c.(4249-4251)gTt>gGt	p.V1417G	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1417						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGATCAACTGCCAGATT	0.318																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(4249-4251)gTt>gGt		ATPase family, AAA domain containing 2B							41.0	38.0	39.0					2																	23977134		1831	4081	5912	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23977134A>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4250T>G	2.37:g.23977134A>C	ENSP00000238789:p.Val1417Gly					ATAD2B_ENST00000474583.1_5'UTR	p.V1417G	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			27	4593	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1417					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.4250T>G	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.465478|4.465478	0.84425|0.84425	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.95622	.|-3.76	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.97303|0.97303	0.9118|0.9118	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.80764	.|0.987;0.994	D|D	0.98019|0.98019	1.0370|1.0370	5|10	.|0.87932	.|D	.|0	.|.	15.8632|15.8632	0.79040|0.79040	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1417;1412	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	V|G	693|1417;585	.|ENSP00000238789:V1417G	.|ENSP00000238789:V1417G	L|V	-|-	1|2	2|0	ATAD2B|ATAD2B	23830638|23830638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.631000|7.631000	0.83237|0.83237	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		4	12	0	0	0	0.150653	0	4	12				
LRRC37BP1	147172	broad.mit.edu	37	17	28961222	28961222	+	RNA	SNP	C	C	G			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr17:28961222C>G	ENST00000417404.1	+	0	1480									leucine rich repeat containing 37B pseudogene 1																		TGACATTCTTCTTCTGTCATT	0.378																																						ENST00000417404.1																			0																																																			147172							g.chr17:28961222C>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961222C>G						SMURF2P1_ENST00000578265.1_RNA								0	1480	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.378	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		3	3	0	0	0	0.150653	0	3	3				
GRK6	2870	broad.mit.edu	37	5	176857936	176857936	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr5:176857936T>C	ENST00000355472.5	+	2	284	c.116T>C	c.(115-117)aTc>aCc	p.I39T	GRK6_ENST00000507633.1_Missense_Mutation_p.I39T|GRK6_ENST00000528793.1_Missense_Mutation_p.I39T|GRK6_ENST00000393576.3_Missense_Mutation_p.I39T|GRK6_ENST00000355958.5_Missense_Mutation_p.I39T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	39	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCCTCACATCAGCCAGTGC	0.647																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(115-117)aTc>aCc		G protein-coupled receptor kinase 6							59.0	51.0	54.0					5																	176857936		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176857936T>C		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.116T>C	5.37:g.176857936T>C	ENSP00000347655:p.Ile39Thr					GRK6_ENST00000528793.1_Missense_Mutation_p.I39T|GRK6_ENST00000393576.3_Missense_Mutation_p.I39T|GRK6_ENST00000355958.5_Missense_Mutation_p.I39T|GRK6_ENST00000507633.1_Missense_Mutation_p.I39T	p.I39T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	284	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	39			N-terminal.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.116T>C	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568757	0.28003	.	.	ENSG00000198055	ENST00000502598;ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793;ENST00000512684	T;T;T;T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26	4.83	4.83	0.62350	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	M	0.77406	2.37	0.80722	D	1	B;B;B	0.32010	0.351;0.259;0.012	B;B;B	0.36289	0.187;0.221;0.008	T	0.03463	-1.1034	10	0.59425	D	0.04	-17.9949	14.3978	0.67022	0.0:0.0:0.0:1.0	.	39;39;39	P43250;P43250-2;D6RHX8	GRK6_HUMAN;.;.	T	7;7;7;39;39;39;39;39;7	ENSP00000422873:I7T;ENSP00000421055:I7T;ENSP00000425391:I7T;ENSP00000347655:I39T;ENSP00000427581:I39T;ENSP00000377204:I39T;ENSP00000348230:I39T;ENSP00000433511:I39T	ENSP00000347655:I39T	I	+	2	0	GRK6	176790542	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	6.148000	0.71788	1.794000	0.52575	0.379000	0.24179	ATC		0.647	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		4	11	0	0	0	0.278610	0	4	11				
