#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
SLC6A9	6536	broad.mit.edu	37	1	44482733	44482733	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:44482733A>G	ENST00000360584.2	-	1	264	c.73T>C	c.(73-75)Tct>Cct	p.S25P	SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_5'Flank|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S25P|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	25					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCTGGGGAAGAGGGGGCCACA	0.672																																						ENST00000360584.2																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(73-75)Tct>Cct		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						28.0	34.0	32.0					1																	44482733		2123	4222	6345	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44482733A>G	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.73T>C	1.37:g.44482733A>G	ENSP00000353791:p.Ser25Pro					SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S25P|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000475075.2_Intron	p.S25P	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN			1	264	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	25					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.73T>C	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	A	9.467	1.094615	0.20471	.	.	ENSG00000196517	ENST00000360584;ENST00000357730;ENST00000528803	T;T;T	0.74315	-0.83;-0.81;-0.71	5.09	1.27	0.21489	.	126.916000	0.00166	N	0.000000	T	0.54240	0.1846	N	0.08118	0	0.80722	D	1	B;B;B	0.28512	0.214;0.0;0.0	B;B;B	0.26517	0.07;0.0;0.0	T	0.48080	-0.9066	10	0.30854	T	0.27	.	4.0554	0.09814	0.6297:0.1798:0.1905:0.0	.	25;25;25	B7Z3W8;P48067-3;P48067	.;.;SC6A9_HUMAN	P	25	ENSP00000353791:S25P;ENSP00000350362:S25P;ENSP00000435652:S25P	ENSP00000350362:S25P	S	-	1	0	SLC6A9	44255320	0.975000	0.34042	0.997000	0.53966	0.634000	0.38068	0.053000	0.14184	0.296000	0.22592	0.454000	0.30748	TCT		0.672	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		3	51	0	0	0	1	0	3	51				
TMPRSS4	56649	broad.mit.edu	37	11	117984149	117984149	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr11:117984149A>G	ENST00000437212.3	+	9	1123	c.909A>G	c.(907-909)tcA>tcG	p.S303S	TMPRSS4_ENST00000534111.1_Splice_Site_p.S301S|TMPRSS4_ENST00000522307.1_Splice_Site_p.S156S|TMPRSS4_ENST00000523251.1_Splice_Site_p.S263S|TMPRSS4_ENST00000522824.1_Splice_Site_p.S298S|TMPRSS4_ENST00000518413.2_3'UTR			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	303	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCACTTTCTCAGGTGAGAAGC	0.517																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.e9+1		transmembrane protease, serine 4							116.0	97.0	104.0					11																	117984149		2200	4296	6496	SO:0001630	splice_region_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117984149A>G	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.910+1A>G	11.37:g.117984149A>G						TMPRSS4_ENST00000523251.1_Splice_Site_p.S263_splice|TMPRSS4_ENST00000522824.1_Splice_Site_p.S298_splice|TMPRSS4_ENST00000522307.1_Splice_Site_p.S156_splice|TMPRSS4_ENST00000437212.3_Splice_Site_p.S303_splice|TMPRSS4_ENST00000518413.2_3'UTR	p.S301_splice	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	9	1168	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	303			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Splice_Site	SNP	ENST00000437212.3	37	c.904_splice	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	A	7.052	0.564659	0.13498	.	.	ENSG00000137648	ENST00000524218	.	.	.	5.3	1.71	0.24356	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41448	-0.9508	4	.	.	.	.	6.8428	0.23973	0.5507:0.3135:0.0:0.1358	.	.	.	.	R	48	.	.	Q	+	2	0	TMPRSS4	117489359	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	0.906000	0.28517	0.036000	0.15547	0.533000	0.62120	CAG		0.517	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	Silent	3	81	0	0	0	1	0	3	81				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	47	0	0	0	1	0	3	47				
FHOD1	29109	broad.mit.edu	37	16	67264231	67264231	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr16:67264231G>A	ENST00000258201.4	-	19	3284	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1013	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTGATCATGCGTCCCCGGGTC	0.582																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3037-3039)Cgc>Tgc		formin homology 2 domain containing 1							76.0	75.0	76.0					16																	67264231		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264231G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3037C>T	16.37:g.67264231G>A	ENSP00000258201:p.Arg1013Cys					FHOD1_ENST00000567687.1_Missense_Mutation_p.R592C	p.R1013C	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3284	-		Ovarian(137;0.0563)	1013			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3037C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736847	0.69304	.	.	ENSG00000135723	ENST00000258201	T	0.39056	1.1	5.09	5.09	0.68999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.048641	0.85682	D	0.000000	T	0.57315	0.2045	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.58885	-0.7557	10	0.87932	D	0	.	12.3301	0.55035	0.0:0.0:0.8312:0.1688	.	1013	Q9Y613	FHOD1_HUMAN	C	1013	ENSP00000258201:R1013C	ENSP00000258201:R1013C	R	-	1	0	FHOD1	65821732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.834000	0.55798	2.656000	0.90262	0.561000	0.74099	CGC		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			3	66	0	0	0	1	0	3	66				