ZNF214	7761	broad.mit.edu	37	11	7022784	7022784	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:7022784T>G	ENST00000278314.4	-	3	445	c.130A>C	c.(130-132)Aac>Cac	p.N44H	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Missense_Mutation_p.N44H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCATTCCAGTTTTCTAGAAAA	0.338																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(130-132)Aac>Cac		zinc finger protein 214							30.0	36.0	34.0					11																	7022784		2145	4165	6310	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022784T>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.130A>C	11.37:g.7022784T>G	ENSP00000278314:p.Asn44His					ZNF214_ENST00000536068.1_Missense_Mutation_p.N44H|ZNF214_ENST00000531083.1_5'UTR	p.N44H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	445	-			44			KRAB.		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.130A>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	T	2.347	-0.349864	0.05173	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.00792	5.69;5.69	4.14	1.81	0.25067	Krueppel-associated box (3);	0.159642	0.29529	N	0.011883	T	0.00440	0.0014	N	0.08118	0	0.09310	N	0.999995	B	0.19200	0.034	B	0.12156	0.007	T	0.47071	-0.9145	10	0.13853	T	0.58	.	5.3724	0.16146	0.0:0.0997:0.1804:0.7198	.	44	Q9UL59	ZN214_HUMAN	H	44	ENSP00000278314:N44H;ENSP00000445373:N44H	ENSP00000278314:N44H	N	-	1	0	ZNF214	6979360	0.344000	0.24827	0.799000	0.32177	0.031000	0.12232	0.494000	0.22467	0.732000	0.32470	0.533000	0.62120	AAC		0.338	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			47	94	0	0	0	0.870114	0	47	94				
SLC12A4	6560	broad.mit.edu	37	16	67985066	67985066	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr16:67985066C>T	ENST00000316341.3	-	9	1414	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	SLC12A4_ENST00000422611.2_Missense_Mutation_p.G427D|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425D|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419D|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425D|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377D|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394D|SLC12A4_ENST00000572010.1_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	425					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAAGAAGATGCCGACCAGCAC	0.622																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1279-1281)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						172.0	150.0	158.0					16																	67985066		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985066C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1274G>A	16.37:g.67985066C>T	ENSP00000318557:p.Gly425Asp					SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425D|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394D|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425D|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G425D|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377D|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419D	p.G427D	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	8	1319	-		Ovarian(137;0.192)	425					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1280G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883547	0.91740	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.11	5.11	0.69529	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.97110	0.975;0.991;1.0;0.984;0.984;0.991	D	0.98425	1.0579	10	0.87932	D	0	.	18.8996	0.92437	0.0:1.0:0.0:0.0	.	427;425;394;419;425;425	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	D	427;394;419;425;425	ENSP00000395983:G427D;ENSP00000438334:G394D;ENSP00000445962:G419D;ENSP00000343374:G425D;ENSP00000318557:G425D	ENSP00000318557:G425D	G	-	2	0	SLC12A4	66542567	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.758000	0.85224	2.541000	0.85698	0.561000	0.74099	GGC		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		4	129	0	0	0	0.150653	0	4	129				
PYGM	5837	broad.mit.edu	37	11	64514806	64514806	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:64514806A>C	ENST00000164139.3	-	18	2600	c.2202T>G	c.(2200-2202)gaT>gaG	p.D734E	RASGRP2_ENST00000354024.3_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.D646E|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	734					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGAATGCGATCGTAGTACT	0.552																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2200-2202)gaT>gaG		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						139.0	114.0	122.0					11																	64514806		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514806A>C		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2202T>G	11.37:g.64514806A>C	ENSP00000164139:p.Asp734Glu					PYGM_ENST00000377432.3_Missense_Mutation_p.D646E	p.D734E	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			18	2600	-			734					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.2202T>G	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	5.470	0.271832	0.10349	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92858	-2.99;-3.12	4.52	2.6	0.31112	.	0.000000	0.48767	D	0.000173	T	0.71837	0.3387	N	0.01446	-0.86	0.36449	D	0.865967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.66052	-0.6019	10	0.02654	T	1	-27.5322	6.5476	0.22414	0.0981:0.3524:0.5496:0.0	.	646;734	A6NDY6;P11217	.;PYGM_HUMAN	E	646;734;715	ENSP00000366650:D646E;ENSP00000164139:D734E	ENSP00000164139:D734E	D	-	3	2	PYGM	64271382	1.000000	0.71417	0.972000	0.41901	0.806000	0.45545	1.021000	0.30040	0.515000	0.28320	-0.381000	0.06696	GAT		0.552	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		20	44	0	0	0	0.654019	0	20	44				