PRDM7	11105	broad.mit.edu	37	16	90126912	90126912	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr16:90126912G>T	ENST00000449207.2	-	9	1089	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	357	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			S -> Y (in Ref. 2; AAF78084). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCAGACCAGACCAG	0.532																																						ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1069-1071)tCt>tAt		PR domain containing 7							96.0	94.0	95.0					16																	90126912		1943	4141	6084	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126912G>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1070C>A	16.37:g.90126912G>T	ENSP00000396732:p.Ser357Tyr					PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	p.S357Y	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1089	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	357	S -> Y (in Ref. 2; AAF78084).		SET.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1070C>A	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.292468	0.00001	.	.	ENSG00000126856	ENST00000449207	T	0.51325	0.71	1.03	-2.05	0.07321	SET domain (2);	.	.	.	.	T	0.07234	0.0183	N	0.00034	-2.56	0.58432	D	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.36359	-0.9751	8	.	.	.	-4.4407	4.493	0.11822	0.0:0.0:0.3252:0.6748	.	357	Q9NQW5	PRDM7_HUMAN	Y	357	ENSP00000396732:S357Y	.	S	-	2	0	PRDM7	88654413	0.958000	0.32768	0.006000	0.13384	0.144000	0.21451	1.035000	0.30216	-2.081000	0.00869	-1.919000	0.00516	TCT		0.532	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			3	78	1	0	0.115264	1	0.120503	3	78				
SEMA6A	57556	broad.mit.edu	37	5	115783144	115783144	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr5:115783144G>A	ENST00000343348.6	-	19	3045	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	SEMA6A_ENST00000513137.1_Missense_Mutation_p.T180M|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T753M|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T770M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T230M|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T132M	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	753					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGGAGGGCCGTCAGGTCCAG	0.637																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2257-2259)aCg>aTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							113.0	126.0	121.0					5																	115783144		2181	4270	6451	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783144G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2258C>T	5.37:g.115783144G>A	ENSP00000345512:p.Thr753Met					SEMA6A_ENST00000513137.1_Missense_Mutation_p.T180M|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T753M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T770M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T230M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T132M	p.T753M	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3045	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	753					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2258C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286663|2.286663	0.40494|0.40494	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.45276	.|2.2;2.2;0.9;2.71;0.9;2.2	5.2|5.2	4.31|4.31	0.51392|0.51392	.|.	.|0.262839	.|0.38005	.|N	.|0.001859	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.08118|0.08118	0|0	0.42214|0.42214	D|D	0.991826|0.991826	.|P;P;P;P;P;P	.|0.50819	.|0.939;0.752;0.752;0.843;0.872;0.809	.|B;B;B;P;B;B	.|0.44946	.|0.406;0.24;0.323;0.465;0.198;0.337	T|T	0.34104|0.34104	-0.9842|-0.9842	5|10	.|0.87932	.|D	.|0	.|.	15.2272|15.2272	0.73359|0.73359	0.0:0.1415:0.8585:0.0|0.0:0.1415:0.8585:0.0	.|.	.|132;753;297;770;230;180	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	W|M	268|753;770;180;230;132;753	.|ENSP00000345512:T753M;ENSP00000257414:T770M;ENSP00000422997:T180M;ENSP00000282394:T230M;ENSP00000425364:T132M;ENSP00000424388:T753M	.|ENSP00000257414:T770M	R|T	-|-	1|2	2|0	SEMA6A|SEMA6A	115811043|115811043	1.000000|1.000000	0.71417|0.71417	0.639000|0.639000	0.29394|0.29394	0.854000|0.854000	0.48673|0.48673	7.602000|7.602000	0.82796|0.82796	1.146000|1.146000	0.42352|0.42352	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.637	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	243	0	0	0	1	0	5	243				
KIAA1683	80726	broad.mit.edu	37	19	18368263	18368263	+	Silent	SNP	G	G	A	rs369557718		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:18368263G>A	ENST00000600328.3	-	4	3463	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G	KIAA1683_ENST00000600359.3_Silent_p.G1044G|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.G1277G			Q9H0B3	K1683_HUMAN	KIAA1683	1090						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCCCCGGGGCCCTCAGTGC	0.687																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3829-3831)ggC>ggT		KIAA1683		G	,,	3,4391		0,3,2194	17.0	19.0	18.0		3831,3132,3270	2.2	0.0	19		18	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	,,	0,3,6489	AA,AG,GG		0.0,0.0683,0.0231	,,	1277/1368,1044/1135,1090/1181	18368263	3,12981	2197	4295	6492	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368263G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3270C>T	19.37:g.18368263G>A						KIAA1683_ENST00000600359.2_Silent_p.G1044G|KIAA1683_ENST00000600328.2_Silent_p.G1090G	p.G1277G	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	4046	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3831C>T	CCDS32958.1																																																																																				0.687	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			4	22	0	0	0	1	0	4	22				
PDE4DIP	9659	broad.mit.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.C1297R(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4297-4299)Tgt>Cgt		phosphodiesterase 4D interacting protein							46.0	49.0	48.0					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R	p.C1433R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4335	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4297T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	60	0	0	0	1	0	3	60				
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		olfactory receptor, family 6, subfamily K, member 6							149.0	140.0	143.0					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1027	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	100	0	0	0	1	0	3	100				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		4	145	0	0	0	1	0	4	145				
ZNF749	388567	broad.mit.edu	37	19	57956103	57956103	+	Silent	SNP	T	T	C			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1585-1587)caT>caC		zinc finger protein 749							97.0	93.0	94.0					19																	57956103		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956103T>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1587T>C	19.37:g.57956103T>C						AC004076.9_ENST00000596831.1_Intron	p.H529H	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1837	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	529						Silent	SNP	ENST00000334181.4	37	c.1587T>C	CCDS33132.2																																																																																				0.453	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	102	0	0	0	1	0	4	102				
CBX2	84733	broad.mit.edu	37	17	77755652	77755652	+	Intron	SNP	G	G	A	rs201168057		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr17:77755652G>A	ENST00000310942.4	+	4	392				CBX2_ENST00000269399.5_Missense_Mutation_p.V114I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2						cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V114L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCTTGGCGTAGGGGGCAG	0.637																																						ENST00000269399.5																			1	Substitution - Missense(1)	p.V114L(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(340-342)Gta>Ata		chromobox homolog 2		G	,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	40.0	47.0	45.0		,340	-2.8	0.0	17		45	0,8596		0,0,4298	no	intron,missense	CBX2	NM_005189.2,NM_032647.3	,29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	,114/212	77755652	1,13001	2203	4298	6501	SO:0001627	intron_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77755652G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.288+52G>A	17.37:g.77755652G>A						CBX2_ENST00000310942.4_Intron	p.V114I	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	382	+			0			Ser-rich.		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.340G>A	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759571	0.31137	2.27E-4	0.0	ENSG00000173894	ENST00000269399	.	.	.	3.44	-2.75	0.05914	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.09310	N	1	P	0.38863	0.65	B	0.26614	0.071	T	0.18085	-1.0348	6	.	.	.	.	0.5403	0.00644	0.3715:0.1867:0.2668:0.1749	.	114	Q14781-2	.	I	114	.	.	V	+	1	0	CBX2	75370247	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.406000	0.02490	-0.380000	0.07894	0.561000	0.74099	GTA		0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		4	61	0	0	0	1	0	4	61				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	125	0	0	0	1	0	5	125				
ITPR2	3709	broad.mit.edu	37	12	26809335	26809335	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr12:26809335C>T	ENST00000381340.3	-	19	2755	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	780					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GAGCATGAGGCGACAGAAGGA	0.562																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2338-2340)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 2							73.0	78.0	77.0					12																	26809335		2047	4196	6243	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809335C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2339G>A	12.37:g.26809335C>T	ENSP00000370744:p.Arg780His						p.R780H	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2755	-	Colorectal(261;0.0847)		780					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2339G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977008	0.74360	.	.	ENSG00000123104	ENST00000381340	D	0.92495	-3.05	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	M	0.70903	2.155	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	D	0.88851	0.3319	10	0.42905	T	0.14	.	18.0329	0.89290	0.0:1.0:0.0:0.0	.	780	Q14571	ITPR2_HUMAN	H	780	ENSP00000370744:R780H	ENSP00000370744:R780H	R	-	2	0	ITPR2	26700602	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.596000	0.82721	2.546000	0.85860	0.655000	0.94253	CGC		0.562	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		10	63	0	0	0	1	0	10	63				