RPH3A	22895	broad.mit.edu	37	12	113303233	113303233	+	Missense_Mutation	SNP	G	G	A	rs141736304		TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr12:113303233G>A	ENST00000389385.4	+	6	742	c.245G>A	c.(244-246)cGc>cAc	p.R82H	RPH3A_ENST00000543106.2_Missense_Mutation_p.R82H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R78H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R33H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R33H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R82H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R82H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	82	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTGGTGGACCGCCTAGAAAAC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19805	0.0		0.0	False		,,,				2504	0.001					ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(244-246)cGc>cAc		rabphilin 3A homolog (mouse)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	194.0	175.0	181.0		245,233	4.7	1.0	12	dbSNP_134	181	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	29,29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	82/695,78/691	113303233	3,13003	2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113303233G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.245G>A	12.37:g.113303233G>A	ENSP00000374036:p.Arg82His					RPH3A_ENST00000447659.2_Missense_Mutation_p.R33H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R82H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R82H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R82H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R78H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R33H	p.R82H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	6	742	+			82			RabBD.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.245G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765225	0.90020	0.0	3.49E-4	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.61	4.72	0.59763	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.193307	0.36200	N	0.002739	T	0.72078	0.3416	M	0.75615	2.305	0.54753	D	0.999988	B;P;B;B	0.35944	0.14;0.529;0.185;0.154	B;B;B;B	0.24269	0.029;0.052;0.026;0.015	T	0.74237	-0.3730	10	0.72032	D	0.01	.	9.5359	0.39222	0.1613:0.0:0.8387:0.0	.	33;82;82;78	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	82;82;82;82;82;82;82;82;82;82;82;33;15;82;78;82;82;33;82	ENSP00000446570:R82H;ENSP00000449705:R82H;ENSP00000440384:R82H;ENSP00000446780:R82H;ENSP00000447306:R82H;ENSP00000446556:R82H;ENSP00000450382:R82H;ENSP00000449613:R82H;ENSP00000447505:R82H;ENSP00000449650:R82H;ENSP00000374036:R82H;ENSP00000413254:R33H;ENSP00000448100:R15H;ENSP00000447083:R82H;ENSP00000448297:R78H;ENSP00000405357:R82H;ENSP00000450216:R82H;ENSP00000450347:R33H;ENSP00000408889:R82H	ENSP00000374036:R82H	R	+	2	0	RPH3A	111787616	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	6.061000	0.71148	1.366000	0.46076	0.655000	0.94253	CGC		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		58	127	0	0	0	0.870114	0	58	127				
GPR107	57720	broad.mit.edu	37	9	132890996	132890996	+	Silent	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr9:132890996C>T	ENST00000372406.1	+	19	2169	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	GPR107_ENST00000372410.3_Silent_p.Y525Y|GPR107_ENST00000347136.6_Silent_p.Y506Y	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	554						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				ATAACCCCTACCTACAACTTT	0.468																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1660-1662)taC>taT		G protein-coupled receptor 107							151.0	155.0	154.0					9																	132890996		2203	4300	6503	SO:0001819	synonymous_variant	57720					integral to membrane		g.chr9:132890996C>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1662C>T	9.37:g.132890996C>T						GPR107_ENST00000372410.3_Silent_p.Y525Y|GPR107_ENST00000347136.6_Silent_p.Y506Y	p.Y554Y	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			19	2169	+		Ovarian(14;0.000531)	554					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	c.1662C>T	CCDS48041.1																																																																																				0.468	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			78	163	0	0	0	0.870114	0	78	163				