DUOX1	53905	broad.mit.edu	37	15	45427465	45427465	+	Silent	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr15:45427465G>A	ENST00000321429.4	+	6	878	c.471G>A	c.(469-471)cgG>cgA	p.R157R	DUOX1_ENST00000389037.3_Silent_p.R157R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	157	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGACCGGACGGAGTCCCAGCA	0.726																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(469-471)cgG>cgA		dual oxidase 1							10.0	12.0	11.0					15																	45427465		2160	4262	6422	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45427465G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.471G>A	15.37:g.45427465G>A						DUOX1_ENST00000389037.3_Silent_p.R157R	p.R157R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	878	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	157			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.471G>A	CCDS32221.1																																																																																				0.726	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		6	14	0	0	0	1	0	6	14				
RNPEPL1	57140	broad.mit.edu	37	2	241516021	241516021	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr2:241516021C>T	ENST00000270357.4	+	9	1480	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	296					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TCTCAGGGATCCAGCCTGACC	0.662																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(886-888)tCc>tTc		arginyl aminopeptidase (aminopeptidase B)-like 1							25.0	29.0	27.0					2																	241516021		2199	4289	6488	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516021C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.887C>T	2.37:g.241516021C>T	ENSP00000270357:p.Ser296Phe					RNPEPL1_ENST00000464550.1_3'UTR	p.S296F	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1480	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	296					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.887C>T		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097929	0.56075	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.46451	3.42;0.87	4.36	4.36	0.52297	Armadillo-type fold (1);	0.288241	0.34291	N	0.004082	T	0.47154	0.1430	L	0.40543	1.245	0.37161	D	0.902573	D;P	0.61080	0.989;0.731	P;B	0.53809	0.735;0.396	T	0.58691	-0.7592	10	0.72032	D	0.01	-29.6847	14.3682	0.66820	0.0:1.0:0.0:0.0	.	202;296	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	F	74;296;49	ENSP00000270357:S296F;ENSP00000403319:S49F	ENSP00000270357:S296F	S	+	2	0	RNPEPL1	241164694	0.573000	0.26676	1.000000	0.80357	0.733000	0.41908	1.574000	0.36482	1.979000	0.57680	0.491000	0.48974	TCC		0.662	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		9	41	0	0	0	1	0	9	41				
BCLAF1	9774	broad.mit.edu	37	6	136582609	136582609	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr6:136582609C>A	ENST00000531224.1	-	12	2803	c.2551G>T	c.(2551-2553)Gac>Tac	p.D851Y	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D678Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D800Y|BCLAF1_ENST00000031135.9_Missense_Mutation_p.D69Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D849Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D802Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D800Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	851					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATCTCTGTCGTCATGCTAC	0.378																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2551-2553)Gac>Tac		BCL2-associated transcription factor 1							142.0	144.0	144.0					6																	136582609		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582609C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2551G>T	6.37:g.136582609C>A	ENSP00000435210:p.Asp851Tyr					BCLAF1_ENST00000031135.9_Missense_Mutation_p.D69Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D800Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D802Y|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D800Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D849Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D678Y	p.D851Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2803	-	Colorectal(23;0.24)		851					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2551G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.659090|3.659090	0.67586|0.67586	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.59083|.	2.01;2.74;2.74;1.77;2.01;0.29;2.74|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.66655|0.66655	0.2811|0.2811	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.998;0.998;0.999|.	T|T	0.63488|0.63488	-0.6626|-0.6626	10|5	0.87932|.	D|.	0|.	-12.2699|-12.2699	19.3961|19.3961	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;130;800;851;678|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	Y|L	851;800;802;678;849;69;800|117	ENSP00000435210:D851Y;ENSP00000229446:D800Y;ENSP00000435441:D802Y;ENSP00000436501:D678Y;ENSP00000434826:D849Y;ENSP00000031135:D69Y;ENSP00000376159:D800Y|.	ENSP00000031135:D69Y|.	D|R	-|-	1|2	0|0	BCLAF1|BCLAF1	136624302|136624302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.412000|6.412000	0.73303|0.73303	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.378	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		3	142	1	0	1	1	1	3	142				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	68	0	0	0	1	0	16	68				