SLC12A1	6557	broad.mit.edu	37	15	48559860	48559860	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr15:48559860G>A	ENST00000558405.1	+	17	2271	c.2257G>A	c.(2257-2259)Gca>Aca	p.A753T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A753T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.A753T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	753					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGCAGTGGCGGCAGACTGTTT	0.458																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2257-2259)Gca>Aca		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						129.0	132.0	131.0					15																	48559860		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48559860G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2257G>A	15.37:g.48559860G>A	ENSP00000453409:p.Ala753Thr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.A753T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A753T	p.A753T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	18	2472	+		all_lung(180;0.00219)	753					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2257G>A	CCDS10129.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.155557|4.155557	0.78114|0.78114	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000546071|ENST00000428362	D;D|.	0.96041|.	-3.89;-3.89|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.163360|.	0.56097|.	D|.	0.000032|.	T|T	0.73705|0.73705	0.3621|0.3621	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999995|0.999995	P;P|.	0.41748|.	0.594;0.761|.	B;P|.	0.45660|.	0.164;0.489|.	T|T	0.65932|0.65932	-0.6048|-0.6048	10|6	0.59425|0.09590	D|T	0.04|0.72	.|.	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	753;753|.	E9PDW4;Q13621|.	.;S12A1_HUMAN|.	T|D	753;753;147|565	ENSP00000370381:A753T;ENSP00000379822:A753T|.	ENSP00000370381:A753T|ENSP00000410367:G565D	A|G	+|+	1|2	0|0	SLC12A1|SLC12A1	46347152|46347152	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.954000|0.954000	0.61252|0.61252	5.068000|5.068000	0.64364|0.64364	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.458	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			4	88	0	0	0	0.150653	0	4	88				
SAG	6295	broad.mit.edu	37	2	234237129	234237129	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr2:234237129C>T	ENST00000409110.1	+	8	748	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SAG_ENST00000449594.2_Missense_Mutation_p.S39F	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	173					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CACAGGAGCTCCGTGCGATTA	0.587																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(517-519)tCc>tTc		S-antigen; retina and pineal gland (arrestin)							158.0	138.0	144.0					2																	234237129		1982	4153	6135	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237129C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.518C>T	2.37:g.234237129C>T	ENSP00000386444:p.Ser173Phe					SAG_ENST00000449594.2_Missense_Mutation_p.S39F	p.S173F	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	748	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	173					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.518C>T	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198935	0.58126	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.19669	2.39;2.13	4.18	4.18	0.49190	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.055000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.77004	0.885;0.989	T	0.65487	-0.6156	10	0.87932	D	0	-10.7322	17.0843	0.86606	0.0:1.0:0.0:0.0	.	39;173	B7Z7L5;P10523	.;ARRS_HUMAN	F	173;173;39	ENSP00000386444:S173F;ENSP00000392889:S39F	ENSP00000252857:S173F	S	+	2	0	SAG	233901868	1.000000	0.71417	0.994000	0.49952	0.006000	0.05464	4.747000	0.62141	2.337000	0.79520	0.650000	0.86243	TCC		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		30	53	0	0	0	0.706142	0	30	53				
DOCK4	9732	broad.mit.edu	37	7	111424166	111424166	+	Intron	SNP	C	C	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr7:111424166C>A	ENST00000437633.1	-	33	3658				DOCK4_ENST00000428084.1_Missense_Mutation_p.G1139C|DOCK4_ENST00000494651.2_Missense_Mutation_p.G13C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGATAGGGACCAAATAGTGGA	0.343																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3415-3417)Ggt>Tgt		dedicator of cytokinesis 4							18.0	17.0	17.0					7																	111424166		873	1991	2864	SO:0001627	intron_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111424166C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3402-158G>T	7.37:g.111424166C>A						DOCK4_ENST00000437633.1_Intron|DOCK4_ENST00000494651.2_Missense_Mutation_p.G13C	p.G1139C			Q8N1I0	DOCK4_HUMAN			33	3687	-		Acute lymphoblastic leukemia(1;0.0441)	1134			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3415G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.27|19.27	3.796090|3.796090	0.70567|0.70567	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000428084;ENST00000494651;ENST00000342288;ENST00000450156;ENST00000417165|ENST00000423057;ENST00000445943	T;T;T;T|.	0.60171|.	0.21;0.21;0.21;0.21|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.050804|.	0.85682|.	D|.	0.000000|.	