HRH1	3269	broad.mit.edu	37	3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	rs139664451	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552																																						ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(289-291)cGt>cAt		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	195.0	182.0	186.0		290,290,290,290	2.2	0.6	3	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	HRH1	NM_000861.3,NM_001098211.1,NM_001098212.1,NM_001098213.1	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	97/488,97/488,97/488,97/488	11301013	2,13004	2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301013G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.290G>A	3.37:g.11301013G>A	ENSP00000380247:p.Arg97His					HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	481	+			97					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.290G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693340	0.30052	2.27E-4	1.16E-4	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.73047	-0.71;-0.71;-0.71	5.87	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.346611	0.28606	N	0.014755	T	0.57888	0.2084	L	0.58302	1.8	0.09310	N	1	P	0.35551	0.509	B	0.30401	0.115	T	0.45056	-0.9287	10	0.28530	T	0.3	-11.8412	6.106	0.20073	0.2733:0.0:0.5977:0.129	.	97	P35367	HRH1_HUMAN	H	97	ENSP00000406705:R97H;ENSP00000397028:R97H;ENSP00000380247:R97H	ENSP00000380247:R97H	R	+	2	0	HRH1	11276013	0.004000	0.15560	0.592000	0.28758	0.835000	0.47333	1.521000	0.35910	0.409000	0.25649	0.655000	0.94253	CGT		0.552	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			5	218	0	0	0	1	0	5	218				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	152	0	0	0	1	0	4	152				
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	48						7	48	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	6						3	6	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9113009	9113011	+	In_Frame_Del	DEL	GCA	GCA	-	rs142900716|rs59844091		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr11:9113009_9113011delGCA	ENST00000309263.3	-	1	137_139	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del	SCUBE2_ENST00000450649.2_In_Frame_Del_p.L22del|SCUBE2_ENST00000457346.2_In_Frame_Del_p.L22del|SCUBE2_ENST00000534295.1_Intron|MIR5691_ENST00000579525.1_RNA|SCUBE2_ENST00000520467.1_In_Frame_Del_p.L22del			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	22						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		agcagtggcggcagcagcagcag	0.788																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(64-69)ccg>c		signal peptide, CUB domain, EGF-like 2			,	125,51		61,3,24					,		0.2		dbSNP_134	1	181,401		88,5,198	no	coding,coding	SCUBE2	NM_020974.2,NM_001170690.1	,	149,8,222	A1A1,A1R,RR		31.0997,28.9773,40.3694	,	,		306,452				SO:0001651	inframe_deletion	57758					extracellular region	calcium ion binding	g.chr11:9113009_9113011delGCA	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.65_67delTGC	11.37:g.9113018_9113020delGCA	ENSP00000310658:p.Leu22del					SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del|SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del	p.LP22del			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	1	139_141	-			22					Q2NKQ8|Q6ZWI1	In_Frame_Del	DEL	ENST00000309263.3	37	c.65_67delTGC																																																																																					0.788	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		5	3						5	3	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			3	5						3	5	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)del		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001651	inframe_deletion	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465270_125465272delCTC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del						p.E168del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600_602	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	c.502_504delGAG	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		3	6						3	6	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51171483	51171483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:51171483delC	ENST00000293441.1	-	22	3752	c.3734delG	c.(3733-3735)ggcfs	p.G1245fs	SHANK1_ENST00000391813.1_Frame_Shift_Del_p.G632fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G1253fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G1236fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1245					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATTCTGCCAGCCCCCCTCCCT	0.796																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(3733-3735)gcfs		SH3 and multiple ankyrin repeat domains 1							3.0	4.0	4.0					19																	51171483		1264	2727	3991	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171483delC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.3734delG	19.37:g.51171483delC	ENSP00000293441:p.Gly1245fs					SHANK1_ENST00000391813.1_Frame_Shift_Del_p.G632fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G1236fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G1253fs	p.G1245fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	3752	-		all_neural(266;0.057)	1245					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.3734delG	CCDS12799.1																																																																																				0.796	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---