T|T	0.73426|0.73426	0.3585|0.3585	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	T|T	0.73300|0.73300	-0.4026|-0.4026	9|4	0.44086|.	T|.	0.13|.	.|.	17.6745|17.6745	0.88226|0.88226	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	37;13;1175;1139|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0-2|.	.;.;.;.|.	C|F	1139;13;1127;13;37|590;1162	ENSP00000410746:G1139C;ENSP00000440944:G13C;ENSP00000406468:G13C;ENSP00000403504:G37C|.	ENSP00000345432:G1127C|.	G|L	-|-	1|3	0|2	DOCK4|DOCK4	111211402|111211402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.278000|7.278000	0.78587|0.78587	2.477000|2.477000	0.83638|0.83638	0.557000|0.557000	0.71058|0.71058	GGT|TTG		0.343	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	16	1	0	0.0381472	0.278610	0.0432335	6	16				
ZNF320	162967	broad.mit.edu	37	19	53384636	53384636	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr19:53384636T>C	ENST00000595635.1	-	8	1244	c.743A>G	c.(742-744)aAt>aGt	p.N248S	ZNF320_ENST00000391781.2_Missense_Mutation_p.N248S|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GCCACACTCATTACACTTATA	0.393																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(742-744)aAt>aGt		zinc finger protein 320							134.0	121.0	125.0					19																	53384636		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384636T>C	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.743A>G	19.37:g.53384636T>C	ENSP00000473091:p.Asn248Ser					ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.N248S|ZNF320_ENST00000600930.1_Intron	p.N248S	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	1244	-			248					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.743A>G	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	9.008	0.981840	0.18812	.	.	ENSG00000182986	ENST00000391781	T	0.16324	2.35	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	N	0.02011	-0.69	0.09310	N	1	P	0.36086	0.536	B	0.43445	0.42	T	0.27123	-1.0083	9	0.41790	T	0.15	.	5.2262	0.15396	0.2575:0.0:0.0:0.7425	.	248	A2RRD8	ZN320_HUMAN	S	248	ENSP00000375660:N248S	ENSP00000375660:N248S	N	-	2	0	ZNF320	58076448	0.000000	0.05858	0.005000	0.12908	0.169000	0.22640	-4.180000	0.00279	0.792000	0.33850	0.155000	0.16302	AAT		0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		76	145	0	0	0	0.870114	0	76	145				
TGM6	343641	broad.mit.edu	37	20	2411617	2411617	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr20:2411617G>T	ENST00000202625.2	+	12	1972	c.1911G>T	c.(1909-1911)aaG>aaT	p.K637N	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	637					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGAGAGTGAAGGACTGTGCGC	0.597																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1909-1911)aaG>aaT		transglutaminase 6	L-Glutamine(DB00130)						149.0	124.0	132.0					20																	2411617		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411617G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1911G>T	20.37:g.2411617G>T	ENSP00000202625:p.Lys637Asn					TGM6_ENST00000381423.1_Intron	p.K637N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			12	1972	+			637					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1911G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394812	0.25205	.	.	ENSG00000166948	ENST00000202625	T	0.69926	-0.44	5.24	0.829	0.18847	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.756370	0.12934	N	0.427115	T	0.47838	0.1467	L	0.36672	1.1	0.58432	D	0.999997	B	0.28470	0.213	B	0.25506	0.061	T	0.28267	-1.0049	10	0.25106	T	0.35	-5.8764	3.507	0.07695	0.2853:0.0:0.5264:0.1883	.	637	O95932	TGM3L_HUMAN	N	637	ENSP00000202625:K637N	ENSP00000202625:K637N	K	+	3	2	TGM6	2359617	0.077000	0.21312	0.766000	0.31476	0.701000	0.40568	0.028000	0.13644	0.370000	0.24538	0.655000	0.94253	AAG		0.597	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		5	193	1	0	0.014758	0.184627	0.0173025	5	193				
ZNF782	158431	broad.mit.edu	37	9	99581991	99581991	+	Frame_Shift_Del	DEL	A	A	-	rs202222530		TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr9:99581991delA	ENST00000481138.1	-	6	975	c.314delT	c.(313-315)ttafs	p.L105fs	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTGGTGAATAAAACTTGCAA	0.323																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(313-315)tafs		zinc finger protein 782																																				SO:0001589	frameshift_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581991delA	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.314delT	9.37:g.99581991delA	ENSP00000419397:p.Leu105fs					ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR	p.L105fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	975	-		Acute lymphoblastic leukemia(62;0.0527)	105					B2RNR0	Frame_Shift_Del	DEL	ENST00000481138.1	37	c.314delT	CCDS35075.1																																																																																				0.323	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		31	67						31	67	---	---	---	---
